Savannah is a student at Calvin University. She has a younger brother with Marshall Smith Syndrome. Savannah and her brother enjoy swimming together, playing Mario Kart, and playing with his remote control cars. Savannah chose to participate in this project because she loves sharing her family’s story in order to raise awareness about rare diseases and the special needs community. When Savannah was younger, she learned sign language with her family because they were unsure if her brother would be able to speak or not. As a result of participating in her brother’s speech therapy appointments, she developed an interest in becoming a pediatric speech therapist.
Q: How are you connected to the rare disease community?
A: When I was 12, my family adopted a little boy named Jonah with Marshall Smith Syndrome (MSS).
Q: What do you know about this rare disease?
A: MSS is an incredibly rare disease that has affected less than 50 people in medical history. Since it’s so rare, we don’t know everything about the disease. However, we do know it causes respiratory issues due to floppy airways, craniofacial abnormalities such as a small chin, and low roof of mouth. It is also common for MSS patients to have obstructive sleep apnea and most require a tracheotomy. Bones also tend to age faster which means patients with MSS stop growing at a younger age and therefore are shorter than most people which can cause their bones to become more fragile. Other symptoms include developmental delays.
Q: Has your brother’s rare disease affected your daily life and, if so, how?
A: It absolutely has. On a day to day basis, I don’t really think about it. However, my biological siblings and I have all gone into the medical field. Personally, I saw Jonah learn how to talk when he was about three years old. I would go with him to speech therapy and that is how I found my calling. If I had not decided at such a young age that I wanted to be a speech therapist, I probably would not have even gone to Calvin University.
Q: What has been most challenging about having a sibling with a rare disease?
A: Life with a sibling with special needs is tricky especially as he gets older. He’s developmentally like a 4 or 5-year-old but he’s 11 years old now and I think that can be frustrating for him. If we ask him to do something he does not want to do, he throws a fit about it and can get violent if you go near him. Figuring out how to de-escalate the situation efficiently without going near him has been hard.
Q: Why did you agree to be a part of this project? Why is this important to you?
A: I think this project is neat. I love sharing our story because I love telling people about Jonah and raising awareness for the special needs community and to be raising awareness for such a rare disease is cool. I have never met anyone that has even heard of MSS before. I also think it’s important for people to understand that MSS makes Jonah who he is today. I have had people tell me they’re sorry when I tell them about Jonah and that makes me sad because he’s so much more than just a person with a rare disease. He was fearfully and wonderfully made, and I would not change anything about him.
Q: What do you want people to know about your brother beyond his rare disease?
A: Jonah may seem like a 4-year-old in an 11-year old’s body, but he is passionate about tractors and all types of vehicles and knows just about everything there is to know about them. He also loves music and has great rhythm.
Q: How has the community supported you and your brother? What could they have done better?
A: The MSS community helped my mom a lot when we first got Jonah’s diagnosis. A lot of moms and other caregivers for people with MSS reached out to her and offered some advice and answered her questions. They would offer encouragement to her when she was not sure if Jonah would reach certain milestones. One family even drove a couple of hours to spend a day with us which was cool. The general community has been wonderful too. Everyone loves Jonah. We would sometimes have people come up and say “Hi” to Jonah when we were in public and they’d leave and we’d all be asking each other, “who was that?” and none of us would have any clue but Jonah would tell us that he knows them.