Beyond The Diagnosis, Catalog by Alma Jimenez

BEYOND THE DIAGNOSIS

ART EXHIBIT

“It’s not what you look at that matters. It’s what you see.” Henry David Thoreau Volume 3, Edition 1

CATALOG TITLE

BEYOND THE DIAGNOSIS

ART EXHIBIT

The Beyond the Diagnosis Art Exhibitâ&#x20AC;&#x2122;s focus is to increase research and raise awareness of rare diseases within the medical community through art. Professional artists from around the world donate their time and talent to paint portraits of children living with a rare disease. The portraits then become part of a traveling exhibit for medical schools, research institutes and hospitals. Our Beyond the Diagnosis art exhibit was first unveiled at Brown University's Alpert Medical School for the entire month of February 2015 in honor of World Rare Disease Day. Interest in this unique exhibition continues to grow and inspire both the medical community and researchers to increase efforts in rare disease research and treatments. This exhibit has also touched the hearts and minds of the general public. Since the debut, Beyond the Diagnosis has visited the NIH, Broad Institute, Hofstra Medical, Harvard Medical, the FDA and many more. Beyond the Diagnosis was also featured on CBS Sunday Morning, bringing awareness of rare diseases to millions of people. Art has been used for thousands of years to successfully convey a message, whether it be a story or a glimpse into the human spirit. At Rare Disease United Foundation, we believe art not only leaves a powerful and lasting visual imprint, but creates a unique connection for the viewer. Beyond the Diagnosis is changing the way the world sees rare.

R A R E D I S E A S E U N I T E D F O U N D AT I O N

CATALOG TITLE

RARE DISEASE FACTS In the United States, a condition is considered “rare” if it affects fewer than 200,000 persons combined in a particular rare disease group.

• There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day.

• 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population.

• It is estimated that 350 million people worldwide suffer from rare diseases. • 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear.

• Approximately 50% of the people affected by rare diseases are children. • 95% of rare diseases have not one single FDA approved drug treatment. • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.

BRIAN

Brian is a vibrant 5 year old who loves all things Batman. He is cautious and careful and loves new experiences. Brian loves reading, playing, socializing and being a typical and silly boy. Brian is about to enter kindergarten and has nothing but excitement and joy for entering the big school to meet friends. His cautious self catches up to him every now and again and brings up questions about who will he know, will they like him and who is his teacher. I know he doesn't need to worry. Brian lights up the room, his smile melts hearts and gains him friends quickly. He is no longer shy and reserved. He is aware that when he becomes tired, his speech slurs and he wobbles on his feet. He compensates by sitting, wiping the drips of drool on his supercool wristbands and speaking more slowly. He is only five, but he understands his body and its signals as if he were an adult.

ATAXIA-TELANGIECTASIA

BEYOND THE DIAGNOSIS

Outside of school, Brian loves therapeutic horse riding, karate and playing t-ball. He enjoys the feeling of being part of a team and working together, but he also enjoys the quiet simplicity of riding a horse through a trail. Karate mixes the two, allowing him to be in a group, but working alone. Brian is always asking about the next adventure, he is not a homebody. He is always wanting to book playdates, trips, sleepovers in hotels and just being on the go. By just looking into his crystal blue eyes and watching him run, laugh and be silly...you would never know that AtaxiaTelangiectasia is inside him and will take all of that movement away from him as the disease progresses. These are the best days...the joyful, innocent days where he is A-T free and we carry the burden for him. We will carry it for him as long as we can, so he can enjoy being blissfully unaware. ~Lauren, Brianâ&#x20AC;&#x2122;s Mom

Ataxia-Telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements, muscle twitches, and disturbances in nerve function. The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side. Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition. People with Ataxia-Telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells and cancer of immune system cells. Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays. The life expectancy of people with Ataxia-telangiectasia varies greatly, but affected individuals typically live into early adulthood.

Colin Howel is a design engineer by profession and paints for fun. He has been painting in his spare time for

3 years or so now and gravitated very quickly to portraiture which he finds to be an incredibly rewarding way to spend time. Colinâ&#x20AC;&#x2122;s art qualifications are limited to A level Art History which he studied between the ages of 16-18. This has been supplemented in the last 3 years by the vast amount of practical advice he has received from artists and amateurs alike on social media. He paints predominantly in oil on stretched canvas.

CATALOG ISSUE #1 /TITLE MONTH 2018

BRIAN

ATAXIA-TELANGIECTASIA

BEYOND THE DIAGNOSIS

Artist: Colin Howel

ABBY

Abby is an exuberant and sweet young lady with a lust for life. She is a junior in high school who loves singing and dancing, and lives life with passion. She sings in Musical Theatre class, and loves "Grease" and other musicals. Despite being born with an exceptionally rare condition, craniometaphyseal dysplasia, Abby is "one in a million" because of her spunk and personality, rather than because of a statistic. With only 10 or so reported cases affecting kids to her severity and perhaps only 100 reported cases of milder forms worldwide, Abby has inspired us all to look "Beyond the Diagnosis."

BEYOND THE DIAGNOSIS

us that "You are you, and that you will be! You have control over your own destiny." Diagnosed at 10 weeks old, we were told she would be completely deaf and completely blind. While she does have a dual sensory loss of vision and hearing, she has forged a path of triumph and exceeded all of our expectations. With a one-on-one aide in class, she is the modern day Helen Keller-assisted by digital hearing aids and high-tech devices. Her courage and abilities are an inspiration to our family and community. She is sister, daughter and friend. Mom, Yoje and Elliot love you!

She writes songs including the "Power of this Moment" and teaches ~Debbie, Abbyâ&#x20AC;&#x2122;s Mom

CRANIOMETAPHYSEAL DYSPLASIA Craniometaphyseal dysplasia is an extremely rare genetic disorder characterized by distinctive abnormalities of the head and facial area, impairment of certain nerves that emerge from the brain, and malformations of the long bones of the arms and legs. In infants and children with craniometaphyseal dysplasia, there may be overgrowth and/or abnormal hardening of certain bones of the skull and overgrowth of craniofacial bones, resulting in widely-spaced eyes, an abnormally wide nasal bridge, an enlarged lower jaw, and a "leonine" facial appearance. Compression of certain nerves emerging from the brain may result in loss of some motor function in the facial area and hearing loss. In addition, in individuals with the disorder, the long bones of the arms and legs may develop abnormally, resulting in unusual "club-like" flaring or broadening of the end portions of the bones. In some cases, craniometaphyseal dysplasia may be inherited as an autosomal dominant genetic trait; in other cases, the disorder may have an autosomal recessive mode of inheritance.

Vincent Castaldi was born and raised in Rhode Island. From the very beginning, he was an artist. He loved

drawing and showed significant talent from an early age and began his formal studies in elementary school, taking whatever art, drawing and pottery classes were available. He continued his focus on the arts into junior high school and was accepted into the Rhode Island School of Design (RISD) Junior School Program figure drawing classes.

CATALOG ISSUE #1 /TITLE MONTH 2018

ABBY

CRANIOMETAPHYSEAL DYSPLASIA

BEYOND THE DIAGNOSIS

Artist: Vincent Castaldi

TEAGAN

CATALOG TITLE

Teagan was born in southern Ethiopia in an area where there are no clean water resources or medical care. His birthmother most likely suffered from an infection or water-borne illness during the second trimester of pregnancy, resulting in abnormal brain development. He was born with schizencephaly, a cleft in the left hemisphere, a chronic, bi-lateral subdural hematoma, absence of the septum pellucidum and cerebral palsy. His birthmother tried to care for him for the first two years of his life without any support or medical care and then he entered an orphanage, suffering from severe malnourishment in addition to his medical conditions. Teagan remained in the orphanage for the next 3 1/2 years, witnessing healthy children leave with their new families until his smile reached out to us through a picture across the miles. We began praying that he would find a family and eventually began to ask ourselves if not us, then who would step out in faith to love this

SCHIZENCEPHALY

BEYOND THE DIAGNOSIS

little boy. So, despite all the unknowns, we began the process of making him part of our family. When Teagan came home at age 5 1/2, he was non-verbal and did not even have the strength to sit up on his own without support. He has made tremendous progress over the past three years in all areas of functioning. He is able to walk with a walker, is currently the star of his second grade class and is reading and writing. Most importantly, he knows he is loved and where he belongs. As he said recently, “We are family. We are safe.” Teagan’s smile is contagious and he is an inspiration to everyone he meets. He is truly a light in this world and a lesson in hope to anyone who is struggling to persevere through their own challenges. Our days together are not always easy, but they are blessed. ~Amie, Teagan’s Mom

Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere are often paralyzed on one side of the body, but may have average to near-average intelligence. Individuals with schizencephaly may also have an abnormally small head, cognitive delay and impairment, partial or complete paralysis, or poor muscle tone. Most will experience seizures.

Jota Leal is a self-taught Venezuelan artist. He is an electronics engineer who decided to exchange numbers

for colors and paintbrushes, and circuits for canvases. Jota is a surreal portrait artist. Artistically, his intention is to express what he perceives unconsciously. He humbly attempts to portray souls, not faces. There is a universe of intangible forms and ideas that occur in his mind every time he tries to remember or visualize a person through imagery, sensation and feelings. That, in short, is what he tries to capture and translate onto the canvas—the essence.

