LOCAL FAMILIES IMPACTED BY MITOCHONDRIAL DISEASE
Samuel Luyet looks like a normal five-year-old, but sometimes looks do not convey what is going on internally.
Samuel was diagnosed in April 2011 with a mitochondrial disease. According to the United Mitochondrial Disease Foundation, mitochondrial diseases result from failures within the mitochondria — the energy creating part of cells. Symptoms can include developmental delays, migraines, seizures, weakness, fainting, fatigue and respiratory problems.
With Samuel being the youngest of four children, his parents Jimmy and Charity noticed he was missing milestones as he was growing up. This eventually led to his diagnosis.
Doctors still have not been able to identify Samuel’s specific mitochondria defect, but the family is getting ready to start a mitochondrial research study at Arkansas Children’s Hospital.
Log Cabin Democrat: Before we get into mitochondrial disease, tell me about Samuel.
Jimmy Luyet: He is a very active five-year-old.
Charity Luyet: He’s very happy. He’s very social. He loves to be around people. He just started kindergarten and he absolutely loves it. Anybody who comes in contact with him, he just brings a smile to their face.
LCD: So, tell me a little bit about mitochondrial disease.
CL: It’s a very complex disease. There’s a lot about it we don’t understand.
JL: It’s how the muscles process energy.
CL: When you have mitochondrial disease, you have defects and your muscles are not getting what they need. You get tired easily. It can affect different organs in different ways.
LCD: What brought you to the point where you felt something was wrong and you went looking for answers?
CL: We knew something wasn’t right when he was about 18 months old. Our doctor referred us to Pediatrics Plus who were very concerned, and we ended up at Arkansas Children’s Hospital in neurology.
JL: He didn’t walk until 16 months and his speech was delayed. He was sick a lot.
LCD: Now that we are a couple years past his diagnosis, how has he been able to deal with the disease?
CL: He’s been receiving services from Pediatrics Plus since he was 18 months old and he’s had the same therapist throughout. They actually came into St. Joseph’s school and explained to his teacher and the principal what challenges he would be facing. It’s hard to try to tell a five year old what he can and can’t do. He’s starting to realize there are a lot of things he’s not able to do that he sees the other kids doing. He has a hard time keeping up with them physically, but he just sits down and rests.
It’s been very surprising to me how the kids in his class just watch over him. They’re very gentle with him.
JL: He takes a lot of supplements, and they seem to have helped a lot.
LCD: What do the next 10 to 15 years look like for Samuel?
CL: We’re still learning a lot with his disease. We just stay positive and try to take one day at a time.
JL: There’s just so much unknown. He may just be a child who is slow to develop physical coordination — he’ll probably never be a basketball star or a baseball player — but it could be that other than being uncoordinated he could be completely normal. His speech has already changed significantly.
LCD: What is Mitochondrial Disease Awareness Week?
CL: It is Sept. 15-21, and we are just trying to raise awareness. I knew I had to do something. We have T-shirts, I have ordered wristbands to spread awareness, I have the little identification cards that talk about how people with the disease look so normal but have things going on on the inside. We are working on a 5K race next year at this time specifically for mitochondrial disease.
LCD: If there’s one thing you want people to know about your son, what would it be?
JL: I just want people to know about the disease and that it often goes undiagnosed. If people knew about it, it might get more research.
CL: With that being said, Samuel’s kindergarten teacher read a book over the summer so she would understand. That’s what we need, people to jump up and help us right now because we don’t have support or awareness.
(Staff writer Angela Spencer can be reached by email at email@example.com or by phone at 505-1212. To comment on this and other stories in the Log Cabin, log on to www.thecabin.net. Send us your news at www.thecabin.net/submit)