A long search leads to a diagnosis and the birth of a foundation

When my daughter Ginny was born seven years ago I immediately knew something wasn’t right. Call it mother’s intuition. She failed her newborn hearing test and, as she grew older, we learned she had poor muscle tone, trouble feeding, and struggled to meet basic milestones.  She developed very slowly, but steadily made small amounts of progress.
It would take two years before we knew what was wrong.
Before her first birthday, we had started what I have come to call our diagnostic odyssey. We saw an otolaryngologist, neurologist, geneticist, neurosurgeon – and the list went on and on.   
We did an MRI of her brain and it was abnormal. The neurologist thought she’d had a stroke in utero and wasn’t all that concerned. But I pushed for more physical therapy, more occupational therapy, and more speech therapy. I knew something wasn’t right.
Our local geneticist put Ginny through another round of testing. By this time we knew she had vision as well as hearing loss so Ginny was tested for Leigh Syndrome  and Usher Syndrome. We kept working and evaluating her, and I kept learning more about various genetic diseases.
We finally got a diagnosis in May 2010, just before Ginny turned two. She had Peroxisome Biogenesis Disorder – Zellweger Spectrum Disorder (PBD-ZSD), a genetic, terminal, neurodegenerative condition that affects all major systems in the body. Sensorineural hearing loss, vision loss, retinitis pigmentosa, kidney and liver issues, osteoporosis and adrenal insufficiency can all be symptoms of PBD-ZSD.
I told our doctor, “I really need to talk to another parent.”
It was a terrifying and daunting diagnosis to receive as a parent. We dropped everything and drove to Baltimore to meet with a physician who had experience with PBD-ZSD at Kennedy Krieger Institute at Johns Hopkins University.
He evaluated Ginny and answered all our questions, which included “How long will she live? Will she lose all her hearing and vision? Can we have other children?”  At the end of our three-hour visit with him, I asked whether he could give me the name of another family going through this. I told him, I really need to talk to another parent. He gave me the name of another mom. That night I connected with her and shortly afterwards we launched The Global Foundation for Peroxisomal Disorders.  
The mission of the GFPD is to foster research on PBD-ZSD and provide support to families facing this devastating disease. The GFPD just celebrated its fifth birthday and we have accomplished much in a short period of time.  We’ve hosted several Family and Scientific Conferences and granted $140,000 to researchers looking for viable treatments for PBD-ZSD.
Five of my relatives have been tested by Counsyl and I believe there will be several more.
Ginny passed away in April so it has been a challenging year. Her death has motivated my extended family to get the Counsyl test and find out whether they, too, are carriers for this disease. I recommend Counsyl because the PEX 1 genes can be detected along with a myriad of other genetic diseases. Five of my relatives have already reached out to Counsyl and I believe there will be several more. I come from a big family, many of whom are in the process of getting married and thinking about having children.
I was never screened when I was pregnant with Ginny. I asked my doctor about prenatal genetic screening because my husband’s mother died of ALS. I was told “You’re healthy and have no family history of genetic disease. It’s not something you need to do.” Here’s what I now tell anyone who will listen: “The best thing we can do to combat genetic disease is to make sure babies aren’t born with one.”

-Melissa Bryce Gamble