CATALOG TITLE

TEAGAN

SCHIZENCEPHALY

BEYOND THE DIAGNOSIS

Artist: Jota Leal

GLENN

BEYOND THE DIAGNOSIS

CATALOG TITLE

Glenn was born healthy and happy and seemingly perfect. We watched him hit all of his milestones early and laughed at his playfulness and dancing. By age three, he had one seizure and by age four he had 12 more and stopped dancing. Glenn began to ignore the world around him and the seizures took on a terrifying trait: status epilepticus.

Five years later, we discovered he also had a genetic mutation in the ANKRD11 gene and was diagnosed with KBG syndrome. KBG is a rare condition with less than 200 affected individuals worldwide. Because of this diagnosis, we have been able to find more issues Glenn has and have them treated! Today, he is thriving and happier than he has been since he was three.

We nearly lost Glenn four times in 2010 before we received the Cerebral Folate Deficiency diagnosis and with the addition of folinic acid to his regimen, his seizures decreased and he began to engage.

Being rare means being truly unique and understanding that, unlocked his world. Thank you to all who share his journey and love him just as he is.

KBG SYNDROME

~Annette, Glennâ&#x20AC;&#x2122;s Mom

KBG syndrome (KBG) is a rare disorder that affects several body systems. KBG represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. A characteristic feature of KBG syndrome is unusually large upper front teeth. Other distinctive facial features include a wide, short skull, a triangular face shape, widely spaced eyes, wide eyebrows that may grow together in the middle, a prominent nasal bridge, a long space between the nose and upper lip, and a thin upper lip. A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones. In addition, affected individuals can have abnormalities of the bones of the spine and ribs. They can also have abnormalities of the bones of the hands, including unusually short or curved fifth (pinky) fingers. Most affected individuals are shorter than average from birth. Development of mental and movement abilities is also delayed in KBG syndrome. Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Some people with this condition have behavioral or emotional problems, such as hyperactivity or anxiety.

Robert Hurst is one of the top sports artists in the country. In addition to his sports themed artwork he

creates vibrant music and western themed paintings. He also recently started a critter themed collection that has received wide acclaim. Working with acrylic paints, Robert is able to create a feeling of dynamic movement. Using gestural sweeps of vibrant color he captures the essence of the people and subjects he commits to canvas.

CATALOG TITLE

GLENN

KBG SYNDROME

BEYOND THE DIAGNOSIS

Artist: Robert Hurst

SOPHIE

BEYOND THE DIAGNOSIS

CATALOG TITLE

When they first handed me my daughter I couldn't believe how beautiful she was. She was tiny, with petite little features and a full head of dark Auburn hair with caramel highlights. It looked as though she had stopped off at the in utero salon before making her grand entrance into the world. Really, if you have the time, why not? It wasn't long after her birth we began to notice that something was a little different about our sweet Sophie. In three months, she had barely grown. She still looked like a newborn. She always sounded congested and could not support the weight of her own head. Then the constant vomiting began.

Through it all she has never lost her smile. Her laugh is infectious. She has one of those laughs that makes the whole room erupt in laughter simply because her laugh is so fantastic. While she doesn't talk...she looks into your eyes and it's as if she knows something we donâ&#x20AC;&#x2122;t, as if age holds the secret to life. Her soul is older than most. She oozes with love for other people and is slightly mischievous at the same time. She has been called a bit of a princess on more than one occasion. I hope she always wears that crown. She offers everyone hugs and can change anyones day for the better as her tiny hypotonic body melts into yours. ~Megan, Sophieâ&#x20AC;&#x2122;s Mom

We started searching for answers. As I stood in front of a doctor, she pointed out all the things I thought were most beautiful about my tiny daughter. Her small ears, her petite features, that lie hairline, those tiny tapered fingers...and then she said, "It's not going to be easy." And so our journey began.

WIEDEMANN-STEINER SYNDROME Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.

Clark Ocampo (b. 1997) is a representational artist based in Seattle, WA who is inspired by the works of the Old Masters. In the Spring of 2015, he took his first ever art class on basic drawing and painting at Highline College in Des Moines, WA, where he discovered his passion for the arts. He is currently studying classical drawing and painting at Georgetown Atelier in Seattle under distinguished mentor and founder of the Georgetown Atelier, Tenaya Sims.

CATALOG TITLE

SOPHIE

WIEDEMANN-STEINER SYNDROME

BEYOND THE DIAGNOSIS

Artist: Clark Ocampo

MAX

BEYOND THE DIAGNOSIS

CATALOG TITLE

FEBRUARY 6, 2014 - JUNE 24, 2016

Max was born on February 6, 2014 as a healthy full term baby boy. By one and a half months he was sleeping through the night. He was such a happy baby and always smiling. At his six month well check up he was a little delayed with some milestones, but a week or so after was sitting up on his own and rolling from his stomach to his back (he didn't like tummy time). Around 7-8 months we slowly noticed that Max was struggling to sit straight - he was a little more fussy, he stopped grabbing for things and he wasn't rolling. We thought it was something we had not done well as parents - even though Max is our 2nd child, we have a 2 1/2 year old daughter Emma, we thought maybe we weren't designating enough time to him. We took him in to his pediatrician for a 9 month well check-up and she told us to go to emergency because his breathing

KRABBE DISEASE

had become a little more shallow and something was off. She was the one that detected it first. We went to PCH and checked in early November 7, Friday - Tuesday with no real answers other than he had some vanishing white matter that appeared on his MRI. We were sent home and our pediatrician pushed for us to see a genetics doctor immediately because getting in to see him was weeks/months out. We got in the following week and they had us do some blood work to be sent off to test for some rare disorders. On December 1, we went back to PCH for a neurology appointment and more tests scheduled that week. The genetics doctor walked in with two neurologists with the worst possibly news - Max had a leukodystrophy and worst of all - he basically had the worst version, Krabbe Disease. ~Allison, Max's Mom

Krabbe disease is progressive degenerative disorder of the nervous system which causes the destruction of myelin, a fatty material that surrounds and insulates nerves. Krabbe Disease affects approximately 1 in every 100,000 live births. Most patients (85-90%)with Krabbe Disease have the infantile form. During the first few months of life these children develop normally but extreme irritability, spasticity, and loss of developmental milestones soon become evident (typically before 6 months of age). Other symptoms include fevers, seizures and feeding difficulties. Neurological deterioration leads rapidly to death, generally within the first few years of life. Krabbe is a genetic disease and is inherited in an autosomal recessive manner. With each pregnancy, couples with an affected child have a 25% chance of another affected child, a 50% chance of a healthy child who is a carrier and a 25% chance of a healthy child who is not a carrier. It is estimated that 1 in every 125 people is a carrier for Krabbe Disease and families with an affected child generally have no family history of the disease. Early diagnosis is key. There is no cure for Krabbe Disease and treatment is mainly supportive. If diagnosis is made before the onset of symptoms or in the early stages of slower progressing disease, stem cell transplantation can halt the progression of the disease.

Jennifer Polnasek is primarily a figurative artist working in the media of drawing, oils, and watercolor.

Jennifer is a physician assistant and former registered nurse with a extensive background in medicine and a deep appreciation for the physical and emotional impact of chronic and serious disease.

CATALOG TITLE

MAX

KRABBE DISEASE

BEYOND THE DIAGNOSIS

Artist: Jennifer Polnasek

CALEB

CATALOG TITLE

Caleb Ray is 3 years old and was born with a rare mosaic gene mutation called Macrocephaly-Capillary Malformation (M-CM) syndrome. He has hemihyperplasia, capillary malformations covering 75% of his body, polymicrogyria, cortical dysplasia, dysgenesis of the corpus callosum and hypotonia. He is non-verbal and non-ambulatory. His future is unknown due to the rarity of the syndrome (less than 200 known diagnosed worldwide).

BEYOND THE DIAGNOSIS

Caleb is the youngest of 6 kids and is the biggest blessing his family could ever imagine. He is learning to communicate by using a pecs system and sign language. Caleb is very outgoing and loves to go on any adventure and be outside. He is the sweetest, happiest, most loving little guy ever!! ~Tori, Caleb’s Mom

Caleb has many specialists looking after his care and requires yearly brain and spine MRI's and renal ultrasounds every 3 months.

MACROCEPHALY-CAPILLARY MALFORMATION Macrocephaly-Capillary Malformation (M-CM) is a multiple malformation syndrome causing body and head overgrowth and abnormalities of the skin, vascular system, brain and limbs. The disorder has been attributed to a mutation in the PIK3CA gene. The mutation in M-CM is thought to occur after cell division begins and is therefore very unlikely to be inherited. A mutation that happens at this stage results in different percentages of cells being affected in different individuals, so there is significant variability in how severely each individual is affected. A diagnosis of M-CM is currently made based solely on clinical observations. Though not every affected individual has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformations, body asymmetry, extra or fused fingers or toes, lax joints, doughy skin, variable developmental delays and other neurological problems such as seizures and low muscle tone.

Serena Andrews is a multi-passionate artist, author and explorer living in St. Petersburg, Florida. Serena

works as a caricature artist at Universal Studios, Orlando. She was born and raised in Maine and lived in Southern New England and New York City for twenty years where she pursued an education in music, business and film studies. As a visual artist, Serena has been illustrating, animating and painting since a young age. She has been an artist-in-residence at communities such as AS220 and Mariposa, as well as a guest teacher for schools including the Center for Women & Enterprise, Times Squared Academy, The Urban Collaborative Accelerated program, and Keep St Pete Lit.

