Grace for Rett » Grace's Life with Rett Syndrome


Amy (left) and Isi (right). Tell me that Amy doesn't look just like Grace! Especially her hands that's exactly how Grace holds hers.

So I’ve said before that Grace’s particular mutation is r168x. It’s the second most common type of the 12 types of Rett Syndrome (I think there are 12). But it’s the first most debilitating as far as I’ve gathered. It’s the one where Rett parents in the know will say “ooh that’s the bad one”. The x-mutations are the ‘bad ones’, although the geneticist told me that it’s not one of the ones the most commonly associated with sudden, unexplained death. So tell me then…if there’s a type that’s associate with sudden death and this one isn’t it, how is r168x the ‘bad one’? Seems to me the one that could kill my daughter out from under me is the truly bad one.

I do understand that by ‘bad’ people mean that it’s the most debilitating. Grace’s friend Amy had a post this week with a photo of another little girl with r168x on her blog and her mom was saying how she could see such extreme similarities between the two of them that it was like looking forward in time. But that’s how I feel about Amy! It’s like looking at Grace in a couple of years.

Clearly, the girls with r168x (I don’t know about the other mutations at all) are in a group of their own with striking and undeniable similarities. Sadly, one of those is that is doesn’t seem that they don’t seem to learn to sit or stand or walk. But they sure as heck do laugh and live and love and that’s going to have to be enough for me.

P.S. If your daughter has r168x, please comment below and tell us about her (including her age). I’m sure all of us r168x-ers would love to connect and know what may be ahead and the ways in which our daughters are the same and different.

Dawn - May 15, 2011 - 1:10 pm

My daughter, Reagan, is 3 years old (b-day is 2/24) and has mutation r168x. Honestly, I have never really understood what that means and how it affects Reagan. I have met at least 2 other Moms whose daughters’ have the same mutation and they both reminded me of Reagan, especially little Abby. Reagan started walking at 15 months and continues to walk. She has gotten steadier with time but does not do well walking in areas that she is not familiar with (like in public places). She had about 5 words that she was saying up until 13 months when she lost all words. She completely lost the ability to communicate around 26 months (not even making noises that resemble words anymore). She lost all ability to self-feed and use her hands around 26 months also. She does not have seizures, yet, and is a CONSTANT hand mouther so we use arm splints most of the day. She seems to be no longer in the regression stage and I see a lot of her sweet and loving personality returning. For the past year she was more irritable and frustrated.

Catriona - May 15, 2011 - 3:39 pm

One of the tricky things about Rett is how un-cut-and-dried so many things are. So girls with the same mutation seem to vary a lot in what they are able to do. I know of girls with r168x who are on their feet (like Dawn’s daughter Reagan), and others – like Grace and Amy – who are super-floppy and can’t even sit up without a lot of support. There are one or two interesting studies that look at correlations between mutations and how ‘functional’ girls are – but the conclusions are pretty inconclusive!

It’s one of my big preoccupations, trying to work out how much we can expect Amy to achieve physically through therapy – or whether we’d be better to put our efforts into helping her with communication, for example. No easy answers.

Dawn - May 16, 2011 - 1:14 am

You are so right, Catriona! I am having the same difficulties knowing where to focus our therapy for Reagan. Do we continue to drive home physical therapy so that she does not lose that ability as she becomes taller and more unstable or do I shift my focus to communication so that my daughter can finally have a voice. If only time was not a factor and I could focus all of my time on all of the therapy that she needs!

Laura - May 20, 2011 - 6:26 pm

Hi! I’ve never written in but have checked out your blog from time to time and love the photos and the writing. I have a 3-year-old daughter with the r168x mutation as well, and I’ve often marveled at how she and your Grace look alike. Sounds like they have similar abilities, too.

When we first got Violet’s diagnosis, my husband, after learning there were a lot of variations among Rett girls, hopefully turned to the computer to see if maybe we were one of the “lucky” families who got a not-so-bad mutation. He was so angry and dejected when we finished the research, convinced our girl had gotten a crappy version of pretty horrific disorder.

Since then, and after meeting a lot of Rett families, I feel like most of that research is pretty useless. There are a lot of variations, even among the same mutation. Our V is pretty floppy, too, and doesn’t crawl or walk or sit up on her own. But she can self-feed a bit and bang at a switch or toy, although she doesn’t have much other functional hand use. She never really had any words and still doesn’t, although she has a few sounds we think relate to specific things. So far, she doesn’t have any seizures, although I brace myself every day for them to start on a whim. We are thankful, too, that she doesn’t yet have any major medical issues. And while she can’t physically “do” a lot, she has a generally happy disposition (in spite of the occasional screamfest), has great eye contact, and communicates well (we think)through looks and expressions.

It’s her eye contact and good nonverbal communication that keeps me going, and makes me think that if I had to choose, I would rather have that than walking or hand skills, especially if it means she’s generally healthy, too. It’s so hard to define what are the really “bad” Rett traits. None of them are good, of course. And we’d all love for our daughters to be healthy. But I think it’s all really about what you get used to.

Sometimes I wonder what it would be like to really hear her voice, to hear her say, “Mommy.” But then I think it would be too heartbreaking to have her be able to say that, and then lose it. But maybe some families are bolstered by the memories of their girls’ voices. It’s so hard to say…

Of course, that’s what I think right now, when she’s three years old. I do think there are a lot of things that are getting harder as she gets older, and I guess some hard things I’m just getting used to. I’ll be interested to hear what other parents of girls with r168x say.

Thanks for your blog!

Laura in the US

JourneyBeyondSurvival - June 17, 2011 - 2:37 am

My daughter has a rare mutation within a rare syndrome.

