Jocelyn Duff didn’t expect to feel the contractions as early as she did. She wasn’t due for another two weeks. But this is something they were ready for. With the overnight bag already packed, Jocelyn and her husband John made a break for the hospital.
Little Talia was about to meet the world.
But something was wrong about this birth. Talia lacked the regular muscle tone of a newborn and her limbs were frail. Jocelyn recognized the horizontal fold jutting across her palm as a sign of Down syndrome.
It’s something they tackled head on, with cautious hearts and a positive mindset. When the shock subdued, they quickly immersed themselves in the motions of raising a child with Down syndrome, and all of the challenges that it posed.
Talia’s smile was a thing of pure beauty and as a toddler she blossomed with accelerated mind development that exceeded their expectations. It was her body that lagged behind in normal development, however, missing all of the major milestones of childhood.
Things took a turn for the worse when she fell gravely ill with a virus at age three, a virus that would not go away. They knew this was more than just Down Syndrome. Something else was amiss.
So the investigations began at Boston Children’s Hospital and after a slew of tests, the diagnosis was in: chronic inflammatory demyelinating polyneuropathy, or CIDP. This rare neurological disorder is characterized by inflammation of nerve roots which leads to loss of nerve fibers. To learn more, click here.
Fortunately, CIDP was something that could be cured with a number of potent steroids and regular infusions of antibodies. The treatments worked smoothly.
But things kept getting worse.
The steroids led to her developing osteoporosis. Her frail limbs began to dislocate at the knees and hips. It seemed like with every positive result, they went right back to square one.
The results from a new screening came in soon after. The doctors deduced that Talia was suffering from a rare genetic mutation that was associated with a disease called CMT4J, a slower form of ALS. This disease is so rare that Talia is among 22 people in the world to have it. To learn more about CMT4J, click here.
Now that there daughter joined the rare disease community with her newest diagnosis, they faced the next set of hurdles in this ongoing struggle. News of their resilience spread throughout their small seaside town of Ipwich. Money started being raised all over town that went directly to Cure CMT4J. Once they raised enough money, they began the recruitment process, hiring an eclectic cast of characters to act as their leading experts on the disease, all hustling together to find a cure. It was something like the Ocean’s 11 recruiting montage, only with less Brad Pitt.
But even the hardworking team wasn’t enough as they were still short the necessary $1 million that would allow gene therapy for Talia. They have currently raised approximately $300,000 for Cure CMT4J and after some clinical trials on mice, the Ocean’s 11 crew has indicated that it’s working. The next step is testing it on an actual human.
The hard truth, and perhaps unfair truth, is that after this epic saga of resilience, hope and fundraising, it’s still uncertain whether or not Talia will be with us in a year. But they are in too deep and at this point, are committed to seeing Cure CMT4J through to the end.