Reaching Out Fall 2018

Reaching Out The Newsletter of the Cornelia de Lange Syndrome (CdLS) USA Foundation, Inc.

Fourth Quarter 2018

Highlights Director’s Message: We Got This!

Spotlights: Dental Health in Individuals with CdLS Connecting with Those Who Understand: The Importance of CdLS Support Groups

Super Siblings A Peek Inside the Sibling Gathering at the 2018 National Family Conference 302 West Main Street, #100 Avon, CT 06001-3681 860.676.8166 toll free: 800.753.2357 fax: 860.676.8337 www.CdLSusa.org

302 West Main Street #100 Avon, CT 06001-3681 800.753.2357 • www.CdLSusa.org

Director’s Message We Got This!

Greetings All, It has been a real privilege meeting so many of you at our recent conference and hearing your stories. To see your children smiling, dancing, and feeling right at home was heartwarming.

The sense of community and family was extraordinary. I also felt your fear and anxiety for what you are facing in your day-to-day life raising an individual with CdLS and the less spoken worry of what the future holds.

I cannot think of any greater act than raising or fostering another human being. It is a job that does not come with a training manual and is fraught with unexpected storms of uncertainty. Moreover, our success in the role of raising a child cannot be measured by things like return on investment. Yet, it surely is an investment of time and love. In spite of this, things do not always unfold the way we hope.

In my experience, our response to challenges is what makes the difference between success and failure. When dad is composed at crucial times, a child’s life can remain stable. A child will feel the father’s strength and bonds of trust will deepen. Moms are the sun of the entire family. If she is hopeful, she can challenge any problem or hardship with composure. Think of how the sun shines brightly above the weather – rain, tornado, or violent storm – the sun is always shining despite what is visible to us. Mothers are like that. We inherently possess that inner power.

This matters because our children always look to us as an example of how to navigate life’s many twists and turns.

By facing whatever comes up, we grow and become strong people who can deal with anything – kings and queens of life. We are all forging a new path for the future and showing others how to navigate the landscape of rare disorders.

Let us stay forever hopeful and never lose our fighting spirit no matter how demanding our situation may be. Take a pause to take care of yourself and breathe. Then remember, there is no night that is not followed by the morning. #CdLSStrong.

Warmly,

Bonnie Royster Executive Director

In This Issue

Our Mission The Cornelia de Lange Syndrome Foundation is a family support organization that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS, and others with similar characteristics, make informed decisions throughout their lives.

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Dental Health in Individuals with CdLS Connecting with Those Who

6 Understand: The Importance of

CdLS Support Groups

Super Siblings: A Peek Inside the

8 Sibling Gathering at the 2018

National Family Conference

REACHING OUT

9 Event Highlights

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10 Board Corner

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2018 Research Grant Recipients Announced

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Reaching Out

Published Since 1977 (ISSN 1097-3052)

CdLS Symposium Recap

By Antonie D. Kline, M.D., CdLS Foundation Medical Director Some of you were able to attend our wonderful National Family Conference in Minneapolis at the end of June. For those that didn’t, I truly hope you can attend at least one of these events some day. Most of you probably are not aware about the Scientific and Educational Symposium held the day and a half before the Family Conference. This was our eighth such symposium, and it has been consistently well attended and of high caliber. This year, over 40 scientists, physicians, allied health professionals and students attended. There were 23 speakers, five trainee presentations and five projects discussed that were small grant recipients from the CdLS Foundation. There were six genetic testing-related companies that sponsored the event. There were 10.5 hours of category 1 continuing medical education (CME) credits, and an additional hour of a talk over lunch by Natera.

The American Journal of Medical Genetics will be publishing the abstracts, always helpful in making more people aware of Cornelia de Lange syndrome and its issues.

There were a number of talks about cohesin, the protein complex coded for by the genes that lead to CdLS when mutated. Cohesin is a global regulator of many other genes, especially when those genes need to be active. This is the reason that so many body organ systems can be involved in CdLS. Several talks described findings in animal models showing further global effects of CdLS gene mutations. And, to complete the more research-oriented talks, previously in Drosophila assessment of a specific treatment for CdLS was found to be encouraging. Research on cellular derivatives in the lab on this treatment was positive, however work in mice on this treatment did not show promising results in terms of the brain, kidney and heart, and excessive doses would be required to have any effect.

More clinical talks included those on specific groups of patients with CdLS and on patients with other conditions with overlapping findings and molecular mechanisms. A recently described new oral finding was described along with management. The ongoing feeding study in CdLS was updated. Finally, there was a session devoted to behavior and in addition to a clinical talk showing that behavior is responsive to applied behavioral therapy, there was a panel which included family members of children with various behavioral issues and several experts on behavior. This panel was highly appreciated by the audience. All in all, the symposium was highly informative and exciting.

