Our Rett Syndrome Journey with Erin

Our Rett Syndrome Journey with Erin

by Kim Steenkamp

Erin+4generations Erin in the arms of her great grandmother

We received Erin’s medical diagnosis of Rett Syndrome on the 6th June 2011, however that is not where our journey started, it actually began with the understanding, growth and relief of knowing what we had to deal with.

It was obviously not the syndrome we wanted. We had already been told about it; actually we did not want any syndrome or  delay.  We were devastated, angry and very sad when we were told our baby was confirmed with Rett Syndrome. We just wanted our precious daughter to be like all other children.

However, it was not for us to decide nor was it in our planned path to have a syndrome free child.  We were blessed with 2 beautiful children one with Rett Syndrome and one normal, that’s what our design on life shall be.  It is how we choose to walk our path with our family that counts.

My first alert was when Erin was round 2 and half, she was not really communicating well.  She had a few words, mom, dad, ta, etc.…. what puzzled us was she was spot on all her other milestones.

We at first thought she was just having speech delay as everyone knew what she wanted and her big brother never stopped talking for both himself and for her.

She also started to withdraw into herself. We decided perhaps we should see an occupational therapist, maybe they could show us what to do, or send us to a speech therapist.  It was round March 2010 that we went to see the occupational therapist.

In June 2010 we were advised by our occupational therapist to see a pediatric neurologist as Erin seemed to be regressing, she would forget things and then take a while to relearn again.  The OT mentioned it could be Rett Syndrome.

We hoped it was not, as it is a horrible syndrome and we were told that most girls only live till about 10 or 15years of age.  Of course, we know now that it is untrue, lots of the girls live up to 40 and beyond.  Yes there are girls who pass away at an early age but that is due to other complicating factors, not just because they have Retts.

January 2011 we met our pediatric neurologist.  On her 1st assessment of Erin she felt that Erin did not have Retts Syndrome as she was not showing any of the classic signs, hand-wringing; breathing irregularities;  seizures; small head; and low muscle tone.

She did confirm that there was a global developmental delay and that only time and tests would tell.  At this point all Erin’s tests had come back with no problems at all. EEG was perfect, as well as her MRI and all her blood work.

March 2011- Erin had her first seizure and along with that her breathing suddenly changed and she started with the hand wringing!!!!  I often wonder what it was that set her off so suddenly.

We went immediately to our local pediatrician because of the seizures. He took one look at her and said that he believed she had Rett Syndrome, due to the hand-wringing.  He tested her immediately for a mutation on the  MeCP2 gene.

It was the longest 3 months of our lives waiting for those results!!

June 2011 we got our phone call confirming a positive test for Rett Syndrome, mutation type T158M.

I guess I should mention at this point, that I used to answer a certain simple question with ease……If you knew you were pregnant with a syndrome child would you bring it into the world?  My answer used to be a flat NO!

Why would I want to bring a child into the world that could not help him or herself?  Life would be so unfair, or so I thought…. little did I know that growing in my tummy was a beautiful daughter with a slightly altered genetic disorder?  I was to be blessed.

I have learned so much –  to fight; to give more than I have; to help; to teach; to appreciate so much more than what life actually is about; the list is endless.  I can tell you it’s not an easy road, as those who have already been on the Rett Syndrome road will tell all new families.

When I first started looking for information and support with regard to Rett Syndrome, there was nothing available in South Africa.  Internationally of course there was a reasonable amount, though not as much as I would have liked. Today you can find new pages and new research on a regular basis.

I thank everyone for all their help. The help and support that Rett Syndrome parents give each other, no matter where in the world they each might be, is truly amazing.

It is essential to have support groups of people who understand what you going through whenever  you reach the greatest or smallest of achievements, as well when things go horribly wrong and you can’t find an answer. They help you understand, find the answer, cry with you and send you hugs and love because you did a job well.

I have traveled with Rett Syndrome now for a year.   It’s been quite a shock to my system  and damn scary!!!  Every time Erin had a seizure and there have been plenty,  my heart felt like it could not cope.

I remember recording every seizure, writing down the times and how long each one lasted. Believe it or not, I even recorded the weather as well.  Whatever Erin ate was also carefully recorded.  I asked myself question after question trying to figure out her  seizure trigger.

The minute a seizure would appear I would hold her tight and try to talk her through it.  I wondered if it was painful.  I’d want to shout and scream at someone to take it away –  to stop hurting her!  Don’t take my baby please just don’t take her.

We now know what Erin trigger is. It was a simply her health and pain.  The minute she got sick or was in pain she would start her seizures.  It’s at this point you start doing an elimination process before running to the doc.

Her seizures are her way of telling us something big is wrong.  “Help me mom”.

Her erratic breathing is a big part of her syndrome.  She really does have most of the Rett Syndrome breathing irregularities, specifically hyperventilation, and breath holding.  I used to worry if I could not hear her hyperventilating around the house.  I watch her hold her breath and think  – ok breathe baby, breathe. I even tried to show her how to breathe.

I know she will start breathing again, but watching your child turn blue sets your system into an overdrive of  panic.  Now it’s easy to deal with, I just pay attention to the period of time that she stops breathing and make sure she does not fall over and hurt herself.

Erin did regress, but not the way I was originally told she would.  I was under the impression that she would lose all and any of the abilities she had.  In other words, I thought she would just deteriorate  and die.

As a symptom would appear, we would deal with it medically and hope and pray.  We, my husband and I and my immediate family (my Mom and Dad and my brothers) decided we were not going to let her go like this.

We started to attend every therapy we could think of, until we found the ones that worked well for her and us.  Our favorites have been Hippo therapy; Swimming; Cranial-Sacral therapy and chiropractic.  These have been wonderful for keeping her body strong  and the rectifying of Scoliosis as the signs appeared.

We would love for her to attend Occupational Therapy, and have also been looking for an alternative communication speech therapist and it seems we may finally have found the right person.  One of Erin’s best “therapies” has been her amazing school.  She has really started to shine. Her happiness blazes out of her.

It has also not  been possible for Erin to undergo all the therapies she needs due to lack of funds, but we work on it every month.  Thanks go to my family.

The biggest impact when it comes to improvement has been because of the change of her diet!!!
Watching Erin change before my eyes from a little girl who was “not present” to a little girl who is super aware of her surroundings, was almost unbelievable.  Her weight has been increasing to that of a normal “healthy” child.

Her doctor has given her an amazing report to date.  Erin has been described as a healthy non-verbal and very busy child, with few or lessened symptoms of Rett Syndrome. She sleeps super well too and she has great muscle tone.

In fact I have been asked once or twice of she really does have Rett Syndrome.  Had it not been for her blood work; her ataxic gait; the occasional hands wringing; and her loss of speech, we would all say no.

My greatest advice is always trust your gut and never say no improvement can’t happen, our girls show you that it can happen.  Always remain open within yourself!!!!

Every day will be a journey – during the journey you will find new roads, some will be rough, some will be beautiful. You will learn to live and love like no other.


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