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

Brooklyn Age 2 = year of Rett Syndrome diagnosis.

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.

For more information about Rett Syndrome  and to get connected with other families visit: www.girlpower2cure.org, www.rsrt.org, or www.armyofus.org

11 Responses

  1. Noah's Dad October 13, 2013 at 12:53 pm | | Reply

    Thanks so much for sharing our post and for your great blog.

    Your daughter is ADORABLE and sounds like she has an amazing mom! I love this! Keep up the great work!

  2. Tonya Hanna October 14, 2013 at 11:02 am | | Reply

    I agree. Doctors need to let parents know that there is hope. Sara was dx with Rett Syndrome at age two. That was nine years ago. The doctor called and told us to come by the office, they had a diagnosis and to bring whatever family and friends who wanted to learn about what to expect. They told us she had Rett, what to expect, there was no cure, no hope, no treatment, treat symptoms as they arise, she may not live to be an adult, and that we could place her in a home if we didn’t feel like we could handle her. It was horrible, but in hindsight, I realize that back then there had not been many advances in research to give hope for these kids. So for newly diagnosed kids, I hope that doctors do not throw gloom and doom at their parents. Be honest with them yes, but do share that there is hope.

  3. Brenda October 14, 2013 at 11:36 am | | Reply

    Thanks for sharing this lovely post! Your daughter is just adorable, you my dear are one Special Mom!!!!

  4. Tim October 14, 2013 at 7:31 pm | | Reply

    I spent forty years as an educator. I did my best to be an advocate for special needs children. I had never had to wrestle with Rett until our granddaughter was diagnosed. Since that terrible day I have discovered that the majority of special ed teachers and regular ed teachers do not know about Retts.
    Teacher preparation programs do not usually inform prospective teachers about Retts because the simple fact is that no one is aware of it and many other things that interfere with a child’s progress. The college faculties need to become informed. It is up to each of us to be a teacher educator for the sake of our girls.

    As for my granddaughter, -what a trooper! Everyday she teaches us something new and the skills that she is developing are incredible. Rett Syndrome is not a sentence, it is a different set of challenges to be met.

  5. David Bousson (Leah's Dad) October 14, 2013 at 11:20 pm | | Reply

    Yeah, we were given the “Don’t expect her to live very long” statement. But hey, at least it was in person. That made for a very depressing, tearful 1 1/2 hour drive home. (Luckily I held it in until I made it to the driveway… ahhhgh I can’t see! Sorry.) The apologetic phone call soon after stating that these girls actually live relatively normal-length lives helped a bit, but that was quite the awakening. We had spent the last year trying to find a diagnosis, hearing all kinds of possibilities. We had the appointment scheduled for the geneticist, but we had just moved to a new town, and while checking in to the Birth to Three program, the secretary kept coming in and looking at Leah. Turns out, her daughter had Rett Syndrome and she recognized it in Leah immediately. (But they can’t diagnose, so she couldn’t say anything.) Her new (at the time new, she still sees Leah) therapist had worked with that other girl as well, so they knew. We found out shortly after, at the geneticist appointment. They also knew right away… they just had wrong information for us. (Leah sees that doctor every year, and we make sure that she know’s what’s going on in her life.)

  6. Kelly C in Cincinnati October 15, 2013 at 8:30 am | | Reply

    Beautifully written. It pains me to think of how much your experience did hurt, does hurt. I’m so thankful that Brooklyn continues to prove those doubting doctors wrong! She sets a new hope and expectation for living with Rett and overcoming it.

  7. Rose-Marie October 15, 2013 at 12:16 pm | | Reply

    Kelly, this is so beautifully worded. You bring up important points about why doctors delivering difficult news such as this need to have solid instruction in good bedside manner! We families are already frightened and hurting…

    Yet, as you speak about the beauty and hope of our girls’ lives, you are right on target. This is true for other devastating disorders…kids who are surrounded by love and opportunity (regardless of diagnosis) are capable of fuller, richer lives than these onlooking doctors might imagine. The joy and blessing they give their families is NOT to be underrated, either! Work, sure. Discouraging moments? You bet. There are grief and sadness and plain old exhaustion. But the joy can outweigh these in spades. I’m so glad you shared what you did; it’s just lovely!

  8. 7 years May 21, 2014 at 6:25 am |
  9. Monique Grotrian October 12, 2014 at 12:46 pm | | Reply

    Thank you for this post. Our experience was horrible. You are givng me ideas of how to educate our geneticist and hopefully change future families’ experiences.

  10. 8 years ago May 21, 2015 at 5:48 am |
  11. 9 Years May 21, 2016 at 7:48 am |

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