Additional Needs
I don’t want the care. I need it.
by Sharon F
on 29th April, 2024
The Importance of Genetic Testing and How it Changed Our Life
I had a very difficult labor and delivery, which resulted in a loss of oxygen for my baby. She was not breathing when she was born. Thankfully the doctors saved her; however, we discovered at an early age of 18 months that she was not developing as she should have been.
She had feeding issues, which resulted in the need for formula. She choked on her formula and her own spit up. Choking that caused her to stop breathing. She choked on her food until age seven and still has trouble with swallowing. The Heimlich Maneuver became a common daily practice in our home. The doctors attributed these things to her loss of oxygen at birth.
There was so much more we discovered along our journey in life as Emma got older.
She is speech impaired, and at a young age had to have many teeth removed due to overcrowding. Overstimulation and aggression are also some things we have dealt with. A lot of these things are not much different than her friends.
Some of these things fit into the mold of “lack of oxygen”, but for me, I always felt some things did not, such as her teeth issue. Yet, we went with the diagnosis of lack of oxygen.
Emma is now 31 years old, but when she was young and we were discovering her special needs, as a young mother, I blamed myself for not asking for a cesarean. I told myself I should have known labor does not take that long. I spent many sleepless nights being so angry at the doctor who did not do a cesarean. As the years went by, I, for the most part, healed the pain and regret. I say for the most part because those things are always in our subconscious.
I decided to make the best of my life with my beautiful daughter.
The genetic testing happened by the Grace of God. I had been trying to get Emma more physical therapy, but with the diagnosis of “loss of oxygen,” insurance was not seeing the need. Those who know Emma can see the need, but not the insurance company. Her physician recommended genetic testing to see if there might be something there. I said, “Okay, but I highly doubt there is anything.”
When they called me several weeks after the testing, I had forgotten about it. Imagine my shock when I was told that my daughter has SATB2-associated syndrome (SAS), also known as Glass Syndrome. When I was told, I became very emotional, as the first thing that came to me was how I blamed myself and the doctor. A cesarean would have made no difference in my daughter's life.
I know genetic testing does not apply to everyone who has special needs, but I write about this because it can apply to many.
Now we know what type of medical care she needs
There are so many things we would not have known that we now know to watch for medically, such as cardiac testing, and bone density. I still have much to learn about SAS Syndrome, but I am grateful I know and can educate myself.
There is so much more to this story that I cannot share in this one blog. But what I can say is, this knowledge may be something that could save her life as the future unfolds.
When Emma was born, they had not come this far with genetic testing, but now that it is so advanced it has been a blessing for us and can be for many more people. I am grateful for what they do.