B E Y O N DTITLE THE DIAGNOSIS CATALOG

CALEB

MACROCEPHALY-CAPILLARY MALFORMATION

BEYOND THE DIAGNOSIS

Artist: Serena Andrews

EMMA

BEYOND THE DIAGNOSIS

CATALOG TITLE

Emma Rose arrived in August, 2008. There was no reason to expect problems and there were not any until her first seizure 30 minutes after birth. In the following years, we traveled to other states and the best known hospitals looking for a diagnosis. Emma was five years old before we were told she had a never-before-seen variant of a mutation in the STXBP1 gene. They could not give us much information as the gene was fairly new to the medical and research worlds. We knew it meant seizures and lots of them, but other than that, it has been a roller coaster ride of discovery for all of us. Emma has always been a happy, sweet child. She rarely complains and loves to smile and laugh. She enjoys music, people, animals and being outside. One of her favorite things to do is go outside at night and look for the moon and stars and have me sing "Twinkle, Twinkle Little Star". She also really likes spiders and looks at me to sing "Itsy Bitsy Spider" when she sees one on the wall. She

adores her big brothers and getting on the bus to go to school each morning. Emma has been a kind of teacher since she entered our lives. She has taught us what is important and what is okay to let go of. She has taught us love and kindness. She has taught her teachers and classmates acceptance, creativity, and patience. She has taught every person who has crossed her path joy and how to appreciate every day and the special moments found in each one. Since her diagnosis, she has participated in a number of research studies and through them, will hopefully help teach the medical community about STXBP1. ~Jennifer, Emmaâ&#x20AC;&#x2122;s Mom

STXBP1 GENE MUTATION STXBP1 (Syntaxin Binding Protein 1) is a binding protein that is used in the synaptic nerves of the brain. It helps make the connections between the nerves in the brain. Individuals who have a mutation of this gene will usually start having seizures in utero or shortly after birth. As they grow, they will show signs of developmental delays with their motor skills and speech.

Lawrence Gardinier has the good fortune to wake up early every morning and paint all day. When growing up,

his father drag raced and later collected cars. Larry showed artistic talent and a passion for cars at a very young age. When his parents discovered his gift they encouraged him to pursue this career. A professional automotive artist since 1990, he is for the most part, self-taught. Gardinier says, "I have developed my own methods and techniques to create my work. I am continuously advancing my knowledge of materials and evolving as an artist by changing my style. I believe that I'm only as good as my last painting, so I work very hard to create my best art every time."

B E Y O N DTITLE THE DIAGNOSIS CATALOG

EMMA

STXBP1 GENE MUTATION

BEYOND THE DIAGNOSIS

Artist: Lawrence Gardinier

CATALOG TITLE

KALEN & KYAN

BEYOND THE DIAGNOSIS

Kalen and Kyan are both affected with Spinal Muscular Atrophy Type 2. At five and four years old, they are the bravest little heroes we have ever known.They both attend school in their power chairs, love superheroes and eating pizza! We appreciate each and every moment we have with them and smile every single day as a family. ~Sierra, Kalen and Kyan’s Mom

SPINAL MUSCULAR ATROPHY Spinal Muscular Atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition, associated signs and symptoms and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.

Ian Gaudreau who is based in Rhode Island, has been a professional artist for seven years and has worked

on several commissioned murals, including one that is 450 feet long for the overpass at the Mansfield, MA train station.

B E Y O N DTITLE THE DIAGNOSIS CATALOG

KALEN & KYAN

SPINAL MUSCULAR ATROPHY

BEYOND THE DIAGNOSIS

Artist: Ian Gaudreau

BEYOND THE DIAGNOSIS

CATALOG TITLE

FRANCESCA

Francesca was born with an uncomplicated delivery. At four months, I noticed something was wrong. She has had many tests, all with negative results. Francesca has low tone like a cerebral palsy child, but no brain damage. About four years ago we sent away for her to have her chromosomes sequenced and finally last year she was diagnosed with ADCY5. Only five families in Australia have been diagnosed with ADCY5. Francesca is wheelchair-bound. She attends a mainstream school and enjoys learning. She is always very happy. She enjoys arts and crafts hobbies and loves baking cupcakes. Her favorite pastime is shopping! ~Angelina, Francescaâ&#x20AC;&#x2122;s Mom

ADCY5 The ADCY5 gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a molecule that supplies energy for cellular activities, including muscle contraction, and cAMP is involved in signalling for many cellular functions.

Jota Leal is a self-taught Venezuelan artist. He is an electronics engineer who decided to exchange numbers

CATALOG TITLE

FRANCESCA ADCY5

BEYOND THE DIAGNOSIS

Artist: Jota Leal

BEYOND THE DIAGNOSIS

CARSON

Carson is a child with a huge personality. His laughter is contagious; he enjoys making others laugh, often trying to play jokes on them. His favorite things to do are playing outside, pitching baseballs to his older brother, and riding his bike. Carson thoroughly enjoys going to preschool, playing soccer, basketball and baseball with other children, and trying to make his baby sister smile at him. On the outside, you would never imagine that this handsome young boy was born with a life expectancy of 41 years old. His diagnosis at just one week old has prompted the need for multiple daily treatments lasting 30 minutes each, consisting of a vest breathing system that shakes him vigorously to break up the mucous in his lungs. He also must take more than 20 pills a day to aid his digestion. Carson actively engages in drug trials and research to help shape better outcomes for himself and others. He is our love, our life, and our hero! ~Jarrod, Carson’s Dad

CYSTIC FIBROSIS Cystic Fibrosis (CF) is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, a defective gene causes a thick, sticky buildup of mucus in the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.

Charlie Hall is known by many as “Rhode Island’s State Jester.” He is the creative force (writer, director,

producer) behind the OCEAN STATE FOLLIES, MASS HYSTERIA, the RHODE ISLAND COMEDY FESTIVAL. Charlie is also co-creator of RHODE BYTES, a local sketch-type show appearing on NBC 10 and its website. Charlie is an award-winning political cartoonist.

CATALOG TITLE

CARSON

CYSTIC FIBROSIS

BEYOND THE DIAGNOSIS

Artist: Charlie Hall

ASIA

Asia currently has a diagnosis of 2q23.1 microdeletion syndrome. 2q parents and researchers are working on a name change for this disorder. When Asia was 2 years old we noticed that something just was not right. She was falling behind developmentally and physically. We began a long list of medical symptoms. It took the next 5 years of running every test possible to get the current diagnosis. We put her through so much. Asia is adventurous. We call her our “X” girl because if she can go higher, faster, or more extreme she is thrilled. She loves amusement parks, riding horses, sporting events and anything that gives a little rush of adrenaline. Asia is still labeled “non-verbal,” but she is speaking new words every day. This speech began with words that were most important to her and to her siblings- like mom,

BEYOND THE DIAGNOSIS

dad, eat and Spiderman (brother’s favorite). After changing Asia’s medications, she no longer wants to sit in the house and watch her iPad. She wants to go “out”. She now loves going to the playground and parties, walking the mall, being at the pool and taking rides in the car or train. She loves going to school, playing with her special friends there, and especially riding on the school bus. Her bus driver says that Asia will point out everything along the way, like the football stadium, the salon and the church. She is so good with directions and knows where she is at all times. Asia is our fun, sweet, slightly mischievous Angel and has taught us so much as parents. She loves everyone and absolutely loves making new friends of any age. We can’t imagine life without her. ~Season, Asia’s Mom

2Q23.1 MICRODELETION The newly described 2q23.1 microdeletion syndrome includes among its symptoms severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behavior, a disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalized brachydactyly with small hands and feet. To date, fifteen patients have been reported.

Zohra Amarta Shah is an artist with social conscience. Zohra received her Bachelor of Fine Art degree from

Indus Valley School of Art and Architecture in Karachi, Pakistan. Her fascination with fine art and especially painting grew in her early years spent at Sunny Bank Primary School in Aberdeen, Scotland. Later she became more experienced with art in St. Machar's Academy, Aberdeen, where she majored in Fine Art. Zohra’s work features a blend between western and eastern cultures, which came to her naturally by experiencing life in both; each with a rich artistic background and history. Her art has been exhibited nationally and internationally. Aside from the niceties of art, her work focuses on social issues including child abuse, gender violence and human rights.

