Now I know DD has rett syndrome

[gaelle79]

Hi all,

I've been worried about DD since she was 12 months all. She was not even bearing weight on her feet at that time, was crawling since 11 months and had 0 word.

Since then and despite all my attempts to get her checked etc, everyone told me she was just fine and that I was over anxious

She stated making progress, slowly but still: pulled up to stand at 14 months, pointing at 16 months, walking at 18 months

Now at 19 months, she has around 20 words.

Problem is, since she started walking, she has mad 0 progress with stability and balance. She is still very wobbly. Again, everyone told me it was normal, that she needed more time.

2 weeks ago, I started noticing more and more unusual hand movements: she would touch her cheeks a lot, clasp her hand in her back while walking, pat herself or me, twist her wrist for no reason etc.
I was concerned about that but since everything else seemed ok, I brushed it off.

2 days ago, we were at an appointment. She was sitting on my lap, barely awake from a nap when, all of a sudden, for no apparent reason, she clapped, once.

Right after, she wiggled to get on the floor and play around. Twice in a row, she tried to sit and would lose balance and fall backward.
I was so alarmed. When we got home, I tried her, getting her to seat and she was no longer falling backwards. Again I thought I was silly.

Today, I went to pick her from her child minder. When she saw me, she tried to run to me, tripped, fell on the floor and stayed their for too long. She tried to pull herself back up but it was like she couldn't so she walked on her knees to the pusher that was close buy and leaned on it to pull up.

I felt sick to my stomach when I saw that. I took her back home, gave her her diner (she needed herself) and then took her out of her high chair and sat her on the floor. My DD tried to stand right up but could not. She was stuck in this weird position (but up, hands on the floor, head down) and couldn't go all the way up. She tried twice then gave up and sat back.

I tried to talk to her, motivate her, she would look at me and raise her hand so I would help her.

I tried this at least 5 times. She succeeded only once. The rest of her attempts was so painful to watch. I could see her struggling to get back up.

She started doing this perfectly even before walking. For the last 2 months or so, she could get on her feet, unsupported from a sitting or squatting position in a blink

I can't even cry tonight. I am so scarred and shocked I can't even process this.

Please help me. If you have any insight or support to give me, I need more then words can tell

I'm sorry you're scared and upset. Honestly though what you describe doesn't necessarily sound alarming or worrying. Have you spoken to anyone about your fears about Retts syndrome? Are you waiting for any test results?

DD has been seen by a specialist about a month ago. I told her about DD's weird hand mouvements but she said toddler often have self soothing or self stimulating behaviours like these.

It was before i noticed her struggling to stand up on her own
this morning she was dropping her sippy cup hand her bunny all the time. She never did that before

I'm not waiting for any test result yet.

I just want to sleep and never wake up again

I'm not a doctor. Even if I were a doctor I couldn't diagnose from reading a description online. But.

Rett's affects an estimated 1 in 8,500 females. It's incredibly unlikely. ghr.nlm.nih.gov/condition/rett-syndrome#statistics

You've already talked to a lot of health professionals from what you've said. They've all said there is nothing to worry about. Walking at 12 months, clapping for no apparent reason, pointing at 16 months - these are all completely within the normal range. Actually, walking at 12 months is pretty early and it's very normal for kids to be wobbly little things to start with.

So I'm not saying that your girl hasn't got Rett's. I've no idea - like I said I'm not a doctor - but what screams out from your post isn't Rett's, it's anxiety.

Sorry - just seen you said she walked at 18 months. Again, perfectly normal. According to that link in my earlier post girls with Rett's start losing skills at 18 months, not acquiring them.

These things are far more likely to have a completely benign cause. Have you booked another appointment with the doctor so you can get him/her to check DD over again, since you feel things have changed? You do sound so horribly anxious - I have been there too and it's unbearable. Poor you.

@Pansiesandredrosesandmarigolds: I know how rare it is. Actually, I'm praying that statistics will be on my DD's side. This disease is so terrible :(
Regarding the age of onset, the 18 months mark is just a mean. A lot of Rett girls start their regression after 2 years old and as old as 4 years old.

In the last couple of days, she barely said a word apart from a few mamas here and there...
She now drops things more often (her bunny, her sippy cup, her spoon while self feeding, a piece of bread). Those are things she would never do before.
She started doing hand washing motions. I saw her do it today. she was in her stroller and it was totally out of the blue.
She has an appointment in 2 weeks.
I'm praying now, that's all I can do. Please pray for my baby girl.
please pray for us...

Big hugs OP, you and your DD are in my thoughts. I hope you get the answers you are looking for xxx

You are the one that sees her and I understand you're worried, so that's absolutely correct to get her checked out.

But there isn't anything here that would worry me. Hand motions are totally normal-all mine did the hand washing motion, clasped hands behind back, clapped once, all went through a stage of dropping things which became apparent it was deliberate.
Twisting the wrist I though all babies do, mine all did and all their peers did that I remember-I can remember discussing that at toddler group and every parent said their child did it.

Two of mine had on-off problems with balance: With ds it was related to ear problems-have you had that checked and with dd2 she would regress when she was ill. Dd2 walked at 8 months, but still would regress to crawling for well over 12 months later if she was ill-or even tired, and if she did stand would appear drunk in balance, and would also choose to walk on her knees.

