Budding Bonus 3: Rett Syndrome

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It’s often mistaken for Autism by the untrained (i.e. non-doctor) eye. Actually, even some doctors may misdiagnose it as Autism. Others don’t even diagnose it at all. The issue is Rett Syndrome.

It’s a strange thing. Parents of baby girls (it affects girls mostly) with Rett Syndrome are often told, “We can’t find anything wrong with her. Just give her time. She’ll develop and grow at her own pace. All the tests are clear.” But a mom knows. When something feels wrong, there’s likely something wrong.

Imagine how frustrating it must be to watch your child struggle. To watch your child not reach the same milestones that her siblings reached. To know something is not right, only to have experienced doctors and tests tell you everything seems to be fine.

But there are signs. There are clues. And for some reason, they don’t always raise a red flag to doctors.

But the red flags were waving clearly in my face when I signed up to do the Run Over Rett race. It was organized by a mother I know whose daughter suffers from Rett syndrome. The mother also founded the SUKI Foundation and is a pioneer for Rett Syndrome awareness in our area.

I decided to read up on it. I felt like I discovered the disorder myself. After reading about symptom after symptom, my mind darted to my niece each time. So many symptoms were there all along and no one ever suggested she might have Rett’s. I told my sister. She thought the same thing.

In our research online (just call us google doctors), we learned a lot.

From the Mayo Clinic:

Rett syndrome is a rare genetic disorder that affects the way the brain develops. It occurs almost exclusively in girls.

Most babies with Rett syndrome seem to develop normally at first, but symptoms surface after 6 months of age. Over time, children with Rett syndrome have increasing problems with movement, coordination and communication that may affect their ability to use their hands, communicate and walk.

Although there’s no cure for Rett syndrome, potential treatments are being studied. Current Rett syndrome treatment focuses on improving movement and communication and providing care and support for affected children and their families.

My niece still hasn’t even been officially diagnosed. But, despite the devastation of it being the possible truth, there is still a slight sense of relief. At least we may finally have some answers.

Maybe this is why my sweet, precious niece hasn’t been developing properly. Or why she didn’t start crawling or walking or running when other babies do. Maybe it’s why she hasn’t spoken at the age her brothers did or potty-trained when other toddlers did.

The reality of Rett Syndrome can be overwhelming. The condition could ultimately shorten her life span. She may need assistance for much of her life.

But at least we may have finally made a breakthrough. Once my sister is able to get further testing done and get an official diagnosis (which doesn’t always come easy), then we can plan an attack. We can plan for the future. We can get help. We can accommodate.

Even without an official diagnosis, we can still educate. Things don’t always start seeming suspicious until about 6 to 18 months.

1. Slow brain/head development.

It’s the first problem I remember hearing my niece had (but at the time we didn’t think it was a serious problem). Any mom knows, those pediatric check-ups involve head measurements. Well, her head was not growing at the normal pace. But the doctors said it was nothing of concern.

2. Delayed communication

My niece wasn’t speaking when children normally start speaking. For a long time, the only audible words she could speak were “no” or “mama” and “dada.” Again, doctors insisted she would speak when the time was right.

3. Growth retardation

My neice has small hands, she’s small-framed altogether. Once again, doctors insisted, all children develop differently and my niece was just on the slower side.

There are a laundry list of other symptoms that raise red flags about my niece.

4. Abnormal hand movements

5. Unusual eye movements

6. Loss of normal movement and coordination

7. Unexplainable mood swings

8. Constipation.

There were also some symptoms my niece has not experienced and the severity of some of her symptoms lead my sister to believe her daughter may suffer from the milder, Zapella variant of Rett’s.

We’ll know more when all of the testing is complete. Until then, we’ll continue to love, nurture and encourage my niece. And we can encourage others to learn more about this disorder. Or just encourage mothers to trust their gut and keep pushing for answers when there is obviously something wrong with their little ones.

To learn more about Rett Syndrome, here are some helpful links:

Mayo Clinic identifies Rett Syndrome

International Rett Syndrome Foundation

Redefining Rett Syndrome Gene Dysfunction–this could be a big breakthrough in finding a cure or treatment.

Supporting Rett Syndrome patients and families through the SUKI Foundation

By Vanessa Culpepper


2 thoughts on “Budding Bonus 3: Rett Syndrome

    Susie said:
    November 8, 2013 at 2:24 am

    My heart breaks for that precious, sweet little girl! I hope your family finds answers soon. I’ll definitely be sending positive vibes their way. And thanks for the knowledge and awareness you’re providing because some people would never know. I had no idea something like this even existed!


      Budding Fashionista responded:
      November 8, 2013 at 5:52 am

      Thanks, Susie!
      The one positive thing about this is that we don’t think it’s a severe case. She still has full mobility and is capable of using her hands effectively. Her speech could still use improvement, but she can still communicate effectively as well. So, we are hopeful! Thank you for reading!!


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