CATALOG TITLE

ASIA

2Q23.1 MICRODELETION

BEYOND THE DIAGNOSIS

Artist: Zohra Amarta Shah

LUKA

BEYOND THE DIAGNOSIS

CATALOG TITLE

MARCH 4, 2014 - DECEMBER 1, 2015

Just by looking at Luka’s adorable big brown eyes, bouncing curls, and beaming smile, as many people have said -- for most of his life you would never know he had a necklace with over 48 feet of beads of courage representing just about every clinic visit, infusion, hospitalization, day in isolation, surgery, blood transfusion, PICU visit, bone marrow transplant, immobility, and so much more. Just the lab results, central lines, medications, injections, and need for a bone marrow transplant put in perspective how incredibly intense his condition was -- but for Luka he made it into a positive, helping me clean his caps, clapping and saying “we did it” after an injection, sporting his beloved tube top, helping with putting the thermometer back, squeezing the manual blood pressure machine. He was brilliant. Seriously. At one point, he could basically take his own vitals and would march around the clinic looking for the computers which he adored oh so much. He knew how to use a stethoscope and where to put it on his heart because Dr. Philip taught him how every check. Luka truly was king of the clinic, rightfully so. But Luka was more than how he met his medical challenges with a positive attitude. Luka possessed – and still does -- a radiant soul. He found joy in just about anything – playing with, riding in, and watching race cars, making up sign

language to nursery rhymes, climbing chairs and tables, stealing remotes, dancing with his bop bop move, celebrating goals being scored while watching the Premiere League, reading bookies and pointing to the words he heard me say, and his vast vocabulary accompanied by sign language that he created on his own. Beyond “more please” as nurses in this room may never forget, my favorites signs were associated with 5 Little Monkeys Jumping on the Bed and his “no, no” sign for the doctor, and head pat for falling off the bed. But perhaps the most beautiful sign represented the greatest gift of what a father can teach a son – to love and show love, as when Luka showed affection through hugs, he rubbed our backs or arms just like daddy does. Luka was truly remarkable at communicating which extended even to his toughest days. If you see strength in our family, it is only because we gained witness to the strength Luka endured his entire life. LukaTheLion is our angel -- both a guiding light and roaring lion forever always. So next time when you see darkness -- be a guiding light. Next time you feel weak -- roar. Always remember to roar. You silly chickens! ~Julia, Luka’s Mom

PRIMARY IMMUNODEFICIENCY DISEASE Primary immune deficiency diseases (PIDDs) are rare, genetic disorders that impair the immune system. Without a functional immune response, people with PIDDs may be subject to chronic, debilitating infections, such as Epstein-Barr virus (EBV), which can increase the risk of developing cancer. Some PIDDs can be fatal. PIDDs may be diagnosed in infancy, childhood, or adulthood, depending on disease severity.

Vivian McNeeley is a professional artist living in Massachusetts. She is also a licensed elementary art

educator whose work is influenced by the portraits of John Singer Sargent and Gustav Klimt. Her paintings have been commissioned by several Massachusetts businesses.

CATALOG TITLE

LUCA

PRIMARY IMMUNODEFICIENCY DISEASE

BEYOND THE DIAGNOSIS

Artist: Vivian McNeeley

VICTOR

Victor is our little superhero!! He is a fighter and amazing despite everything up against him. Victor loves pizza, cake, cookies, to run and jump, me and his mommy. He is a total momma's boy. He is the sweetest little thing you could ever meet, even when he has tantrums. He is a fighter and never gives up. He has no fear as he will climb and jump off anything he can, keeping us on our toes to say the least. He jumps off furniture, beds, slides, anything he can climb on to. He loves cars and trucks too. He could push cars around all day. He just turned two on Dec. 22. Victor is affected by CLOVES, throughout many areas of his body, but he is affected mostly in his face and brain. He has brain malformations throughout the entire back of his right brain along with hemimegaloencephaly. He is currently on two medications to treat his seizures and close to being maxed out on both. He does have grand mal seizures on occasion. His kidneys are now normal with a history of hydronephrosis.

BEYOND THE DIAGNOSIS

His feet are typical CLOVES feet, wide feet, with a sandal gap. They used to make me cry, now I can't get over how cute they are and he loves them kissed and tickled. His calf muscles are very strong and enlarged. He has always had high muscle tone in his legs since birth. His balance is off from his cerebellum being affected. He can run, but falls a lot and runs into walls. He had surgery as a baby for pyloric stenosis and this summer for his eyes crossing. He has a hernia in his abdomen that he will have surgery on at the age of 5. He has darker pigmented skin on his right abdomen and back. He has a tethered spinal cord. His right cheek, teeth, gums and tongue are larger. He has an epidermal nevi on his right cheek and also up the right nose and forehead. He is able to talk as good as a 24 month old can. We call him our little superhero, as he is so amazing! ~Jerry, Victorâ&#x20AC;&#x2122;s Dad

CLOVES SYNDROME CLOVES syndrome (CS) is a recently described rare disorder characterized by tissue overgrowth and complex vascular anomalies. CLOVES stands for congenital lipomatous overgrowth, vascular malformations, epidermal nevi and scoliosis/ skeletal/spinal anomalies. CLOVES syndrome may affects the soft tissue, blood vessels, bone and internal organs. The manifestations are very variable ranging from mild to severe anomalies. These abnormalities are typically present at birth. The most common features are: fatty masses, vascular anomalies, abnormal extremities, spinal anomalies, skin birth marks and kidney anomalies.

Phyllis Pesaturo was born in Providence, Rhode Island. She was educated at The Rhode Island School

of Design. With an expansive career in the world, Phyllis has a history of fine art spanning 40 years. Her work has been acquired for major installations both private and commercial. Phyllis is also an accomplished photographer and has worked on assignments throughout the US as well as Brazil, Argentina, Germany, Italy, the Caribbean and Mexico. An accomplished fashion, product, interiors and high-profile personality portrait photographer, Phyllis takes this perspective to her work as an artist.

CATALOG TITLE

VICTOR

CLOVES SYNDROME

BEYOND THE DIAGNOSIS

Artist: Phyllis Pesaturo

BETSI

CATALOG TITLE

Betsi is 5 years old and our only daughter. Her language is 'song.' She sang before she could speak. Throughout the day she sings at home and school, and at church everyone knows her for her singing. Her voice is not ordinary—it is angelic. I can't even understand how she sings like she went to music school before she was born. She experiences situations through song. She will sing about her fears in a doctor's room while she waits to get her blood drawn. She can create a song anytime about anything and it is always in tune and with meaning as if it was rehearsed.

BEYOND THE DIAGNOSIS

She is very independent and always says, "I will do it myself". Betsi is very assertive. I remember once she was at a reception at school where I found her principal in tears of laughter, because her teacher was telling Betsy to pick up litter which her classmates threw on the floor. She said, “I threw my litter in the bin like you told us. I am not picking up their litter. NEVER!” Since baby class, Betsi has consistently been the best of her group and now in grade 1, the best of her grade. She is very loving to other kids and sociable and they love her for her singing. ~Eda, Betsi’s Mom

MORQUIO SYNDROME Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, individuals with Morquio syndrome have normal intelligence. The clinical features of MPS IV-B are usually fewer and milder than those associated with MPS IV-A. Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together, flat feet, abnormal sideways and front-to-back or side-to-side curvature of the spine, abnormal development of the growing ends of the long bones, and/or a prominent breast bone.

Kelly Li is currently a student at Carnegie Mellon University pursuing a Bachelor degree in Architecture. In

addition to architecture and excessive amounts of coffee, she loves oil painting. She has exhibited her paintings in galleries throughout southeastern Massachusetts and Rhode Island, participated in large murals such as the Mansfield Mural Project, and currently works as a graphic designer for Spin350 Creative in Boston.

CATALOG TITLE

BETSI

MORQUIO SYNDROME

BEYOND THE DIAGNOSIS

Artist: Kelly Li

CATALOG TITLE

PURNELL

BEYOND THE DIAGNOSIS

Just before Motherâ&#x20AC;&#x2122;s Day, our smiley, gentle Purnell was diagnosed with a rare and fatal genetic disease called Niemann-Pick Type A (think baby Alzheimer's). There is currently no available treatment and if nothing is done, it is unlikely Nell will make it to his 3rd birthday. Purnell is a sweet, gentle, smiley cuddlebug. He loves to study things. And he really loves listening to music, especially his favorite band the Eagles! ~Taylor, Purnellâ&#x20AC;&#x2122;s Mom

NIEMANN-PICK Niemann-Pick is a rare, inherited disease that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs. People with this condition experience symptoms related to progressive loss of function of nerves, the brain and other organs. Niemann-Pick can occur at any age but mainly affects children. The disease has no known cure and is sometimes fatal. The three main types of Niemann-Pick are types A, B and C. The signs and symptoms you experience depend on the type and severity of your condition. Some infants with type A will show signs and symptoms within the first few months of life. Those with type B may not show signs for years and have a better chance of surviving to adulthood. People with type C may not experience any symptoms until adulthood..

Lucas James Xavier Kolasa With a passion for developing new techniques, Lucas J.X. Kolasa works in

a wide range of mediums which includes but is not limited to painting, sculpture and digitally-rendered three dimensional imagery. Lucas is very aware of his carbon footprint and attempts to minimize it in his artwork, including creating intricate gure sculptures and busts using recycled materials. Lucas is currently developing new pointillism techniques using paint filled syringes to produce detailed and intricate portraits. His new series includes works in acrylic, oil, watercolor, and gauche. Lucas has a great deal of compassion for the planet and people who are less fortunate, and he takes inspiration from the experiences he has personally had during his years of charity and volunteer work.

