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Delayed walking and talking at 21 months, anyone in same boat and what was the diagnosis?

(47 Posts)
yummymummy345 Sat 30-Mar-13 21:14:28

Hi there, my ds has always been delayed in gross motor skills. He crawled at 12 months, and at 21 months can walk couple of steps with a walker. He says just 'dada' and 'hiya'

He has been diagnosed with hypermobilty and low muscle tone.
The doctors are doing further blood tests (at some stage) he has been tested for chronosomal abnormalities which came back fine.

Just wondering if you have experienced the same for delays in both, when your dc walked/talked and if there was a diagnosis at all?

I have had two children who were referred to paediatricians with developmental delays.

One who had delayed motor skills and hypotonia as a toddler but speech was fine. When he was nine he was diagnosed with Aspergers and he still has problems with motor tasks and coordination at age 11.

Another had delayed everything. Some of her milestones were: smiling at 3 months, sitting unsupported at 12 months, walking at 24 months. Talking in 2-3 word phrases by age 3. She was diagnosed with mild global developmental delay. She had a lot of input: speech therapy, physio, help at school etc. She is now 8.5 and exactly average for everything. No longer needs an IEP. Middle sets for maths, spelling. Reading just ahead of chronological age.

Hopefully your son will make good progress. Either way, keep coming on this board as I've found it to be really supportive & helpful.

CouthySaysEatChoccyEggs Sun 31-Mar-13 03:11:54

Similar with 3/4 of my DC's.

DD's current diagnoses : GDD, Hypermobility, Speech & Language delay, dyspraxia, dyslexia, LD's, partial deafness, dyscalculia, 'Autistic traits' (trying to get a full dx now), Auditory Processing disorder, cardiac issues. And probably a few more I've forgotten...

She only had testing for Fragile X, which was ruled out.

DS2's current diagnoses : GDD, Speech & Language delay, Hypermobility syndrome, Auditory processing disorder, hypotonia, kyphosis, chronic brittle asthma, 'Autistic traits' (again, now trying to get a full dx).

He has only had testing for Fragile X, which was ruled out.

DS3's current diagnoses : GDD, Hypermobility, Speech & Language delay, hyperactivity 'with a high probability of ADHD', and he is being assessed for Autism in May. He also has multiple life threatening allergies.

Fragile X was ruled out, but he also had microarray testing which came back as 'nothing significant detected'. Though he does have worryingly high levels of an amino acid (Alanine) in his blood. Which may be indicative of mitochondrial disorders.

Whatever is wrong with one is wrong with all 3 IYSWIM.

I'm now leaning into researching mitochondrial disorders.

CouthySaysEatChoccyEggs Sun 31-Mar-13 03:13:50

Should point out, DD is 15, DS2 is 9, and DS3 is 2y2m. DS3 currently has around 20 single words (some are sounds that denote a word). Not talking in 2-word sentences yet.

Firsttimer7259 Sun 31-Mar-13 13:02:50

My DD has GDD, significant and across all areas. Shes just over 3 now, been walking since 2.5, crawled at 17 months. Her fine motor skills are v poor and there is no speech or gesturing altho intention to communicate. We've been through various rounds of tests all of which have come back clear. We get SALT and OT, physio has discharged us from regular sessions since the walking.

The time between 1 and 3 years of age was the hardest for me so far. Emotionally its a rollercoaster and practically its just very hard to have a large and frustrated baby on your hands. Since age 3 its been better, partly because the tantrumming has improved (routine and plenty of rocking and activity helped for us), she is slowly sleeping better, we get DLA at the highest rate which has eased the money worries and she is slowly developing the ability to play.

