A Conversation with Kristy and Jane

Kristy and her daughter Jane

Kristy and Jane travel from Connecticut to the Clinical Center a few times a year for follow-up appointments and tests for the clinical trial she is enrolled on. Photo credit: Brooke Bready

Jane has been coming to the NIH Clinical Center for treatment for neurofibromatosis type 1 (NF1) since she was three years old. NF1 is a chronic, genetic disease that one in 3,000 people can develop. Some NF1 patients develop plexiform neurofibromas, which are typically benign tumors that grow on nerves throughout the body. These tumors are usually inoperable because of how and where they grow, so many NF1 patients participate in clinical trials that study different therapies to shrink or slow the growth of these tumors.

Jane has a plexiform neurofibroma on the right side of her face, jaw and neck. She is currently enrolled in a trial with Brigitte Widemann, M.D., that tests Selumetinib, a MEK inhibitor, and her tumor is now 30.7 percent smaller than when she first started this trial three years ago. Her diagnosis has changed the lives of her family but has also given them new passions and perseverance.

How old was Jane when she was diagnosed?

Kristy: Jane was 3 months old when our pediatrician suggested the diagnosis. She was 6 months old when it was confirmed.

How did you find out about Dr. Widemann and NIH?

Kristy: Jane was seeing Dr. Scott Plotkin at Massachusetts General Hospital for her NF.  By 18 months, her plexiform neurofibroma was growing at such a pace that he referred us to Dr. Widemann.

How has CCR’s NF team and clinical trial program impacted Jane’s treatment?

Kristy: It has been life-changing. Jane first participated in a clinical trial with Dr. Widemann from ages three to six. The medication, Pegintron, temporarily slowed the growth of Jane's tumor. When her tumor grew so much that she no longer qualified for that trial, Dr. Widemann helped us to find another trial in Indiana with the drug Gleevec, which she thought was promising. Finally, Jane's current trial, Selumetinib, has actually decreased the size of Jane's tumor.

If we had not had Dr. Widemann's advice and guidance these past 7 years, Jane's tumor would be double or triple the size that it is now. She would likely be hearing impaired, might have impaired vision and a compromised airway and would likely have had major surgery by now.

What is the best part about coming to NIH?

Jane: Spending time with mom and the Children's Inn. It's fun.

Kristy: I know that she particularly looks forward to opening her mailbox at the Inn (to find a prize) every morning we are there.

What do you like to do for fun?

Jane: Read, play outside and soccer.

As a parent and caregiver, how has Jane's journey impacted/inspired you?

Kristy: Jane's journey has impacted me and our whole family. In part because of the need for Jane and me to travel to NIH regularly, I have had to tailor my career to one which allows more flexible work hours. I started my career as a full-time obstetrician-gynecologist but have had to cut my hours and drop obstetrics in order to manage the needs of Jane and our family.

It has affected my husband and I from an emotional standpoint. We worry about Jane's condition and what the future might hold for her because of NF. It is painful to watch one's child suffer without being able to help.

Jane's journey has inspired me to become an advocate for NF. This has helped me combat the feeling of helplessness! I have been a runner all my life but joined the NF Endurance team, part of the Children's Tumor Foundation, about a year after Jane's diagnosis. Since then I have run twelve half marathons and ten full marathons. I also maintain a blog about our NF Journey and my running for a cure.

Posted on Wed, 05/17/2017