Thank you for visiting onegenefromperfect.com. This site is dedicated to updates on the condition of our daughter, Heidi Grace Hall. We also hope to raise awareness of the disease she was diagnosed with last fall, Spinal Muscular Atrophy Type 1. It is a degenerative and fatal genetic neuromuscular disease that is the leading killer of infants under two years old.
First, we would like to address those who would decry the name of our website on the grounds that Heidi is already perfect, just as God intended her. We are all genetically as we are. As the genetic field has made remarkable advances in diagnoses and treatments over the past three decades, at present we are still stuck with the genes we are dealt. Obviously, Heidi is not just one gene from perfect; we are all many genes from perfect. I have not met any parents of children with SMA who are happy they were born with SMA. While I never wish I had a baby other than Heidi, I do wish that she had been born with the SMN1 gene. One Gene From Perfect simply refers to the way we as parents view our baby.
Heidi was diagnosed last October, 2013. When Heidi was diagnosed she was very weak and could only move her arms slightly. We were told she would lose even this small ability to move. We were also told she would lose the ability to swallow. It is expected that she will eventually lose the ability to swallow even her own saliva and die of pulmonary complications from either illness or aspiration that results in pneumonia. We were told in October that Heidi probably had about a year to live.
Since then, Heidi has been participating in a clinical trial. The clinical trial drug is SMNrx, produced by the pharmaceutical company Isis. It works. It will not be a cure for our daughter, but it may be a near-cure for the less severe types two and three of this disease. Heidi’s movement in her arms, legs, and hands has increased slowly but surely. Her trunk and neck are stronger and she can sit with support.
Heidi is also benefiting from relatively new pulmonary therapies that our pediatrician and diagnosing geneticist were not aware of. She has had no pulmonary crises other than the ones she suffered when she had surgery to have a food tube placed in December. To this point, September of 2014, Heidi has only suffered a couple of colds and viruses that she recovered from without respiratory complications.
Heidi is happy most of the time and brings much joy to our lives. She enjoys playing, being in the water, and is unusually observant for a one-year-old. We have met people through Families of SMA and the SMA Facebook page with whom to share information and our journeys with our children. These children teach us to love with the foreknowledge of almost certain loss to come, a kind of love that infuses our lives with an awareness of the importance of every moment.
We are so thankful to all the other parents who share their stories on websites and Facebook. I am also thankful to Emily Rapp, author of The Still Point of the Turning World, her account of her journey with her son through his short life with Tay-Sachs. She reminded me that writing can save one’s life. The title of the book she has inspired me to write, Juncture at the Still Point, alludes to her book. I am about midway through that project. Because this book contains a detailed account of our first year following her diagnosis and we are only now beginning our websites, the posts outlining that first year will be brief, retrospective posts.
Thanks again to all who post to the SMA Facebook page and/or have created their own websites or blogs; every one of them tells us we are not alone in the daily battles and joys of having a baby like Heidi!