Cornelia de Lange Syndrome Foundation, Inc. Incorporated December 1981 email: info@CdLSusa.org www.CdLSusa.org

Board of Directors

PRESIDENT. . . . . . Patrick Lyons, NH VICE PRESIDENTS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Eric Johnson, CT . . . . . . . . . . . . . . . Lynne Kerr, M.D., UT TREASURER. . . . . . . Mike Feehan, PA SECRETARY . . . . . . . . . . . . . . . . . . . . . . . . . . . . .Katherina Terhune, Ph.D., KY DIRECTORS. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Mike Christie, MA . . . . . . . . . . . . . . . . Dennis Drislane, CA . . . . . . . . . . Jennifer Gerton, Ph.D., MO . . . . . . . . . . . . . . . . . . . Jim Kesting, MO . . . . . . Arthur Lander, M.D., Ph.D., CA . . . . . . . . . . Julia O’Connor, Ph.D., MD . . . . . . . . . . . . . . . . . . . Emily Turner, AL . . . . . . . . . . . . . . . . . . . Angie Young, FL

Professional Staff EXECUTIVE DIRECTOR Bonnie Royster MEDICAL DIRECTOR Antonie Kline, M.D. FAMILY SERVICE MANAGER Deirdre Summa, L.M.S.W. FAMILY SERVICE COORDINATORS Lynn Audette, L.M.S.W. Whitney Rinaldi, B.S.W. DEVELOPMENT MANAGER Kristi Larson DEVELOPMENT COORDINATOR Alexandra Lowry COMMUNICATIONS COORDINATOR Gabrielle Nadeau GRAPHIC DESIGNER/WEB MASTER Francesca Scognamiglio FINANCE MANAGER Julie Brodnitzki OFFICE COORDINATOR Bonnie Kraft

All information contained herein is for the reader’s personal interest. Articles on treatments, medications, or procedures, etc. are not guides for self-treatment. Questions should be discussed with your doctor or other appropriate professionals. The CdLS Foundation does not endorse any product advertised and/or mentioned in Reaching Out.

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Dental Health in Individuals with CdLS

child be seen by the dentist? All individuals with CdLS should have their teeth brushed (or brush themselves) at least twice a day. An electric toothbrush can be very well tolerated, especially if the child enjoys vibrations.

The parent should always help brush a child’s teeth after the child has attempted to brush them. When small, the child should be gently held to brush the teeth. A Collis Curve toothbrush can be helpful since it brushes all sides of the teeth at once (can be purchased online). Toothpaste with fluoride is always recommended. Flossing should be done whenever possible using floss picks. Dental cleaning should be done twice a year, and when older, three times a year to prevent periodontal disease if able to be managed in the office. If the child or adult is not cooperative, cleanings may need to be done in the hospital under sedation every 3-5 years.

By, Douglas K. Clemens, D.M.D., Pediatric Dentist Families with a child with CdLS had the option to have a consult with Pediatric Dentistry during the National Family Conference.

Ideally, they should all have a pediatric dentist. The youngest child seen at Conference is usually around 12 months; the oldest has been over 50 years.

Reasons for choosing a dental consult include questions about care for the teeth, “adult” vs. “baby” teeth, braces, sedation for dental work and accidents involving teeth.

Orthodontics has been tolerated by some children with CdLS. There has to be cooperation to be able to hold still, not only for x-rays and impressions, but also for regular visits and adjustments. Those that have had braces have generally had good results. It should be remembered that this is an optional treatment. Finally, accidents involving the teeth should be evaluated in the context of the harm to the child. A phone call to the child’s dentist can help guide management.

There are some common questions that arise during the dental consults. Do my child’s teeth appear normal?

When will the baby teeth fall out and the adult teeth come in? Should the baby teeth be pulled to make room for the adult teeth? Often in CdLS there can be missing or absent teeth and all of the teeth take a long time to erupt (come in). The primary (baby) teeth have delayed eruption and often the first tooth does not come in until after 12 months. A pediatric dentist should be established when the first tooth erupts or around 12 months of age.

The pediatric dentist will review oral hygiene and diet recommendations including avoiding juices, especially apple, and nothing to eat or drink after brushing at bedtime.

This year at the Scientific Symposium, I presented a recent dental observation that I have seen only in children with CdLS around 12 years old. Below the lower front central incisors, there is an attachment from the inside of the lower lip to the gingiva (inner gum tissue) called the frenum. In some pre-teens and teenagers with CdLS, this frenum becomes tight and pulls the gingival tissues down on the front of the teeth, exposing the bone underneath.

This creates a situation that could lead to gingival recession and/or bone loss and potential future tooth loss. I have participated in repairing this frenum with a periodontist.

If this is seen, a referral to an oral surgeon or periodontist for a frenectomy (removal of the frenum) leads to appropriate care. Anesthesia is required, and whenever a child or adult with CdLS receives anesthesia, special attention has to be made to the small chin and jaw. Also, avoid using Versed (Midazolem) as an anesthetic agent.

Permanent (adult) teeth take a long time to erupt as well.

It is helpful to have a panorex x-ray around 6-7 years of age, to see if any teeth are missing and the positions of the adult teeth. Because the permanent teeth take a long time to erupt, there is no benefit to having the primary teeth pulled. This would only create a space that would take a long time to fill in. I recently received a phone call from a pediatric dentist of a child I had seen at Conference who wanted to sedate the child in order to pull out the remaining primary teeth. I had to explain that this is not necessarily beneficial for the child due to delayed eruption.

Also, it would put the child at risk with anesthesia.

There are great guidelines and recommendations for anesthesia on the CdLS Foundation website. I highly recommend that any parent whose child will undergo anesthesia share these articles with their anesthesiologist

Other common questions: How often should the child’s teeth be brushed? Is there a particular toothbrush recommended? Do I need to floss? How often should the

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prior to any procedure: http://www.cdlsusa.org/docs/ anesthesia-and-cdls.pdf and http://www.cdlsusa.org/ docs/publications/anesthesia/BestPracticesPhysiciansAnesthetic.pdf. We are also always available for dental questions through the Ask the Experts section of on the CdLS Foundation website.

CdLS Registry: Enroll Today!

