World Down Syndrome Awareness Day

WORLD DOWN SYNDROME AWARENESS DAY 21st March 2022 This booklet was compiled by the Malta Health Student’s Association with the aim of raising awareness for Down Syndrome on World Down Syndrome Awareness Day.

TABLE OF CONTENTS

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WHAT IS DOWN SYNDROME?

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HOW IS DOWN SYNDROME DIAGNOSED?

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INTERVIEW WITH GRAZIELLA BARTOLO PIZZUTO ABOUT HER DAUGHTER, FAITH

THE ACTIVITIES CORNER

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SERVICES AND HELP CENTRES

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ACCREDITATION

WHAT IS

DOWN SYNDROME? Down Syndrome is a genetic disorder caused by abnormal cell division, resulting in an extra full or partial copy of chromosome 21. This extra genetic material alters the typical developmental process, and gives rise to the physical features of Down Syndrome, amongst other characteristic features of the genetic disorder.

How Many Babies are Born with Down Syndrome?

Down Syndrome is regarded as the most common chromosomal condition. From 1993 to 2012, a total of 166 babies with Down Syndrome were registered with the Malta Congenital Anomalies Register, with an average of 8 births per year.

Types of Down Syndrome: There are three types of Down Syndrome. The particular chromosome that causes the genetic disorder must be looked at to differentiate between the types, as the observable physical manifestations of each type are similar.

1. Trisomy 21: Approximately 95% of people with Down Syndrome have Trisomy 21. With this type of Down Syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the typical 2 copies.

2. Translocation Down Syndrome: Translocation Down Syndrome affects about 3% of the people with Down syndrome. It occurs when an extra part or a whole chromosome 21 is present, but it is attached or “trans-located” to another chromosome rather than being a separate chromosome 21.

3. Mosaic Down Syndrome: Mosaic Down Syndrome affects about 2% of the people with Down Syndrome. Mosaic is defined as a ‘mixture’ or ‘combination’. In keeping with the name, this type of Down Syndrome occurs when an individual has a combination of some cells with 3 copies of chromosome 21, and other cells which have the typical 2 copies of chromosome 21. Individuals with Mosaic Down Syndrome may share the same features as others with Down Syndrome, however, they may have fewer features of the condition due to the presence of a number of cells with a typical number of chromosomes.

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WHAT IS

DOWN SYNDROME? What are the Risk Factors for Having a Child with Down Syndrome?

Some parents have a greater risk of having a baby with Down Syndrome. Risk factors include: Advancing maternal age. A woman's chances of giving birth to a child with Down Syndrome increase with age because older eggs have a greater risk of improper chromosome division. This risk begins to increase after 35 years of age. However, children with Down Syndrome are also born to women who are under 35 years old.

Being carriers of the genetic translocation for Down Syndrome. Both men and women can pass the genetic translocation for Down Syndrome on to their children.

Having previously had one child with Down Syndrome. Parents who have one child with Down syndrome and parents who have a genetic translocation themselves are at an increased risk of having another child with Down Syndrome. A genetic counselor can help parents assess the risk of having a second child with Down Syndrome.

What is the Life Expectancy of a Person With Down Syndrome?

Life spans have increased dramatically for people with Down Syndrome. Nowadays, people with Down Syndrome have a life expectancy of more than 60 years, depending on the severity of the health problems which they experience.

Is There Any Way to Prevent Down Syndrome?

No, there is no way to prevent Down Syndrome. If you are at high risk of having a child with Down Syndrome or you already have one child with Down Syndrome, you may want to consult a genetic specialist before becoming pregnant.

A genetic specialist can help you understand your chances of having a child with Down Syndrome, based on the genes that you or your partner has. They may also guide you to the prenatal tests that are available and explain the pros and cons of testing.

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HOW IS DOWN SYNDROME

DIAGNOSED? Screening Tests Screening tests often include a combination of a blood test, which measures the number of various substances in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which allows for observation of the baby.

During an ultrasound, the technician looks at the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk for Down Syndrome.

Screening tests are reliable, however, abnormal results occasionally are found despite a typical baby. Similarly, test results may come out as normal despite there being abnormalities in the fetus.

