Ankita* a corporate professional describes her experience in raising and supporting her son Vijay*, 23 years old who was diagnosed with Angelman Syndrome. She takes us through all the effort and emotions she and her family went through across the diagnosis, any treatment needed, management of the condition, all to ensure Vijay led a healthy and happy life.
Please tell us about your child’s condition and how and when this was diagnosed. At what age did it all start? What were the early symptoms?
Vijay was diagnosed with Angelman syndrome when he was around 1yr 2months. He started missing his milestones of sitting, crawling, walking which made us a bit suspicious. Around the time he was 1 yr old he suffered from seizures which confirmed that something is abnormal. We had asked his pediatrician during regular check ups why his milestones were delayed but the doctor mentioned that sometimes some babies showed delayed symptoms but they catch up later. However, when he got an epileptic attack, he was admitted to KK Hospital in Singapore where he had been born. After that, they initiated a full check up process including blood test, MRI scan, EEG, neurological, checkup. Even then the root cause wasn’t diagnosed. Hence, we secured an appointment with the best neurologist in Breach Candy Hospital, Mumbai.
What were the tests that led to a diagnosis? Was any prenatal screening done? If not why?
The neurologist observed him carefully during the check up and advised us to get a FISH test done. This chromosome test confirmed that Vijay had a genetic disorder- Angelman Syndrome. There was no prenatal screening done as my pregnancy and delivery was quite normal. There was no abnormality found during regular check ups.
What was your reaction to the diagnosis? Your family’s reaction? What is the medical prognosis?
This was our first child in my family from both mine as well as my husband’s side. It was certainly devastating as parents for my husband and me and also to our families. It took us few months to years to come to terms with Vijay’s condition. We were not completely sure what to expect and how to take care of him and also if there was any treatment available to improve his condition.
We read information available on google that this is a genetic condition and there is overall developmental delay and the child may not be able to talk at all. He will also have cognitive difficulties.
What was the initial treatment? And how has the treatment changed over time? How is your child responding to the treatment?
There is no medical treatment for this condition except controlling his seizures and calming his brain activities. In the initial years until Vijay was 10-12yrs, he suffered from seizures. The first few years 1- 5yrs his seizure attacks were quite frequent and severe. After seizure attacks, he generally regressed in his cognitive abilities– he couldn’t sit steady, couldn’t walk steady.
When he had seizure attacks he was admitted to the hospital until the seizures were in control with higher dose of epileptic medicine – Sodium valproate and a sleeping tablet – Benzodiazepine. After that the dose would be stabilized when the seizures lessened. With increase in his body weight, his dose of Sodium valproate and Benzadiazepine was adjusted accordingly.
After 12-15yrs, seizures lessened to once in 1-2years and overall the dose of Sodium valproate and Benzadiazepine stabilized. The doctor decreased his dose but he still takes both medicines in a small dose just as a precautionary measure.
Were there any complications from the primarycondition and at what stage? And how did you handle these?
Vijay suffered major cognitive disabilities. He couldn’t walk steady, he couldn’t hold things, he couldn’t eat on his own, he has understanding difficulties and his speech is completely impaired.
We made him walk to strengthen his leg muscles, made him drink water through a straw, eat and chew all types and textured foods although he used to gag to strengthen his mouth muscles, we made him hold different objects to strengthen his hand muscles, we made him crawl, do wheel barrow exercise, full body oil massage to strengthen his muscles and cognitive abilities.
What kind of specialists (including Physio/ Occupational therapist/ Psychiatrist etc.) do you consult and how often? Were there any interventions needed other than medication? Why and when was this done?
In the early childhood years (5-10years), we consulted Neurologist, Physiotherapist, Speech Therapist, Occupational therapist. These interventions were helpful to some extent. It helped us to know how we can help Vijay become more independent and communicate his needs. It helped us to be aware how much these interventions could be helpful.
Do you have a family history of this condition? Was genetic testing done?