There are so many questions that accompany a diagnosis of CdLS. Questions you have are probably the same as many other families across the country, and world. To get answers, medical professionals rely on information from families to guide their hypotheses and research.

This is why the CdLS Foundation has established a CdLS Registry at the Coordination of Rare Diseases at Sanford (CoRDS).

Located on page 17 is the Dentistry Medical Specialty Card, which provides valuable care information that can be brought to your doctor.

You can help researchers progress forward into determining more about the causes and manifestations of CdLS. For those of you interested in participating in this registry, visit http://bit.ly/CdLSReg to begin the process.

Multidisciplinary Clinic for Adolescents and Adults at Greater Baltimore Medical Center This Foundation-managed, free clinic occurs twice yearly at Greater Baltimore Medical Center (GBMC) in Baltimore, MD. Foundation Medical Director Antonie Kline, M.D., Director of Pediatric Genetics at the Harvey Institute for Human Genetics at GBMC, has led these free clinics since 2001. Any individual, age 12 or older with CdLS, can attend with their families. Clinics occur each spring and fall and can accommodate up to eight individuals. A Family Service Coordinator from the Foundation always attends to provide support.

Participants receive one-to-one consultations with specialists from pediatric ophthalmology, gynecology, pediatric dentistry, genetics, gastroenterology and nutrition, and psychiatry and behavioral psychology.

If you’re interested in attending, call the Foundation at 800.753.2357 or email familysupport@CdLSusa.org.

CLINIC DATE April 6, 2019

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Connecting with Those Who Understand: The Importance of CdLS Support Groups

desire. Support groups involving others in the CdLS community may help fill the gap between medical treatment and the need for emotional support.

Some of the primary benefits of support groups include: (1) Solidarity- realizing that you are not alone and that there are others who share similar struggles, feelings, and experiences is extremely beneficial, and can help reduce isolation and fear; (2) Emotional Expression- support groups can provide the emotional safety for one to be open and expressive without worry of being judged or not being understood; (3) Transformation of Informationsupport groups are an effective way to share and receive helpful information and educational resources, and to distribute new ideas; (4) Stress Reduction and Coping Skills- support groups help people work through stressful situations and difficult emotions while simultaneously receiving support and encouragement from other group members; (5) Enhanced Self-Awareness- we can develop new and helpful perspectives and insights through participating in a support group and learning from others; and (6) Hopefulness- being with others who truly have empathy and understanding for our situation can help instill hope for even the most difficult circumstances.

By, Katie Nikzad-Terhune, Ph.D., LCSW, Assistant Professor, Northern Kentucky University, CdLS Board of Directors I had the privilege of attending the 2018 CdLS Family Conference in Minneapolis in June. This was my second time attending Conference, and I was once again amazed and humbled by the experiences I shared with our wonderful CdLS families and our committed Foundation staff and volunteers. During one of my presentations at Conference this year I became unexpectedly ill, leading to an abrupt disruption of my presentation. The CdLS families and staff who were in attendance took immediate action to help and care for me. Several families stayed by my side until I was well again, and no one was upset or frustrated that the presentation they came to see was unexpectedly interrupted. Going through this unforeseen experience at Conference reminded me of what I already knew…that our CdLS families are some of the most empathic, selfless and giving people I have ever had the privilege of knowing. Their response to me was a testament to the importance of supporting one another through difficult and unpredictable circumstances.

The CdLS Foundation continually strives to respond to the needs of families by providing relevant and appropriate levels of support for caregivers, family members and individuals with CdLS. If you have not yet had the opportunity to participate in a support group, consider looking into it as another element of your care. If you have not yet utilized support services from the Foundation, or feel that it is time to seek new and/or additional services, please consider exploring what the CdLS Foundation has to offer.

Our biennial Conference provides many valuable resources and opportunities for the families who attend, including medical and behavioral health consults, and diverse presentations and workshops that address pertinent needs.

One of the most significant components of Conference is the direct support provided for families who attend.

This year’s Conference included various support groups, including those for mothers, fathers, grandparents, and for adults with CdLS.

Having the opportunity to be at Conference again this year was further confirmation of just how vital it is to be connected to others who share our experiences, and how offering support groups can lead to enhanced self-care, advocacy and so many other helpful outcomes.

The Significance of Support Groups

For more information on family support and other services provided by the CdLS Foundation, visit www.CdLSusa.org or contact Deirdre Summa, Family Service Manager, at familysupport@cdlsusa.org.

Support groups provide individuals and families with a unique platform for sharing their stories and experiences.

For many in a specific disease community, emotional needs are not always addressed through routine medical treatment, and sometimes our own families are not able to provide the emotional support or understanding we

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A Closer Look at the Importance of Support One definition of support, according to the Cambridge Dictionary is, “to give encouragement and approval to someone or something because you want the person or thing to succeed.” Support, in any form, can be beneficial for a family to get the guidance they need.

It is an important component of self-care and can help combat emotional fatigue. Support can bridge isolation, normalize an experience and help address emotional and physical strain.

answering questions. They strive to help a family shift from hopelessness to hopefulness. They normalize a family’s experience – they provide support of a family’s journey, beginning from diagnosis and learning about CdLS and throughout many life’s paths they will encounter.

At the 27th Biennial National Family Conference in Minneapolis, Minnesota there was an overwhelming abundance of support. Along with family members coming together during downtime to share growing pains and stories of success, the Conference held support groups for moms, dads, grandparents, siblings and adults with CdLS. Each group was designed to offer a safe space and a “judgement-free zone”.

For more information on the services we provide and how to connect with other families, please contact Family Services at 1.800.753.2357 or families@CdLSusa.org.

