Rally for Reed - Reed's Story - Nemours Blog


Rally for Reed – Reed’s Story

Reed’s parents started noticing abnormalities in his size and bone structure from an early age. At first, there didn’t seem to be a reason for concern because his size was not extraordinary in comparison to the height of his parents. Doctors and friends alike often said, “small people make small kids.” However, Carolyn and Justin both work in the healthcare system and couldn’t ignore their personal worries. Along with his short stature, Reed experienced GI issues, would snore, and vomit more than his peers.

At two years old, Reed dropped off the weight chart and began vomiting more, so his pediatricians ordered some tests. The original assumption was that something was wrong with Reed’s esophagus. However, after many blood tests, thyroid testing, an endoscopy, and a visit to the ears, nose, throat (ENT) doctor, it appeared there was something else to blame. Finally, an endocrinologist recommended a full-body skeletal survey. The constant testing was tiring for a two-year-old. Adding to the stress was the weeks long wait it would take for results to come back. In March 2020, when Reed was three years old, the skeletal x-rays came back indicative for Mucopolysaccharidosis type IVA (Morquio syndrome).

Stuart Mackenzie, MD, Orthopedic Surgeon, Nemours Children’s Health, Delaware, describes Morquio syndrome as “a rare genetic disorder in which an enzyme deficiency results in the incomplete breakdown of cellular byproducts…and that can cause changes throughout the body, including abnormalities in how bones grow and calcify.”

Reed’s parents headed to Delaware after hearing about ShunjiTomatsu, MD, PhD, Nemours Children’s Health, Delaware and his NIH-funded study on Morquio syndrome in a Facebook group for families affected by this disease. Reed was diagnosed with Morquio Type B, which unlike Type A, you cannot treat with Enzyme Replacement Therapy (ERT). The next couple of months were very intense and despairing for the Rinon family. At the time of Reed’s diagnosis, the COVID-19 pandemic had just begun, and both of his parents were frontline healthcare workers. Not only did they deal with stress and loss at work, but they also had to come home to a child with a very scary diagnosis. The pandemic also meant that for all of Reed’s appointments, hospital visits, and infusions only one parent was allowed in the room. Carolyn and Justin were used to working as a team, one parent absorbing the information from the doctor while the other comforts their child. They both felt lost. Carolyn remembers the frustration of “being able to help so many people in the world, but not being able to help your own son.” Reed’s family was consumed with the fear of their child’s well-being, the costs of continuous doctor visits and foreseeable surgeries, the struggle to keep working, and the need to provide attention equally among their two children. Reed receives a lot of special care, so Carolyn and Justin make sure to give their daughter, Ruby, her own time to shine. Although she was not diagnosed with Morquio syndrome, they still struggle with the reality of Ruby having children in the future because she is a carrier.

The Rinon family works hard to ease the discomfort Reed’s infusions. Prior to treatment with Nemours Children’s, it was hard to find doctors with the expertise and patience it requires to treat a young child with a unique and complex diagnosis. Carolyn was relieved to find Nemours, Dr. Mackenzie, and the rest of the team as they are experts in Morquio syndrome and treat the Rinon family as their own. Carolyn often says, “It felt like home, like we finally found our friends.”

Reed’s entire life is filled with constant appointments; therefore, it is important that he feels as comfortable as possible. Nemours provides Reed with everything necessary to make his stays easier including some of Carolyn’s favorites: toilets for small people and wagons to transport Reed around the hospital. Reed recently traveled to Nemours for surgery on his hips, knees, ankles, and growth plates. Now, he is recovering at home and continues to progress with the help of a nurse and the entire family by his side.

Although it is unknown what Reed will encounter in the future, his doctors and family are optimistic to see improvement in treatment options.

Reed is a very sweet and smart boy. He has an extremely kind heart, despite the discomfort he encounters. Reed constantly has the staff laughing with his bright spirit. He has a passion for reading and is already at a fifth-grade reading level in kindergarten. He also loves to play the drums! To show their support for Reed and the Rinon family, the women in their lives have gathered to create “Rally for Reed.” The big fundraising party occurs every year in September with thousands of people gathering to show Reed just how special and loved he is. The event includes food trucks, raffle fundraising baskets, a live band, and a lot of community love. Reed’s parents find it extremely important to keep the relationship with the community strong and they are all so thankful for the endless support. Be on the lookout for Rally for Reed this September!

Guest Contributor

Like and follow Nemours on Facebook, Instagram, Twitter, and LinkedIn.