‘Your choices are going to dramatically affect your child’s life’ – Parents of kids with rare diseases have to make big decisions with little information
UpdatedJanuary 9, 2020

Thaddeus, 6, has a rare disease called NF1. His parents have to manage his care with the limited knowledge available about the disease.

By Catherine Cooke Thaddeus, an NF1 patient

With a name very fitting to this 6-year-old’s life journey, Thaddeus Ryan, which means “courageous little king,” is bravely battling a disease many have never heard of: neurofibromatosis type 1 (NF1).

The genetic disorder causes tumors to grow on the nerves of an affected individual. Tumors can pop up on any nerves throughout the body and range from harmless to life-threatening. It is a lifetime battle where many patients must receive an MRI every three months to ensure nothing new has developed.

In Thaddeus’s case, an optic glioma has left him legally blind in one eye, despite having had surgeries at 10 days, 3 months, and 6 months old. For reasons not yet totally understood, NF1 also presents itself in a myriad of other ways. There is no prognosis because it is not predictable. For Thad, it has presented in ADHD, glaucoma and developmental delays.

His mother Jess describes his daily life as challenging.

“He has some behavioral issues, has also been diagnosed with ADHD and… is delayed in all categories except his intelligence,” she said. “He has speech delays and physical delays. Other than all his challenges, he’s a normal kid. He’s an amazing kid.”

There is no current cure for NF1, and even though it’s a disease that usually appears in childhood, many treatments are not available to Thaddeus because of his young age. He can’t swallow the pills that are a part of many clinical trial drug treatments, so “the treatment for NF1 has been ‘wait and see,’” Jess said.

It’s tremendously frustrating for his parents who have had to make life-altering calls for Thaddeus with very little guidance or direction:

“It’s difficult to watch your children have challenges and not know how to help. With a rare disorder, there’s not an answer… so it’s very confusing to have to make these choices and understand that your choices are going to dramatically affect your child’s life.”

Jess believes that more research is the answer to helping Thaddeus thrive because “we don’t know what it’s like to live in his world and the things that he faces. Being able to understand [more about NF1] can help set people with NF1 up for success.”

To help advance research for NF1, Jess has signed up Thaddeus for RDMD, an online platform where they can store his medical history and contribute to drug research alongside other NF1 patients all from home.

“RDMD is a tool that gives control to the patients. I think it’s very important for patients to be involved in finding treatments and working in collaboration to end NF.”

Above all, Jess’s main focus is thriving.

“I really want to be able to provide for [Thaddeus] in a way that allows him to thrive as the person he is,” she said “Any platform that will help people thrive is something we’ll get behind. That’s what we want to see happen.”

Despite a world of doctor’s appointments, medical practitioners, and surgeries, Thaddeus is still a smiley 6-year-old who loves playing with his friends in kindergarten.

“We’re all people who face challenges. Some of our challenges are just a little more apparent than others… We all need help,” Jess reminds us all.

If you or a family member have been diagnosed with NF1 and are interested in contributing to research from home, learn more at rdmd.com/nf1.

Originally posted at January 9, 2020

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