How to tell a family their daughter has a Rett Syndrome diagnosis: A message to all doctors and genetic counselors

Brooklyn Age 2
Brooklyn Age 2 = year of Rett Syndrome diagnosis.

It is Down Syndrome Awareness month and I read a brilliant post about “How to Deliver A Down Syndrome Diagnosis the right way”  – which, by the way, I encourage everyone to read.

However, this got me thinking … maybe a letter also needs to be written on “How to tell a family that their daughter has Rett Syndrome” or at the very least – how NOT to tell a family. In MOST Down Syndrome diagnosis’, the news comes immediately at birth or shorty after, mainly because there are physical features that allow a diagnosis to be made, or at least a concern for a diagnosis – heck – some families even get the diagnosis BEFORE birth if special tests are performed. (Even though that was not my diagnosis experience for my son.) However, for Rett Syndrome things are very different.

For most families, our girls have an uneventful birth. No concerns, a tiny little bundle of miracles just waiting to tackle life.

We watch as our beauties begin to sit up, to crawl, to feed themselves, talk, the usual. Now, don’t get me wrong, some of our girls are slower to meet these milestones and some do not develop language or walk on their own. But NONE of our girls are given the diagnosis at birth as with Down Syndrome.

As we watch our girls grow and become these beautiful toddlers, something happens…..milestones stop being met on time…..then…..it is as if time starts to move in reverse.

We watch as our girls start to stumble as they walk, many of them continue to stumble and fall until they just can’t get their feet to take that next step. We watch as our girls go from stuffing their faces with cheerios or spaghetti to just looking at the food on their trays….unable to get their hands to their mouths. We go from hearing things like “mom mom mom, doggie, book, eat”…to silence or even worse, screams……and it is heart breaking.

We know something is wrong, but Rett Syndrome is so rare we often stump doctor after doctor after doctor. If we DO get a diagnosis it is often wrong – we hear Cerebral Palsy, Autism, Angelman, and a few others. Our girls endure test after test. But then, sometimes – we get in front of the right doctor that suspects Rett Syndrome. And hear things like “We are running tests for ALL genetic disorders, Rett Syndrome would be the WORST POSSIBLE CASE” or “We suspect Rett Syndrome but do not look it up online, it is bad, very bad.”

So the blood tests are run and we wait. 2 weeks, 4 weeks, 6 weeks – sometimes longer.

Then often times – the news is delivered via a phone call (which was my personal experience) or better yet, a letter. There are SOME  doctors that prefer to have the family into the office, which you would think would be the best way to receive the news, only to have them use SUPER encouraging words like this:

*We are sorry. Turns out it WAS the worse case scenario, the test is positive for Rett Syndrome.

*There is nothing you can do really, just take her home and keep her happy.

or the absolute WORSE: *You need to start making arrangements for her funeral, let us know if we can help. <yes, a mother actually had a doctor say this to her>

WHAT?!?

Are you kidding me? Start planning her funeral? There is NOTHING you can do? Hey doc – we are terrified here. We anxiously and fearfully to go into our little girl’s room each morning because we do not know what skill she is going to lose next. We endure scream filled, teary filled nights (and sometimes those tears are coming from our daughter and sometimes they are coming from me) We have been waiting weeks for some answers and THIS is what you can tell us about Rett?!?

Fast forward six years….

My daughter is 8 years old. Yes, she is in a wheelchair and has a feeding tube and battles seizures BUT she is also in the third grade with her typical peers, she is reading, doing math, learning about science and history. She goes horseback riding every Monday night. She loves to shop and go to movies. And can I mention that she is popular?  I mean it – she has friends that love her and genuinely enjoy spending time with my cool little girl. I was recently at a wedding reception and spent about  20 minutes with my daughter – because she was having too much fun with her friends to hang with mom….and  I loved every minute I was being ignored.  Oh, and She just received a Tobii – which is a computer that she will be able to control with her eyes. Yep….our days of silence are coming to an end and I can’t wait! Watch out world – she has so much to say.

Why cant doctors share that?

I tell myself that it is because they do not know. So as a parent, I try to share my story with other parents (and anyone else that will listen) and I hope that in the very near future all doctors will know about Rett Syndrome and about how smart our girls are. How amazing our girls are. How incredibly cool our girls are. And you know what? Treatments (and our cure) are coming. There is HOPE for each and every girl who is receiving a Rett Syndrome diagnosis right now.

Is it devastating news to hear? Yes! Do I hate Rett Syndrome? Yes – with every fiber of my being.  But it doesn’t end there. My hope is that no family ever allows a doctor to make them feel that way.

This post originally appeared on Kelly’s blog at specialmommyx2.com

How to tell a family their daughter has a Rett Syndrome diagnosis: A message to all doctors and genetic counselors

Regression

I just wanted to have a quick convo here because in the last few days I’ve had 2 Moms who’ve been told that their child is regressing again.

We have no way to scientifically measure regression, or even say someone is definitely in regression. It is an observational diagnosis. Which means it can be wrong. The very last thing in a long list of possibilities is regression.

If your child is feeling poor, or in an anxious period, if they are feeling under pressure, they might just chill at the baseline. What I mean by chilling at the baseline, is she just doesn’t want the performance pressure of doing anything. Too much hard work, taking a time out.

This is not something that is solely applicable to Rett syndrome, every person in the world goes through these periods.

When someone chills at the baseline for an extended period, their learned skills can be temporarily lost. That is also natural, it is called “learned non use”, essentially it means she might have to relearn some of the skills, but because of something called “motor memory”, it’s much, much easier.

Think of learning to walk like it’s a pathway.

The more you use it, the more worn that pathway becomes, the easier it becomes. Eventually over time, you have memorised every bit of that path. Then the snows come, the path gets covered, a long time passes before you go back to the path again.

The path still exists, but it’s now overgrown with bushes and underbrush, but you still remember where you are going. For the first few times, that path is hard work again, but before long it is battered back into shape.

The natural History Study run by Rettsyndrome.org has proven that people with Rett syndrome NEVER STOP LEARNING NEW SKILLS. (sorry I feel like I have to bold that)

My message is simple.

I feel Rett syndrome is so full of easy excuses for people responsible for diagnosis.

Rett is a blanket of symptoms for people, even when the symptoms that are being exhibited are clearly not Rett related.

How many times have you heard Rett blamed for everything?

Which means we, as a family, need to be sure to go through all the possibilities we can first.

Much love to you Mums going through this s**t, again. Let’s beat down that path and prove them wrong 😉

Let me just add there are some fantastic Doctors/Health Professionals out there that are adored by the Rett community. They are adored because they don’t blame Rett for everything.


*update

I’m happy to say Lucie is walking again, this not only shows the indomitable spirit of Lucie, but it also shows that we cannot just tuck a diagnosis in the Regression blanket and expect it to be enough.

People living with Rett syndrome are fighters, they are born fighting.

Believe in them, fight with them, be their army of constant encouragement.

Regression