MrsBalletStar05

FlgBride · May 2012

Hi there! We've been traveling and I just saw your post from 2 weeks ago about Fragile X Syndrome. My son was diagnosed with FX on April 3rd (on his 18-month birthday). Let me know if you have any questions. I'm more than happy to chat with you about FXS.

MrsBalletStar05 · May 2012

Oh gosh - thank you thank you thank you! Just to know there is someone else out there. If I think of any questions, I will ask :-)

We go to the pedi on June 8th and will ask to see a geneticist. He may not have it, I don't know - but it sounds about right. As silly as this sounds, I hope this is it - so we have an answer, a name, an idea of what to do and how to help him. Thanks for speaking up.

How mobile is your LO? At 18 months DS#2 was cruising a lot, but did not start walking on his own until 21.5 months... I know I've heard about delays in motor skills, just being curious. Is he a picky eater? At any given time DS#2 has maybe 4-5ish things he will eat.

FlgBride · June 2012

G's joints are very loose, so he is not very mobile. He just took his first steps this past Sunday (about one week shy of 20 months old). He cruises pretty well (probably not as well as a 'normally' developing kid), but doesn't crawl. Our first red flag was that G was unable to sit unassisted until about a week after he turned 9 mos. At that time, he was assessed by EI, but didn't qualify for services. We started PT shortly after that. His gross motor skills are painfully slow to develop.

I really didn't think that he was affected by FXS. He was evaluated by a pediatric neurologist a couple of days before the geneticist ordered the FX test and he told us not to worry. He was positive that G wasn't affected by FX, as he's very aware and 'active'. His assessment was that G's joints are hyperflexible, hence the delays in gross motor development. He told us that G didn't fit the typical profile for FX.

The diagnosis has been both devastating and a huge relief. At least now we know, so we can get him the appropriate therapies, etc. It's also a relief to be able to throw the list of developmental milestones out the window as G is going to do things in his own time. Not meeting milestones was so stressful for us!

G is a pretty good eater now, but he was slow to start solids regularly. He was 9 months old before he would even try anything and then it wasn't much. I would say he really became more interested around 14 months old (taking 3 good meals a day and down to around 15 ounces of formula per day).

I haven't been very good about posting here (I just introduced myself about a month ago), as we have been so busy/overwhelmed with adjusting to our new path in life and getting services for G up and going. I usually try to read through posts at least once a day. I certainly understand how frightening the unknown can be. I'll be looking for posts from you!

I really hope that you can get into a geneticist quickly. We had to wait 3 months for our appointment after our ped casually threw out that he thought G might be affected by FX. My husband teaches college biology and I'm about to finish my PhD in genetics, so we were both familiar with FX. It was the longest wait of our lives! It was almost excruciating.

MrsBalletStar05 · June 2012

Thank you for your reply. Everything you wrote sounds so familiar. It took DS#2 awhile to sit up by himself as well, around 9 months too I believe (didn't concern me since that was similar for DS#1, but then he did everything else immediately after). But then that was all he did for the longest time. Around 14 months he finally started scooting around on his butt for a solid 6 weeks before he went to crawling, ect. I don't think he consistently pulled up to standing until about 17 months. After those first couple of steps, I'd say it took 3 weeks before he was any good at it - so good luck there. Your hands will be full soon, hehe! And I just posted that this week he finally stood up from the ground by himself, but I think I've only seen him do that once or twice so far.

He was also very slow to get onto solid food. His picky-ness now is probably just because he is your average almost-2-year -old, heh (his birthday is June 6th). It bothers me because I can't get him to eat hardly any fruits or veggies or take a vitamin. We tried a liquid vitamin and he broke out in hives! He doesn't even like juice really, but I'm going to try that again in different homemade versions with hopes I can hide some veggies in there.

I brushed a lot of things off thinking he was too scared/shy/nervous and that he was just very big for his age. It took him months before he would pull up somewhere other than a couple key places at home. I knew he was slower at things, but I wanted to see how he'd do for himself....when we were closer to 2 rather than 1 and he was still so far behind others I felt it was time to finally look into things.

I know other kids his age are running, and especially climbing all over things, which he doesn't do. He's just begun to try to climb and he's rarely successful (and honestly, that is FINE by me!) He's a sweet and loving boy. The older he gets, the more he wants to cuddle/be held. I know part of it is his body gets tired easily too. Sometimes I feel I should be upset at his differences...it's hard not to compare to others, but I try to remind myself that he is SUCH a good and sweet boy, how could I really be angry? He's wonderful.

I hope we can get to the geneticist soon too. I know it probably really doesn't matter in the grand scheme of things if we find out today or 6 months from today, but I am anxious to have a diagnosis. I have a feeling this could be a long summer for our family!

