We have the honor of taking care of a lot of kiddos who have rare diseases (a disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time), and are amazed every day by the progress they make.
As we prepare to celebrate Rare Disease Day on February 28, we connected with a couple patients whose stories you may have seen on our website before, Leo and Garrett. A lot has changed for both of them since we met them in 2017 (like two decannulations), but one thing that still remains is their incredible determination and ability to surpass expectations set before them.
Learn what these boys are up to now, and let us know how you’ll be celebrating Rare Disease Day with your loved ones.
Leo was born with infantile Pompe disease, which means his body lacks the enzyme that breaks down sugar and glucose, causing it to store in his muscles. When we first met his family in 2017, he was a 15 month old boy who required a trach and vent to support his respiratory system and weekly infusions to replace a missing enzyme, but was surpassing expectations and thriving at home.
Fast forward 2 years and this little boy, who will be 3 years old in May, is decannulated and has moved along much faster than anyone predicted. While he will always require weekly infusions to replace the enzyme he is missing, his respiratory needs are much less and only requires occasional check ups from Carrie.
Recently, he started scooting during pool therapy, can roll over 90% of the way on his own, speaks over 50 words, and he is starting preschool next year – all things many never thought would happen.
Leo has double hip surgery in March which will hopefully allow Leo to stand and move one day, and attends therapies four times a week.
“We know that we have a long road ahead of us still. But we have a good team of doctors, wonderful nurses, and great companies that help us keep him safe and healthy,” says his mom Anne. “That in turn keeps us happy and hopeful for the future.”
Meanwhile, his parents have put experience into action and started the Pompe Warrior Foundation, which was founded to “promote research, educate, and empower individuals and families affected by Pompe Disease and other rare diseases.”
Pompe Warrior Foundation is starting a study at the Mayo Clinic on the effects of a ketogenic diet as one of the treatments for Pompe Disease. The Mayo will hopefully be taking new children into the study by March 2019, and funds from the foundation are being used to help sponsor and family and their travel expenses to come participate in the study. They will also be using funds help purchase any other items needed for the diet that insurance will not cover, like a glucose meter, ketone strips, food scale, etc.
The foundation is hoping to raise $20,000 by March 2019 to sponsor 5 families – if you’re interested in supporting the Pompe Warrior Foundation, you can visit their website or go to their Go Fund Me page, and follow them on their Facebook or Instagram pages to keep up with their progress.
We introduced you to Garrett in 2017 – a spunky, vibrant boy who loves sports and sleepovers, and at that time required a trach tube to support his respiratory system. Born with spina bifida, Garrett has had medical needs his entire life and PHS has been there for the journey, working alongside his family and providers to wean him off his vent and trach. Read on to get an update on Garrett’s health, hobbies, and outings!
Today, Garrett is proudly decannulated and has not missed nearly as many school days due to illness this year. He still receives the majority of his nutrition via G-tube, but has been cleared to eat and drink deveral different consistences at larger volumes. And while he requires oxygen when he sleeps as well as a few other interventions typical of children born with spina bifida, Garrett has grown an incredible amount over the past year as he was able to get more involved in activities after decannulation.
“Garrett still enjoys basketball, softball, sled hockey, and video games,” says his mom, Melissa. “He has added swimming and downhill skiing to his list of hobbies since being decannulated! He went tubing at the lake this summer for the first time ever and absolutely loved it!”
Garrett has enjoyed gaining more and more independence as he no longer needs 1:1 nursing at school or at home and his grandparents have been able to take him on outings without a nurse or one of our family members with him. With it being much easier to travel with him, his family has been able to participate in more out of town tournaments for his hockey team.
Originally published: January 31, 2019