TAKEN BY SURPRISE BY A RARE DISEASE, IT’S TIME TO GET BUSY!!
In the spring of 2012, as a 37 year old “what seemed to be” healthy female, I was enjoying a nice weekend visit in Hot Springs, Arkansas with my family. While jumping on the trampoline with the kiddos, I noticed I simply was not able to do this any longer. My legs gave away more and more with each jump I attempted. At this point I thought “mercy me” Stephanie Kay, you better get in shape!!
As time went on, over the course of a couple of years, more things continued to happen which made me think I was beginning to become even more out of shape. I was no longer able to get up off of the floor without using my arms and could no longer squat down at a baseball game, etc. just to chat with someone, and was even unable to wear shoes with much of a heel. This became somewhat embarrassing to me that I wasn’t able to do what I thought I should be able to do. Again, I diagnosed myself as simply being overweight and needing to join the local gym.
As time dragged on I began to notice around the fall of 2014 that I struggled rising from a sitting position without the assistance of my arms. Once, again I continued to get extremely aggravated that I had allowed myself to be this out of shape. At this point, I joined the local gym in an attempt to lose weight and get physically fit. After about a month or two of going to the gym and enduring the embarrassment of not even being able to lift the bar alone with no added weight, and walking on the treadmill only to step off and fall TWICE, I decided that was enough for me and wasn’t going back for such humiliation.
It was at this point, I decided with much nagging from friends and family, to schedule a doctor’s appointment with the local family clinic for a checkup. I saw the nurse practitioner, who was fabulous, super sweet and caring. She ordered a multitude of lab work that revealed an elevated ANA level which could’ve meant possible Lupus. It was then that the referrals began.
I was seen by a rheumatologist, neurologist and a neurosurgeon, and had a series of tests including MRIs of the brain, spine, an EMG, carotid ultrasound and no telling how many lab tests all within a matter of months which lead me to a nerve and muscle specialist in Houston, Texas where I would soon find out about my disease.
The first appointment I had with the “expert” in Houston he decided to perform another EMG and afterwards, immediately ordered genetic testing. I was told after signing the consent for testing it would take 4-6 months for results of such test. I was tested on June 3, 2015 and received a call in October that my test results were in and the doctor needed one last lab result to confirm. All of this time and one more test? I nearly was at the end of my rope with anxiety but still within the depths of my soul I knew there was nothing. What seemed like a lifetime of waiting, I now realize was such a short time compared to others that have waited many many years for their diagnoses.
As I sat in the room with my husband awaiting the results, I kept repeating and praying over and over in my head “this is nothing, Lord, I know this is nothing”….The door opened and the wind was taken out of my sails when the words “Mrs. Wright, you have a very rare disease called Late Onset Sandhoff disease” came out of the doctor’s mouth. He was very honest in saying, this was his first case and therefore all he was able to do was research. He handed me papers he had printed from online and asked for permission to take a video me to present to a team of experts in February. He said he would keep me posted of any new information he may find on such disease in the meantime.
[Late Onset Sandhoff disease is a lysosomal storage disorder that affects the brain and central nervous system. It is progressively neurodegenerative. Basically I have very little of the enzymes, Hex A and Hex B, that is necessary in breaking down the fatty substances called gangliosides. Because I have very little activity, the gangliosides are slowly building up causing damage to the nerve cells in my brain. The disease is not contagious. I just happened to have inherited the Late Onset Sandhoff mutation from each of my parents. There is a chance the my kids could have inherited the mutation from me but that does not mean they will have the disease.]
I left there that day in absolute shock and really as the days went on I’m almost sure I entered into a state of depression. My husband is such a positive inspiration to me and continued to tell me that it would do me nothing but harm me to sit around and dwell on this horrible news. The best possible thing I could do is to put all of my time and energy into something positive. Just a couple of weeks of riding a complete emotional roller coaster, I woke up one day and it hit me like a ton of bricks. I have to do something!
My positive is this…God has chosen me to be #3 in the United States with Late Onset Sandhoff disease in order to give the research team a chance to study this disease to give these children more time with their families. As of now, there is no cure or treatment for this horrible disease. My desire is to change that!! I am trying each and every day to take the focus off of myself and how I am affected, and focus on what I can do to help these children and the people affected with this horrible disease in the future. I will be flying to Washington, DC for testing sometime in the spring and my family and I will also be attending the NTSAD family conference in Orlando, Florida in April. I do have children who have not yet been tested and the percentage is extremely low that they would be affected. At this time, I am still mobile without assistance. I do however, have to avoid running, squatting, lunges and have to take extra precaution using stairs.
I refuse for this disease to take away my normalcy! There are days I run around like crazy trying to keep up with our two youngest children between year-around sports and high school dances which I will continue to do as long as the good Lord allows! I will also continue to work at my current employer as if I have never been affected! I'm so very blessed to be backed 100% by the most supportive husband, children, family & friends. I've always been told, and now the test is on, your attitude is always half the battle right? "HOPE KNOWS NO BOUNDARIES! TOGETHER WE WILL FIND A CURE!"
To learn more about Sandhoff disease in all its forms, visit the National Tay-Sachs & Allied Diseases Association (NTSAD) website at www.NTSAD.org. They have been around for nearly 60 years caring for families and funding the research that will hopefully lead to treatments and cures for these life-changing and life-limiting diseases.