CATALOG TITLE

PURNELL

NIEMANN-PICK

BEYOND THE DIAGNOSIS

Artist: Lucas James Xavier Kolasa

JAYLYN

BEYOND THE DIAGNOSIS

CATALOG TITLE

Jaylyn True was born with a rare platelet disorder called neonatal alloimmune thrombocytopenia. After that battle was over, I was told she would be healthy and "normal". Eight months later, after much pressing, an MRI found two rare brain abnormalities. Schizencephaly and Bilateral Perisylvian Polymicrogyria. Jaylyn had hit the rare disease "jackpot" with a total of three and also has cerebral palsy and epilepsy as a result. The Bilateral Perisylvian Polymicrogyria causes most of Jaylyn's issues as she cannot walk, talk, chew or eat very well. We are now in the process of preparing for surgery for a feeding tube. Despite everything Jaylyn has been through, she is the happiest, most loving little girl. She has the most infectious laugh you could ever hear. Her smile is also very contagious! She loves music and dances along on her knees to many of the popular hip hop dances. And there is no bigger Philadelphia Eagles fan than her! Words really cannot express how amazing she truly is! ~DeAnna, Jaylynâ&#x20AC;&#x2122;s Mom

BILATERAL PERISYLVIAN POLYMICROGYRIA Bilateral Perisylvian Polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex. Signs and symptoms include partial paralysis of muscles on both sides of the face, tongue, jaws, and throat. There can be difficulties in speaking, chewing, and swallowing and seizures. In most cases, mild to severe intellectual disability is also present. While the exact cause of BPP is not understood, it is thought to be due to improper brain development during embryonic growth. Most cases of BPP occur sporadically in people with no family history of the disorder. However, more than one family member may rarely be affected by the condition. Treatment is based on the signs and symptoms present in each person.

Pawel Ber is a painter, illustrator and sculptor. He follows in the footsteps of his grandfather, a painter. He is

a painter in the regional district Piaseczno. Pawel is also a member of the Union of Artists Painters and Graphic artists (ZPAMiG) and the Warsaw Association of Artists (WSP), jointly with the painter Marco Jaxa, a longtime promoter of the history of Piaseczno and the surrounding area. He participates in many solo and group exhibitions.

CATALOG TITLE

JAYLYN

BILATERAL PERISYLVIAN POLYMICROGYRIA

BEYOND THE DIAGNOSIS

Artist: Pawel Ber

BLY & TY

CATALOG TITLE

Brothers, Bly (12 years) and Ty (2 years), are amazing boys with a will to live and a shining light to others. Bly's gorgeous green eyes and long eyelashes adorn his freckled, rosy cheeks and fair skin. He is passionate about trains, metal-detecting, 4-wheeling and playing video games. He enjoys communicating with others, is alert, honest, and is in homeschool 6th grade.

BEYOND THE DIAGNOSIS known to affect fewer than 200 males worldwide. Bly was in heart failure as an infant, but has been stable in near normal pumping percentage ranges for ten years. He is very responsible with taking his heart medications twice a day. He receives a daily neupogen injection to increase his neutrophils (a type of white blood cell) and he responds very well to this treatment.

Ty is a radiant little boy, with joy bursting from within. His big brown eyes and long eyelashes accompany his chubby little cheeks and big grin. Ty adores his big brother and big sister. He enjoys music, playing with his siblings, throwing balls, giving hugs, waving to others, and being loved by Mommy, Daddy, family and friends. Ty has a sweet, content, and easy-going spirit. You feel good just being around him.

Ty has struggled with eating and gaining weight, which resulted in a feeding tube at 19 months old. We are so thankful for his g-tube because we know that he is getting adequate nutrition and it is fabulous for giving his heart medications and vitamins. He is delayed in reaching his milestones, especially in gross motor skills, but are encouraged by his progress, now that he has been getting good nutrition for several months. Ty's heart is weakened some, but remains stable. Like his big brother, Ty also receives a b-weekly neupogen injection to boost his neutrophils.

Bly and Ty were both diagnosed with a rare disease called Barth syndrome. Barth syndrome (BTHS) is an x-linked condition that is

Barth syndrome may have many uncertainties, but our faith will be sure to carry us through the uncertain times.

BARTH SYNDROME

~Tracy, Bly &Tyâ&#x20AC;&#x2122;s Mom

Barth syndrome is a rare, metabolic and neuromuscular genetic disorder that occurs exclusively in males, because it is passed from mother to son through the X chromosome. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings and disease course varies considerably, even among affected members of the same family. Primary characteristics of the disorder include abnormalities of heart and skeletal muscle, low levels of certain white blood cells that help to fight bacterial infections and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, such as 3-methylglutaconic aciduria/acidemia. The left ventricle of the heart may show increased thickness as a result of unusually high concentrations of elastic, collagenous fibers. The thickening reduces the ability of the left ventricle to push blood though to the lungs and thus is the prime source of potential heart failure.

Piotr Wirkijowski was born in Poland in 1960. He received a Master Degree of Architecture from Krakow Polytechnic in 1987. Four years later, he came to the USA. Since 1995 Piotr has worked as an artist and designer on projects ranging from restoration, design and execution of murals, the design of sacred spaces and sacred artifacts, to design and collaboration in execution of stained glass windows. Currently he is employed as Director of Art at Canning Studios, Cheshire CT, where he is responsible for design and execution of murals. In addition to the above occupations, he has been constantly developing his skills as a studio artist.

CATALOG TITLE

BLY & TY

BARTH SYNDROME

BEYOND THE DIAGNOSIS

Artist: Piotr Wirkijowski

TALYNN

BEYOND THE DIAGNOSIS

CATALOG TITLE

Talynn was born at 35 weeks on January 27, 2014. At birth, she was transported to CHKD and spent 3 ½ weeks in the NICU. Over the first 11 months of her life, Talynn demonstrated the following symptoms: missing part of brain, feeding difficulties, very slow growth, developmentally delayed, birthmark, nearsighted, prominent eyes, low muscle tone, recurring respiratory infections, silent aspiration, unable to communicate verbally, multiple hospitalization, sleep apnea, abnormal hair density & length.

of life was her hardest, but now that we know that she has BOS, it helps us better prepare for the hard days. Since Talynn’s diagnosis, the only additional symptom she has developed is seizures. Talynn continues to develop, but at her own pace. We will never let any of these labels define who she is. We will help her be the best she can be! ~Taylor, Talynn’s Mom

We were in need of answers as to why our daughter had these symptoms and why she was hospitalized so many times. We went through many doctors, until we found the right team of 12. Finally, the day came when we got a call from our Geneticist. She told us she suspected that Talynn had Bohring-Opitz Syndrome(BOS). On January 14, 2015, the genetic blood work came back and confirmed Talynn had Bohring-Opitz Syndrome. Talynn’s first year

BOHRING-OPITZ SYNDROME Bohring-Opitz Syndrome is an extremely rare genetic syndrome. There are fewer than 60 cases in the world. This syndrome is diagnosed by genetic testing and is a mutation in the ASXL1 gene. The leading cause of death is respiratory infections. Children with BOS can have feeding difficulties, recurring respiratory infections, sleep apnea, developmental delays, failure to thrive, abnormal hair density and length, Wilm’s Tumors, brain abnormalities, silent aspiration, and the list goes on.

Marie Jones After graduating from Moore College of Art in 1977, Marie began her career in the arts as

a freelance sign painter and has had the opportunity in the last dozen years or so to shift her focus from commercial work to fine art. Her first love is the portrait. The challenge of uncovering and getting to know a personality as the portrait takes shape is irresistible to her . Marie’s goal is not just to make a good likeness, but to create a moment of recognition that will make a lasting and meaningful impression.

CATALOG TITLE

TALYNN

BOHRING-OPITZ SYNDROME

BEYOND THE DIAGNOSIS

Artist: Marie Jones

JOEY

DECEMBER 12, 2012 - SEPTEMBER 7, 2015

Joey was born in December, 2012 weighing 10 pounds 4 ounces. The only thing larger than Joey was the love he exuded. He was a happy and healthy infant and showed his inquisitiveness at a young age. By the time he was two years old he knew his alphabet and numbers one through ten. He stunned his grandparents one night by correctly identifying the letters on the HEINZ ketchup bottle. When you asked him, "What does a Mama say," he would respond, "I love you," in a sing song voice. He loved Mickey Mouse Club House. He met Mickey and friends at Disney World and had the chance to meet Elmo a couple of months later. He loved the color yellow. He was fascinated with music from the day he was born and that love only continued to grow day by day. He loved playing on his tablet and wearing his sister's beanie. He looked forward to when his dad came home from work, as he knew he was about to be tickled and have fun! He had such a

F.I.R.E.S.

BEYOND THE DIAGNOSIS

CATALOG TITLE

loving, beautiful spirit about him and he thought he was a ladies man, always flirting with ladies of all ages. Joey started to show some signs of illness at the end of June 2015. He had a fever and was tired. He was taken to his pediatrician, urgent care and finally to the emergency room in Manchester, NH early in the morning on July 7, 2015. He began having seizures almost continuously. Treatments failed and he was taken by helicopter to Boston Children's Hospital on July 9, 2015 where he stayed in the ICU, unconscious and having continuous seizures until he passed on September 7, 2015. He was diagnosed with Febrile Induced Refractory Epilepsy Syndrome (FIRES). FIRES affects one in a million previously healthy children. The cause is not yet known however, it is hypothesized to be of viral, genetic or auto immune in nature. Though extensive testing was done, the cause in Joey's case was never found. ~Keri, Joeyâ&#x20AC;&#x2122;s Mom

Febrile infection-related epilepsy syndrome (FIRES) is a rare epilepsy syndrome of unclear etiology in which children, usually of school age, suddenly develop very frequent seizures (up to hundreds per day) within two weeks after a mild febrile illness. Seizures are very difficult to treat with conventional anti-seizure medications and often require deep sedation with anesthetics. It is possible that the syndrome is caused by an inflammatory or autoimmune mechanism but this is still to be confirmed. Immune treatment and the ketogenic diet may help. Outcome is poor with most children left with significant cognitive disability and refractory epilepsy.

