AURORA — Recently, NBC correspondent Richard Engel announced his son has a form of Rett Syndrome. It was a shock to everyone especially considering Rett primarily affects girls.
I found out Colorado is lucky to have a state-of-the-art Rett Clinic at Children's Hospital that helps patients from all over the Rocky Mountain Region.
I also learned about drugs and therapies that are in the works and exactly what this type of diagnosis means for the children and their families. One family was kind enough to give us a glimpse into what it takes to care for their child every day.
Brooke Allen was born healthy, she was hitting all the milestones, but at 9 months old something changed.
“We started to notice some problems. She wasn't hitting milestones that she should’ve been hitting. She wasn't crawling, she wasn't walking, she couldn't sit up,” said Justin Allen, Brooke’s Father. “On December 4, 2015 we got the call … and they told us she had been diagnosed with Rett syndrome.”
It was a disorder they hadn’t ever heard of, and now it’s their whole life.
Brooke is now 4 and watches her two younger siblings play, eat and walk on their own. All things she can see but can't do.
Dr. Tim Benke is the Rett Clinic director. He is a huge part of getting the Rett Clinic at Children’s Hospital to where it is today.
The clinic allows families to come to one place and see all the doctors they need all in one day, every year.
“If I could be so bold to say, this is the best Rett clinic in the country because we're the only one that provides the type of care that you get— very clinically focused very patients and family focused,” said Dr. Benke.
And it's needed because it's a complicated disease. Brooke doesn't talk, she doesn't even crawl. She gets sick with ear infections and colds more often. She’s already started to have seizure-like episodes and many Rett patients develop Scoliosis. All reasons why so many specialists are involved in Brooke's care.
Rett Syndrome is a genetic disorder but as Dr. Benke says, it doesn’t mean that mom or dad passed it on.
“The cause for it resides in a certain gene and that gene lives on the X chromosome which is what controls sex and what we think happens is that around the time of conception either right before or right after a little spelling mistake gets made in the certain gene called MecP2,” said Dr. Benke.
Clinical trials exist and, drugs and therapies are in the works but right now all they can do is wait.
“For Rett syndrome you have to get it just right. It’s kind of a Goldilocks thing- not too little, not too much. You have to get it just right because we know that if you don’t have enough MecP2 you get classic Rett syndrome. If you have too much - there’s something called Duplication Syndrome and you get something completely different but it’s also very terrible, so you have to try to find the right dose of gene therapy to get it just right,” said Dr. Benke.
“If we don't find a cure, I would say for the most part I don't know if she will ever walk. She requires 24/7 care and she can't feed herself, she can't control her arms but she's in there. You can talk to her and tell her stories and she'll laugh when they're funny,” said Brooke's dad.
She's in there and has the same desires of any 4-year-old girl.
“They're not going to say anything to you but you get these great eye conversations with them and you really know and you realize that there is something there and you got to get it out and you got to find a cure and that's what we are trying to do and be a part of,” said Dr. Benke.
Brooke's younger brother and sister don't have Rett Syndrome. Rett occurs in 1 in every 10,000 to 20,000 births in girls, which equates to 6 or 7 new cases per year in Colorado. With boys, it's so rare they can't put a number on it. It just hasn't been researched enough.
The Rett Clinic is possible in part because of The Rocky Mountain Rett Association. The group helps raise money and awareness for the Rett Clinic so families can get the care they need every year all at one time.
They have two fundraising events coming up. You can find more details on their web site.