I would advise to get as much help as you can, apply for DLA if you haven't already, get as much childcare as you can afford to give yourself a break. Dont underestimate how hard this bit is. Its very common never to find out what the cause of the delays is. Being hypermobile and having low muscle tone doesnt really tell you much in itself. Try not to google there are some terrifying conditions out there and in all likelihood you will just persuade yourself he has them all.

rabbitstew Sun 31-Mar-13 15:47:35

Ds1 is hypotonic and hypermobile, crawled at 17 months and, with huge amounts of physio, walked just before he was 2 years old. He had very advanced receptive speech, but was late talking - low tone in the mouth (also rather dribbly...). However, he could read fluently at the age of 3 (around the same time he started speaking clearly!), has a phenomenal memory, is excellent at mental arithmetic, diagnosed with aspergers at age 6, diagnosis withdrawn at age 8... He is doing extremely well academically at school, is well liked and has a little group of friends. He has no instinct for movement - seems to learn that by rote... but as he has become more physically confident, he has also become more outgoing. He is lovely and eccentric and very good looking, though I say so myself. smile

elliejjtiny Sun 31-Mar-13 17:17:06

I have 3 DS's with similar symptoms.

DS1 - walked at 21 months, slight speech delay, a bit hypermobile. Some autistic traits.

DS2 - walked at 2y 9m, no speech delay but struggled with feeding due to low tone. Hypermobility, hypotonia. Loads of tests done but only one came back with something: raised muscle enzymes, but not high enough to be muscular dystrophy. Now aged nearly 5 and uses a wheelchair for distances. No official diagnosis but we've been told that it looks like ehlers danlos syndrome type 3.

DS3 - walked at 2y, slight speech delay, reflux (happy chucker variety, ie lots of puke but very little acid) which resolved at 20 months, uses inhaler when he has a cold but gp reluctant to diagnose asthma.

survivingwinter Sun 31-Mar-13 18:00:47

My dd has low muscle tone, hypermobility and associated difficulty with fine motor control and balance. Her issues are due to oxygen deprivation at birth.

Cognitively she is absolutely fine and she's very able academically, it is just gross and fine motor movement that is a difficulty. She crawled at 15 months and walked at 20 months but balance continues to be a bit of an issue so she has physio to help.

rabbitstew Sun 31-Mar-13 18:24:59

My ds1 had a blood test to rule out more severe forms of muscular dystrophy, too, and was seen by a neuromuscular specialist who commented that she had seen a few children who had muscle weakness where my ds1 did who went on to be diagnosed with connective tissue disorders. Ds1 has a diagnosis of Ehlers Danlos syndrome, hypermobility type. That diagnosis doesn't explain all his unusual characteristics, though!

yummymummy345 Sun 31-Mar-13 20:09:25

Sorry to read that many of you have little darlings with similar issues, it is just getting frustrating for him, and he kind of screeches for things although I try and encourage him to ask for things, its difficult without a diagnosis to know how much to push him iykwim.

Heartening to read your post rabbit

And thank you firsttimer it does feel a bit difficult at times, and I feel that people just think get on with it. But I am constantly trying to encourage him to do as much as possible to socialise (as very clingy), speak and walk lots of toddler groups ,researching things, special boots I should be buying etc etc its always on my mind.

Thank you really appreciate all of your replies.

The frustration thing can be difficult. With DD we used a bit of Makaton and some fridge magnets we made with photos on them that she could point to.

rundontwalk Sun 31-Mar-13 20:34:09

Our ds is globally delayed,low muscle tone, hypermobile. We have had lots of genetic tests,all clear. We have entered into a few long term genetic studies,but have otherwise drawn a line under it.

Our ds wears piedro boots which have helped a lot with his walking. He is now nearly 4 & has been walking for around 6mths. Although v late to start,he is fast catching up with his peers. We found swimming & riding helped greatly.

Speech wise,he is very delayed but is starting to see the point in communication & this has been a big leap forward. We are using lots of visual cues, pecs, makaton, timetables etc.

Can I ask,are you getting any support I.e Portage, OT, SALT etc?

I'd also recommend the book 'small steps forward' by Susan hyland-lots of practical suggestions of things to try. & keep posting on here-its an amazing place.