“We both enjoyed the conference and hope to come again sometime in the future. We loved the social networking and meeting other families. Just knowing we are not alone was the main key. Then to have professional people speak gave us new insight for what to expect in the future. We learned a great deal and hope to keep in contact with some of the families we met.”

- Angela and Brock Marx, parents of Aaron

Support groups are segmented to give individuals the opportunity to be with people who have similar roles within the family dynamics and are likely to understand one another. The goal of the program is to give members the time to share, connect, be heard and ultimately let them know they are NOT alone. When conference commenced attendees left with new friendships and lifelines that they could reach out to.

“We were very impressed with the Grandparents seminar at the conference. It was very open for all input and every one had a chance to speak. Our grandson is in the upward mobility group and is also very verbal; fast on his feet and must be eyes on at all times. He is in 7th grade this fall but still a very slow learner. It was interesting to see how some of the grandparents have accepted 100% care of a child with special needs in their retirement years.”

The role of Family Service staff, whether at Conference or not, is to speak with families and help them identify what they need. They bridge the gap from the unknown to being part of a community of understanding and support. Family Services begins with offering emotional support to all family members, providing reassurance and

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- Ardean and Judy Brasgalla, grandparents of Samuel

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Super Siblings: A Peek Inside the Sibling Gathering at the 2018 National Family Conference

great to hear everyone’s stories, and see how our siblings have impacted us. A lot of us had to grow up faster than many of our peers, but have also gained a sense of insight, maturity, and empathy that many never attain.”

We’d like to thank Elizabeth Poplawksi, sister of Stephen, for sharing her experience.

Elizabeth, 37, lives in Atlanta, GA with her husband Kevin and two daughters, Emily and Hailey. She is a Pediatric Physiatrist at Children’s Healthcare of Atlanta – she works on a team that includes physical, occupational and speech therapists, orthotists, psychologists, teachers and case managers. They provide care for children with congenital and acquired conditions including brain injuries, spinal cord injuries, cerebral palsy, spina bifida, muscular dystrophy, cancer, and many others.

“I learned more about the other siblings and the struggles we have as siblings.”

Nalani, sister of Elvis

Her brother, Stephen, is 39 and lives in a suburb of Dallas at Denton State Supported Living Center (DSSLC), which is about 30 minutes from their parents. DSSLC is a great community for Stephen to work, play and live his life as independently as possible in a supportive environment.

Growing up Stephen has always looked forward to seeing the mailman and now he is the community mailman. It’s a perfect job for him, as he gets to ride his bike all through campus to visit staff and friends. He also participates in Special Olympics and weekly dances. When asked to describe their sibling bond, Elizabeth simply stated, “He has taught me many things – intangible things such as patience, determination and empathy, and tangible things such as sign language.”

Dave Cataline, another sibling who participated in the group, felt, “The sibling social was a wonderful opportunity to meet other siblings and share our experiences. Sometimes the siblings of a person with CdLS are often left out of sharing experiences so they don’t realize that what they are going through are some of the similar things other people are going through. It is a unique opportunity for us to support one another in living our daily lives with someone with CdLS. I thoroughly enjoyed meeting, talking and sharing experiences with others. It wasn’t overwhelming. It was very laid back and enjoyable.”

Elizabeth was 12 years old when she first attended Conference in 1993 in Columbus, OH. She had the opportunity to participate in the sibling group and enjoyed every moment of it. She returned the following year and was able to reconnect with friends. In 1999, she had the chance to volunteer and was hooked. Elizabeth attended the next 6 conferences, helping out wherever she was needed. “It’s exciting to see old friends, make new friends, and to share tears and laughter. I didn’t miss another conference until my summer babies were born in 2014 and 2016. It was great to be back in 2018.”

There was a fantastic group of teen/young adult siblings, and Elizabeth is looking forward to seeing the group grow and become more active in the Foundation.

If you are interested in joining the Sibling Support Group on Facebook, search “CdLS Siblings Support Group” and request to be added.

Share your Mailbag or Super Sibling Story!

Send your story and photo to outreach@CdLSusa.org.

To Elizabeth, the sibling group is an essential part of Conference because there are so many siblings in different stages of life, but they share a very important bond. “It was

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Event Highlights

Kaden’s Boot Camp Stephanie Fonseca reached out to the CdLS Foundation almost immediately after she first laid eyes on her friend’s son, Kaden. “I wanted to help raise awareness about this little known syndrome that Kaden and his family are experiencing.”

Bocce Tournament The first annual “Rolling for Kensley” bocce tournament took place this summer in Youngstow n, Ohio.

Teams of four paid an entry fee of $100 with $75 donated directly to the CdLS Foundation and $25 towards the tournament jackpot.

The Owner-operator at SKFit took her passion of personal training and boot camp fitness programs to create a fundraiser event in celebration of Kaden’s second birthday. Everything was going great and then “About 20 minutes before we started it torrentially down poured and ruined all the decorations!” But that didn’t stop the nearly 100 participants from enjoying the food trucks, music, face painting, local vendors, goody bags and boot camp challenges – all to help raise awareness and funds in celebration of a special little boy.

Kensley, her parents and aunt were featured on their local news station, WKBN, on the day of the event.

Nicole, shared with the news team how incredibly supportive her community has been leading up to the event, “It’s amazing -- it’s nothing we ever expected. It’s just overwhelming. We’ve had so many donations and people reaching out to us and people that can’t make it are still calling and wanting to participate in any way they can.”

