Rett Syndrome: A Mother’s Perspective and Advice
I will never forget the day. It was in February 2010. I was driving home after picking up my kids from school. My phone rang and it was the call I had been anxiously awaiting. The doctor was calling with my daughter’s test results.
She had been diagnosed with Rett syndrome, a rare neurological disorder that almost exclusively occurs in girls. It is caused by a genetic abnormality on the X chromosome. It leads to severe impairments in many different areas, including speech, learning, breathing, mood, and movement.
Sure, she had been having some symptoms, but I figured they were self-contained issues that weren’t related to one another. Around a year, she wouldn’t pull to stand. Her feet were collapsing inward, so she started therapy through an early intervention program. She made some progress but it was slow.
Around age two, she started to regress in some areas and lose skills. She lost purposeful movement of her hands, stopped playing with toys, and was exhibiting some odd behaviors, like staring and hysterically laughing at doors and corners. She also stopped talking and just started making noises.
We made our way to Cincinnati Children’s for further evaluation. Along with the other characteristics I mentioned above, Dr. Wiley noticed that Gabby was clapping her hands frequently. I didn’t realize it at the time, but hand wringing is a common occurrence with girls who have Rett syndrome. That is when Dr. Wiley recommended a blood test that could diagnose the condition.
Like most people, I hadn’t heard of Rett syndrome before Gabby’s diagnosis. It is not common but also not as rare as people think– it occurs in one of 10,000-15,000 girls. Receiving the diagnosis seven years ago was quite the shock for our entire family.
We’ve had a lot of ups and downs and I’ve most certainly learned a lot along the way. Looking back, Gabby has taught us so much and has given our family a new perspective on life. If you’re just starting this journey, you may find what we have learned useful:
Rett Syndrome: A Mother’s Perspective and Advice
Accept whatever feelings you’re having.
Gabby’s diagnosis hit me hard. In fact, it felt like a huge blow to the entire family. It was shocking to recognize that some of the milestones she reached – saying mama, pop and Gabba Gabba (her name) – would never come back. I wrestled with those feelings. Looking back, I think I would have been better off accepting those feelings rather than grappling with them.
Early intervention is key.
It took about two and a half years for Gabby to get diagnosed, which was about seven years ago. This was considered fairly early back then. Now that the diagnostic tools are better and more people are aware of Rett Syndrome, this timeline is more typical. I do credit Gabby’s ability to walk with her early intervention. The OT/PT team started working with her even before she was diagnosed. They were able to get her the leg braces she needed to help her feel stable and learn to walk.
Seek comprehensive, multidisciplinary care.
We feel fortunate to have a Rett Syndrome Clinic at Cincinnati Children’s so close to our home. They know so much about Rett Syndrome and are enthusiastic about working with these kiddos. A lot of testing and therapy are associated with this diagnosis. Our many appointments with the multitude of specialists she needs to see – neurology, OT/PT, speech-language pathology, nutrition therapy, cardiology, the list goes on – all happen on the same day. This is a huge advantage to us for many reasons, but especially since we have five other children’s schedules to manage! Rettsyndrome.org has a list of Rett syndrome clinics on their website.
Know that your patience will be tested.
I’m going to be completely honest, having a child with Rett syndrome has many challenging moments. I feel fortunate that Gabby falls in the higher functioning category, but my patience is still tested. She needs 24-hour care and supervision. Full assistance is needed with everyday tasks such as bathing, brushing her teeth, getting dressed, eating, toileting and taking medicine. And she doesn’t always want to cooperate with these things. This is why it’s important to accept help! (see #5)
When Gabby was first diagnosed, I didn’t want to leave her alone – I took her with me everywhere. I didn’t want to burden a family member or friend, and I also felt guilty about leaving her. My thinking was that she should be involved in anything and everything the other kids could do. It took some time to realize that much as I wanted Gabby to do everything our other kids do, she was not like them. Sometimes she wasn’t up for sitting outside in the heat to watch a game, or going to a noisy festival or party. She was happier at home. I was paying too much attention to how I felt and not how she felt. That being said, it was also important for our family to have a break and to not feel guilty about it.
Join a support group.
Having a child with Rett can be overwhelming. You may even feel lost and alone, especially in the beginning. I was so scared after we received Gabby’s diagnosis. Gabby’s and our family’s future raced through my brain. A family member gave me some great advice. Take it one day at a time. Do not focus so much on the future – this can be extremely overwhelming. Talking to other families going through a diagnosis of Rett syndrome is incredibly valuable. The International Rett Syndrome Foundation is a great place to start for support. They can get you in contact with other Rett Syndrome families.
Take part in research.
I am a big advocate for Gabby’s participation in research. The doctors and people involved in all aspects of the research are passionate about finding a cure. They are amazing people. So many things about Rett syndrome are out of my control. I can’t erase this diagnosis for Gabby. I can’t bring her speech back. When she’s in distress, I have a hard time comforting her. It’s a hard position for a parent to be in. I know that her participation in research is something we can control. I would love to see a cure in her lifetime. The possibility brings me hope (see #8). Here is a study happening on a national level.
The gene mutation for Rett syndrome, MeCP2, wasn’t discovered until 1999. Since then, doctors and researchers have made impressive strides in both the diagnosis and management of Rett Syndrome. Great progress that has been made since Rett syndrome’s discovery and it brings me so much hope. The human clinical trials and medications they are researching to reverse the symptoms of Rett Syndrome are beyond exciting!