how i care for rett syndrome: 'i'm not giving up' on my daughter
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because of how debilitating rett syndrome is, monica, left, has dedicated her life to ensuring that her daughter, chelsea, is as comfortable and well taken care of as possible, even with a chronic disease.
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monica coenraads, founder and chief executive officer of the rett syndrome research trust, has spent the better part of her life working to find new ways to test, treat, and care for people with rett syndrome.
focusing her entire career on rett syndrome wasn’t her initial goal in life, but when her daughter, chelsea, was diagnosed at the age of two, she put all her energy into rett syndrome, caring for her daughter, and trying to make real change for anyone else who had a child with the debilitating disease.
before the diagnosis came, monica was a new mother, basking in the joy of having a perfect baby to care for. then the symptoms started. they were subtle, with chelsea showing signs of delayed development compared to children her age – developmental milestones she learned about from other moms in a virtual online meeting group.
“those moms were talking about the progress their kids were making, and they’re walking, and they’re this, and they’re that. my daughter wasn’t doing any of it,” she said. “i was, as you might imagine, really, really scared and concerned.”
it wasn’t until a mom in her group emailed her with the details of rett syndrome after having met a neighbour who had a child with the condition that she started to put the pieces together – a moment monica recalls as “serendipity.”
“one of them (the moms) emailed me and said, ‘you know, one my neighbours had a child with rett syndrome. look up the symptoms.’ and i looked it up, and i was like, ‘oh my gosh.’ like every single one of them, i was checking that box, yep, she does that, yep, she does that.”
after she started to put two and two together, monica took chelsea to the doctor. at the time, little was known about rett syndrome, and the doctor she spoke to almost brushed her off as it was such a rare disease. but monica knew in her gut that something was wrong, and she wasn’t going to stop until she got her diagnosis.
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“it dawned on me that whatever she had, it was going to be serious,” she said. “even then, i didn’t realize how serious. but i knew it was going to be serious.”
they ended up doing all the proper testing, and it was confirmed. chelsea had rett syndrome, and life would never be the same for the coenraads.
arming herself with knowledge about rett syndrome and navigating the healthcare system
monica didn’t know much about rett syndrome before chelsea was diagnosed, but that didn’t last long. she spent as much time as she could learning about how it would affect her daughter, what would need to be done to care for her properly, and how it would irrevocably change the trajectory of chelsea’s life.
she began meeting with other medical professionals and specialists around her home in trumbull, connecticut, to determine what could be done after receiving the formal diagnosis. unfortunately, medical intervention is limited regarding rett syndrome.
“it’s getting access to therapies as much as possible and then trying to figure out once the child is school age or preschool age, to try to get them into a program that will support them as much as possible,” she said.
children with rett syndrome will experience a wide range of issues affecting many organ systems in the body, even though it is considered neurological and developmental in nature. among the specialists on a rett healthcare team are gastroenterologists, neurologists, orthopedists, and pulmonologists.
for chelsea, her care team required several specialists, with a neurologist being one of the first on the docket.
“she started having seizures at five. so, then you need to have a good neurologist that works with you and tries to figure out medications that work,” she said.
but even with the best medical care, living with rett syndrome isn’t easy, and the brightest of medical minds can’t always make positive changes.
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“we’ve actually never been able to get her seizures under control,” monica said.
chelsea also experienced issues with her respiratory system, so she had a pulmonologist on her care team as well, among others.
coping with the loss of what chelsea’s life could have been
for the first few weeks after chelsea’s diagnosis, monica was, in her own words, “a mess.” she ruminated over all the things chelsea would miss out on in life because of her diagnosis, such as being independent, getting married, going to college, and every other milestone parents hope to watch their children get to experience.
she also contended with the fear of knowing that chelsea was going to have a tough road ahead, both physically and mentally, because of her condition. today, chelsea is in a wheelchair, can’t use her hands, eats through a feeding tube, continues to have seizures, and experiences other problems that affect her gastrointestinal system, her feet, and her mind.
“she’s unable to have any purposeful movement. she cannot roll over, and then she cannot pull the covers up if she’s cold or, you know, kick them off if she’s hot,” monica said. “she’s really trapped in her own body.
because of how debilitating rett syndrome is, monica has dedicated her life to ensuring that her daughter is as comfortable and well taken care of as possible, even with a chronic disease.
“i don’t spend a lot of time feeling sorry for me or for chelsea,” she said. “those moments where i’m like, ‘god, life is really hard right now.’ i think about what must it be like to have a daughter like mine and live in afghanistan, north korea, gaza right now, ukraine, and have to leave. i think about that all the time.”
she continued, “or, you know, some parts of south america, africa. those people have it hard, and, yeah, my daughter has a lot of challenges. her life is hard, and she has suffered a lot. but she has everything she needs, and she has love in her life from the moment she wakes up to the minute she goes to bed. that brings me some solace.”
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turning pain into a positive for others
remembering that her situation could be much worse isn’t the only thing that’s kept monica steady for all these years.
shortly after chelsea was diagnosed with rett syndrome, she founded the rett syndrome research foundation (rsrf), serving as its scientific director, to engage in an in-depth study of the disease and potentially find new ways to test or treat it for others who are going through the same thing.
during the following eight years, the research broke new ground on rett syndrome symptoms. in 2007, the foundation “demonstrated the first global reversal of symptoms in preclinical models.”
after making a groundbreaking milestone in rett research, she founded the rett syndrome research trust to pull focus to genetic medicines and everything else needed to advance the understanding of the disease and how to treat it.
“we’re pursuing every approach possible to boost levels of the protein that is made by the gene that is mutated,” she said.
the gene mutation that causes rett syndrome drives a lack of production of a particular protein that plays a role in neurological function, and their work is designed to figure out ways to boost the production of that protein. she did all of this for her daughter, chelsea, but it’s helped her, too.
“it’s helped me to have a purpose and to be involved and to know what’s going on. it has been very therapeutic for me,” she said. “i’m not one that needs support groups. my work with the rett syndrome research trust is incredibly rewarding, and i’m just incredibly busy.”
monica acknowledges that everybody copes differently. her work in the rett syndrome space was how she chose to deal with the diagnosis her daughter received, and it has worked for her.
“knowing that i’m doing everything i can to advance the research is therapeutic for me and hopefully helpful for my daughter and all the other people that are struggling with rett.”
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making a promise and sticking to it
when monica set out to change the world of rett syndrome, she did so with her daughter in mind. she has had moments like any other parent would, wondering, “why me? why her? why us?” but those feelings didn’t stay long, as she went from questioning her situation to figuring out, “what are we going to do about it?”
and so off monica went, using her knowledge, personal experience, and sheer will to create new organizations geared toward rett syndrome, in what many big pharmaceutical companies see as, in her words, “low-hanging fruit.”
over the last 25 years, helping others has been her saving grace, but it all started with one simple promise from a mother to her daughter.
“i made her a promise that i wasn’t going to give up on her, and i was going to do what i could to find a cure, and 25 years later, i kept that promise. we don’t have it here yet, but i’ve kept my promise, and i’m not giving up.”
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