Diagnostic Tests Diagnostic tests are usually performed after a positive screening test in order to confirm a Down Syndrome diagnosis. Types of diagnostic tests used include: • Chorionic Villus Sampling (CVS) — examines material from the placenta.

Amniocentesis — examines the amniotic fluid (the fluid from the sac surrounding the baby).

• Percutaneous umbilical blood sampling (PUBS) — examines the blood from the umbilical cord.

These tests look for changes in the chromosomes that would indicate a diagnosis of Down Syndrome.

Is Down Syndrome Inherited?

Usually, Down Syndrome is not inherited. Rather, it is caused by a mistake in cell division during early development of the fetus.

Translocation Down Syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down Syndrome have this type of Down Syndrome, with a small number being caused by inheritance.

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MEET

GRAZIELLA & FAITH

Graziella pictured with her daughter, Faith

Graziella Bartolo Pizzuto is a Maltese mother to her two-year-old daughter, Faith. Faith is described as a ray of sunshine by all those who meet her. She is also a child with Down Syndrome. We asked Graziella whether she could answer a few questions to aid in the increase of awareness for Down Syndrome on World Down Syndrome Day. “After an almost two-year wait, I got pregnant with my first and only child, Faith,”. “My husband and I were over the moon and the overall experience throughout the pregnancy was one I will cherish forever. The bond I shared with my unborn girl was amazing”.

“We would soon discover that our little one has an extra chromosome, a chromosome which Faith rocks really well!”, Graziella said.

“Faith is an active, friendly, stubborn and determined little girl and the more she grows into the person that she is meant to be, the more our love grows towards her. She is one happy girl, she does get moody too just like any other child but she is able to change someone’s day from a gloomy to a bright one in seconds. She just makes us feel so loved by her. I teach her a lot of life skills, but really and truly she teaches me a lot about life itself. She is a blessing!”, Faith's mother shared.

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ASKING

GRAZIELLA Diagnosis of Down Syndrome

Graziella holding Faith as a newborn

Q:When did you learn of Faith’s diagnosis with Down Syndrome?

A: “We were given the news at birth. During our routine ultrasound appointment at 12 weeks pregnant, we had done a nuchal scan which didn’t show any markers or signs that the baby would have Down Syndrome. In fact, all along the pregnancy we were told that everything was perfectly fine with our baby.”

Q:Was the diagnosis hard for your family to accept?

A: “Very much! Although I must say, my husband accepted the fact that our daughter has Down Syndrome almost immediately. However, it took me longer to come to terms with the diagnosis.”

Q: Were you given any advice on what could be done to help your daughter after the diagnosis?

A: “Yes we were. However, we were mostly provided with generic information which of course does not apply to each individual with Down Syndrome. I would have preferred if the information provided was according to our daughter’s individual needs.”

Q: Which professionals did you seek help from?

A: “At first we didn’t know who or what to seek. We were guided and followed by the midwives and the doctor at Mater Dei. However, soon after I sought help from the Perinatal team, as I was psychologically crushed.”

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ASKING

GRAZIELLA How Having Down Syndrome has Affected Faith

Faith

Q: Do you feel Faith is treated differently due to her having Down Syndrome?

A: “Definitely not by her family, our friends and her carers at the nursery. As her parents, we try to expose her to many people, different environments and situations which we believe will help both her as an individual to grow equally to her peers and society itself. We try to show her that, although she might need more attention and sometimes her needs might differ a bit from those of other ‘typical’ children, she is still a child, and all she needs is to be loved and accepted for who she is, like we all do after all!”

Q: Have you experienced any negative experiences because of Faith’s diagnosis?

A: “As a person, no. As a mother, yes.”

“We still get the occasional stares and people who won’t bother to even smile back at our very sociable girl who literally waves and says “hi” to everyone. We still are told many things which, at first, used to hurt a lot more than they do now. I’ve been told many times that I was chosen by God to be Faith’s mother, and whilst I thank God everyday for giving me this precious gift, I do reply that I never asked to be chosen. I’ve also been told that everything happens for a reason, that I was chosen because I’m strong, that other people wouldn’t have coped with the situation as well as I have, and so on and so forth.

