When Fate Throws You TWO Rare Diseases

It was Memorial Day, 1995, when Allison Moore received the devastating news of a diagnosis of Synovial Sarcoma, an aggressive rare cancer with the likelihood of survival being very small. Just 29-years-old and recently married, she was starting the next chapter of her life but paralyzed by the news.

How could this be? Not only was her career taking off, but she and her husband, Robert were planning their future and deciding when to a start family. Allison’s surgical oncologist prepared her that she would need to fight for her life with aggressive treatments and that it would be like “fighting a war” but possible to “win.”

So as a feisty New Yorker, Allison prepared for the worst. She met with a doctor to freeze her eggs; a psychotherapist that specialized in helping young patients undergo chemo; and a hair specialist to make a wig for the expected hair loss. Allison had an amazing support system of her husband and loving family and friends! It was within a week after diagnosis that Allison started the continuous three day IV drip attached to her chest with the start of a 6 cycle regiment (6 to 8 months of chemo.)

Not only was she weak, but within hours of taking “chemo cocktail”, Allison’s feet started flopping and her hands became tired. The doctors flippantly said, “oh this is just a side effect of the chemo, called peripheral neuropathy, and once the treatments are over you should improve and regain strength.” Allison decided to stop the chemo opting instead for surgery, more aggressive radiation and alternative therapies. Today Allison is cancer-free, but her peripheral neuropathy is much worse and progressing every year.

Although Allison won the “cancer war” and was given a clean bill of health, her feet were still floppy and hands were weak.  Each year her legs would get weaker, her gait more awkward and extreme muscle atrophy was setting in despite the physical therapy and other complementary therapies. Allison was very upset! She didn’t understand and continued to seek answers from the medical community. She went from doctor to doctor with no answers until she came across a doctor who thought maybe she was overdosed on the chemo.

At that point she visited more doctors, mostly neurologists, 7 in total, to finally find out that she had a genetic disease called Charcot-Marie-Tooth, or CMT. Another rare disease blow! CMT affects 1 in 2500 people in the US and can be extremely debilitating. To date, there is no cure for CMT. When Allison received the diagnosis, she did know that her father suffered from something called CMT, but was unaware that it was genetic. Despite that, the CMT was in her medical records but no doctor pointed this out. Later she learned that the chemo was contraindicated and triggered the CMT.

She was outraged and determined to get better and learn everything she could. She was frustrated that there was so little information and that there were no treatments at all. Both the medical community and public were clueless and at that time there was very little therapy development research.

In 2001, Allison was blessed to give birth to her second child and that same year she founded the Hereditary Neuropathy Foundation. HNF is a non-profit 501(c)3 organization which raises awareness, funds research, and educates the medical community as well as the general public about CMT. HNF developed the Therapeutic Research in Accelerated Discovery (TRIAD) as a collaborative effort with academia, government, and industry to develop treatments for CMT. Currently TRIAD involves many groups that span the drug discovery, drug development, and diagnostics continuum. In 2015, HNF hopes to see the first phase III trial for a drug for CMT1A called PXT-3003 from Pharnext, an advanced clinical-stage biopharmaceutical company. This will be a major milestone for the CMT1A community, and for Allison, as she continues her journey to “win the war” against TWO Rare Diseases and continue to be an advocate for a cure for CMT.

March is the Month to Share YOUR Story!

Do you or your child have a rare disease? We want to hear your story. This month we celebrate all patients and their families who speak out on behalf of their condition to raise awareness, connect with others and inspire the community. Make sure to share your story with us by writing to us here.