Support thread for Chromosomal/Genetic testing and diagnoses

[glimmer]

Hey all,

My daughter, 15 months, is currently tested for genetic abnormalities, because she is not gaining weight (failure to thrive). It will be a few months before we get the initial results back but my understanding is that this might just be the first set of test and the we might be in for assessment over the next several years. Is anybody else interested in a support thread for those waiting for results, those who have gotten them back and are adjusting to the findings and those who are willing to share their stories and knowledge?!

Hi all - messmonster thanks for your reassuring words. We're getting help with the plagio now via private physio to sort the torticollis which in turn should help his head even itself out. Physio said DS's tort is the worst case she has ever treated .

On the upside, we had a diagnostic hearing test this week and it looks like his hearing is ok. We need to go back for a further test of the right ear as he woke up halfway through the test and started chatting, but the audiologist was very happy with him. He has been very verbal, smiley, giggly and social this week so developing well on that front. DH is taking from this that he's A1 so I feel a bit like I'm dealing with stress and worry on my own as the physical markers are still there...

No news on paediatric referral from St Thomas's yet but I have been asked to call tomorrow so this may be the first step on our journey towards testing. It sounds like a rough and long old road.

1980 it sounds like you've had an excruciating wait, very frustrating not to be getting any answers. What's the next step for you do you think?

Hi crazycat. Re the plagio - great your tackling it this early on. We had cranio osteopathy for our DD and also ended up with a "helmet" to sort her head out but that's because she was about 7-8 months before we did anything, having been fobbed off for ages with "it'll sort itself out". Head shape is fine now!

first time ive seen this thread. ds is 5, has had several tests, and still no diagnosis. prob has something to do with changing paed n therapists every so often. started through health center when he was bout 2 1/2 ( took ages for everyone to see there was something not right ). saw ot, slt and physio and paed. got used to them all, then got a place at a SN nursery, so changed all therapies etc to there. paed there ran tests for chromosone abnormalities and fragile x, all normal. also referred for mri, and said he had microcephaly. autism was mentioned, but wanted to wait, and assess him again later. sept last year he started p1, and changed therapists again. had mri in dec, according to paed ( who i have seen once, and had to push for the appt ) mri was fine, nothing they didnt expect. saw paed in feb, she had assumed he was diagnosed as autistic, ( which he hasnt, been diagnosed with severe learning disability ) she said he prob is autistic, and its up to me if i want him to have a formal diagnosis. so ive decided i do, and would like him assessed for dyspraxia. phoned paed, explained to receptionist what i wanted. said it would be sept before paed was back at sons school, couldnt see him before that, and may see him in sept. but she would get her to ring me. 3 weeks later, and no call. SW is gonna have a chat, see if she can get it moving. its so frustrating!

Hi Everyone - can't believe its been over a month since we've been on this thread!

How is everyone? Surviving the summer holidays??

A belated welcome Calally - did I read on another thread you were in NI? I am too. There's not much on for SN in terms of groups/play activities near me, I'm County Down :(

We have DS's wheelchair assessment next week - which gave me a bit of a shock, I assumed he'd be in the buggy until such times as he walked. But I've got used to the idea now and think that he might enjoy sitting up nice and straight. He hates the pram and tolerates it for about 20 minutes. I ended up holding him for nearly 90 mins the other day when we were pram shopping for a pregnant friend of mine. My back still hasn't made friends with me!

Anyway - it would be good to know how you are all getting on! Its been very quiet!

Hello again. I have been meaning to look this thread up as 2 days ago we got the results of the gene test that went off to Canada. It came back as normal, which is a huge relief, but now the geneticists have said that there is nothing more that they can test for and that it may be mitochondrial so they have referred us back to the metabolic team. The geneticists will see us again in 12 months so more waiting for us.

With regards to having more children, I'm unsure where this leaves us. From my limited reading on mitochondrial disorders it would appear that there could be a 100% to almost 0% chance of having another child similarly affected!

Wow, Sport, I'm also a little surprised about a wheelchair assessment for a 2.8 year old (that is how old your ds is, right?) I hope that you find something that will save your back! I've been seeing a chiropractor for my back and I'm quite impressed with the results. I've had to stop going this week though as it has been getting rather expensive. Ds loves his stroller though, it's the lifting him in and out of it that's doing my back in (he's over 19kg)!

No summer holidays here as it is the middle of winter (and cold) but ds has been doing well. Despite it being the cold and flu season for us, he has not been really sick (touch wood) and has not been admitted to hospital for almost a year (prior to this it was every 3-4 months). He is pulling up to standing at the sofa and will stand for 5 minutes or so if you hold his hands in front of him. I've been taking him to a local playgroup since our special needs one was cancelled through lack of support and he is loving it. I do find it hard though when people are really surprised at what ds can do. As he is still bottom shuffling around and not talking conventionally, people wrongly assume that he is incapable of doing other things.