“We are happy to present $500 to the CdLS Foundation in honor of Kaden’s birthday. Next year we will double that!” Another portion of the proceeds went towards birthday boy Kaden’s therapy needs.

The event posters shared a piece of Kensley’s challenges and personality, “Three-year-old Kensley has faced multiple challenges on a daily basis, but no matter what she has been through she is still a high energy, playful, happy little girl. Kensley has been a little warrior, always sporting a beautiful, genuine, contagious smile that melts every heart that she comes in contact with. We are happy to support the CdLS Foundation to help other children born with the disorder.”

2018-2019 CALENDAR November 3 Multidisciplinary Clinic for Adolescents and Adults Baltimore, MD

March 17, 2019 United Airlines NYC Half Marathon New York, NY

Attendees of the event enjoyed live music, a Chinese auction and Crickets Bar & Grill’s famous chicken and ribs dinner.

November 4 TCS New York City Marathon New York, NY

April 6, 2019 Multidisciplinary Clinic for Adolescents and Adults Baltimore, MD

Amanda, event organizer and aunt to Kensley shares, “Our benefit was a complete success, the amount of generosity our community showed my niece was amazing. We ended having twenty teams participate in the bocce tournament and were able to donate $1,500 to the CdLS Foundation.”

November 9-10 Board of Directors Meeting Phoenix, AZ

April 27, 2019 Midwest Family Gathering Omaha, NE

November 27 #GivingTuesday

May 5, 2019 TD Five Boro Bike Tour New York, NY

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February 16, 2019 Southeast Region Family Gathering Fort Myers, FL

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May 18, 2019 Northeast Family Gathering Maplewood, NJ

Fourth Quarter 2018

302 West Main Street #100 Avon, CT 06001-3681 800.753.2357 • www.CdLSusa.org

Board Corner

On August 29th, the Board of Directors met to discuss some upcoming projects for 2018/2019. The development of our PBS special is well under way. Once complete, our 5-minute CdLS Spotlight will air more than 500 times and be seen by more than three million viewers.

We need to capitalize on this not only from an exposure standpoint, but also from a financial standpoint—this is a great opportunity for the world to hear about CdLS. Funding for the PBS Special was graciously donated by multiple anonymous donors and their generosity fills me with gratitude.

By Patrick Lyons, President, Board of Directors; CdLS Foundation As the blissfully warm days of summer come to an end here in New England, and my wife and I send our kids back to school, I thought it would be a good opportunity to pause, look back at the Foundation’s 2018 accomplishments and provide some insight as to what the Board of Directors will be focusing on during the upcoming months.

Additionally, in 2019, we intend to focus more on our Major Gifts Program and look to gain additional sponsors for our events. In any organization, revenue is key and the CdLS Foundation is no different. We need to keep our foot on the gas pedal and find new ways to bring in revenue so that we can continue to fund the Family Conference, grow our support staff for our CdLS families and carry on our research.

First, it’s impossible for me to not mention the CdLS National Family Conference and what a wonderful time I had while attending. I hope you share the same opinion I do when I say that this year’s conference was informative, an absolute blast and executed with precision. You could feel the love in the room anytime we were together with our CdLS family. This year I brought my son Luke (10, CdLS) and my daughter Delaney (13) with me and had a chance to utilize Jindi’s Place for Luke and Kids Explore! for Delaney. This gave me the opportunity and time to focus on the specific topics I needed more information on, based on Luke’s needs. I was thrilled to use our new online scheduling and registration. It was also amazing for me to see how many awesome dads came out to our “dad’s night”. We had the opportunity to share our stories and found a way to relate to each other, as dads, through this special bond that most of our guy friends back home may never understand.

I’m also excited to announce that this November, we plan to launch our updated website. We intend to have three areas of focus: Families, Professionals and Research.

Our staff was able to work with a local company in Connecticut that is helping build the new website probono. This is a much-needed update as we have to ensure that our information is easily accessible and viewable from mobile devices and from multiple platforms.

In November, the Board of Directors will meet again for the Fall Board meeting in Arizona, where we intend to approve our budget for 2019. Thank you again to all the members that make up our CdLS family!

A special thanks to our Executive Director, Bonnie Royster, for her leadership and dedication to our families.

Thank you to our amazing staff, volunteers, host families, doctors, speakers, board members and conference committee—we could not have done this without you.

The Family Conference is a massive financial expense that cost the CdLS Foundation $240,000 to host. As we look to the future, we need all the support we can get from our friends, families and community partners to help keep this amazing event going for years to come because bringing families together is at the heart of the CdLS Foundation’s mission.

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On the Cover: Rebecca “Becky”

was devastated, but two days later she got in touch with the Foundation and her whole outlook changed. They learned that Becky would grow at her own pace; the doctors took her off the NG tube, fed her thickened food and she began to thrive.

Becky Oberlander, 20, from Staples, MN attended the 2018 CdLS National Conference with her mother and grandmother. She was the Reaching Out cover prize winner from the teacup auction, as well as the recipient of the adult stroller, that was generously donated by Adaptive Mall. “The front wheels on the stroller Becky had would get stuck and I couldn’t get it to move without tipping her back and pushing it. Then one time when we were shopping the back wheel fell off. Thank goodness Becky did not fall out of the chair…The new chair has been a blessing…Becky goes with us everywhere and having a chair that I can set up quickly and she fits nicely in has been so good for Becky.”

Now Becky is 4’9” and 103 lbs. She struggles with reflux and has a heart defect called pulmonary valve stenosis. When she was 15 she was diagnosed with supraventricular tachycardia (SVT), which is a heart rhythm issue, but with medication it is under control.

