I Appreciate Resources That Enable Me to Learn About Rare Disease
I have come to appreciate the act of learning late in life. Until recently, I had taken for granted the ability to go to school, learn, and be educated in the field of my choosing. It was something I was expected to do, so I did it, mostly with little passion or thought.
When our daughter was diagnosed with Lambert-Eaton myasthenic syndrome, I was forced to educate myself on topics I never thought I’d need to know about: rare diseases, diagnostic and genetic testing, and treatment options for LEMS patients. This was no longer classroom learning, but hands-on, critical learning. This learning needed to happen in order to preserve and restore our daughter’s health. I was no longer ambivalent about education, but pursued it relentlessly in the hopes of helping our daughter.
The more I connect with the LEMS community, the more educated I become about the myriad treatment options available. Grace was diagnosed over two years ago, and since then, we have tried many treatments.
Grace began with a low dose of Mestinon (pyridostigmine), along with prednisone. Once her diagnosis was confirmed, we added in Ruzurgi (amifampridine). At that point, Grace could barely walk. Ruzurgi enabled her to get out of bed in the morning, and she began her journey back to mobility.
Eventually, the doctor weaned her off prednisone and added monthly intravenous immunoglobulin (IVIG) infusions into her treatment plan. IVIG helped with her tiredness, but she had a lot of ups and downs throughout the month. Finally, the neurologist referred her to a rheumatologist, who recommended we try Rituxan (rituximab).
Rituxan helped Grace turn the corner and lead a more productive and full life. Of course, she couldn’t go more than a few hours without her Ruzurgi, but Rituxan gave her the most steady improvements. Over the course of a year, we continued to see Grace’s strength improve. She started asking to do more throughout the day, and resumed some social activities she was unable to do prior to Rituxan.
Throughout this journey, I have learned that each patient responds differently to the various treatment options. For Grace, Rituxan was life-changing.
Now, I appreciate the availability of educational tools for parents and patients with rare diseases. I also have a newfound appreciation for those who dedicate their life’s work to developing treatments and cures for rare diseases.
Note: Lambert-Eaton News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Lambert-Eaton News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Lambert-Eaton myasthenia syndrome.