Shirley deLang is an artist, responsible for creating paintings in several different mediums including oil,

pastel, watercolor and cast paper sculpture. Her work is inspired by her experiences in life with nature, walking in the country and on city sidewalks. She has enormous appreciation for the environment, which is displayed in her work of many subjects through her extreme attention to detail. Shirley has always enjoyed painting flowers, scenes and still life.

B E Y O N DTITLE THE DIAGNOSIS CATALOG

JOEY

F.I.R.E.S.

BEYOND THE DIAGNOSIS

Artist: Shirley deLang

CATALOG TITLE

SAVANNA

BEYOND THE DIAGNOSIS

Savanna Grace is 4 years old. She is my hero and a fighter. She loves everyone. She is smart and she is amazing. Savanna has 7q36.1q36.3 deletion, which means she is missing 36 genes from chromosome 7 in the long arm. She has microchrephaly , autism and encephalopathy. She has developmental delays, reflux, IBS and a lot more health issues, but that doesn't stop Savanna. It actually pushes her to fight harder. She speaks over 100 words. She can talk in sentences. She knows sign language. Savanna has the greatest personality. She loves music and is always smiling. She is just a happy little girl and super funny. Savanna has taught us so much and she will continue to defy what the doctors said she couldn't do. Like I say, the sky is the limit. ~Amanda, Savanna’s Mom

7Q36.1Q36.3 DELETION Terminal deletions at the long arm of chromosome 7 have been described more frequently in the medical literature compared to interstitial deletions at the distal 7q region. Patients with terminal deletions often have severe phenotypic features including sacral agenesis and holoprosencephaly whereas, the above mentioned interstitial deletions have characteristic dysmorphic facial features, intellectual disability, and language impairment.

Beth Johnston Many of Beth Johnston’s works are simple compositions where the focus is on covering the

effects of atmospheric conditions, sunlight or artificial light sources. Beth enjoys the challenges of creating representational paintings of many diverse subjects. Her figurative work sometimes captures the attitudes, emotions and body language of her subjects. Many depict their place in nature, at home or as part of the universe. Living in “the Ocean State”, the colors, shapes and patterns formed by water are also captured in many of her paintings. Her education and training in the sciences provides a foundation for understanding and accurately capturing the anatomy of human figures or structures in nature. Her studies at the Rhode Island School of Design reinforce that foundation.

CATALOG TITLE

SAVANNA

7Q36.1Q36.3 DELETION

BEYOND THE DIAGNOSIS

Artist: Beth Johnston

SAM

BEYOND THE DIAGNOSIS

CATALOG TITLE

In 2013, our then two year old son fell off our bed and was no longer able to stand up. Within six weeks he was diagnosed with Vanishing White Matter (VWM) disease a genetic neurological condition that destroys myelin, the brainâ&#x20AC;&#x2122;s white matter. In doing so, it permanently affects transmission of brain signals to the rest of the body. VWM primarily affects children and is untreatable, incurable and terminal. Children generally only live between 5 - 10 years after

diagnosis. It is also incredibly rare, with only 170 known living cases worldwide, meaning that little funding is available for research. Since his diagnosis, Sam has lost the ability to walk, stand or even crawl, hopping on his knees to get around. His arms shake making writing or drawing nearly impossible and his speech is slow. Despite all this, Sam is the happiest child you will ever meet. He is filled with love, joy and gratitude and we feel so fortunate to have him in our lives, even if only for a short time.

VANISHING WHITE MATTER

~Allyson, Samâ&#x20AC;&#x2122;s Mom

Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects nerves. In most cases, people with leukoencephalopathy with vanishing white matter show no signs or symptoms of the disorder at birth. Affected children may have slightly delayed development of motor skills such as crawling or walking. During early childhood, most affected individuals begin to develop motor symptoms, including abnormal muscle stiffness and difficulty with coordinating movements. There may also be some deterioration of mental functioning, but this is not usually as pronounced as the motor symptoms. Some affected females may have abnormal development of the ovaries. Specific changes in the brain as seen using magnetic resonance imaging are characteristic of leukoencephalopathy with vanishing white matter, and may be visible before the onset of symptoms.

Lucas James Xavier Kolasa With a passion for developing new techniques, Lucas J.X. Kolasa works in

B E Y O N DTITLE THE DIAGNOSIS CATALOG

SAM

VANISHING WHITE MATTER

BEYOND THE DIAGNOSIS

Artist: Lucas James Xavier Kolasa

RIKKI

BEYOND THE DIAGNOSIS

CATALOG TITLE

Rikki was born at EAFB, Alaska in August 2001. It took medical personnel 90 seconds to resuscitate her and two months in the NICU to stabilize her health. Rikki had three surgeries while in the NICU and was discharged without a diagnosis. In November 2001, a geneticist from Seattle Children's Hospital diagnosed Rikki with Kabuki syndrome. At that time, medical experts believed there were approximately 350 children in the world with the disease. Rikki is the only girl, and one of only two children in the state known to have Kabuki syndrome. She has had 33 procedures in 15 years, and has 50 underlying diagnoses. Like most children with Kabuki, Rikki has an incredibly happy disposition. She is friendly, only temporarily reserved with strangers; but once you're friends, you're forever friends. Rikki loves to play Barbies, socialize, watch movies and cook. She enjoys learning to ride her (modified bicycle), camping, and talking to her Kabuki family on social media.

KABUKI SYNDROME

~Rene, Rikkiâ&#x20AC;&#x2122;s Mom

Kabuki syndrome is a rare, multi-system disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. To date, mutation in one of two genes leads to Kabuki syndrome. The first gene is KMT2D (formerly MLL2) and the second gene, which accounts for fewer cases of Kabuki syndrome, is KDM6A. Clinical genetic testing is available for both genes.

Thea McElvy motherâ&#x20AC;&#x2122;s side of the family is full of writers, musicians, composers, and artisans of all sorts. It is

through this bloodline that she has been gifted. Thea believes that her gift is from God and that it is here for a higher purpose than just paying a few bills or winning awards. Although she does sell some works and exhibit on occasion she feels compelled to show charity to her fellow man. How can she not give to others what has been so graciously and freely given to her?

CATALOG TITLE

RIKKI

KABUKI SYNDROME

BEYOND THE DIAGNOSIS

Artist: Thea McElvy

CURREN

My beautiful two year old son Curren was diagnosed through whole exome sequencing with an ultra-rare mutation in a gene that controls brain growth and development. This mutation in his HIVEP2 gene most likely causes his severe developmental delays and chronic medical problems. It is incredibly rare. According to GeneDx there are only 3 others in the world identified as having a HIVEP2 variant, and each of these individuals have unique symptoms.. Curren loves adventures, and his favorite thing to do is get out of the house and meet new people. He thoroughly enjoys music, bath time, swimming, and playing with his brother. His favorite color is orange, and he loves bright lights and loud sounds. He is a thrill seeker, and giggles when he gets startled (more like, laughs in the face of fear!) He is a very busy boy - with speech, occupational, physical and behavioral therapies as well as part-time early

BEYOND THE DIAGNOSIS

intervention preschool each week. He works so hard to make forward progress. Curren's most recent ‘inchstones’ are learning to wave, saying "Mama", pushing up to his hands and knees, and mimicking facial expressions. He has a contagious belly laugh, and truly loves to smile. One of our specialists told me that Curren is a pioneer, and that he is writing the beginning of this story. We are so grateful to be on this journey with our son. He gives us so many things to celebrate. ~Nerissa, Curren’s Mom

HIVEP2 SYNDROME HIVEP2 is one of over 20,000 genes found in the DNA of each person. The full gene name is Human Immunodeficiency Virus Type I Enhancer Binding Protein 2, and it is a transcription factor that binds to specific DNA sequences and controls the rate of transcription of genetic information from DNA to messenger RNA. It plays a diverse role in growth and development, and is involved in brain signaling pathways, immunity development, bone growth, and the development of various hormones.

Rosalind Ridley is a retired neuroscientist who did research into neurological diseases including

Huntington's Disease and Creutzfeldt-Jakob Disease (CJD). She has written two books: Fatal Protein (about CJD, with co-author Harry Baker) and Peter Pan and the Mind of J M Barrie: An Exploration of Cognition and Consciousness. Rosalind has a scientific and artistic interest in visual perception and now spends much of her time painting, mainly in watercolor.

CATALOG TITLE

CURREN

HIVEP2 SYNDROME

BEYOND THE DIAGNOSIS

Artist: Rosalind Ridley

BEYOND THE DIAGNOSIS

CATALOG TITLE

AVA

Ava is seven years old and has Fabry Disease. She was diagnosed when she was two years old and her symptoms currently are heat intolerance, pain in feet and anxiety. She is a very strong-willed little girl. Ava loves drawing, painting and going to the park or the beach. ~Katie, Avaâ&#x20AC;&#x2122;s Mom

FABRY DISEASE Fabry Disease is a rare genetic disorder caused by a defective GLA gene. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown of a lipid in the body called globotriaosylceramide (abbreviated as GL-3 or GB-3). When proper metabolism of this lipid and other similar lipids does not occur, GL-3 accumulates in the majority of cells throughout the body. Progressive lipid accumulation leads to cell damage which causes a range of mild to severe symptoms, including potentially life-threatening consequences such as kidney failure, heart attacks and strokes, often occurring at a relatively early age. Fabry Disease can affect males and females of all ethnic and cultural backgrounds.