She has a large deletion of the entire third segment of the MeCP2 protein as well as a partial deletion of the fourth. Instead of rubbing her hands together in the front, she constantly touches the hair behind her ears.

The thing too is that Rett Syndrome is determined by the gene turning on or the healthy gene taking over for each part of the body’s functions. We are hopeful. But, six years old is a long way off…

She has good eye contact and nonverbal communication. She is working on standing in therapy and is making good progress. I am frustrated though about trying to get people to listen past the body “noise” and realize how smart she is. As well as getting her to persevere and not give up on people so quickly. *sigh.

Your blog is gorgeous! I have a personal blog at Journey Beyond Survival, but the one I linked on my name above is my daughter’s site.

Thanks again,

Colleen Reilly - July 15, 2011 - 2:13 am

My daughter (15 months) was diagnosed with Rett (R168X) 3 weeks ago. This is all very new to us. She is the happiest little girl in the world – she crawls and can walk while holding onto furniture. We’ve been taking to her weekly OT, PT (for months, even before the diagnosis) and will be starting speech and other therapies soon. I truly feel the therapy helps her get stronger.

Eldon Heaston - January 12, 2012 - 10:55 pm

My daughter Alexis just died on Saturday from septic shock caused by a uti. She had the R168x mutation. She would have been 21 on January 21, 2012. While she could not talk she did vocalize and used eye gaze very effectively. She loved her Disney movies. Beauty and the Beast was her favorite. She was a treasure to our family she was always happy and for those who took the time to know her she would reward them with the gift of friendship. She suffered mainly with respiratory issues although the bug that got her wasn’t from the lung. We will miss her.

admin - January 13, 2012 - 9:23 am

Hi Eldon. That is just so very sad I’m so so sorry to hear that 🙁 And it’s very scary to think that they can die from something like that. Did anyone know that she had the infection? I do worry about that a lot – the idea that Grace could be in pain or have something going on that we don’t know about because she can’t communicate.

Also, I’ve heard that they can have abnormal reactions to pain so they might not feel the pain or if they do, be able to convey that in their communications.

Oh gosh…I’m just so sorry. Thank you so much for writing, though.

Whitney - March 4, 2012 - 2:33 pm

My daughter was diagnosed with R168x on Feb 24,2012. We are still working through dealing with this news. We’ve known for a while that something was wrong as she is 20 months but is around a 10 month old. She sat, signed words, waved, used a few words, fed herself, pulled to stand and many other things. Around 8-10 months is when we noticed that she stopped doing some of these things. She didn’t start crawling until 14 months. She is now 20 months and crawls very well. Finger feeds herself, pulls to stand and babbles. She LOVES singing and when people include her in conversations. Mickey Mouse Clubhouse can get a belly laugh out of her every time. She loves rocking in her own rocking chair my dad made for her. I love hearing other moms who’s children have the same R168x mutation.

jenny - May 20, 2012 - 2:32 pm

My little dumplin’ Eden (3) was just diagnosed ‘officially’ with the r168x mutation a month ago, after 2 years on the diagnostic road. We’ve known it was Rett for about 6 months before dx.

According to her neuro-geneticist, “in terms of this specific mutation, Eden is a rose.” She presents with seizures, loss of functional hand use (although she seems to be regaining a little bit), and complete lack of words. She’s been walking since 21 months, even skips a little when excited, and loves to twirl. Little bits of who she was “before” are beginning to peek through so we’re hopeful that she doesn’t lose anything else. In general she is a lovely, happy girl and absolutely worth every bit of effort 🙂

Karen Irizarry - June 19, 2013 - 3:58 am

My daughter has the same mutation

Kelly Hargraves Schoeller - July 13, 2013 - 11:06 pm

Mackenzie has R168X. She is almost 10. She does not walk and never did. She used to be able to sit up but lost that skill and now is able to sit up again for short periods. But she is a ROCKSTAR! She is a social butterfly and has LOTS of bff’s. She is reading…confirmed by Susan Norwell. She is very intelligent and uses her eyes to communicate very well. We just got approved for the Tobii. I feel like we are going to be 5 yrs behind but she will catch up! Her only source of pain is GI related. Her smile lights up the room and she touches everyone she meets : ) BTW–is there such a thing as a “good” mutation? Really?

Anonymous - August 29, 2013 - 7:29 am

my daughter Fionasofie has delegation R168X, she cant sit, walk, stand, and she never has. Fiona developed normally in the first couple of months of her life. She was able to eat her cake with her hands at 1 years old. Then short after she lost her handfunction. Fiona just started school after being trained after the principeles of Family Hope Center since she was 1 years old. We hope that someday Fiona will be able to sit by herself, and communicate a little verbally. Fiona has a Tobii, and shes currently learning to use it.

Anonymous - August 29, 2013 - 7:31 am

by the way Fiona started having seizures when she was 4 years old.
We control the with her diet.
It is by far the worst thing aboutFionas Rett, those epileptic seizures.

Anonymous - August 29, 2013 - 7:32 am

Anyone who know if there’s a FB group for this delegation, or who want to come together in one-

Jenny Starnes Tesler - September 3, 2014 - 9:12 pm

My daughter has R168X, she was diagnosed this past December 2013 right after her 3rd birthday. She does doesn’t speak, but she does walk. She had developed typically until 2 years old, then sensory issues started but no regression until almost 3. She lost her speech after 3 and her hand function has been slowly going away, but also has seemed to stabilize.

Lynn Mc Donald - March 3, 2015 - 11:38 pm

Meet daisy she also share the same nonsensical gene R168X and does not sit crawl walk etc. She is also 2yrs old and exclusively peg fed. Xx

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