Overall Becky has been healthy and happy.

In the fall, she will be entering her last year in high school. She enjoys going into band class and sitting with the students while they play their instruments. Becky also does Special Olympics with her classmates. If Becky is not in school, she is with grandma and grandpa. When the weather is good, her grandma takes her out riding on the golf cart through their woods. At home, Becky and her dad will go cruising all around on their sideby-side ATV. She also likes to go shopping.

WELCOME NEW FAMILIES

The family has attended two conferences and really enjoyed their experiences. “It was so nice to meet other families and other kids/adults with CdLS and share experiences with them. It was also great to reconnect with a few families from past events in Minnesota.”

Wanda, Becky’s mom, was so grateful that they were able to attend the Conference. In Wanda’s eyes it was really important for Becky to be with her CdLS family.

Arkansas Katrina and Courd and daughter Ariyah born November 2016

Massachusetts Margo and Charles and daughter Talitha born 2004 and son Isaiah born 2008

Michigan Mandi and Jason and daughter Adelyn Rose, born June 26, 2018

Pennsylvania Katie and Tyler and daughter Poppy born October 7, 2016

Maine Sarah and Michael and daughter Hannah, born, February 18, 2017

When Becky was born she weighed 3 lbs. 13 oz. and was 17 inches long. The first six months were challenging, there were weekly weigh-ins because she was not gaining weight. At about five months, doctors diagnosed Becky with failure to thrive and she was put on an NG tube for feeding. Finally, the family met with a geneticist and was told she had CdLS. At first, Wanda,

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302 West Main Street #100 Avon, CT 06001-3681 800.753.2357 • www.CdLSusa.org

2018 Research Grant Recipients Announced

Use of Augmentative and Alternative Communication Devices (AAC) in Children with Cornelia de Lange Syndrome (CdLS), Patti J. BaileyCaudill, M.S. CCC-SLP, The Milton J. Dance Head & Neck Center, Greater Baltimore Medical Center

As part of its 2018 research grant program, the CdLS Foundation awarded a total of $27,750 to researchers studying various aspects of CdLS. The following projects were funded:

The purpose of this study is to survey parents/caregivers of children with CdLS age 2-18 years using an online tool to maintain confidentiality. Through this survey, we seek to understand the use of high tech AAC devices in children with the CdLS. If individuals are not using AAC devices, we seek to identify barriers to evaluation and use.

If individuals are using AAC devices, we seek to identify how devices were accessed, which devices are used, and if communication was positively impacted.

Functional Interactions Between BRD4 and NIPBL in Drosophila, Michelle Pherson, Ph.D., Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine This study will analyze the effects of Fs(1)h (BRD4) Nipped-B (NIPBL) and cohesin on each other’s chromosome occupancy and comparing their effects on gene expression in Drosophila will provide new insights into the potential mechanisms by which BRD4 and NIPBL mutations can give rise to similar developmental deficits in CdLS. In addition to further work on the molecular mechanisms of how these proteins control gene transcription, these studies could open the door to testing the effects of various drugs that target BET domain proteins and histone acetylation on gene expression and development, which could provide clues as to new potential therapies.

REACHING OUT

Researchers are required to present their findings at the next CdLS Scientific and Educational Symposium and write an article about their study results for the CdLS Foundation newsletter, Reaching Out.

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Opportunities to Participate in Research

A Speech, Language and Feeding Study Dr. Cheri Carrico is conducting a study of the speech, language and feeding issues found in individuals with CdLS. She is looking for any families that would be willing to complete a questionnaire and submit photos of their family member's face and hands to participate in a research study. Participation in this study will assist her in further identifying the characteristics associated with the speech, language and feeding concerns of individuals with CdLS and in providing appropriate recommendations for treatment.

Opportunity to Participate in a Study Exploring Access to Medical Care Shaydah Kheradmand is conducting a research study to explore access to medical care as it relates to the specific needs of an individual with CdLS. The survey does not ask for any personal information.

The questions focus on three categories: access to medical care such as travel distance and insurance coverage; coordination of care; and caregivers’ overall opinion of interactions with healthcare providers, such as medical doctors and therapists.

If you complete the questionnaire, Dr. Carrico would be happy to respond to questions that you might have about feeding, speech, or language. Please attach a note to the front of the questionnaire letting her know of your questions and concerns, that you would like her to address.

You are eligible to participate in this study if you are: • Over age 18 • The primary caretaker of an individual with CdLS who is five years old or under (if you care for more than one individual with CdLS, please answer questions based on the youngest individual)

Please to contact Dr. Carrico to sign up for or if oyu have questions in regards to the study. Dr. Cheri S. Carrico, Speech-Language-Hearing Clinic, Elmhurst College, 190 Prospect Ave., Elmhurst, IL 60126, USA; at 630.617.3196; or at cheric@elmhurst.edu.

The survey takes approximately 15-20 minutes to complete. Participation is voluntary and completely anonymous. Should you have any concerns or feel you do not want to proceed, you can skip a question or stop at any time.

Management and Treatment Guideline Cards

The study is being conducted by Shaydah Kheradmand, a genetic counseling intern at the University of Maryland School of Medicine, with the support of a CdLS Foundation Clinical Advisory Board member and genetic counselor at the University of Maryland Alena Egense, MGC, CGC. If you have any questions or concerns about the study, please contact the principal investigator of the study, Shannan Dixon, MS, MGC, Master’s in Genetic Counseling Program Director at sdelany@som. umaryland.edu or 410.706.4713.

