There were more than 600 events taking place Friday in 106 countries to raise awareness about rare diseases impacting more than 300 million people all over the world.
“Rare Disease Day is a day when all the thousands of rare diseases, which individually account for a few number of patients, but collectively it’s actually a very large number come together,” said Monica Coenraads, founder and CEO of the Rett Syndrome Research Trust. “To shine a spotlight on the challenges and also the opportunities that exist in the rare disease population.”
Coenraads' 28-year-old daughter Chelsea was diagnosed at just two years old. Coenraads says one in 10,000 female births will have the genetic disorder and it doesn’t discriminate race or nationality.
“Rett Syndrome is a neurodevelopmental disorder that primarily is diagnosed in girls although it can also be diagnosed in boys,” she said. “A child is born that looks very healthy at first and has a fairly typical first year and a half and then their milestones start to plateau and actually regress.”
Coenraads founded the trust to raise awareness, help other parents and raise money for research.
“It’s not neurodegenerative,” she said, “so brain cells are not dying.
“All the cells are there in the right place,” she added, “and we know that if we can bring the levels of the protein that this gene makes back to normal, at least in animal models, the symptoms remarkably go away.”
“So we have a lot of hope, that we’ll be able to actually improve the lives of people that have Rett Syndrome.”
Coenraads said there are gene therapy trials underway and researchers are advancing a number of other genetic medicines where treatments will likely be a one time injection that could last for a lifetime while others would be ongoing treatment that need to be administered three or four times a year.
“In the best case scenario where the results are looking really good and the trials go well and everything moves, in an ideal situation, we could potentially have approvals as soon as let’s say 2028,” she said.
That’s promising news for Natasa Tilleman and her five-year-old daughter Ella who was diagnosed with Rett Syndrome in 2023.
“Ella’s has an atypical variant so it won’t follow the classic syndrome,” Tilleman said. “With her variant, she is able to acquire new skills and keep them but she can also lose those skills overnight and so right now our motto is if she can do it, continue practicing and just kind of push her and expose her to all the skills that she can do.”
Wringing her hands
When Ella was a toddler, Tilleman noticed her wringing her hands constantly and that’s one of the indicators for the syndrome. Genetic testing later confirmed the disease.
Ella can walk with assistance but is nonverbal and has sleep disturbances nightly. She’s a happy child who needs help with any basic skill like toileting, eating, dressing, which are supported by her mom and dad, Chris.
“They (Rett Syndrome kids) understand a lot, which I always find funny because I have to tell people, be careful what you talk about around Ella,” Tilleman said.
“If you’re around her long enough, it’s very evident that she knows exactly what’s going on,” she said. “She’s getting older and she’s able to babble and she does have a few words, which is great, but it can become frustrating for her now because she just has so much she wants to say, but it’s just (stuck inside her).”
Tilleman appreciates Rare Disease Day because it recognizes the challenges families and loved ones face every day.
“We can say that Ella touched many lives and we continue to learn every day,” she said. “I am being taught by her every day.
“It encourages me to learn more about not just Rett Syndrome but other different diseases that I’m just not aware of, so it’s just a day to kind of celebrate ‘the rare’.”
In order to raise more awareness, Tilleman created a friendly Instagram account for Ella (in her perspective) which follows her life living with Rett Syndrome including all the struggles and wins that can be found here: @no_rett_way
