Meet Kasper! He loves to be the center of attention and is a HUGE lover of biscuits, using sign language about 50 times a day to ask for it. He has achieved so many accomplishments recently, like using babbling to communicate and improving his sleep after sleep training! To learn more about Kasper's seizure journey, his love for books, and more, read the interview conducted with Kasper's family down below.
1. To start off, can you tell me a little bit about Kasper?
Kasper (aka Kasper Bear!) is now 2 and a half. He was diagnosed with infantile spasms in March 2020 at 9 months old and was quickly put on anti-seizure medication. In hindsight, there were signs that Kasper was different very early on. He had colic, digestive issues, reflux (stomach acid irritating the stomach lining), and poor sleep from being a newborn. When Kasper was around 6 months old we became concerned when he began missing milestones. At 9 months old he was also diagnosed with hypotonia and GDD. After many tests such as an MRI, 3 rounds of metabolic tests, and two rounds of genetic testing, we finally got his diagnosis this past August of DeSanto-Shinawi syndrome, which is a newly discovered genetic disorder characterized by developmental delay, hypotonia, behavioral problems, intellectual disability, feeding difficulty, and seizures. It was a relief to have a name and a community to connect with. Reading the symptoms was like reading all about Kasper; suddenly everything fit and made sense. There were even things like the poor sleep, digestive issues and unusual facial features that we hadn’t realized could be related to a syndrome.
2. What would surprise people the most about Kasper?
He’s now a great sleeper! After sleep training and weaning off anti-seizure medication, he has now settled into a much better sleeper. It’s a far cry from when he woke every 45 minutes all night every night for months.
3. What does Kasper love to do? What is his personality like?
Kasper loves swings! He would spend all day in a swing if he could. He also loves books and he’ll bring you his favorite books to read to him. He loves food, especially cake and biscuits. Now he can sign for biscuits, he signs it about 50 times a day! He’s very cheeky and all the therapists call him that. He has also recently become a little show-off and likes to show off his latest tricks. He loves to be the centre of attention and can become very whiny when he’s not!
4. What are some of Kasper's best strengths?
He’s very determined. If he wants something, he’s going to make sure he gets it! He’s also extremely stubborn and won’t do anything he doesn’t want to do. He’s creative too. He likes to experiment with toys and try different things out.
5. What is a recent accomplishment/milestone of Kasper?
He’s starting to direct his babbling and use Makaton signs (a form of sign language) to communicate.
6. What has Kasper taught you?
That having a disabled child is not as terrifying and terrible as we once thought. I’m glad we don’t feel like that anymore. There have been some really tough times but we now see our lives as full of love and adventure.
7. What is your mission as an advocate for Kasper?
To raise awareness of infantile spasms and DeSanto-Shinawi syndrome and also support parents who are at the beginning of their journey.
8. What resources have been helpful in your journey as Kasper's parent?
Facebook support groups such as: The Hypotonia Parent Support Group, UK Infantile Spasms Trust Support Group (West Syndrome), and Parents of Children with Rare Conditions
Books: Raising a Rare Girl by Heather Lanier and Special by Melanie Dimmitt
Podcasts: The Mama Bear podcast by Mary Susan McConnell, Once Upon a Gene by Effie Parks, The Rare Life by Madeline Cheney, and One in a Million Baby by Tessa Prebble
Websites: https://ukinfantilespasmstrust.org/ and https://de.dessh.org/
9. What is the most rewarding aspect of raising Kasper?
The fact that every achievement or milestone he hits is not taken for granted. We celebrate every win because we know how hard he has worked to get there.
10. What message/advice would you like to give other families who have a child/children with special needs?
It can feel really lonely as a parent of a child with special needs but you are not alone. The internet has connected us with families all over the world and some of our closest friends now are some of the wonderful people who supported us throughout the really dark days of Kasper’s infantile spasms diagnosis. Use the internet to find people who get it even if their children don’t have exactly the same diagnosis.