T h e Fo u n d a t i o n h a s Management and Treatment Guidelines for infants to adulthood. These cards are available to anyone – including families and professionals. They can be used as a resources to help someone to know what signs to look for, what evaluations are needed and what other medical procedures are recommended for any age range. For example, the Early Childhood card highlights dental guidelines and provides information on how to get support. For more information or to request your own set, contact Family Services at 800.753.2357 or families@CdLSusa.org.

The survey will be open until December 10, 2018.

To take this survey, visit: https://www.surveymonkey. com/r/cdlsaccess2018.

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Fourth Quarter 2018

302 West Main Street #100 Avon, CT 06001-3681 800.753.2357 • www.CdLSusa.org

Thank you Thank you isn’t enough to show our deep appreciation to everyone who attended both the Scientific Symposium and National Family Conference. Your dedication to learning more about CdLS and strengthening your relationships within our community is truly amazing.

We also want to thank everyone who volunteered at the Symposium and Conference, your commitment to support not only the Foundation but each individual with CdLS and their families was heartwarming. We would not be able to provide workshops, consultations, a Conference store or a friendly face to answer questions without your support.

Without all of you, the success of our Conference simply would not be possible.

REACHING OUT

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Thank You to Our Generous 2018 CdLS Scientific & Educational Symposium and CdLS National Family Conference Sponsors: Nicole O’Connor & Shanachie Studios

Meet us at our booth!

Joe Churchman and Family

www.centogene.com

Dori Drislane

The Haaland Family

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Fourth Quarter 2018

302 West Main Street #100 Avon, CT 06001-3681 800.753.2357 • www.CdLSusa.org

Award Recipients Honored at 2018 Conference

Special Recognition Award: Barbara Galyean, M.Ed., M.Rdg.Sp., Ed. Diag., LSC

The CdLS Foundation relies on volunteers around the country to successfully implement many services and ideas. The following individuals were recognized at Conference for their years of dedication and efforts to create new programs, enhance scientific endeavors and provide a significant impact on the Foundation, individuals with CdLS and their families.

Special Recognition Awards are presented to individuals or organizations whose efforts on behalf of the Foundation have made a specific impact. This award may be given to a nominee for a single, significant and notable contribution to the Foundation.

Dr. Laird Jackson Award: Mary Pipan, M.D.

Sue Anthony Award: Joanne Gersuk

The Dr. Laird Jackson Award, inspired by the Foundation’s first medical director, recognizes an individual’s significant medical or scientific contributions toward understanding CdLS and improving the lives of people affected by the syndrome.

The Sue Anthony Award is the Foundation’s highest award and is named for our primary Founder and the co-originator of Reaching Out. Sue Anthony represented innovation, commitment, integrity, and enduring contributions to families living with CdLS. Mark Etcheberry Award: Francesca Rissland

Outstanding Philanthropy Award: Dennis Drislane

The Mark Etcheberry Award is presented to an individual who has contributed his or her efforts and talent to increase awareness of CdLS and the Foundation by developing creative and original methods in spreading our mission in cyberspace.

The Outstanding Philanthropy Award recognizes outstanding individuals or organizations whose long-term contributions of financial support, time and talent have made a significant impact for individuals with CdLS. Dennis’ daughter, Dori Drislane, accepted the award on behalf of her father.

The John King Award: Eric Johnson The John King Award is presented to an individual whose long-term efforts on behalf of the Foundation have made a notable impact. The recipient of this award is a supporting member of the Foundation family who has served the Foundation, formally or informally, by advancing its mission.

President’s Award: Richard Haaland, Ph.D. The President’s Award is presented to an individual whose considerable, longterm efforts on behalf of the Foundation have made notable impact and advanced its mission.

REACHING OUT

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302 West Main S Avon, CT 06001 800.753.2357 •

$ Cut this out and share with your child’s doctor.

The CdLS Foundation has Medical Specialty Cards. These cards provide valuable care information in the following specialties: behavior, cardiology, dentistry, development, gastroenterology, gynecology, neurology, ophthalmology, orthopaedic, and otolaryngology.

Contact Lynn Audette at families@CdLSusa.org to request your own Medical Specialty Card(s), which you can also share with your child’s care team members. To the left you’ll see an example of the dentistry card.

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Fourth Quarter 2018

302 West Main Street #100 Avon, CT 06001-3681 800.753.2357 • www.CdLSusa.org Donations from 7/1/18 -

Gifts that Count In Honor/Celebration Adam Jackson Donna and Paul Jackson Amy Haaland & Phil Dean Eric Bergstrom Joyce and Richard Bergstrom Rachael and Kevin Clayton Charles and Sharon Haaland Dianne and Richard Haaland Richard Haaland, Ph.D. Ankita Rakhe Andrew Patitucci Mary Tossona Austin J. Staggs Charles and Kortni Staggs Benny W. Fromhartz David Podell Brynnlee Beekman Bonita K. Boxell Mary and Glen Dehaven Wiladene and Robert Heaston Delaney DeMaria Vincent Berardini Diane Friedman Sandra and Stuart Kaufman Dianne & Richard Haaland Richard Haaland, Ph.D. Dylan Taggart Marty Yi Elise Keys Kathy and Joel Kane Eric M. Loftus Karen Szukalski Eric Solomonson Tina Doskey Gabriel Davis Tammy Weaver Jack Pollard Anonymous (3) Michael Ratner Patricia and Hydar Mirza

REACHING OUT

Jake A. Marcus

Stephen J. Gersuk

Erin Shindle

Best Lawns, Inc.

