Isabella Joy was diagnosed with Spinal Muscular Atrophy (SMA) Type 2 this morning August 29, 2011. A DNA test confirmed that she has a deletion of both her SNM1 genes. As some of you know Izy has been undergoing testing for some time now. By nature, I prepared myself for the worst, but nothing could prepare me for the feeling in my stomach upon hearing that she has a terminal disease diagnosis. I am beginning this blog to keep my friends and family posted on her condition. I will try to update it a few times a month and as we gain new information. Let’s start from the beginning.
When Izy was around 5 months we noticed that she was not sitting up correctly. Her legs were not “frogging “out but instead her knees seemed stuck pointing up instead of out to the side.
Isabella 2 months
After consulting with her pediatrician, who also noted low muscle tone in her legs, we began our journey with a visit to the orthopedic doctor. He did x-rays and gave us exercises to do at home to help gain flexibility in her hips and bring her knees down. On our follow up visit, a second set of x-rays determined that her bones where normal but that there was a problem elsewhere. We were referred to Children’s Hospital of Orange County (CHOC). Over the following months we saw a neurologist, metabolic specialist, geneticist and a second neurologist. Being that Izy was/is still young her doctors ran the least evasive test first, a series of blood tests, these cancelled out many other diagnoses. On June 28, 2011 Izy had an Electromyogram (EMG), which measures the electrical activity of muscles. This nerve conduction test measures how well and how fast the nerves can send electrical signals.
Izy had to be sedated in order to complete the test. She showed a remarkable tolerance, which required 2 times the normal dose of one sedative and 4 times the normal dose of the second sedative. After that, I asked the doctors to call it quits. About 75% of the test was completed and from those results I first heard the words SMA. The doctors all give you the best-case scenario and never want to confirm or deny anything that sounds too scary to be true. While this is a frustrating trait her doctors all seem to possess, it did make the process easier until finding a confirmation of her disease. Even still upon going home and immediately looking up everything I could on SMA the reality that something was seriously wrong began to set in. For example, with Type 1 most children do not live beyond the age of 3. The doctor warned me not to go home and start panicking when I read information online. So I took her advice and waited till her next set of testing. Last week Izy and I went to the genetics center to have her blood drawn and today we met with her doctors and received confirmation of SMA type 2. While life expectancy depends on the individual most type 2 cases range from early adolescence to adulthood.
Where I find hope, Isabella is getting stronger. SMA leads to several different complications over time and ultimately results in passing from complication. While it would be expected that she would already have begun to have decreased strength. She has remained strong and has even shown some slight improvements. This gives me hope. There is a vast amount of research and resources devoted to finding a cure and treatment for SMA. I can only pray that through continued therapy and participation in the SMA community we can find a way to help Isabella and other children fighting this battle.
I appreciate all the love and support I have been given through this process. I will keep everyone updated on how Izy is doing. While I am, personally, still struggling with this diagnosis, I will actively try to answer any question and respond to comments when I can. Please have patience with me, Isabella completes my life and the road ahead will not be easy for us. The best way to contact me is through email or this blog. Please pray that we can continue to find hope.
