I gave birth to my son via C-section on July 18, 2011, at IU Health La Porte Hospital. My son was air-lifted to Riley Children’s Hospital in Indianapolis where he was diagnosed with Smith Lemli Optiz Syndrome (SLOS), a metabolic disorder. This gene codes for an enzyme that is involved in the production of cholesterol. People who have SLOS are unable to make enough cholesterol to support normal growth and development.
SLOS is inherited in an autosomal recessive pattern. Because it is recessive, a child will not have the symptoms of the disorder unless both parents pass on a defective copy of the DHCR7 gene. This can only happen if both parents are carriers. There is no cure for SLOS.
My son, Mason, spent the first months of his life in the NICU at Riley’s. He came home for a day or so and we were air-lifted back. We brought him home for another week or two and again were sent back. This went on throughout the first year. Children with SLOS aren’t expected to make it their first year, as their bodies are so small and fragile and can’t handle the syndrome and the things needed to make their lives livable.
In April of 2012, we held the Little Mason Fundraiser and Softball Tournament, which was brought to us by Terry Sherrill, GSL Indiana State Director State Umpire in Chief. The proceeds helped ensure Mason had whatever he needed, gas to travel to Indy, medical items that weren’t covered, special clothing, and special feedings.
Mason had roughly 20-30 surgeries and procedures in his first year, and a few more the following. Mason was a fighter who brought great joy to everyone he encountered.
In April of this year, we noticed Mason wasn’t passing stool and his abdomen was becoming very swollen and hard to the touch. We took him to the local ER and were transferred back to Riley’s. He had stool impaction and was put on new medication to kill the infection. Less than 24 hours later, he passed away.
We held services on April 6th and lit the night sky with floating lanterns in hopes that he would see them wherever he is and know how much we all loved him and miss him.
I want to share this story in memory of Mason and ask for donations to Riley Children’s Hospital, the place we called home and where Mason spent a lot of his time, and also to the SLO/RSH Foundation, to fund research in hopes of one day finding a cure for this syndrome. Since his passing, his father and I have collected donations for the hospital, including Mason’s favorite items, to add a little joy to the children who are patients in the hospital. We have collected 55 Oballs for Riley’s and 12 for St. Joe. We add a little note with each one about Mason and our mission, a way for our son to live on.
For those interested in helping us support our mission, visit the fundraising website here.