I’ve learnt to reply with one simple answer, that we are no different than any of them are, we are not special and neither is our child, we are normal people who have been faced with this situation and like anything else in life we have adapted. I have found strength because I had no other option and, as a result, I am now driven by love in all that I do, and definitely not by any superhero powers!”

Q: How does Faith’s school adapt to her needs?

A: “Faith is two and a half years old, so she still goes to nursery. I must say that the decision to send her to nursery has been a very beneficial one, since her carers are absolutely amazing. She is treated just like the other children, and whenever she needs that little extra help, she is seen to by her carers. At this stage, her needs are pretty much similar to any other toddler.”

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ASKING

GRAZIELLA How Having Down Syndrome has Affected Faith

Faith pictured wearing a costume

Q: Due to the improved awareness about Down Syndrome, has everyday life become easier for both you and Faith?

A: “I am one who tries with all my might to raise awareness on a daily basis via social media and any other available means. And yes, I get a lot of positive feedback, which makes me realize that the message, both mine and that of other mum advocates, is getting across and is reaching many people in our society.

However, as already stated earlier, there are still those occasions when we meet people who either do not want to be educated about the condition because they think some things can never happen to them, or they think they know enough already. Having said that, most people utter words with good intentions, but, of course, they are not necessarily the right words to use. I do not blame them, as before I had my daughter, I was one to find myself in similar situations to my present one where I’ve been left lost for words. And the latter is the main reason why I have created social media platforms which help people in that educational transition.”

Q: Have you experienced any positive experiences because of Faith’s diagnosis?

A: “The greatest benefit I would say was my personal growth and how my perceptions towards life have changed immensely. I have Faith’s diagnosis to thank for that! As for the positive experiences, Faith is given numerous opportunities as a child to show how much she is more alike to other children, rather than different.”

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ASKING

GRAZIELLA Parenting a Child with Down Syndrome

Faith pictured with her mother and father

Q: Are there particular elements of parenting your child that are stressful?

A: “Of course! First of all, Down Syndrome is not just about the facial features, but it comes with a package including medical issues, which might crop up from time to time, as well as intellectual disability, which causes delays (minor or major, depending on the individual). That alone is already very stressful to just think about as a parent. Then, I would say that the most stressful elements are therapy and the constant issues with the authorities with regards to therapy.

Therapy requires a lot of planning, scheduling and searching for the right therapist for the individual needs of the child. It also requires that the exercises executed at each therapy session are repeated many times at home. The reinforcement of these activities by the parents helps children reach their milestones in a timely manner, and allows their development to be parallel to that of other children their age. Therapy is also very expensive and its cost might cause financial burden on families such as my own. We are provided close to no assistance by the Government and this is not just stressful, but also hurtful, as believing in inclusion means that every child gets what he/she needs and unfortunately we are still way behind when it comes to this!”

Q: How do you cope with tough days?

A: “From my personal experience, I have learned that no matter how much I have accepted my child’s diagnosis, and no matter how much I positively advocate towards more awareness on the topic, there will always be days which are hard to handle. The hospital visits, the waiting for medical results, when I am close to giving up on a milestone and the worries about the future are all hard pills to swallow. But then, I remind myself that we have absolutely no control over what tomorrow brings, even if my child was born without the condition. The future is unknown to all of us. So, on the bad days, I pause, I cry, if I must, and then, I resume one step at a time, one day at a time. It works.”

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ASKING

GRAZIELLA Parenting a Child with Down Syndrome

Faith pictured with her mother and father

Q:What worries you about the future?

A: “Like any other parent of a child with special needs, my main concern is what will happen to my daughter when her father and myself are no longer around. Our main aim is to help Faith grow into an independent adult. We do not put a limit on her potential, but try our very best to help her fulfill it. We are, however, aware that she might need a little more assistance and right at this very moment, we have no assurance as to how and by whom that assistance will be provided.

