I will be taking on the challenge to run the Boston Marathon on 04.21.2014. This will be my third marathon if I make it to the start line! My goal is to increase awareness of Rare Genetic Disorders and to raise funds to support early diagnosis initiatives by the National Organization for Rare Disorders (NORD).
It is my tremendous honor and privilege to partner with Melissa Higgins to raise awareness of Rare Disease and to be part of this year’s Genzyme Boston Marathon running team. Melissa lives with Niemann-Pick Type B (N-PB) while balancing an active lifestyle with her family.
The first time I spoke to Melissa was two weeks ago and I was in awe about the obstacles she has overcome to chart a normal course in her life despite the challenges of living with N-PB. My words cannot do justice to her story, but here is my humble attempt to recount her journey.
Melissa was diagnosed with N-PB on April 8th, 2011 at the age of 31. She is a mother of two very active young boys (Andrew, 12 and Wil, 10). In September 2003, five days after giving birth to her second son, Wil, she developed a fever. She was admitted to the local hospital for eleven days seeing a wide range of doctors. Since the major complication was enlarged spleen, it was determined that she had mononucleosis and a severe case of CMV infection. For the first 6 months, her newborn baby son was cared for by her father, while her husband, Michael, took care of Andrew. During this time, she was unable to hold her 7 lb. baby, walk straight and ran a constant fever for two months straight!
In December 2003, Melissa was able to return to work, however, a month later on Andrew’s second birthday the fever returned. It lasted for over 2 months this time. For the next 7.5 years, she went from specialist to specialist, including family MD, gastroenterologist, neurologist, cardiologist, oncologist, ENT, and ID, but the tests showed nothing other than an enlarged spleen (double in size). On February 2nd 2011, upon the recommendation of her oncologist, her spleen was removed as it was growing at an alarming rate and was in danger of being ruptured. On February 3rd 2011, her oncologist told her that she had a genetic Lysosomal Storage Disorder, and was referred to a geneticist at Duke. On April 8th 2011, after just a 30 minute examination, the geneticist at Duke gave her a diagnosis of N-PB and told her that there was no treatment or cure available and the condition was fatal. Shortly after being given this life-changing news, she was sent home with some literature on N-PB. Luckily in that reading material there was information about the national N-PB disease foundation (www.nnpdf.org) and a specialist in NYC, Dr. Wasserstein at Mt. Sinai. Unfortunately, since Melissa’s spleen was removed, she was not eligible for enrollment in any clinical trials.
Since the age of 5, Melissa always felt that there was something not right internally, but could not really put her finger on it. She mentioned to me that “…KNOWING something isn’t right with your body can take a huge toll on your mental wellbeing.” I am really looking forward to meeting Melissa in person in near future and having her as part of the race on April 21st!