I hope that everyone else is enjoying a bit of summer.

Hey sport, yeah I'm in NI 2. South Belfast ( never no which county it falls under lol ) summer holidays are stressing me out, ds doesn't know whats going on. As you say, not much about. Ds has summer scheme / days next week, and full week the 1 after at his school. SW managed to get him into and afternoon 1 for a week in august aswell. Have you been to or heard about the donkey sanctuary? Ds's maclaren major arrived a few weeks ago, it's been great, only drawback is, he doesn't wanna walk anymore, lol. Going on 1 of the stena fun days next week for ds's birthday.

Hi Stillinmypjs - that's great news about the Canada test, I'm sure you are very relieved. Will the referral back to the metabolic team take long? My DS had all his metabolic tests done through the Neurologist! Remind me have you had the microarray done too? With regards to having more children, have you seen a genetic counsellor? Although I'm erring on the no more side as I feel it's too risky we're not going to decide definitely until we've seen one! Our geneticist said he was confident our risk wouldn't be higher than a family with 2 NT children but he was quite blasé about it so I want to have a proper discussion before we decide (hoping in the meantime we might get some answers :) )

I've been carrying DS in a scootababy which is great but I forgot to lift it the other day which was a bit silly - I might actually go and see a personal trainer to get a few back strengthening exercises and maybe a few physio sessions in between! 19kg is heavy, think mines just over 2 stone so maybe 14kg!

As for the wheelchair - with DS2 we bought a phil and ted as I thought it would be awhile before DS1 was walking, it's supposedto so up to 5. I was really hoping he'd be somewhat mobile by 5 - but the OT said that there has been a move in recent years to put younger children in wheelchairs and he'll need one for school/school outings/trips - I've got used to the idea but we haven't told g'parents yet as they are still under the impression he will get better :( and I think this will upset them a lot!

Finally, the weather here is like winter too - lol

Calally - sounds like your DS has a few things to look forward to. Mines a bit young yet for summer schemes etc! But where is the donkey sanctuary - we'd love to go for a visit, is it riding or looking? I've wanted him to try riding for the disabled for ages as I've heard such good reports about it but I'm not sure where it is done!

Hiya sport good news on your results but you must feel frustrated at length of time before next genetisist appointment.Tis a bit of a shock when you get the first wheelchair but as you say ds may like being sat up better and he will have a better view of the world.
We have had a really busy couple of months-dd seizures still not settled enough and she is now hyperventilating and breath holding till she turns blue so all a bit confusing.She also left her special school today as we had a bit of a falling out over therapy or lack of it so she now has a place at new school for september which has a fantastic therapy unit and twice a week hydro-yippee-something we only ever dreamt of for dd.Also her scoliosis appears to be worsening so now needs a spinal brace-aarrgghh.
We have loads planned for hols we are taking dd kayacking and skiing and on holiday and loads of smaller stuff held at resource center for disabled near us so its going to be pretty hectic.Oh and course the therapist all want to come out.{grin}

The donkey sanctuary is up by the international airport. They have drop ins on a sat, but u can only look then. But theres a couple of Wednesday's in aug where u can go and ride on the donkeys. They have a Facebook page, est belfast

Evening everyone.
Not much to add but wanted to say Hi and hope everyones ok today...
Summer hols are going well for me so far, boys have been totally freaking awesome actually and I'm so happy spending some decent time with them.
Thinki some of it's down to that behaviour stuff (different post on here) but whatever it is I'm loving it!
Just waiting for the bubble to burst. is that awful?

Hi Unpa1d - hope the bubble doesn't burst and you continue to have a lovely summer! I'm hoping August will be a hot one :)

Growly - that's not good that the seizures haven't settled down, and then school and scoliosis on top of that :( Her new school sounds good - the school we're hoping DS will go to is just being built and it will have a hydrotherapy pool! He's a different boy in the water! Sounds like you have a great summer planned - v jealous, we've painting the kitchen and the living room to look forward to!

Calally - I liked Est Belfast! It looks great - Can't wait for a visit!

Ds has already been with the school, it only opened 22nd June. Going with ds 31st aug, looking forward 2 it. He loved it when he was there with the school

Hi all. Well, not much to report here either. (I guess that's not quite right).
I think we are really lucky in that we have no pressing health issues besides a summer cold. Nevertheless we are seeing an endocrinologist tomorrow since
there are studies that with certain chromosomal issues, growth hormones at a young age can help boost cognitive skills. Normally, growth hormones are not given until 7 or 8 years for people with "short stature". So they gave growth hormones to younger children with a specific chromosomal disorder (deletion on 18q) and they developed much better than in the control group. If anybody is interested I can add the link to the medical papers. DH found finally work 3000 miles from here. So he is here on and off and if he likes it I will quit my career and become a SAHM. It's a difficult decision because I have invested a lot in it. Oh and finally - we are expecting DC3 around X-mas. CVS says normal karyotype. (DD's condition is extremely rare and de novo, so we were more screening for more common disorders). Doesn't mean things will be fine, but still the best we can hope for! Did I say not much to report here??? To be honest, so many posts on this forum are about ASD/AS and our issues are so different that I am not around on a regular basis any more...

