Asia and support CHD2 to find cure

Gabrielle Rovekamp-De Ruijter / CHD2 Awareness Day 2025

We like to raise awareness for the rare disease CHD2 that our daughter Asia has. This chromosome disorder has a major impact on health, family and development of the people impacted. We like to start a fund raiser to find a cure and raise awareness. Thanks in advance for your reading and sharing.

  • $3,324

    Raised

  • $5,000

    Goal

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  • 36

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Recent Transactions

  • Ike Nizam Foundation

    $2,250.00 / 11 days ago

  • Alex Pond

    $200.00 / 17 days ago

  • Linda Fernandez

    $102.90 / 25 days ago

  • Peter Rovekamp

    $771.75 / 25 days ago

    Great to read the plan, look forward to the impact, and helping this research take one more step in helping all CHD2 children and their families. Thanks

About Asia and support CHD2 to find cure

Asia just turned 13 years old, a big milestone, however the years she is on the calender is not the same as her mental age. She will most likely forever be "our big toddler" and if we are lucky, and she has a clear day or happy moment, she will bless us with interesting information on how she sees the world and her surroundings. If we are unlucky, we are subject to her strict rules as this gives her some sense of control over this very unpredictable disorder she is dealing with. Asia does have a good sense of humor and if days are not going as planned, we always try to make a joke out of it. 

But life with CHD2 is of course no joke, it is heartbreaking and along the way we our losing her precious childhood to this disease, we are sacrificing so much of our own dreams and living in fear for the future. Thinking about the future is hard to do, we can only hope for a cure or miracle and do our stinking best to balance our family lives, own happiness and heath and that of her brother. For outsiders (even family members) it is hard to understand what goes into raising a child with CHD2, but it is a very unpredictable, hard and unknown disorder.  

Asia would like to explore more, but her fears of the unknown due to autism make this very challenging. Her epilepsy is always active in her brain, preventing her to develop normally. Unfortunately CHD2 is also the cause of ASD, epilepsy, intellectual disability, development delays and neuropsychiatric conditions for her. She spends most of her days at home, doing the same routine and eating the same food, with her trusted people around her. But she has dreams of more... she wants more, but does not have the energy or courage to do it yet. We try to help her.

Three days a week she spends a couple hours at a local zoo to socialize and learn new skills. After this she is exhausted and needs to recover. She has a sleep and eating disorder and has overall low energy and muscle tone. If we do activities away from home, she is most comfortable in a wheelchair and benifetst from her assistance dog Leffert. At home she loves doing crafts, draw her specialties figures, play Roblox games and she has a fascination for dinosaurs ever since she was 2 years old. Her dreams for the future are to have a camper to travel around with her toy collections and share this for others to see. 

Asia experienced quite some challenges growing up, but she attended day care and school and was able to write and read, enjoy sport activities and have friends. So we as parents were never expecting her to get regressions along the way and see a stall at her development. Due to the ongoing epilepsy in het brain she is not able to learn, read or write like she used too. She left the school system two years ago, because this triggered her epilepsy due to stress. 

We like almost all parent, had dreams about her future, like going to school, making friends, do sports, travel and learn about life to ultimately grow independently and have her own family. Instead we almost lost her in 2020 due to her first big epilepsy attack. In the hospital they advised us to do genetic testing and this is how we found out about her rare disease CHD2. Despite the group of kids with the same disorder is very small it became clear that day, our lives would change forever.  This CHD2 gene that Asia is missing, is located on Chromosome 15 and CHD2 is a protein that provides instructions to the brain. The epilepsy needs to be medicated, but its hard to find the right balance between seizure control and all the side affects the medicine give. We do not know who our kid is anymore without medicine, she has changed so much in behavior ever since that scary day in 2020. 

The staff at the hospital do their utmost best to help and assist, but basically all usefull information on the disorder comes from the CHD2 parent community and the researchers that are involved in the discovery of the gene disorder and counterparts exploring more. We are very thankful for this information, but it is also worryful. As there are so little adults and almost none of them life a healthy independent life. There needs to be more research done into medicine, cure, information, therapies and the gene itself. We are hoping that contributing to the awareness and making a donation to the Coalition to Cure CHD2 will help this cause now and in the future. 

Unfortunately there is no cure for CHD2 yet, we like all other parents, are treating the illnesses or disorders with medicine, but this comes with huge side affects. We are hoping that one day there will be a cure or therapy that directly deals with the disorder or the CHD2 gene. A number of researchers and pharmaceutical companies are looking into CHD2 and with more research hopefully one day the lives of those living with CHD2 can be improved.

Thanks for your reading and feel free to share this information. We would realy appreciate if you like to contribute to our fund raising goal for our mission to make life with CHD2 easier. We hope this helped in understanding CHD2 a litle more and whish you a very happy (and healthy!) rest of the day.