After many years of debilitating symptoms and seeing over 30 doctors, Alys was finally diagnosed with an extremely rare genetic neuromuscular disease called Lambert-Eaton Myasthenic Syndrome (LEMS). LEMS causes profound muscle weakness, affecting her ability to walk, lift her arms, sit upright, speak, and swallow. It also has devastating effects on the autonomic nervous system. Sixty percent of patients are diagnosed with cancer within the first two years, but so far, all of her cancer screenings have been clear, and we remain hopeful.

As part of her treatment for LEMS, Alys’ doctor ordered IVIG, and she underwent two rounds of intravenous immunoglobulin therapy. While the treatment helped her LEMS, she suffered an extremely severe and rare complication both times: aseptic (chemical) meningitis, which is inflammation of the protective membranes surrounding the brain and spinal cord. Unlike bacterial or viral meningitis, chemical meningitis can take months to resolve.

Complications from prolonged meningitis inflammation caused her to develop a spontaneous cerebrospinal fluid (CSF) leak. Because of an underlying genetic connective tissue disorder called Hypermobile Ehlers-Danlos Syndrome (hEDS), which she has had her whole life, she has a greater risk for both developing leaks and having interventions fail.

A CSF leak occurs when the membrane around the brain and spinal cord develops a hole, allowing the cerebrospinal fluid to leak out into the surrounding tissue. Our brains are cushioned and supported by cerebrospinal fluid, and when there is a leak, the brainstem sags downward due to loss of CSF pressure. CSF pressure and the brainstem regulate many vital functions, and this leads to a wide range of debilitating symptoms.

Recovery after intervention can take a considerable amount of time. Her first blood patch failed at nine weeks, and she waited over three months for the second procedure. During these three painful months, the CSF leak worsened, and she had to lie completely flat for 20–24 hours a day, rendering her almost completely bedbound. When she was upright, she experienced intense symptoms, including nausea, dizziness, and a pulling sensation in her brain.

She recently had the second epidural blood patch procedure, and although she has had some improvement in her ‘upright time,’ she is far from regaining full symptom resolution. Given what CSF leak patients endure daily and the cumulative damage a leak can cause over time, it’s hard to understand how they are not treated as medical emergencies. So far, this second patch is holding, but the recovery has been extremely long and difficult. The doctors are hopeful that she will continue to improve, but she still has a long way to go. She may need additional procedures or surgery for the CSF leak, but it is still too soon to tell.

She has been unable to work since June 2023. Before her diagnosis, she had a very successful career in entertainment photography, which she loved. Giving up her job has not only come with many layers of grief, but has also been devastating financially. Doctors have declared her totally and permanently disabled, but she refuses to accept this reality. She continues to fight every day, hoping to someday return to work and find a way to give back to the communities that have supported her through this journey.

After exhausting her savings, she applied for long-term disability and was denied on her initial application. This was shocking to all of us who have witnessed the severity of her illness. She has more than 800 pages of medical records and letters from five doctors declaring her totally and permanently disabled. It is very common to be denied on the first application, but we never anticipated that the process would be so long and arduous. She is extremely limited in her ability to care for herself and Roo, her adorable support animal, and we know that it is physically impossible for her to return to work at this time. She currently attends three to five medical appointments each week, including physical therapy, occupational therapy, and a range of other treatments, which take a tremendous toll on her physically. The rest of her limited capacity is used to organize her care, advocate for coverage with her insurance company, and work on her ongoing disability case. Balancing this with her symptom management remains a constant challenge. Battling chronic illness is a full-time job in itself, but this is the only path forward, and she remains committed to doing everything she can to regain functionality and continue her healing process.

Her specialized care requires a premium insurance plan. Even with good insurance, Alys still incurs astronomical out-of-pocket costs for her many medications, treatments, and alternative therapies. One of her specialty medications for LEMS costs $860,000 per year before insurance, and she risks losing access to this medication and other necessary treatments if she cannot meet her fundraising goals.

How You Can Help:

As Alys continues to recover from her recent CSF leak repair and manages the restrictions of LEMS and her other conditions, she still requires a great deal of help from her friends and family. Maintaining as much independence as possible is very important to her, and staying in her apartment with her support animal, Roo, is an essential part of that. She needs assistance with her out-of-pocket medical costs and basic living expenses as she works through her disability appeal process and continues to heal, which could take a year or longer. It has been tough to watch our once vibrant friend struggle to make it through each day, but she has not lost her light. We are constantly amazed by her ability to remain strong, hopeful, and somehow still full of joy.

All donations made through Helping Hands are fully tax-deductible and will go directly toward helping Alys cover her medical expenses, treatments, and living costs. She is deeply grateful for the support of friends, family, and others who have been there for her through this difficult time.