Hi glimmer. Ds has gdd and is v small for age so would be v interested to read the report. Thanks

Hi glimmer know what you mean about there being so much on asd and as i feel like i have nothing much to contribute and if i do it tends to be ignored.
Congratulations on expecting dc3 hope all goes well for you.x

Article "Growth Hormone Benefits Children 18q Deletions"

Growly - Yes. I mean all the issues are very valid and I am glad that there is such a great forum available to parents/self advocates on ASD/AS. It's just that our issues are very different, e.g. DD is very good at non-verbal communication, just has no speech, if this makes sense.

I'm with you on that glimmer and growly, there used to be much more of a mix, especially with 2shoes and riven about, asd is the one thing dd3 doesn't have

congratulations glimmer, fab news 3000 miles, is that even in the same country?! But well done him on finding work, not an easy task these days.

1980, dd3s new school has a hydro pool and a normal one, only they consider that to be too cold for the little ones so they get the hydro pool to use, dd3 doesn't need hydro but she gets cold very quickly and can't stay in long so it'll be lovely for her.

nothing new here really, just getting ready for dd3s new school and also have ds1 going up to high school, he has some mild learning difficulties so I'm rather nervous about that too.

glimmer, I know exactly what you mean, dd3 is the same, very good non verbally, very sociable, it's just a different kettle of fish as they say.

Glimmer, V interesting link on growth hormone. My DS has been on GH since 7 months of age, he has a chromosome 15 deletion and GH is licensed for this syndrome. Everything I read about it from the US said to start asap and that whilst it was primarily for improved stature it has also been proven to benefit cognitive development. I was lucky to find an endocrinologist who agreed to start our son so early. I know other families who were told to wait.

Thaks glimmer. Will have a good read. This is a great thread. Know what you mean about all the asd posts or at least I felt the same until learnt that ds v poss has asd as well sigh.

I think there are so many asd posts because a) it is so common b) the behavioural sensory stuff is so hard to get your head round and c) those who kids are high functioning don't get enough support or even parents are blamed in some way.

Hellenbach. Have you seen benefits you can link to growth hormone? Ds is under going genetic testing at month.

Hi Hellenbach. This is very interesting to me. I was told that GH is normally not prescribed until 8 or 9 years old, so any links you have to websites etc, I would be very interested in. I also read that it is very expensive which is why some people feel it is not administered more often. Obviously there are some side effects but IMO the benefits seem to outweigh the risks. The short stature is one thing, but if it has the potential to help with cognitive development, then it has really a lot going for it.

I hope people are fine with us highjacking this thread for a GH discussion....
(if not - let us know).

With 18q I think they understand the link between GH and what might help the cognitive development. Is this link established for 15-?
I talked to Unique and they told me that there is anecdotal evidence that GH also helps with chromosome disorders besides 18-, in particular the one, DD has, although the link is unclear and anecdotal evidence not statistically significant. That's why I pushed for an appointment (and yes, our Pediatrician is great and give me referrals for anything I ask for!).

Hellenbach, may I ask in which country you are based?

TheCrunchyside - I agree with all your points! Sorry to hear that you might have to become an expert on the ASp topic as well...

Hellenbach is the link the
IGF1R gene (insulin-like growth factor 1 receptor gene)?

Hi - I agree with what everyone said about the other threads, but please nobody go. I think we all have a lot to share - especially with Deciphering Developmental Delay due to start soon! And of course there will be new people just setting out on their journey!

Glimmer - hope you are keeping well, what is your due date? Good news about your DH's job as well, just a shame it's so far away! It looks like I may become a SAHM too - we have been unable to secure a place for DS1 at any nursery, my parents and PILs have stepped in in the interim but it's not a long term solution :(

Ninja - I'm sure you are looking forward to getting DD into her new school :)

Hello, I haven't been on this thread for a while, because we had ds's genetics results and they came back normal, they were fast tracked through, because the drs were worried that he may have Spinal Muscular Atrophy (this was cleared).

So we are in the vague world of global developmental delay, (is there going to be a developmental delay thread, 1980sport? - I'm intrigued!) He is still waiting for an MRI scan and he has been referred to see a muscle specialist at John Radcliffe.

I hope everyone and their dcs are ok.