Elizabeth and Kevin Poplawski

Marie and Robert Swavely

Jesse R. Bassett

Valerie Lessa

Geri Maness

Dianne and Charles Lessa

Jessica L. Smith

Wendy K. and Andrew Miller

Rebekah Spedaliere

Betsy and Loren Caswell

Kaden Thomas

In Memory

Linda Volgraf Robert Zuczek

Stephanie Fonseca Allison Tryba Kaitlin I. Stajkowski

Thomas and Susan Fugate

Kelly and Barry Stajkowski

Marlene and James Nierenberger

Katherine E. Luyt Clifford Lepiane and Lynette LePiane Kolten K. Griffin

Angela Michelle Ray Board & Staff of the CdLS Foundation

Lily Molett Board & Staff of the CdLS Foundation Ed Miller Lisa A. Chuilli Board & Staff of the CdLS Foundation Carol and Robert Chuilli Lori DeWeese Constance DeWeese Lysander I. Shinnick Kate Smith

Belinda and John Waller

Annemarie Sommer

Lillian Drury

Mindy and Larry Van Winkle

Josef and Carol Neu

Sara Benson

Natalie S. Nikzad

Susan Oettle Manuel J. Garcia Laura Garcia Olivia Hoogland Dawn Peterson Olivia Roberts Kathleen and Lyndon Bruessel Wallace and Joan Dunn Albert and Sara Hancock Pat McCann The Tiny Social Club Payton G. McDonald Lorraine and Dennis Koss Peyton Howland Joyce and Wilson Brown Ann Wonneberger Rachel Busch Jean Halverson Maryanne and Doug Busch Raymond Halverson Richard Haaland Dianne and Richard Haaland Robert W. Carter William Carter Samuel Brasgalla Sherri Besch

Lynn and Robert Schrum

Michael Schaff

Diane Fromhartz

Marion Leonard

Conrad A. Hersberger

Pamela Rieser

Lapel Lions Club

Anonymous

Elaine Whalen

Mary Opitz and Brian Luyt

Cheryl and Dave Clark Carol and Richard Locker Ernest Tryba Marlene and James Nierenberger

Marc and Andrea Needlman

Pamela Strait Elizabeth Strait Richard Matarese Paula Johnson Claudia Pagliardo

Ethan Walters Penelope Keating

Victoria Patisaul

Candace and Shane Kelly

Kimberly and Charles Patisaul

John R. Ketchem

Joseph F. Haaland

Darlene Haines

Eric Bergstrom Lauren and Michael Edmondson

John W. Christie Anonymous Patricia Betz Elaine Braddock Blaize Buckley Melissa Franklin Angela and Gregg Garguilo Lynne Kerr and Hunter Jackson Tonya and Bradley Kingston Christa McDermott John Pagnoni Rosalind Pappas Marilyn Parsons Deborah Rinehart

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302 West Main S Avon, CT 06001 800.753.2357 •

Our Deepest Sympathy Lily Molett

Lisa Ann Chuilli

Angela Michelle Ray

April 26, 2007 - July 2, 2018 Daughter of Antonio Molett 916 Silks Drive Midwest City, OK 73130 And Heather Cross-Molett & Dustin Larsen 2000 N Glade Avenue Bethany, OK 73008

October 8, 1972 - May 30, 2018 Daughter of Robert and Carol Chuilli 12400 Wagonwheel Court Midlothian, VA 23113

July 28, 1970 – December 20, 2017 Daughter of Cathy and Frank Ray 107 L G Ray Lane Erin, TN 37061-4903

“Cherish the good memories of your child and

remember: hold on to hope, rest when you’re weary, take time to grieve, and let your heart mend.”

–Excerpt from “When Angels Take Flight: the Loss of a Loved One with Cornelia de Lange Syndrome” If you would like to speak with Foundation staff or connect with other families who have lost a child with CdLS, please call 800.753.2357.

‪ Please charge $ _________ to my credit card ‪ Once ‪ Monthly for ________months Charge my gift to: ‪ VISA ‪ MC ‪ AMEX

302 West Main Street #100 Avon, CT 06001-3681 800.753.2357 • www.CdLSusa.org

Yes, I want to GIVE more to individuals with CdLS and their families.

Enclosed is my tax-deductible gift of: ‪ Other $ ‪ $500 ‪ $250

Expiration: ________ Security Code: ___________ Print name on card: __________________________

‪ $100

‪ $50

‪ $40

Signature: __________________________________ Mailing address:

‪ I have included the CdLS Foundation in my will or trust.

Email address: _______________________________

Donate online at www.CdLSusa.org.

One hundred percent of your contribution is tax deductible.

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Card #: ___________________________________

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Fourth Quarter 2018

Cornelia de Lange Syndrome Foundation, Inc. 302 West Main Street, #100 Avon, Connecticut, USA 06001

NON-PROFIT U.S. POSTAGE PAID HARTFORD, CT PERMIT NO. 751

Your Support Changes EVERYTHING! When you make a charitable contribution, you’re giving vital, valuable knowledge through connections made with families and experts from diverse medical, educational and therapeutic specialties. With your support the CdLS Foundation can continue to be a community that celebrates the triumphs and challenges of this rare syndrome.

Your gift will be a true reflection of how you are providing endless opportunities by Reaching Out, Providing Help, and Giving Hope.

We make it easy to donate in any of the following ways: online at donate.cdlsusa.org, using the coupon inside this issue, or call: 800.753.2357.