Very recently, we learned that our daughter has a gene mutation called COL4A2. This rare gene mutation can manifest itself in a wide variety of ways and there is no telling when, if and how it will manifest. Optic nerve hypoplasia (ONH) can be one symptom, which is common among children with Cortical Visual Impairment (CVI). Another symptom may be fragile vessels which could cause stroke.
Like most parents, I immediately took to Google to learn more about it and find out if there are any treatments available. In my search, I came across an article about Dr. Tom Van Agtmael who is entirely dedicated to researching this gene mutation. He is one of two people in the world who is leading the research. The other is Dr. Douglas Gould.
Getting in Touch with Dr. Tom Van Agtmael about COL4A2
To date, it has been my experience that medical professionals and educators are extremely generous with their time and knowledge. I have never been turned away and these wonderful people have empowered my family with the right tools to learn and educate ourselves, and those around us. When I contacted Dr. Tom Van Agtmael by email, I hoped he would reply, but I suspected his level of expertise could be beyond my reach—surely he was a very busy man! That said, I was determined to learn more about the research he was doing and I knew it didn’t hurt to reach out. Well, he did get back to me. Even better, we made plans to meet in Edinburgh, Scotland.
This past weekend, we took the train and met him in the coffee shop “The Elephant House” where J.K. Rowling reportedly wrote Harry Potter books. What we learned was incredibly valuable and I am beyond grateful for the time he took to meet with us.
My Advice to Parents of Children with Medical Needs and Learning Disabilities
My advice to all parents who have children with medical needs and learning disabilities is:
- Take ownership and don’t be afraid to ask questions, no matter how intimidating. I do not have a background in medicine, but by preparing in advance and being proactive, I can level with medical providers and take more away from our discussions.
- Before you meet with medical providers, learn as much as you can about your child’s condition. Read the medical journals and have your questions ready in advance. Doing so helped my husband and I have in-depth conversations with providers. If you don’t learn in advance, the information you receive will likely be surface-level—the kind of stuff you can learn on your own.
Today’s CIMT Activities: Hand Massage!
Today in CIMT, Ruth and Fetullah continue with the fun activities. We are fascinated with how our daughter has progressed physically and cognitively right before our eyes. She absolutely loves having her hand massaged with this gadget!
Cindy has a deep interest in Cortical Visual Impairment (CVI) and is currently studying Early Childhood Education. She focuses most of her time on her energetic daughter: playing, cuddling and helping to make her world visually accessible. Cindy holds a degree in Marketing and has worked in the not-for-profit sector for many years.