Randy Gene “RG”
|Type of Gift||Fun Items|
|Diagnosis||Congenital muscular dystrophy and autism|
|Gift Requested||Financial assistance towards a family trip to Disney World|
|Price of Gift||$5,000.00|
Why we requested this gift
When thinking through what exactly would be a gift to us in this time and why, my husband and I just want to ensure they have happy memories. The boys love traveling and seeing new, engaging places. We really want to continue taking them to see as many places as possible, so the gift of travel would be the best way to provide those memories. I am unsure specifically what we would want to do, but it would be such a gift to have those memories of the four of us while they are still able to be active. They love water, I think it allows them the freedom to move their bodies in ways that gravity doesn’t allow on land. We also plan to take them to Disney World at some point as well, but not knowing what they might be limited to could be a challenge there.
I never anticipated that we would have not one, but two children affected by a rare genetic disorder. As much as I want to be hopeful for the future, sometimes the fear that I would lose my children or that they would be in tremendous pain breaks my heart. To be able to have a time where my husband and I can give our undivided attention to the children and forget about all of the struggles that we face ahead, even for a little while, would honestly be such an amazing gift.
I really appreciate any help or consideration you give to this; you are doing such an incredible service to families who are going through difficult, hard issues.
We are a family of four, myself, my husband Andrew, our son Randy Gene (RG) (4), and our son Waylon (2). Randy Gene was born at 24 weeks while I was on a trip in Athens, Greece. My water broke prematurely, and I was rushed to the ER on the first day of the trip. After 5 days of bedrest, RG was born 1 lb 5 oz. RG stayed on a breathing tube for 7 weeks, until he was then put on cpap. After 2 ½ months, we were airlifted home to Northside hospital to complete another 2 months of a NICU stay. He was not diagnosed with anything other than prematurity at that time, apart from an internal brain hemorrhage that was found during an MRI. Luckily, it didn’t grow over time.
After his NICU stay, RG attended physical, occupational, and speech therapy for the next 4 years. Around age 3, his physical therapist noticed that he was failing to meet many physical milestones, so she recommended an MRI. By then, we had our other son Waylon. Waylon had just been walking for a little under a year and I noticed that his upper body was not getting stronger as he grew. I kept an eye on it, but his GP didn’t seem concerned yet.
RG had the MRI and then when meeting with his Neurologist, she reported nothing to be concerned about with the MRI. However, as she observed Waylon beside RG, she noticed that they were both experiencing the same lack of strength (hypotonia). Because it was presented in both, she had genetic testing done for both of the boys and began seeing Waylon as a patient as well. The Neurologist also observed some mild Autism cues, so we had RG evaluated and diagnosed with Autism.
In February 2023, the results came back that both of the boys had a mutation in their LMNA gene, which diagnosed them with a rare form of Muscular Dystrophy named “Congenital Muscular Dystrophy”. Basically, their muscles will continue to slowly atrophy throughout their life. As soon as they were diagnosed, they became patients at the CHOA muscular dystrophy clinic. As well, because of how rare their disease is, we are set to travel to the National Institute of Health in the near future to begin evaluations and learn more about their diagnosis, and we will continue physical and occupational therapies for both, as well as aquatic therapy.
To say this time has been difficult is an understatement. For now, the boys can walk, and for that we are so thankful. They tire easily, so we are limited to how much we can do before giving them time to rest. A stroller or wagon is sufficient now, but we know that may not always be the case. Their cognitive abilities will not fade, but we have to watch out for degeneration in their heart and lung function as they get older, on top of a decrease in ambulation. We are thankful that they don’t yet understand the complexities of their diagnosis, but my husband and I live a battle every day. We are constantly reminded of what our children will be limited by, and it is heartbreaking to say the least. We aim to give them experiences all children should have, and we are blessed to be able to offer those for the most part. We have no idea what the future holds, so for now we just try to create memories that will last with them forever.