William Syndrome: All Q&A answered (Malaysia)

Many asked about April. The elder she get, her slow development is more prominent to the public. William Syndrome is still a stranger to many. Here I am answering some of the curiosity.

Flashbacks aren’t easy - its like overcoming self emotions. Penning this down is fine with me but indeed it need more strength to word it out for the recent interview with Jerry Song for MACST( Make A Child Smile Today) in collaboration with MRDS (Malaysia Rare Disability Society. 

FYI - MACST is a university students-initiated pediatric society which aims to contribute to the hospital and the younger generation by organizing various charity events and awareness projects. 

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DIAGNOSIS

1. How did you first discover that your child has a rare disorder?

It was first discovered when she is at 7.5 months when a local paediatric, Dr Pauline detected a mur mur sound on her heart, and we are concerned on her slow development. Her development is of big difference with her brother, whom is only 1 year elder, eg. she had difficulty in sucking milk from the bottle due to weak muscle.

We are referred to Dr Rajini, a child developmental paediatrics from Sunway Hospital. She then looks at her appearance, checking some details of delays with us and get us to take a FISH (Flourescent in Situ Hybridization) test, a test for William Syndrome. There is when the journey begins.    

2. What were the symptoms?

Williams syndrome is a condition made up of specific symptoms that significantly impact health and development. Common symptoms of the condition include: specific facial features like a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes, colic or feeding problems.

3. What were your initial reaction and feelings?

It has been dramatic and hard to believe that it’s happening to our family. A lot of times we are haunted with our own - why us, why me, and self punishment. It got worse when families and friends and even strangers started to question you with words like “How did it happen?” “What did you consume during pregnancy?” “You are too near from your last pregnancy, maybe.” “I never hear of William Syndrome – is this Down Syndrome or a disease or ….?” And “What are you planning to do?” “Are you sending her to theraphy?” “I know of this Dr…..that you can try” or even “You should try to see this master sien seh, pastor… and the list goes on”

We already been very devastated that it happens to our daughter and still have to explain to EACH one on the same diagnosis, feelings, and blah blah blah. It’s pretty tiring.- Well, VERY Tiring is a better word.

Most of the time, we are very nervous and am aware that we need to find solutions.

4. How did you deal with your feelings?

Although most of the times feeling really bad, we tried to head up and be positive as much as we could. Getting help from professionals, support from friends, getting lots of information from MRDS Malaysia and William Support Group in Australia. During the initials, we meet with a few senior William Syndrome families and that helps to know we are not the only one and sharing of experience ease the lone feeling.

5. What did the doctor say and suggest?

Doctors confirmed as the FISH test comes out positive, it’s a spontaneous deletion of 26-28 genes on chromosome #7. WS affects 1 in 10,000 people worldwide.

Thereafter, we are suggested to have constant therapy to help her with her developmental delay. This includes occupational therapy that works on her fine motor skills, speech therapy on her speech, cardiologist visit on her mur mur sound which is due to the narrow artery. Hearing test, Visuals test, and child development consultation too. It was a crazy visit to Sunway Medical and HUKM the most.

As for hubby, he knows that she need to go to all sort of therapy that we never hear of before this and of sky high prices if we are to go for private hospitals.

TREATMENT

6. What was the treatment recommended?

There is no one treatment for all William Syndrome individuals and depending to the developmental delay that one is having, it can be different therapy for different children. Other than therapy, its more on helping the individual for live learning skills such as dressing up, daily chores, self handling etc.

7. What was the most difficult part of the treatment?

I could say therapy in hospital is super time consuming when you had no money but to rely on government hospital for the next appointment, giving not 1 but a few different therapy on a different date does not motivates. Imagine, we have to deal with traffics and parking besides handling the child.

However, regular therapy at home helps a lot after we seek guidance from the therapist in hospitals. Do more researches online and sometimes, you know what's best for your child.

8. How did you and your family cope with it?

There is no choice during the earlier years when you know she is not walking by the age of 2 and you are panic, we follows through the therapy. At a point when my ex-company close down it’s operation in Malaysia, I decided to stop working to give in schedule for her therapy. We start to get some educational toys for her to work at home so that we could have it practise at home. During the period, we setup an online store selling these products online too – firstly as I am able to get discounts on the products for our daughters usage, and also being able to supply to those who needs it being individual or companies.

I had come across a lot of connections from there and no regret as it helps on any issue that I had throughout her early years.

Besides that, we did more physical and strength exercise to work on her muscles.

9. What are your feelings and thoughts throughout your child's treatment?

I would say there is no one way that suits all. My way may apply for her, but it may not be for others but one can always take reference and try. It’s better than no guidance. It's a never ending treatment - as we don't think there is an end to it.

Mothers especially me am a bit sceptical on these therapy as we don’t see instant result. Feelings of asking our self, when she is being able to pick up drowns me every time.