Jota Leal is aself-taught Venezuelan artist. He is an electronics engineer who decided to exchange numbers

CATALOG TITLE

AVA

FABRY DISEASE

BEYOND THE DIAGNOSIS

Artist: Jota Leal

KHAI

Khai was born in December, 2008. He was a happy baby. He always wanted to be read to and learn something new, which was nice when he started school. He was healthy and seldom had the slightest illness; not even a common cold or fever. In October 2015, Khai walked into his first grade class, put away his backpack and suffered a severe seizure--which lasted three to four minutes. That event has forever changed my son’s life. I was told by the emergency room doctors at the pediatric hospital that children sometimes have an unexplainable seizure and then never have a reoccurrence. As no other explanation was provided, Khai was released to return to school the following day. Over the next few months, I watched helplessly as Khai’s mental and physical condition deteriorated. His imagination and creativity faded. He developed a learning disability, could no longer write his name, suffered varying degrees of memory loss, and endured numerous episodes of loss of consciousness for hours at a time —some lasting up to seven hours. These episodes would occur

BEYOND THE DIAGNOSIS three to four days a week--usually at school. Testing ruled out any presence of a sleep disorder and eventually the episodes ceased with no explanation from the local physicians of their cause, discontinuance nor chances of reoccurrence. Since that October, Khai has experienced mental and physical decline. At times, he is unable to communicate and has developed medication induced Lupus which limits his ability to walk due to severe pain and inflammation in his joints. Khai was diagnosed with Cavernous Malformation. The doctors explained that Khai had bleeding on the brain, and he had developed neurological deficits including weakness in the arms or legs, problems with memory or balance, or difficulties with vision or speech due to the Cavernous Malformations. Because of the bleeding on his brain he is also at risk of hemorrhagic strokes and seizures. Today, through his trials, Khai is the happy bubbly child he has always been. He loves playing with action figures, watching movies, swimming and playing at the park when he feels up to it. ~Shaunte, Khai's Mom

CEREBRAL CAVERNOUS MALFORMATION Cerebral Cavernous Malformations (CCMs) are collections of small blood vessels in the brain that are enlarged and irregular in structure which lead to altered blood flow. Cavernous malformations can occur anywhere in the body, but produce serious signs and symptoms only when they occur in the central nervous system. Cavernous malformations in the brain and/or spinal cord are called cerebral cavernous malformations. Approximately 25 % of individuals with cerebral cavernous malformations never experience any related medical problems. Others may experience serious symptoms such as headaches, seizures, paralysis, hearing or vision deficiencies, and bleeding in the brain. These malformations can change in size and number over time, but they do not become cancerous. This condition can be sporadic or it can be inherited in an autosomal dominant pattern. Mutations in the KRIT1(CCM1), CCM2, and PDCD10 (CCM3) genes cause cerebral cavernous malformations. Treatment depends upon the symptoms. Seizures are usually treated with antiepileptic medications or surgery.

Colin Howel is a design engineer by profession and paints for fun. He has been painting in his spare time for

3 years or so now and gravitated very quickly to portraiture which he finds to be an incredibly rewarding way to spend time. Colin’s art qualifications are limited to A level Art History which he studied between the ages of 16-18. This has been supplemented in the last three years by the vast amount of practical advice he has received from artists and amateurs alike on social media. He paints predominantly in oil on stretched canvas.

CATALOG TITLE

KHAI

CEREBRAL CAVERNOUS MALFORMATION

BEYOND THE DIAGNOSIS

Artist: Colin Howel

LILY

CATALOG TITLE

Lily is affectionately called “Lilybug” and “Lovebug” by her family, and has acquired a collection of all things ladybug. This came about from her late great-grandmother, Constance, whose name she carries as her middle name. Constance loved symbols of “luck”, especially ladybugs, and this has carried onto Lily. Lily is sweet and spunky, fearless and independent, silly and curious, loud and expressive, smart and stunningly beautiful. Lily loves all things to do with water; drinking it, swimming, playing at her water-table and taking baths. She loves Elmo, Mickey Mouse, and all things kittens. She loves her stuffed animals, but loves her dog Samson even more. Lily has made a fun game of “Let’s throw food on the floor to Samson!” Lily loves shopping with Momma and Grammy. As if all eyes are on her, she waves to everyone from her stroller. Her big, beautiful

BEYOND THE DIAGNOSIS

brown eyes steal the hearts of strangers everywhere she goes. Each day we watch her explore the world around her, and we find ourselves getting excited about the simple joys in life again. The love she has for the wind on our walks, the way she gazes at the trees and flowers, the way she yells and points at birds. Lily is also always on the move as we chase her around the house from one toy too the next. It's her world we live in and we are always on her time. Her infectious enthusiasm has brought love and joy to so many already. Lily has so many important family members, friends and a loving nanny that constantly “shower” her with her time and support. Even with all that Lily has been though and all she will face in the future, she is an inspiration to all that know her. She handles her disease with grace and strength, never letting it slow her down. With a rare disease, hope is all you have and this little girl is surrounded by it. ~Courtney, Lily’s Mom

CYSTINOSIS Cystinosis is a rare, multisystem genetic disorder characterized by the accumulation of an amino acid called cystine in different tissues and organs of the body including the kidneys, eyes, muscles, liver, pancreas and brain. Generally, cystinosis is broken down into three different forms known as nephropathic cystinosis, intermediate cystinosis and non-nephropathic cystinosis. The age of onset, symptoms, and severity of cystinosis can vary greatly from one person to another. Nephropathic cystinosis presents in infancy and is the most common and severe form. Early detection and prompt treatment are critical in slowing the development and progression of symptoms associated with cystinosis. The kidneys and eyes are the two organs most often affected. Individuals with nephropathic or intermediate cystinosis ultimately require a kidney transplant. Non-nephropathic cystinosis only affects the corneas of the eyes. Cystinosis is caused by mutations of the CTNS gene and is inherited as an autosomal recessive disease.

Debralee Elizabeth Marianna Iacobucci is known in the world of art as her moniker, DEMI. She is a

graduate from Parsons School of Design with a BFA in Illustration. She loves children and is a children's book writer and illustrator as well as a freelance illustrator for editorial since 2002. She began the Portfolio Program at New Urban Arts in 2003 which helps students prepare portfolios before submission to college/university in pursuit of a career in the arts. She owned and operated Gallery DEMI in downtown Providence. She taught book illustration at The East Side Art Center. She was a workshop teacher for RISD’s Free For All Saturdays. Her fine art is heavily influenced by her most intimate relationships and surroundings. She does all that she can to create a better world for people to live in.

CATALOG TITLE

LILY

CYSTINOSIS

BEYOND THE DIAGNOSIS

Artist: Debralee Elizabeth Marianna Iacobucci

CATALOG TITLE

ZACHARY

Zachary is such a happy little boy, a joy for all that know him. He has had a lot of struggles in his short life, but he doesn't let that stop him. He was diagnosed with Aarskog syndrome shortly after birth. He also has a condition called Metatarus Adductus, that causes his feet to curl and can make walking harder. At 1 1/2, we found out that he is developmentally behind in all areas, some likely due to the Aarskog. Shortly after he received an Autism diagnosis. We just found out that he has severe eye issues, also related to the Aarskog. He has severe astigmatism, bilateral hyperopia and the less common bilateral amblyopia. He will likely wear glasses the rest of his life.

BEYOND THE DIAGNOSIS

Even with all this, you will always see a smile on his face. He faces his challenges head on, and is making great strides. The once nonverbal little boy is gaining new words almost daily. He is becoming more social, and both his fine and gross motor skills are improving. Zachary greatly enjoys playing with his older siblings. He likes to watch Mickey Mouse Clubhouse. He has a major obsession with school buses and is in love with trains. Loud noises and lights make him happy; he is a little sensory seeker. He loves to be outside, and spends time chasing the kitty around. To us, he is the perfect little guy and we could not be more proud of him. ~Patricia, Zacharyâ&#x20AC;&#x2122;s Mom

AARSKOG Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability. Aarskog syndrome primarily affects males who exhibit a characteristic set of facial, skeletal, and genital abnormalities. In some cases, female carriers may develop a mild form of the disorder. Symptoms may vary from case to case. Males with Aarskog syndrome often have a rounded face with a broad forehead. Additional characteristic facial features include widely spaced eyes, drooping of the eyelids, downwardly slanting eyelid folds, a small nose with nostrils that are flared forward, an underdeveloped upper jawbone, and a widowâ&#x20AC;&#x2122;s peak. Affected individuals may also have an abnormally long groove in the upper lip and a broad nasal bridge.

Kelli Jarasitis has been a freelance artist for 20+ years, while staying home to raise her three children. After

volunteering at her childrenâ&#x20AC;&#x2122;s elementary school, and loving it, Kelli went back to school to get certified to teach art. She has taught art at all levels K-12 and loves her job! Kelli is currently getting her Master of Arts in Art Education from Boston University. Her specialty is portraits.

