Living with LOTS
Recently I have been contemplating my life, pondering my journey and how I got to this moment. I am 49 years young and disabled. I have a disease called Late Onset Tay-Sachs (LOTS). Late Onset Tay-Sachs is a rare, neurological, progressive genetic disease that causes dysarthria or speech impediments, tremors, and its most known symptom is weakness in the legs, which causes balance issues and falls.
There is no current treatment or cure for this disease. LOTS is both physically and emotionally challenging for those affected. But this story is not a sad tale, it is one of triumph, and one I wanted to share with the world.
The Beginning
I wasn’t diagnosed with LOTS until I was in my early 20s. I had grown up with various symptoms that featured speech and physical issues. My voice cracked when I spoke, and I felt awkward at times with movements, but never had any idea why. I had early indicators of LOTS but no clear-cut evidence a disease was brewing inside of me. After I graduated from college, I took a blood test and finally had the answer to why I had the issues. I’ve always had a very supportive family, and as the disease progressed, I would need them greatly.
LOTS 101
LOTS disease is often misdiagnosed as other neurological diseases by doctors who are unaware that LOTS exists because of its rarity. Parkinson’s, Multiple Sclerosis, and ALS have similar symptoms to LOTS. There are blood tests that can identify LOTS and can tell the individual whether they are a carrier, and if they have the fatal infantile form of Tay-Sachs or the late- onset version that I have. Both parents need to have the recessive gene, Hex A , to possibly have Tay-Sachs if they have LOTS or LOTS disease. LOTS is most prevalent in Ashkenazi Jews, Irish Americans or French Canadians. There are current clinical trials that are happening, but no successes yet in terms of treatment or cure. I was in a clinical trial as well , with a drug called Zavesca, several years ago at the Cleveland Clinic. Unfortunately, there were no permanent positives from the drug. The clinical trial was temporarily positive with my speech impediment, but there were horrible gastrointestinal side effects, which were intolerable. So here I am, with a disease that is incurable and affects me and my future. So what do I do now?
The Support System
First, I want to say that having a strong support system is key for fighting this disease. It is a daily battle and one you cannot fight alone. With that said, my deceased mother was (and is) my hero. First, she started the Late Onset Tay-Sachs Research and Education Foundation. She purchased a safe haven for my older sister and her young children that I am able to visit, and also a wonderful condo for me. It has a ramp to get into my building, large doorways for my wheelchair or walker, and a roll-in shower. In addition, my mother helped me purchase an electric toilet, which assists me in getting up unassisted from it. My family and friends have been invaluable to my life and my well-being. As challenging as life can be, I have adapted and chosen to live the best version of my life, which still includes getting out to sporting events, going to the beach, heading out to dinner—little things that many take for granted. But these are big events for me. I love the experiences I have with people when I get to go out and be part of the world, not remaining limited to my home because of my physical challenges.
The Mental Game
Before, and even after my diagnosis, I didn’t know I would need a walker or wheelchair or not be able to have a family of my own. I was very naive about how this would change my life. Those afflicted are relegated to wheelchairs, walkers, and canes. Some need to use hoyer lifts, hospital beds or diapers. LOTS is not just a physical disease, but a mental one as well. I have experienced several bipolar or manic episodes and depression issues that are controlled by medicine. I must deal with doctors, therapists, mood disorder medicine, and pharmacists constantly. And if this isn’t enough, it gets more challenging and frustrating that most people are unaware of what it is like to live with progressive diseases when I have to suffer on a daily basis. Bipolar, depression, and suicidal tendencies often occur with those who are diagnosed with LOTS. It is advisable for those diagnosed to see a neurologist, psychiatrist, and psychologist to receive medication and combination of these as each person’s body is affected differently by the disease. Sitting in a room with limited capabilities can make a person sink into depression. How you look at life and yourself can be a very challenging mountain to climb. It is important to remain positive and to focus on living the best version of life you can grasp at. But the physical limitations can greatly impact things you want to do. And it is important to recognize what you can and cannot achieve on a day-by-day basis.
The Physical Game
Currently, I use a walker, wheelchair, and electric recliner. Unless homes have flat entrances and exits or ramps it is impossible for me to visit, because of LOTS. Going up or down curbs, stairs or sitting in public restaurant toilets are very difficult. Other issues can plague me as well, some that have no yet occurred. Swallowing becomes a problem as the muscles throughout my body become weaker. Therefore an emergency button, like a Life Alert or Lifeline button, is necessary in case I choke and fall. Whether in a public place or in your home, it is advised to always carry this button for emergencies. Even if others try to give you helping hand, the brain and legs do not work through the blood barrier preventing the assistance.
Therapy to Live
Being involved in speech, occupational, physical, and aqua therapy exercise is very important to maintain my strength. Stretching muscles prevents them from atrophying. There is fine line as muscles are already weak and exercising them too much is not helpful. In addition to physical therapy to keep my body as healthy as it can be, psychological therapy can provide a big assist to those who have dark feelings or feelings of helplessness. The therapies that treat the mind and body can be just as valuable as medication that treats the symptoms of LOTS. That is a main problem, no medication exists to pass through the blood brain barrier. Many of those diagnosed may need family support and caregivers to help cook, clean, do laundry and dishes, as well as pick up things on the ground as those affected, including me, are unable to do so. Also, I may need additional help taking a shower, doing bathroom help, organizing medication, and assistance with creams (putting on medicine), and dressing. In addition, I need assistance out of my hospital bed in the morning hours. Another difficulty is using a disabled transportation which transport vehicles that support wheelchairs. The blood brain barrier does not allow any medicines to enter the brain, which leads to LOTS and irregularities in finding a treatment or cure and stop the progression. This is a vital part of living with LOTS.
The Future
My mother, when she was alive, along with my aunt, attended conferences to keep abreast of the cutting edge research about this disease. They met with families whose relatives have the disease. My mother was determined to make the doctors and the lay communities aware that this little-known disease existed.
She invited everyone she knew to have fundraisers. She invited guest speakers to educate about the disease including radio talent Dennis Prager, UCLA Neurologist Dr. Susan Perlman, Scripps Scientist Evan Snyder, and UCLA President of Pathology Wayne Grody. She raised funds by conducting silent auctions, hotel accommodations, fine
dining, amusement park passes, plane tickets, jewelry, movie passes, clothes, etc. She also widened her scope by having silent auctions online. I also helped with the fundraisers, wrote a couple articles in the Los Angeles Jewish Journal, and appeared on a Los Angeles Health watch segment. My aunt and my family are making my mother’s dream for a cure possible by continuing with fundraisers, attending conferences and engaging in public relations in whatever ways possible. I am working on a website that will be informative and spread the word.
Closing Thoughts
LOTS is not a death sentence, it is simply a different way of life; challenging, yes, but different. People must have a positive attitude and not “live” as if they were dead. I try to inspire others by traveling short distances, attending basketball games or other sporting events, attending the theater or/and going to concerts. The idea is to show others who are sick with disease that they are alive. You can enjoy your life and socialize. These activities create the goal of being happy and living your life to the fullest. I believe strongly in this, and I hope others can find their peace in living. I will not stop living my life because LOTS takes small things away from me. I will continue to go places, to socialize, and to enjoy the little things available to me. I know medicine will catch up to this difficult disease, but in the meantime, I encourage others to fight to live, just as I do, each and every day.