We are Rick and Sandra Hall. Just a year ago we were a “normal” family. I, Sandra, have three much older children from a prior marriage. Garyn, Cohen, and Adrien are all relatively normal children, though I do not avoid the typical headaches of witnessing their ongoing forays into young adulthood. Rick and I also have a daughter, Cassie, who was almost ten when Heidi was born. Heidi came to us relatively late in our lives on June 26, 2013.
Heidi was just over three months old when she was diagnosed. Spinal Muscular Atrophy Type 1 is a genetic disease, the gene of which was only identified in 1995, though the disease had been known of since the 1890s. It is an autosomal recessive genetic disease, like the better known cystic fibrosis and sickle cell anemia. At the time of Heidi’s diagnosis she had been weak since birth and could only move her arms and hands 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.
I was a practicing attorney and had to quit working to care for Heidi’s medical needs and learn to use the medical equipment we would need to master to be able to care for her. Rick is geneticist who works at a biotech company in Research Triangle Park, North Carolina, where we live. He had heard of the disease. Following Heidi’s diagnosis, as I retreated into depression, Rick was looking to see if there were any clinical trials in progress. He found one and we were fortunate to be able to get her accepted to the trial before she aged out.
Since then, Heidi has been participating in the 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 following her surgery to have a food tube placed in December. To this point, August 2014, Heidi has only suffered a couple of colds and a stomach virus that she recovered from without respiratory complications.
We were a “normal” family until October 3rd, was Heidi was preliminarily diagnosed with Type 1 Spinal Muscular Atrophy. Now we are an SMA family; the families we have met through the Families of SMA and the SMA Facebook page understand the day-to-day challenges and joys these children bring to our lives.
For any newly-diagnosed out there who may be reading this, you may find yourself surprised by how some people react to the diagnosis. Some family and friends will fall away in horror, ignorance, or misplaced pity. Some will make assumptions about the quality of your lives and that of your baby. One even encounters the rare “virtuous”or “faithful” folks who fatuously believe God is punishing you because you are not as “good” as they endeavor to appear.
The SMA community includes people of every ethnicity, race, and religion, all of whom have had to learn to transcend warped misconceptions and insulting responses to our situations. You will learn who your real friends are and you will find a whole new family with other SMA families. You will become one of the dragon moms or dragon dads that we have to become to give our children the best lives possible, make sure they receive competent medical care, and still survive ourselves in order to be able to accomplish those things.
Rick is a geneticist and has brought his scientific background to the task of understanding this disease and the possible treatments that are in various stages of research and development. Only medical professionals with specialized experience with the disease are more informed on these aspects of SMA and even some of those professionals may not be. He is happy to share information and thoughts with any SMA parent who thinks he might be of help.
I am an attorney-turned-full-time-dragon-mom and am working on a book about our experiences with Heidi. I can assist anyone who needs consultation regarding estate planning and trusts for special needs children, however I am only licensed to practice in North Carolina. This means I can only draft the actual documents for families whose wills and trusts are subject to North Carolina law.
Either Rick or I can be contacted at www.facebook.com/onegenefromperfect