CATALOG TITLE

ZACHARY AARSKOG

BEYOND THE DIAGNOSIS

Artist: Kelli Jarasitis

MAX

CATALOG TITLE

Scientist, movie maker and perhaps future President of the United States – Max is a strong-willed young man who avoids risk and genuinely cares about others. He is very outgoing and seems to easily find ways to connect with people. He has a silly sense of humor, enjoys jokes of all types and readily shares his joy with the world. He always seeks a better understanding of the world around him. His thirst for knowledge and ability to soak up new information amazes us. He is a passionate advocate for rare disease and has used his charm, charisma and perseverance to woo politicians and help important legislation pass through the House of Representatives. He considers himself famous on Capitol Hill, but

BEYOND THE DIAGNOSIS

will always take the time to stop and sign an autograph. He loves to play board games and card games and reigns as house Uno champion. He is an excellent Poke-Monster artist and has a good musical ear. He is a very creative Lego master. He takes pride in his work – whether it be artwork, schoolwork, or playtime projects. He maintains an extensive collection of stuffed animals, each with very specific memories of where he was when they met and how they were obtained. He enjoys cuddling, bedtime stories and bedtime songs. He is a great joy in our lives and the world is a better place because of him. ~Lisa, Max’s Mom

NOONAN SYNDROME Noonan syndrome is a genetic disorder that is typically evident at birth. The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low posterior hairline; a typical chest deformity and short stature. Characteristic features of the head and facial area may include widely set eyes; skin folds that may cover the eyes' inner corners; drooping of the upper eyelids; a small jaw; a depressed nasal root; a short nose with broad base; and low-set, posteriorly rotated ears. Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone, curvature of the spine, and outward deviation of the elbows. Many infants with Noonan syndrome also have heart defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs and thickening of the ventricular heart muscle. Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, learning difficulties or mild intellectual disability, failure of the testes to descend into the scrotum by the first year of life in affected males, and/or other symptoms and findings.

Sara Breslin is an emerging Rhode Island artist that specializes in portraiture and illustration. Breslin

graduated from the University of Rhode Island with a Bachelor’s degree in Fine Arts in 2014. She has been part of many group shows, including multiple private and public exhibitions for Beyond the Diagnosis as well as the BETA Artist Residency show and STAG: The Street Access Galleries Network, with Newport Art House in 2015 and 2016. Sara is currently being represented by 101 Treads Gallery in New Haven, Connecticut. She also works in a gallery in downtown Newport, RI as an Art Consultant and part of its management team.

CATALOG TITLE

MAX

NOONAN SYNDROME

BEYOND THE DIAGNOSIS

Artist: Sara Breslin

OLIVE

CATALOG TITLE

BEYOND THE DIAGNOSIS

Olive has a very sweet temperament and is a very pleasant baby (when she is feeling well). She is responsive to her environment and wants to be included in activities. She loves to lay on her back and roll around and play with toys. At daycare, she loves to watch and play with the other kids and listen to music. Olive adores her 3 year old big brother, Leo and her eyes are glued on him anytime he's in the room. The feeling is mutual from her brother and he recently told me he likes everything about his sister. Her giggles are the purest sound of delight I have ever heard in my life. She is a joy to all those she meets and her smile lights up a room. She is eating baby foods and gobbles everything up! She does fight back when she is examined and being tested at her medical appointments which makes me swell with pride knowing she has the ability to fight and use her muscles when needed. She was born at 4:44am and those numbers are said to represent angels being all around you and I certainly believe that and take it to heart. ~Brooke, Oliveâ&#x20AC;&#x2122;s Mom

ALFIâ&#x20AC;&#x2122;S SYNDROME Alfi's syndrome, or the 9p minus syndrome, is a very rare chromosomal disorder that causes mental and physical disabilities. The symptoms of Alfi's syndrome are very similar to the symptoms of Down syndrome, which include mental retardation, mongoloid eyes, abnormally shaped forehead, unusually flat midfacial regions, long upper lip, cleft lip and palate, anteverted nostrils, arched eyebrows, white flat nasal bridge, small ears, short nose, small jaw, short and broad neck, genital defects, congenital heart defects, extra fingers, long digits, predominant whorls on fingers, seizuredisorders, and poor muscle tone. Children with this disorder are described as overly friendly and trusting of strangers.

Robert Francis Whelan is an award winning portrait artist who has been practicing his art since his early

twenties, has mastered several forms of art over the many years of his career. He has adjusted his focus on art to concentrate solely on painted portraiture. Robertâ&#x20AC;&#x2122;s portrait painting has evolved into award winning works of art that have given him recognition and established him as a fine portrait painter.

B E Y O N DTITLE THE DIAGNOSIS CATALOG

OLIVE

ALFI'S SYNDROME

BEYOND THE DIAGNOSIS

Artist: Robert Francis Whelan

AVERY

BEYOND THE DIAGNOSIS

CATALOG TITLE

Avery is a very happy little boy who lives with a rare genetic gastrointestinal disease called Microvillus Inclusion Disease. He is absolutely in love with animals and waves hello to them any chance he gets. He is very smart. He knows where his hair, ear, nose, and teeth are and he is still progressing. Avery went through so much at such a young age in the struggle to find out what exactly was wrong and why he was continually dehydrated and not absorbing anything he ate. At three months old, an electron microscopy and genetic testing told us that he had this disease. Although he has Microvillus Inclusion Disease, nothing holds Avery back. He is extremely vocal and screams with excitement all the time. He is always smiling, unless you are a nurse of course! ~Stephanie, Averyâ&#x20AC;&#x2122;s Mom

MICROVILLUS INCLUSION DISEASE Microvillus Inclusion Disease is an extremely rare inherited intestinal disorder that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorption of necessary nutrients due to incomplete development and/or degeneration of certain cells of the wall of the small intestine. In infants with Microvillus Inclusion Disease chronic diarrhea and malabsorption may result in severe dehydration, deficiency of necessary nutrients, a failure to grow and gain weight at the expected rate, and/or disturbance of the body's balance of acids and bases, which is essential to regulate the body's composition of fluids. Microvillus Inclusion Disease is inherited as an autosomal recessive genetic trait.

Dimitry Gritsenko is an American who is the son of Ukrainian immigrants. Dimitry took art classes as a child and by mid-way through his high school years he was drawing and painting constantly. Dimitry enrolled at the Academy of Art in San Francisco, where he studied for a year and a half. Now he is taking the knowledge he gained through his education and putting it to use through competitions, festivals, and galleries in the future.

CATALOG TITLE

AVERY

MICROVILLUS INCLUSION DISEASE

BEYOND THE DIAGNOSIS

Artist: Dimitry Gritsenko

CATALOG TITLE

BECKETT

BEYOND THE DIAGNOSIS

Beckett is from Cypress, Texas and suffers from SYNGAP1-related intellectual disability, which is an ultra-rare and severely disabling neurological disorder. Approximately two-thirds of children with this condition have some form of epilepsy. His symptoms include hypotonia, behavioral disorders, language impairment, and oral dyspraxia. Beckett began his four-year diagnostic odyssey when he was 4-months old and was missing milestones that his twin sister Pyper was achieving. After visiting 19 specialists and having several diagnostic tests, Beckett received his diagnosis.

SYNGAP1

When he was 5, Beckett was also diagnosed with epilepsy. Since being treated, he has progressed wonderfully and is beginning to problem solve and speak more words. He has been in many different therapies during his life beginning at the age of 8 months. He currently is in speech therapy, occupational therapy and music therapy. Some of his favorite things to do are swim and listen to music. He loves to play with Pyper and his three older siblings. His laugh is contagious and his smile lights up a room. Beckett is a fighter and tries hard at everything he does. He never stops, he is our inspiration. ~Monica, Beckett’s Mom

SYNGAP1 gene mutations have been associated with autism or autism spectrum disorders, nonsyndromic intellectual disability, delay of psychomotor development, acquired microcephaly, and several forms of idiopathic generalized epilepsy. Onset is in the first year of life and the clinical features may be found in different combinations. A majority (but not all) of patients show epilepsy (myoclonic, clonic and clonic-tonic seizures also during sleep, absences or drop attacks.) Other observed clinical characteristics include hypotonia, unsteady gait, strabismus, hip dysplasia and some dysmorphic features.

Ian Mohon was born in Texas and spent a short time in the Navy. Ian received a Bachelor of Fine Art degree and

for the last 10 years his work has been featured by New England’s finest art galleries. A painter, photographer and printmaker, Ian’s recent work has re-focused on his painting with an emphasis on portraiture, both of architecture and people. Now living in Providence, Rhode Island with his wife and daughter he splits his time between family and creating and working as gallery manager for the Atrium Gallery, with the Rhode Island State Council On the Arts.

CATALOG TITLE

BECKETT SYNGAP1

BEYOND THE DIAGNOSIS

Artist: Ian Mohon

BEYOND THE DIAGNOSIS

ART EXHIBIT

WOULD LIKE TO THANK SANOFI GENZYME FOR THEIR PATRONAGE

CATALOG TITLE

OUR GOAL IS TO PUT A FACE TO THE 7,000 KNOWN RARE DISEASES. Please consider supporting Beyond The Diagnosis with a donation to the Rare Disease United Foundation.

Victor

Donations can be made on our websites at: www.rarediseaseunited.org

& www.beyondthediagnosis.org

or mailed to Rare Disease United Foundation P.O. Box 16294 Rumford, RI 02916 RARE DISEASE UNITED FOUNDATION IS A REGISTERED 501(C)3, TAX ID#45-3231740

Rare Disease United Foundation P.O. Box 16294 Rumford, RI 02916 www.rarediseaseunited.org www.beyondthediagnosis.org Phone: (401) 434-0052 info@rarediseaseunited.org

CATALOG DESIGN BY ALMA D. JIMENEZ www.alma-graphic.design