We want her to be loved, taken care of, live a happy life and we pray to God that when we are no longer here, she will find the right people to do so. We wish for and we work towards a more inclusive society, which provides equal opportunities to all, including the assistance mentioned to be provided by the Government. That will definitely help us ease our worries.”

Q: What advice do you have for parents with newly diagnosed children?

A: “To any new parent who has reached out to me and to all those who are yet to go through a similar experience, I’d say this…

There is no manual on how to go about the process of accepting a diagnosis. We are all different and we all deal with the diagnosis either similarly or very differently. There is no right or wrong way, nor a standard amount of time to accept the diagnosis. But one thing I do suggest is to share the journey with other parents going through the same situation as yours. We call it the scenic route, a bit longer to reach the destination, but it is well worth the trip! And, believe in your child. No one will believe in their potential unless you do! The challenges are many, but the rewarding joys are immeasurable.”

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ASKING

GRAZIELLA Concluding Remarks Q:Where can parents find help in Malta when parenting a child with Down Syndrome?

A: “As soon as a baby with Down Syndrome is born, the parents can immediately contact the Down Syndrome Association Malta (details may also be given by the hospital staff) and they can ask for assistance, such as guidance on how to proceed and even ask for personal assistance from a member of the association, to share experiences with and have them be there for them. I also form part of the DSA Malta committee and I’m always happy to help when new parents reach out to me.”

Q: Any words of encouragement to raise awareness on Down Syndrome?

A: “When Faith was born, I grieved the baby I thought I’d have. I broke down and saw my dreams for my child would not come true. I didn’t know anything about Down Syndrome and it scared the life out of me. I now know that my reaction was a natural one caused by shock, but also, by the lack of knowledge and education I had about the condition. So, instead of letting the regret get the best of me, I decided to share my experience publicly over and over, share our journey through social media and any other available means to let people know what Down Syndrome really is and what it’s like to parent a child diagnosed with Down Syndrome. I do not try to sugarcoat the condition because it is what it is, but I also focus on the positives and try to end the myths about Down Syndrome as much as I possibly can.”

Up & Up with Faith Follow Graziella and Faith’s journey through their personal blog on Facebook, which they use to raise awareness for Down Syndrome!

Facebook page: https://www.facebook.com/upandupwithfaith

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THE

ACTIVITIES CORNER Fine Motor Skills Fine motor skills are defined as the ability to make movements using the small muscles in our hands and wrists. These skills are required to grasp objects, use scissors, write and construct, for example.

Activity 1.Envelope and popsicle sorting

2.Colour/ Shape Match Sticky Wall

3.Painting/ Colouring/ Sticking

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THE

ACTIVITIES CORNER Gross Motor Skills Gross motor skills are those which require whole body movement, and which involve the large muscles of the body to perform everyday functions, such as standing, walking, running, jumping and sitting upright at the table.

Activity 1.Trampoline

2.Bowling with empty water bottles

3.Pushing a laundry basket

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THE

ACTIVITIES CORNER Sensory Play Sensory play encourages learning through exploration, curiosity, problem solving and creativity. It helps to build nerve connections in the brain and encourages the development of language and motor skills.

Activity 1.Sensory Bin

2.Using foam to learn numbers, shapes, prewriting

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SERVICE AND HELP

CENTERS Down Syndrome Association Malta (DSA) Contact number: 21 235 158 Email address: info@dsa.org.mt / dsamalta1981@gmail.com Webpage: http://dsa.org.mt/index.php Facebook page: https://www.facebook.com/Down-Syndrome-Association-Malta-356000461162321

Perinatal Mental Health Clinic Mater Dei Hospital Contact number: 2545 7410 / 7970 1767 Webpage: Perinatal Mental Health Service (gov.mt)

Parent-Infant Mental Health Alliance (NGO) Contact number: 7970 1767 Email address: pimha.malta@gmail.com Facebook page: https://www.facebook.com/PIMHA.MALTA

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ACCREDITATION The Malta Health Students’ Association would like to thank Graziella and her family for sharing their experience and advice, allowing for this booklet to be created to commemorate and celebrate 21st March as World Down Syndrome Awareness Day 2022.

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