Genetic Testing From a Mother's Perspective
Amanda and her daughter reading together in her daughter’s room
I have always been a person who loves to go off the beaten path and I have always been drawn to the people who live unapologetically there, in their own wild space. It is no wonder to me that I would be blessed with two unique children that our world often defines as "special needs" kids.
My husband, Aaron Byzak, and I first discovered our first child had a vision impairment as a newborn baby and then discovered it was because he also had albinism (so obvious in hindsight from looking at his brilliantly white hair that it makes us chuckle). He then went on his unique quirky way and, eventually, we found a new label: autism. ADHD followed. I won't go into all the other labels that have been piled on over the years… however, they have only been helpful to us, not limiting, as many would think.
Some people get so upset with the labels...for me, they always brought a sense of comfort in knowing I now had a "ticket" for resources and an "x" on the map to find my tribe. It really has been nothing more than that for us. Separating the child from the label has always been easy. As each new label came along, I always had this mantra that would play in my head, “He is the same kid now as he was a moment ago, before this new word was used to define some aspect of him.”
Despite all that has been learned from those words, so much has remained a mystery. Why does he have albinism? What type does he have? Why does he have autism? What caused it and what is going on inside his body that causes these “symptoms” to occur and to sometimes get worse and then better?
The human body is this complicated machine, with so much going on that we can only speculate as to why certain things are happening, from changes in behavior and mood to physical ailments and other maladies. With so many variables at play, we could only make educated guesses.
Then the field of genetics came along. Every day we are learning something new about the genome! We can now link genetic changes to certain diseases and syndromes. We can now call unknown diseases by their names (their “labels”) and people, now armed with that information, can find their resources and their tribes. Those labels provide answers.
Seemingly every day, new studies come out that link certain genetic changes to autism. New therapies and drugs are being developed. Would those therapies and drugs help my son? How would I ever find out? Genetic testing was not covered by our insurance and the cost was several thousands of dollars to have it done.
When Illumina, Inc., a local genome mapping company whom we found through the Vision of Children Foundation, offered to provide our family the opportunity to map our son’s entire genome (and ours, the parents) for FREE, I jumped at the chance. I wanted to know as much as I could about what was going on inside his body. Maybe we would get a new label that could help us make better decisions about his healthcare.
And we did! We found out he had OCA4, not OCA2 as originally suspected. What does this mean? Well, there have been some new advancements in the field of gene therapy for inherited blindness. Recently, there has been some experimentation in trying to develop pigment in the part of the eye for people with albinism so that their visual acuity can improve. For anyone who does not know, the main challenge for people with albinism is the vision impairment. It is the biggest hurdle to independence because most people with albinism are legally blind. Some read braille and need a cane or a service dog and some can drive--it all comes down to how much pigment is in their retina.
And now, because of the genome mapping, I know what form of albinism my son and daughter both have. We have swapped out one inaccurate label for an accurate one. Now I can follow research and know when it's talking about OCA4 participants in these studies, they are talking about my tribe, my kids. This knowledge has brought me a potential new resource and this is just the beginning…
Click the button below to watch the video on our genetic testing story.
If you are interested in being considered for the whole genome sequencing test offered by Illumina’s iHope program, please contact Nancy Montejano at nancy@visionofchildren.org and request an application.