Madi Ramirez is a remarkably happy teenager with two rare, challenging diseases.
The feisty, determined LeClaire girl — now a junior at Pleasant Valley High School — was born with both spinal muscular atrophy (SMA) and 15q duplication, meaning her 15th chromosome was duplicated, causing epilepsy, and she has autism and learning disabilities.
15q duplication syndrome is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder, and epilepsy including infantile spasms, according to the National Library of Medicine.
“It’s crazy she has two rare diagnoses,” Madi’s mom, Megan Ramirez (who teaches at Moline’s Roosevelt Elementary School, said Tuesday. Only 1 in every 6,000 to 10,000 people are born with SMA, and a total of 10,000 to 25,000 children and adults are affected by the disorder in the U.S., according to the SMA Foundation.
SMA is caused by a mutation in the survival motor neuron gene 1. In a healthy person, this gene produces a protein critical to the function of the nerves that control our muscles, according to the national group Cure SMA. Those with SMA don’t produce survival motor neuron protein at high enough levels. Without this protein, those nerve cells can’t properly function and eventually die, leading to debilitating and sometimes fatal muscle weakness.
SMA has been added this year to newborn screenings, Megan said. Madi was 2 ½ when she was diagnosed.
“She wasn’t meeting any of her milestones – she wasn’t walking, she wasn’t crawling,” her mom recalled. “They originally diagnosed her with cerebral palsy and I went looking for other answers. She had a lot of tremors.”
She was diagnosed with SMA at Shriners Hospital in Chicago, and then started to go to neurologists in Iowa City. Madi had to be accepted as a patient at Shriners, Megan said.
Iowa started screening all newborns for SMA in September 2021, an important milestone for people in Iowa since early diagnosis can help with earlier treatment, and given the progressive nature of SMA, earlier treatment may mean less progression of the disease, she said.
Improving with treatment
Megan works a lot in advocacy, as Iowa representative for the national organization Cure SMA. They have monthly chapter meetings. She’s one of four Iowa board members for Cure SMA. There’s not a local support group, though there are other QC families (4 or 5) impacted by SMA.
Madi has had a service dog (Nora, a Chocolate Lab) at school since 4th grade, who can open handicapped doors and touch elevator buttons. She can take off Madi’s socks and shoes.
“For her, it’s been very good. She started a new medication called Evrysdi,” Megan said. “Evrysdi has continued to stop the progression of her disease, but also made her a little stronger. She’s doing things like transferring herself to the toilet, to chairs, things like that.”
Her recent health has been very good. Madi had epileptic seizures starting at age 11, for about three years daily (8-10 times), but she hasn’t had any in two years, her mom said.
Madi said she wants to do gymnastics, to be able to do tricks.
“Madi really doesn’t have any idea of the things she can’t do. She thinks she can do everything,” Megan said.
She said she likes school to be with friends. She started working at PV’s coffee shop this past spring, two days a week before school, and it hasn’t started yet this year.
Madi also wants to work at Red Apple day care, near the school. She gets out of her wheelchair the minute she gets home, Megan said.
“Overall, they say she’s doing great,” she said of Madi’s doctors. “I fear it’s such a new drug that it’s going to plateau somewhere; is it gonna stop working? You just keep hoping every day it’s gonna keep working and something new is going to come along.”
SMA medication now for all
Evrysdi’s label expanded in late May when the U.S. Food and Drug Administration (FDA) approved it for babies under two months old with spinal muscular atrophy (SMA).
The approval is based on interim efficacy and safety data from the RAINBOWFISH study in newborns, which showed that the majority of pre-symptomatic babies treated with Evrysdi achieved key milestones such as sitting and standing with half walking after 12 months of treatment.
Evrysdi is now approved to treat SMA in children and adults of all ages.
“The approval of Evrysdi for pre-symptomatic babies is particularly important, as early treatment of SMA, before symptoms start to arise, can help babies to achieve motor milestones,” said Richard Finkel, M.D., RAINBOWFISH principal investigator and director of the Experimental Neuroscience Program at St. Jude Children’s Research Hospital. “With the inclusion of SMA in newborn screening programs, this approval provides the opportunity to start treating at home with Evrysdi soon after the diagnosis is confirmed.”
