Parenting during the Pandemic: An Interview with Monica Coenraads of the Rett Syndrome Research Trust

Rett syndrome is a genetic brain disorder caused by mutations in the MECP2 gene. Rett typically affects females and symptoms usually become apparent between six and eighteen months after birth. Symptoms of Rett include the inability to speak, walk, or perform repetitive movements. People with Rett also frequently experience breathing problems, seizures, gastrointestinal and orthopedic issues.

Monica Coenraads is the founder and Executive Director of the Rett Syndrome Research Trust (RSRT). She holds honorary degrees from the University of Edinburgh and the University of Massachusetts. Monica has led RSRT to awarding $66 million in research grants, with the goal of finding a cure for Rett. More importantly, Monica is Chelsea Coenraads’ mom. 

Chelsea was diagnosed with Rett at the age of two in 1998. Like many parents of children with rare diseases, Monica was, and is, driven to find a cure for her daughter and others living with Rett. 

We caught up with Monica after reading about RSRT in the New York Times. Monica sat down with us to talk about her experience parenting Chelsea, and some of the challenges presented to parents of children with rare diseases by the current pandemic:

In the beginning, when Chelsea first started exhibiting symptoms, we started going to neurologists and geneticists in search of answers. In 1998 there was not a simple blood test for Rett Syndrome like there is today. We were really going just by symptoms, how she was presenting and her history. At first, doctors didn’t think she had Rett. When I was coming to grips with the fact she had something serious, it was crushing. I remember feeling physically like my chest was being crushed. It was hard to breathe, hard to get through my day. That intense, horrific feeling, fortunately, didn’t last long. Very quickly I made a promise to my daughter that I was going to do everything I could to help her, and in so doing, hopefully help others with the same disorder.

Like many other parents of children with rare conditions, Monica experienced an uphill battle in understanding her child’s disease and what she could do about it:

Rett Syndrome, from a parenting prospective, is a challenging disorder. It affects almost every system in the body. Though not neurodegenerative, it is progressive. Symptoms can change over time and new symptoms appear without warning. Rett keeps parents on their toes: we can never get comfortable. When your child is little, a diagnosis for Rett is devastating. You bring a healthy baby home from the hospital. The first year is more or less typical. Then you start experiencing a feeling of anxiety in the pit of your stomach. You know something is not right: your child is not acting the way they were. 

Monica urges those parents just learning of their child’s diagnosis to get involved:

I speak to a lot of parents of newly diagnosed children. Many of them feel an overwhelming urgency to have everything set up as soon as possible: therapies, equipment, assistive communication devices. My advice to them is to take a deep breath and avoid putting enormous pressure on themselves. Nothing bad is going to happen if you don’t have everything perfectly organized right away. Getting involved helps to counteract the feelings of helplessness that a Rett diagnosis often inflicts. Even on those days when Chelsea is struggling, I’m doing something productive, and that helps me enormously. 

The Covid-19 pandemic has been difficult for many. Socially isolative, medically and economically worrisome, the pandemic has brought a seriousness to everyday life not normally present for most people. For those who live the strains of social isolation daily, Covid-19 was cause for some adjustment, but may not have represented the same upheaval it did in other people’s lives.

Some of those who had already experienced an isolative lifestyle are individuals with rare diseases and their families. There were adjustments for everyone; that much is certain. Unique as ever though, are the experiences and challenges of families facing rare conditions. Monica commented on her experience:

When you have a child with medical issues they’re more vulnerable. Many families are taking increased precautions. That may include not having caregivers and therapies come to the house. Many parents are handling caregiving on their own and doing therapies for their child as best as they can.

The emergence of telemedicine as a primary point of care for Chelsea during the pandemic has been, overall, a positive experience for Monica:

There are times when telemedicine is perfect. For example, medication changes can be done via telemedicine. Chelsea recently received a new stander (a mobility device) and I will be trained on how to use it via telemedicine. One silver lining from Covid is that telemedicine probably won’t go away any time soon. 

Monica also notes a renewed focus on interconnectivity in our newly socially distant world:

I think what I hear from families is some of the hustle bustle went away and families are spending more quality time together. (The pandemic) hasn’t changed all that much in how I stay connected with the Rett community. We still use social media, email and phone calls to stay in touch. Often because of a child’s issues, many fellow parents live kind of quarantined anyway. 

If anything, Covid-19 has done nothing to stop Monica and her Trust’s quest to end Rett. Said Monica, “The pandemic eventually will go away, but Rett will not until we have a curative strategy that works.”

That strategy is an impressively well thought out one. Since Rett is caused by mutations in a single gene, MECP2, because it is not neurodegenerative (meaning brain cells are not dying in patients), and because symptoms have been reversed in laboratory trials of mice, there is a possibility Rett could be cured in humans. RSRT has six strategies it is pursuing that target the root cause of Rett: gene replacement, genomic editing, RNA editing, RNA trans-splicing, reactivation of silent MECP2 genes and protein replacement therapies. 

RSRT is pursuing all of its strategies in parallel. However, of its strategies, the closest to clinical trial is gene replacement therapy. Broadly, gene replacement therapy as a treatment for Rett involves the introduction of healthy copies of the MECP2 gene to compensate for the mutated MECP2 gene in a Rett patient. To learn more about RSRT’s quest for a cure, check out their website here: https://reverserett.org/cure/.

The pandemic may have put a lot of things on pause, but it doesn’t have to stop people from helping others. To learn more about RSRT’s mission, or to donate to help end Rett, please visit https://reverserett.org/. 

Are you a parent of a child with a rare disease? We would love to hear from you!