OP, I've just looked at your posting history. You've been convinced your daughter had ASD, GDD and then Rett's. Meanwhile, a ton of professionals have said she's fine.

It really does sound as though as well as getting her checked out for Rett's you should look seriously at your own anxiety. For your daughter's good as well as your own.

I agree with Pansies. She sounds fine! Most under twos are about wobbly, some more than others. That's why they are called toddlers, because they toddle around unsteadily. Vocabulary does come and go a bit while they are learning, that's normal.

I know plenty of parents whose concerns about their children have been dismissed repeatedly by clinicians, only for them to turn out to have been right in the end. My own 6 year old ended up being very poorly after being turned away by medics repeatedly for two weeks with appendicitis.

I also know that there are some parents whose own anxieties make them see symptoms and patterns that aren't there, although I haven't met any personally and I don't think this is that common.

It's impossible to tell on an internet forum which is the case for you but I know that, whichever it is, you are going to find the lead-up to that appointment really difficult.

I hope she turns out to be fine.

Hi all,

thanks for your support and kind words.
I know I'm an anxious person by nature and that's why I keep second guessing myself.

That said, my DD was not bearing weight on her feet at 13 months. She would cry if we tried. That plus not pointing at all, having one word (mama) and crawling at 11 months... My worries started then and never left. I had 1 or 2 weeks of relief here and there when she did a new thing but that's it.

Back then googling the lack of pointing always ended up on autism sites. She was high on the mchat risk chart till 18 months. Still now, she wouldn't get a 0 on it.
For instance, DD rarely points to show interest, only to request. She pointed to show interest maybe twice :(

As of today, we are waiting for her appointment on Thursday.
Since the last time, she is doing better with transition (getting up on her own ...)
She's still very wobbly and still falls a lot but a little less then before.
yesterday someone (an A.H.) made joke about her gait and asked if she had parkinson...
No improvement on the talking side. She added one word lately "more". The only new word in weeks.
She hand motions are still there tho. She drops more things, more often and still claps out of the blue. I haven't seen her do the hand washing again but she now does this motion right here:

She will do it once and move on but she does this exact thing, sometimes at the wrist, sometimes a little higher on her forearm;

I'm praying that my baby is fine and that all of this is in my head. I'm praying she doesn't have this terrible disease. I'm here to ask you if any of your children did something like this particular motion before ?
I'm looking for some hope.

Thanks again to all of you

I think that it's not going to be helpful to ask for reassurance from the Internet. We don't know your daughter and it would be very unwise to say whether she has or hasn't got a particular syndrome from your descriptions. You will hopefully get answers or further appointments/tests on Thursday. Have you videoed any of the behaviours that concern you to show the doctor? That might help them understand your worries and see for themselves what you mean.

I think the M-chat is meant for between 16 months and 30 months, and if you score above 2, when under 2yo there is a high frequency of false positives so they say to retest after 2yo.

Not pointing at 11months is by no means unusual.
20 words at 19 months is well into the normal category. Some children will be at that stage adding multiple words a day, but others will be much slower. It's still normal. When mine were little they said they looked for 6 appropriate sounds at 18 months and about 50 at 2 years. She exceeded the 18 months one and may well exceed the 2 years one.

Clapping out of the blue is again normal, and dropping things is something toddlers find fun, especially if they get attention/a reaction from it.

Do video the hand movements if you're going to the appointment, but really all of mine made hand movements.

gaelle you seem incredibly anxious. Your dd's physical development sounds a lot like my youngest dd's. She first rolled at 11 months old,crawled at fifteen months old and walked at eighteen months. At 19 months she was still a new walker and so wasn't steady on her feet, couldn't manoeuvre round obstacles and if she fell she would crawl to pull herself up to standing.
Dd had a chromosome test at 13 months to rule out Retts or any other chromosome disorders because she had a spectacular regression at 12 months and so lost all her skills couldn't laugh,smile,clap or wave and no longer said the words that she had.
Dd doesn't have Retts and her chromosomes are seemingly normal but she was diagnosed with autism aged two which is what I expected tbh as her brother has autism as well.
There is nothing really from what you write that would strike me as worrying tbh. I have three without autism besides and they have all had their idiosyncracies as well. Some might have looked odd at the time but I think toddlers are just learning about the world about them and their place in it and have none of the self restraint of older children so I suppose it's understandable.
Try to relax a bit,she is a new walker she is still learning.If in six months she is still a wobbly walker ask your GP for a referral to a paediatrician would be my advice.

Your child's motions don't seem very strange at all to me. She seems to be moving very normally for a child her age.

@gaelle79 How did today's appointment go? I hope you got the support that you are looking for.

I have an 18 month old and I don't think anything sounds odd about your DD. Based on what you describe maybe i should be visiting the GP as my DS has only 2 words! Similar to your DD my DS still falls a lot even though he started walking at 14 months. But I can see he is getting stronger day by day and can now attempt stairs. I strongly believe every child is different. I say this as I am similarly anxious like you and have believed that my DS may have ASD, cerebral palsy and what not! After subjecting him to all possible tests (thankfully we have private healthcare) I found out he is a normally developing child. In fact he ended up crawling (4 point) at 7.5 months which is on the earlier end of the scale.

He is delayed in his speech, but I have really stopped looking on the internet for an answer. Hopefully that will come eventually.

I don't want to dismiss your concerns but I just thought to share my own experience.