CHALLENGES and HOPE

10. What are the challenges that you face since diagnosis?

Since diagnosis, challenges are:

a) Colics – She cries often and doesn’t finish her milk as fast.

b) She can’t chew properly due to weak jaw muscle that leads to speech delay and low muscle tone – that what makes her slow to walk, or sit. So it really take forever to feed her. Now as she can feed herself, it took ages for her to finish her food if she is given something hard to chew. Therefore mostly she prefers soup and anything that is soft and easy to eat

c)  There are lots of trial and error. She might know the steps today, and forgot about it tomorrow. It’s a continuous repetition and you somehow must have the patience to wait for it to happen.

d) I think due to sensory needs, she love to play with water and slime or soapy item - and no joke when we say she can finish a bottle of shower gel quite fast. And for real she'd play with her poo during her crawling days and had us cleaning up the room for hours. (This is really epic that I will remember for a lifetime). She loves to dissemble things too, and that often frustrates the brother who love to assemble Lego pieces.

e) Delayed response or no response – we had problems with selective hearing and always have the thought if she had got hearing problems but it wasn’t.

f) It's hard to get the correct syllabus, right class and institution that suits her. She had change more than 4 kindergarten and that’s depressing. Special need education is not Promising in Malaysia.
-       Government public special need sector (teachers have no skill in dealing with each diagnosis and it ends up like daycare and individuals are dealt with no difference)
-       Private Special need school  (even with higher fees) they do not recruit a qualified teacher and just trial and error.
-       Musical is not part of the main syllabus for WS

      g) Siblings Issue and differences/ preferential/ attending
h
h    h) To guide her on differentiation between hers and others (be it food, things etc)

      i) Turns blue in cold water

      j) Limit in circular of friends, often a lone ranger in group activities        

11. How did you overcome them? Eg. sleepless nights, worries, fears, etc...

Look out for talks, understanding of the syndrome with your partner, get professional advice and help. Having a really positive mindset helps. It’s not easy having doubts on her capability and yes – I shall have to change my mind set.

12. Does your child require any special care?

As per our case, toilet training is really not easy. It took years. Due to the low muscle tone, at night if they are being fed with more drinks they tend to lose out. It gets better now. (Finger crossed)

As they have this overly friendly personality, showing greater interest in contact with adult than peers, we had to always be watchful on her. So it's like 24 hour observation.

13. From where/who did you draw strength throughout the ordeal?

Thanks to some personal friends for the supports and numerous prayers and guidance that gives us strength and hopes. Information and support from William Syndrome group, sharing from MRDS, and others channel. Teachers who believe in her, that asking us to give her a chance to perform on stage and she make it happen beautifully with me having the tears.

14. What are your hopes for your child?

To raise her to become someone in a society who can help others to smile at their darkest end. Be it to lighten with her talent of music or her personality. I am not giving up on her academic but I won’t force her into something that she don’t have interest on. We are still looking into her strength and finding ways to nurture it. Mostly hoping her to be independent and well behave.

We try to enrol her into activities, camp as much as the organiser can involves her. Giving her as much life experience be it trips or travelling so that she sees more of the society and the world. Simple gestures like queuing up and take turn is an important life skill and these are some that we want to embed to her.

15. What is it about your child that gives you strength to cope every day 

(eg. your child's joy, smiles, courage...)

For how hard the life may be, she had no fear but just smiles, and yes, she teaches us that life is just so simple and basics to be happy. When we had a bad time at work, that is just what we need a carefree smile. Her carefree joy, no worries of thing. Courage to try something new that also encourage her brother to do the same. (Even they had disagreement most of the time – mainly due to her delay response that frustrates)

16. What did you learn from your experience?

She connects me with more people as I begin to be more open on her condition. It may seem a crazy roller coaster journey in raising her, lots of shouting when we get impatient. But looking at how she responded makes you think twice that we should control our own emotion. Like per I being advised, we should really accommodate to their timing, and not forcing to adjust theirs. This would somehow meet each other expectation.

17. How has the experience changed you as a person/parent?

With her, she made us a more hardworking parent to fit in the school and classes bill. LOL.

I am not such a social person, but for her, getting the awareness to public is my wish comes true so that people understand us, the child and the parent.

She test our patience too – I think it helps at work, so that we try to be less flared up. ;P

She somehow teach me to take a step backward and slow down, one step at a time. (while teaching her, you cant seem to give them a few job at once too) eg. holding a spoon and fork is also a challenge.

  

18. What advice can you give to the public?

Every families with special need children had faced so much of challenges. At the end of the day, we will need some space by ourselves. Not that we doesn’t want to share with all, but the amount of questions and any negatives thoughts could drown us further.

We really need positive vibes, prayers and will share when it’s the time. When you realised that teachers/ educators/ doctors can only do that little much, you will be the best to parent your child as they are comfort with us.

We had formed a William Syndrome group in Malaysia and at current have 20 families throughout Malaysia, aim to share information and support each other. Imagine, commons issue like my kids like to dissemble things, sings and talk non stop, and list goes on – you realized its common among all and you will feel better.

We at current done 3 gatherings so far, but due to all are in different state and regions of the country, it’s a bit challenging to group all. If you had done your FISH test, you may call me at 012-6869996 and will add you in to the group. 

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It was indeed a great interview session and the scene that I treasured most is when Jaden awares better now and talks about how he is at times not in line with her sister and now he will protects her if someone bully her. 

Many Thanks for this initiatives, Jerry. Thanks to Anna (MRDS) for this opportunity too. Appreciate the effort. 

Warmest Regards

Jessie