Dubai: As the world marks International Angelman Day on Monday (February 15), UAE-based parents of children with Angelman Syndrome (AS) have called for greater understanding and inclusion.
The genetic disorder can cause a wide variety of conditions, including little or no speech, difficulty walking or balancing, seizures, and other symptoms. People with AS show a happy and excited demeanour, with frequent smiling, laughter and hand-flapping movement.
Often misunderstood and misdiagnosed as autism or cerebral palsy, AS is rare and has no known cure, affecting about one in 15,000 people. Angelman Syndrome was first identified by English physician Dr Harry Angelman.
In the UAE, parents of children with AS have been raising awareness about the condition in recent years. They said it has been an especially difficult year due to their children finding it hard to understand the restrictions or adapt to distance learning because of the COVID-19 pandemic.
Dubai-based John and Souzie, parents of Kimia, 10, have been campaigning for AS families since 2019. In a statement, the parents told Gulf News their strategy is based on three pillars — education, communication, and inclusion. “By upskilling educators and recognising multimodal and different methods of communication, employing new technologies and best practices — all of which will lead to education and inclusion. Inclusion where everyone takes a place in society, has value and that is shown and demonstrated to mitigate lifelong care provision,” they said.
“We would like to thank UAE Genetic Disease Association, Genpharm, Al Futtaim and Dubai Festival City, and Rare Revolution Magazine for their efforts in helping us awareness of Angelman Syndrome.”
The way forward also needs a change in mindset, something that is harder to work on than tangible steps, the parents added. “We need to change the mindsets and believe that everyone can learn to read and write print when their needs are addressed. We have witnessed great progress in this regard here in the UAE over just a few short years. And just as the UAE has sent ‘Hope’ [spacecraft] to the Red Planet [Mars], we wish for continued collaboration with UAE Genetic Disease Association and other partners to bring hope and benefit to Angelman families and indeed the rare disease community.”
A rough year
Rachel and Stephen, parents of Leah, 21, said the disruption from the pandemic has been particularly hard for families of children with AS. “For those of us with children of determination, the whole experience is heightened as the children are often unable to understand why they can’t go out, why they can’t go to school, why is their routine changed. They have become frustrated ... We tried as home givers to fill these needs and without the support of the special needs school community we would have seen our loved ones suffer even more,” they added.
Fida, who lives in Sharjah with her daughter Rowda, 14, also said schools have a crucial role to play. Meanwhile, Rowda has started to understand many talks by her mom, to which she responds correctly in her non-verbal way. “Rowda has been going to school since she was four years old, and the school team is expressing their contentment about how Rowda is adhering to all instructions and is showing independence in many ways,” Fida said.
Despite many remaining challenges, Fida is full of hope. “I hope our AS children receive education from specialists in the field of Angelman Syndrome. I hope that more education will be provided in how to deal with our children and deliver more information and guidance. I also hope that they will get free access to education and free health treatment … I hope I also learn how to communicate with my daughter, through Alternative Augmentative Communication [AAC] programmes that are available for our non-verbal children.”
Technology as an enabler
Technology like AAC has been has been making strides in bridging the communication gap, at home and school, said Marwa, mother of Hanna, 8. “I feel obligated to give my child that tool to express herself socially. With technology giving us that option, having a lot of AAC apps in the market, you have a very wide range of alternatives. Therapists and specialists are also quite common to find now, if we compare to years before,” Marwa said.
“This also calls for schools to introduce the use of AAC in classrooms, get their teachers and specialists well trained, so our kids get motivated to use that new voice of theirs. Their peers will perceive it like any other assistive tool, just like another pair or glasses or a hearing aid. Inclusion will not happen fully until we facilitate those tools that make it work for everybody,” she added.
In Abu Dhabi, Hiba, who has a three-year-old son, Nadim, said she would like to see centres specialised for AS to “focus on our needs like communication and sensory integration”. She added that despite the hardships, children with AS have an inspirational impact on others. “Our angels always give us the motivation to keep us going. No matter how challenging life is, in some miraculous way we are guided to continue this journey for them and with them. Maybe it’s persistence, stubborn or their smile. We are over coming some obstacles while at the same time new ones are being introduced,” Hiba said.
Importance of education
Dubai-based Em Ray, mother of Sam, who is five years old, has been aiming to raise awareness of AS in the UAE (primarily in Dubai as that is where they live) since 2017, when Sam was diagnosed. She said due to the rarity of AS, it is less understood than other conditions. “Therefore it is really important to educate people about this specific syndrome. First and foremost, it is so that families in the UAE can access support very early on, if their child has had a recent diagnosis of AS. This is crucial as the shock of diagnosis is huge. Secondly, it means that adults and children can clearly see that it is a case of ‘different, not less’ and that people of like Sam have a valued place in society.” Recently, Sam has been busy meeting other people and even pets of determination, thanks to his photo project, which can be seen on his Instagram account www.instagram.com/smile.with.sam.as.
Value of interaction
Also stressing the need for greater awareness is Alia, mother of two-year-old Zain. “People are naturally scared of what’s different. Awareness transforms that fear to kindness and empathy. That in turn allows people to meaningfully interact with people of determination instead of shying away. You probably don’t know how valuable that interaction is, it makes it easier for children of determination and their families to belong and to be included and accepted despite the various challenges we face daily,” she said.
Rhian, mother of 13-month-old Samson, shared this heartwarming post on Angelman Day: “Our wonderful angel Samson is 13 months old, yet to sit up or roll, a long way off crawling and yet to recognize us facially when he sees or hears us. It’s such a Joy to mother our Samson, he is so loving, so happy and loves social interaction. He loves to stand (with mummy or daddy’s support) and weight bear through his feet and he loves to play in water!
“We received the diagnosis of Angelman syndrome five months ago and it has been a very overwhelming and worrisome few months as it’s a diagnosis not well understood or known about which in itself brings enormous trials. It’s been challenging to accept and digest, myself and my husband have grieved over the news the last few months.
“I’m moving forward with acceptance on Samson’s diagnosis but I will not be accepting the prognosis and I will be working hard every day with therapy to move forward towards a future where Samson WILL stand unsupported, walk, run, play sport, lift weights and be able to communicate his desires to us. This will sound ridiculous to most, and even to myself as I write this, but Faith is about believing what you cannot see and dreams are about believing in the impossible.
“I’ve realized that God gave me Samson for a reason, and that everything in my life leading up to his diagnosis was to prepare me for life after Samson’s diagnosis. I initially questioned “Why God, Why?”
"But now I know, God chose us to be his parents because WE are the best parents for him. He is a gift and a blessing and is here to light up peoples lives all over the world. I just want to say something to all the Mums of special needs children. You are capable, you are strong and there is no better Mum to your child than you.”