Dear Friends,
We apologize in advance for sending this news via email but, in all honesty, it's the only way we can do it right now. As parents, we have learned the worst: Gwendolyn's illness is terminal. This is the most difficult news we have ever had to face and now share with those who care for us and our little girl. We are devastated, confused, and in disbelief. We have more questions than answers at this time, as we are still coming to terms with the enormity of it all.
What we do know is that Gwendolyn's illness is a relatively rare genetic neurodegenerative disease called SMA Type 1, which stands for Spinal Muscular Atrophy, also known as Werdnig-Hoffmann Disease. It is caused by a missing gene combination responsible for the production of a protein that is critical to the survival and health of nerve cells in the spinal cord that the brain uses to develop and control the muscles. We are apparently both carriers of one copy of this recessive, defective gene and unknowingly passed our copies on to Gwendolyn.
Given Gwendolyn's improvement during her hospital stay in December/January and thereafter, we remained hopeful that the original Infant Botulism diagnosis was correct. But the doctor's were always forthright that SMA had never been completely ruled out. Gwendolyn's clinical fact pattern was always described as “atypical” of both Infant Botulism and SMA. There are and probably always will be many, many unanswered questions around her specific case relative to the “typical” SMA case. Over the last month Gwendolyn's movement progress slowed and SMA was spoken of with more frequency and so a genetic blood test was ordered several weeks ago. We learned the results of that test on Monday. Unfortunately, we are told that the results of this test are 100% accurate. The prognosis is not good — most babies don't make it past two years and many begin to plummet around eight months old. There is no treatment except to keep Gwendolyn as comfortable as possible, as happy as possible, and cherish every second we have left with her.
National Institute of Neurological Disorders and Stroke
Just so there is never a second thought, our sorrow does not mean we do not want to share in your joys. For our friends with children, please continue to send us photos and give us updates on those special moments. Going through all of this only reminds us how precious and fragile life is and how important it is to celebrate every single moment.
With Love,
Victoria and Bill