How is speech going? DS#2 mostly hums, shrieks, and does babble some. I feel like we are getting close to "mama" , but we'll see :-) I know he will do it on his own time.

Again, thanks for your reply :-)

FlgBride · June 2012

When G didn't sit up by 8 months like he was supposed to, we also thought that it was because he's bigger for his age. At his 18-month well check, he measured 35.5 inches. He's very tall! He's only in like the 25% for weight.

I wonder if your little one has texture aversions, hence his unwillingness to eat fruits and veggies? We purchase those Plum Organics fruit pouches for tots for on the go snacks, etc. G really loves them. Just a thought.....I'm sure you've tried everything, I'm just trying to be helpful!

G still shrieks a lot, babbles a lot, and has a few words that he rarely uses. His receptive language is great. I've read that this is very common in FXS (poor expressive language, good receptive language). Is your LO in speech therapy?

You are right, a diagnosis today or in 6 months doesn't really change things.......but it is sooooo nice to know what's going on. Certainly, it sounds like you son could very well be affected by FX, but it could also be something else, OR nothing at all. How old is DS1 now? Does he seems fine?

One thing that we have learned in reading and in talking with others who have kids with FX is that there is A LOT of variability from one kid to another. There are many that don't have any gross motor delays, those kids are often diagnosed later. I believe the average diagnosis age is still like 7 years old. I would definitely say the earlier a diagnosis is made (in terms of age), the better. Early intervention appears to really help these kids! I think I read in your other post, that DS2 is in EI already, so it sounds like you are on the right path.

Please feel free to ask anything that comes to mind. For us, the not knowing was the worst. So many things run through your head, etc.

MrsBalletStar05 · June 2012

DS#2 is very tall as well...at his 18 month appointment he measured 37.5 inches (I honestly don't think that was accurate, but regardless, he is tall). Funny, because I have read that those with FXS are supposed to be short, or shorter than you'd think in regards to the parents. So far not true, ha! Who knows what will happen in the future however.

I do think he has texture aversions.... this week I am down to pizza and cookies (besides milk). Oh boy! I did get him to drink some V8 fruit juice (just a little) so that's an improvement!

DS#1 is nearly 5 now. He is somewhat fine, but we think he has completely different problems/delays. Personally, I think he has ADHD. The school knows something is up, but since he is so little and the learning curve at that age is not very sharp, he doesn't qualify for many services. He'll be re-tested in about a year. DS#1 and 2 are very, very different from one another.

Do you see a developmental pedi? Are you planning on it? I wonder if that is something I should ask about at our appointment on Friday.....I see people on this board talking about it and that sounds like something we should be doing, but who knows.

FlgBride · June 2012

I've read that those with FX end up being slightly shorter than their peers, but that they get their growth earlier than normal. I guess I'll (and maybe you) will see if that holds true!

We have a referral from the geneticist to see a developmental ped, but we haven't seen that doc yet. If it were me, I think I'd push to see the geneticist rather than the dev. ped at your wellness check on Friday. The geneticist will really examine your son and then decide if he needs testing based on your answers to questions they ask as well as their exam. For what it's worth, if the geneticist thinks your son needs to be tested for FXS, once you have the blood work done it only takes about a month to get the results. We got ours in 3 weeks. From what you've written, I'd be surprised if the geneticist didn't want to test for FXS. Plus, I think it's a test that is routinely done just to rule things out. Sorry, I got a little sidetracked. My point was that the geneticist will refer you to the developmental ped if they think your son needs it.

Have you checked out fragilex.org and fraxa.org yet? They are super informative sites about FXS. ADHD and ADD are also common behavioral issues in kids with FX. It's possible that both of your sons are affected by FX, but affected differently. I only suggest that because I believe you said that DS1 was also late at sitting up. That's usually an artifact of connective tissue issues and it can be manifested differently in each affected individual. I hope you aren't offended, I'm not trying to diagnose your sons......I'm just sharing what I know about FXS.

I look forward to hearing about how your appointment goes on Friday. Good luck! By the way, I think it's pretty awesome how proactive you are being in trying to figure out what's going on with DS2. It's very admirable!

MrsBalletStar05 · June 2012

Thank you so much for your answers! They were very helpful and informative. You could very well be right about my older one - maybe they have the same condition going on but are affected differently? I guess we will find out. I need to make a separate appointment for my oldest too, but since the younger one seems to need more help at the moment....ugh, too much on my plate, you know? I feel like I have to deal with one thing at a time. At the appointment on Friday maybe I will schedule something for him. I'll keep you updated :-)

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