Waylon’s Story
Our son Waylon was born on December 31, 2020. Just 24 hours after being home from the hospital we received a phone call from the geneticist at the Community Health Clinic, Dr. Ammous, whose clinic was an hour away. She informed us that our son was tested for over 50 things on his newborn screening and one of them came back positive – SMA.
We were unaware of what newborn screening was until his diagnosis. His Dad and I were both in shock because I had genetic testing when I was pregnant, and we were beyond confused as to why we weren’t aware of this prior. Dr. Ammous let us know that for us to be aware of this condition, prior to birth, we would have had to have carrier screening done. We never knew that this test existed.
When the results came back low risk from my prenatal testing, we thought everything was fine. Dr. Ammous let us know that we both had to be carriers of SMA in order to pass it on to our child. We had a 1 in 4 chance of either having a child with nothing or having a child that is affected. Being first time parents and only being home 24 hours with our precious baby boy before receiving such devastating news, was a feeling I’ll never have words to describe. Dr. Ammous brought us hope by informing us on three FDA-approved treatment options.
SMA stands for Spinal Muscular Atrophy and it is a genetic disease that causes the muscles to become weak and waste away. People with SMA lose a type of nerve cell in the spinal cord which controls the muscles.
We took Waylon to the clinic the same day we got the call, to confirm what type he had and how many copies he had of his back up gene. There are 4 types of SMA and he was so symptomatic when we took him in, that Dr. Ammous knew on the spot, even before getting bloodwork back, that he was most likely type 1, which is the most severe form of SMA, with only 2 copies of the backup gene. Type 1 children typically show symptoms by 6 months of age, where Waylon showed symptoms at day 5 of life with belly breathing; bell-shaped chest, and no head control. His neurologist used the word “floppy” often.
While Waylon was laying down on the table she demonstrated by picking up both arms and letting go. His arms went straight back and hit the table. He had absolutely no control over stopping them and when you held him, his arms would lay behind him due to super low muscle tone. One day before receiving treatment, at 26 days of life, Waylon showed the first movement we had ever seen in his arms.
After he received gene therapy at 27 days old, it helped ease my mind that the treatment would halt the progression of SMA. A month later his crying got louder & we started seeing movement in his arms. Waylon also had slow weight gain and severe belly breathing which led him to being on bipap at night. This has helped him with breathing and widening his chest.
Waylon has therapy 3 days a week and continues to make progress weekly. He amazes us with his dedication to continue to work hard and do things that we never thought we would see. He sits unassisted, rolls both ways, and plays with toys, but his biggest struggle is lifting his head. It stops him from being able to crawl or sit himself into a seating position.
For our family, it is not IF he will crawl, walk, or meet other milestones…It’s when. He just had his yearly evaluation, and they said his fine motor skills were on track for a child his age. The fact that he can sit unsupported is unheard of in the natural history of SMA & before treatment.
At the time of Waylon’s diagnosis, all we could think of was “why us”? Then we came to the realization that there are people who are denied treatment or have to wait months to receive it. The sooner the treatment is received, the better the outcome. We were fortunate enough to be able to get therapy, so we would say we are doing pretty well.
There are times when we wish he was progressing more, but we remind ourselves that we are blessed to have him with us today and he is thriving. Looking back at the newly diagnosed days, we never saw ourselves where we are now. By no means are we saying this is easy, but when you have a little one that depends on you daily, it gives you every reason to keep on giving them the best life possible.
We will continue to advocate for Waylon and be active in the SMA community through fundraising for Cure SMA and other organizations.
No matter how weak you may feel after receiving your child’s diagnosis, just know in the end you’ll come out stronger than you ever knew you were. You will fight for your kid until your very last breath.
— Jessica (Waylon’s Mom)