No family history in both my husband and my family
What changes have you made to your and your child’s lifestyle because of this condition?
Nothing major. We just follow a set routine on daily basis. This also helps Vijay lead a normal life. He goes to a day care on a weekday, and we take him on an outing on weekends
How do you navigate work? What kind of accommodations, if any does your employer need to provide?
I have a full time nanny at home from the time he was born till now who takes care of him. He is fully dependent for his daily needs- bathing, eating, toileting etc. He also can’t communicate hence we need someone to watch over him constantly.
My job requires me to travel and also take night calls, etc. Due to this support and arrangement at home, I am able to go through this like a normal employee.
How did you mentally/emotionally cope with it all? Pls mention any specific times and issues that were difficult.
In the initial years it was difficult as we didn’t know what to expect and also seizures were more frequent (within 2-3 months). However, with time we learnt how to deal with his condition- what are the trigger points for his seizures, how to get him back to normal.
As parents, we need to maintain our calm, have patience and maintain a positive atmosphere at home and outside. We maintained normal routine of going out on weekends, meeting friends and family, eating in restaurants which helped us to cope with the daily stress and also helped to get energized to deal with Vijay and his condition.
Did you see a counselor for support?
Vijay went to a special kids school in Singapore. There were counselors, therapists and and parent support groups. We joined the parent support group for kids with Angelman Syndrome where we shared and exchanged views with each other. This is an independent support group in Singapore not connected to the school.
How has your family supported you?
Our family provided us immense support. In the initial years, my husband’s parents as well as my parents stayed with us and helped to take care of Vijay and take him to play grounds or walks. This really helped us to focus on our work and travel schedules
Has your child’s condition led to social challenges among friends, extended family, neighbours?
We have always taken Vijay to gatherings with our friends and family. We also go out as family on weekends and to movies. Sometimes it is difficult as he would not sit steady or shout at the top of his voice and it would be embarrassing. We still kept following this normal routine and slowly he adapted to it and started enjoying it. This has helped us and him maintain a normal lifestyle,
This has also helped Vijay to mix well and bond with his younger brother, cousins, friends’ kids. Our younger son is strongly bonded to his brother and he doesn’t like to go out on any family outings or movies without his brother.
Does your child go to a school? How did you go about finding an appropriate school? What were the challenges faced?
Vijay went to a special kid’s school – Rainbow Centre in Singapore. This school has children with multiple disabilities. There were only 1-2 schools in Singapore for such children. There are teachers trained for special needs, physiotherapists, speech therapists and so on to help guide the parents to help cope with the special needs of child. Since Vijay is born in Singapore it was easy to admit him in this school.
What is your and your child’s present condition? What were some of the challenges you continue to face?
Vijay doesn’t face seizure attacks anymore and his condition is much more stable now.
We follow a daily routine for his day-to-day activities which has made it easy for us and him to cope on a daily basis. He is fully dependent for his daily routine. We have to constantly keep a watch on him and ensure his safety and daily meals, toileting and hygiene is fully taken care of.
Have you shared your child’s condition through any social media platform? If so what was the reason to do so?
We haven’t shared about his condition on a social media platform. We don’t mind sharing it with parents with special needs kids however we don’t want to share it on a social media platform
What are you worriedabout for the future?
Our worries are normal like any other parents - about who will take care of our special child once we grow old. We wish that he is protected and has a happy healthy life.
In Singapore, there are some special kids homes which could take care of him in future. There are also Government institutions where we can invest certain funds to take care of the needs of such kids in their future lives
What are some of your learnings that you would like to share for other parents who face similar challenges? What changes would you like to see?
Be calm, patient and extremely positive. Follow your normal routine and a normal lifestyle to bring normalcy in daily life. Take care of your personal needs, take breaks and listen to your own body needs before taking care of the child. Ask for help if you need to.
It’s extremely important to be physically and mentally fit to be able to impart the love and care to the special kid as that’s the most important thing your special kid needs.
*Names changed on request