Megan said Madi began treatment in January 2021, after her first medication for SMA (starting in 2017) was an injection in her back every four months (in Iowa City, over three years). Madi had lost her ability to walk and crawl before that.
Slowly, she gained the ability to crawl and feed herself, Megan said. Switching to Evrysdi is much easier – she takes the liquid medication daily at home.
“She doesn’t mind it and we’ve seen more progress in her muscle strength than we did with the previous treatment,” Megan said.
It’s important for it to be available to kids of all ages, to start treatment at the earliest possible age, she noted.
Madi is also on three medications daily for seizures. “In the last two years, knock on wood, we haven’t had any,” Megan said.
“She doesn’t even remember her 4th and 5th grade years, it’s so sad,” she said. “Her seizures were so bad during those two years.”
Importance of conferences
The Ramirez family again went to the national Cure SMA conference this June at Disneyland in California, which is attended by people from around the world. It often is at Disney in Florida or California, Megan said.
“They have breakout sessions all four days – like how to work on breathing with SMA kids; what kind of equipment you use; how to work with individualized education plans,” she said. “You have events in the evening, dinner with the characters.”
They’ve gone every year they’ve had it, since 2008. The first one was very scary, since there was no treatment then, Megan said. “We saw kids laid out in beds. We were scared, is that gonna be Madi? That was in Boston that year.”
There usually is a huge kids area, with 100 volunteers who play games with the kids all day, and have magic and science acts, and video games.
“It is so amazing, the fact that we have gone every year,” Megan said. “We as parents can just drop them off in this room. Because she’s developmentally delayed, it’s nice to bring her there and the volunteers can take care of them while we’re in breakout sessions.”
Madi loves being around the kids at the conferences and has made good friends.
“We’ve made very close friends, ‘cause you make friends with parents of other SMA kids as well, and you can commiserate and celebrate at the same time,” Megan said.
The Ramirez family has two older daughters who volunteer in the kids room – Morgan, 20, and Molly, 17.
Megan also met SMA researchers at their conference right before the family conference. Then the first night, the researchers race the SMA kids in wheelchairs.
“It’s really personal and neat that we get to meet what I call famous people, that have found treatments,” Megan said.
Connecting with families
The top benefit of the conference is connecting with other families and kids, she said. There was another QC family at this year’s California event, the Beard family, whose girl Aurora has SMA.
“Number two is hearing all the latest research,” Megan said, noting they got chills hearing from a well-known pulmonologist who said this was the first year they didn’t hear swooshes from oxygen machines of SMA kids.
“Because of the new treatments, there’s not very many kids that have that,” she said. “That was really amazing. That was happy tears.”
Before, many kids had to be on oxygen to help them breathe and tubes to help them swallow, Megan said. Madi never had those issues, being Type 3 SMA (Type 1 being the weakest).
She was diagnosed as Type 2 and predicted she would never walk. Madi works on a machine at school which has her upright and simulating walking. “It takes the weight off her so she can walk,” Megan said, noting the school got it last year.
She’s in special ed classes at PV, and has a new class that teaches independent living skills.
“Living independently is a question for us – I don’t know if it will ever happen,” Megan said. Madi really likes the Amelia Bedelia chapter books.
“In the books, Amelia takes everything literally and so does Madi, so it’s kind of funny,” she said.
Megan has raised $100,000 over five years at spring SMA fundraisers, and they haven’t had them since COVID. She’s hoping to do a walk in the spring.
The money goes to the national organization, Megan said. She wants to earmark funds in the next one for families who can’t afford to go to the conference. Per person, it averages $2,000 to $3,000.
As a state rep for Cure SMA, Megan usually gets her lodgings paid for. The other three live in the Des Moines area.
The family recently got an eight-month-old puppy, Millie, and she gets along well with Nora at home.
When Nora puts the service vest on, “she’s a different dog,” Megan said. “She goes to Madi’s side and looks up at her. At home, she gets to be a dog.” The family also employs a young female caretaker for Madi.
For more information on Cure SMA, click HERE.