CouthySaysEatChoccyEggs Sun 31-Mar-13 22:55:12

blush I still can't draw a line under not having a 'proper' diagnosis for what is CAUSING these difficulties in so many of my DC's. their presentation is so similar that whatever it is, it's the same for all 3 of them.

Is till can't fully accept that, despite DD being 15, DS2 being 9, and DS3 being 2!

SWAN UK is helping though, knowing I'm not alone, without a dx.

SWAN UK = Symptoms Without A Name. Well worth a Google!

firawla Mon 01-Apr-13 02:00:57

my ds2 is another one similar-ish. walked at 20 months, took steps from 18 though. speech very delayed he is only just starting to learn to repeat words after you and he is 3.5 yr. all his development has been delayed. his main dx is autism, with 'probable dyspraxia' (apparently they wont give definite dx at his age), a speech disorder (again probably verbal dyspraxia), and he also has low muscle tone and some hypermobility. some hearing loss too. before he had asd dx it all used to get classified as gdd but apparently thats not really a dx more a description of the symptoms (im not sure?)

i definitely 2nd the suggestion of portage if you have them available in your area, i have found them really useful and helpful. it can be overwhelming thinking what are you supposed to be doing, and feel like time is going by and not getting enough done for them and feel frustrated as you have no dx, and they can really help to point u in the right direction for services and give u help for what to do meanwhile, and just generally answer your qs, find things out for u and offer support

pollypandemonium Mon 01-Apr-13 02:02:11

Hi - were you taking any medications when you were pregnant?

alwayslateforwork Mon 01-Apr-13 02:36:41

Dd2 crawled at 15 mos, walked at 2 with a walker, (used a standing fame from 12mos) walked unaided around 4 or 5 (but used the walker for playtime until the end of yr r), started to speak around 3, but due to dysarthria caused by low oromotor tone, wasn't v intelligible. Is now 9, has cerebral palsy, an iq of 142, and skis black runs. She also intends to be the first Chief Justice with a physical disability. She taught herself to read before she could talk, but of course, we didn't know that...

Couthy, when was the last time you guys have a genetic array done? I know a few kids in mid teens who have picked up definitive dx at that point, just because of the advances in genetic testing since they were last done as toddlers.

Bryzoan Mon 01-Apr-13 08:08:58

Hi, my dd is 32 months. She can makes a few word attempts but has about 60 makaton signs and is starting to get quite conversational. She has low tone and can only go a few steps with a walker. She also has a mild global delay. The genetic array showed nothing but a diagnosis of kabuki is being considered and looks likely as she has many physical markers (Inc slow growth, bumps on her finger pads, a small little finger and some facial features - high palette, small mouth, thick eyelashes). We are seeing the geneticists in June.

yummymummy345 Mon 01-Apr-13 11:46:56

tree PIcs on fridge a great idea.

run where do you get the Piedro boots from- were they prescribed for you through physiotherapist. Do not have another appointment for 6 months!! seems a long time.

always love this- amazing.

polly no meds, was careful not to have even paracetamol. DH said he came out blue and had to have small amount of oxygen when born, but nobody (professionals) seems overly concerned by this.

Have been refererred to Portage , self referral to speach therapist. Feel that you really need to find out stuff for yourself then push for it. I had no idea you could claim dla, even though I did give up my job as ds was always poorly with bronchiolitis too and not all the appoints for hospitals etc

Those dc with actual diagnosis- what where the typical symptoms displayed by your child?

CouthySaysEatChoccyEggs Mon 01-Apr-13 12:16:16

DS3 (the 2yo) had his done in October last year, only got the results a Month ago.

No Karotype yet, and the Paed won't let me have the report.

Thing is, they said to me on the phone "Nothing significant detected". That says to me that something was detected but they have deemed it not enough to cause an issue or something.

My 15yo DD and my 9yo DS2 who present VERY similarly, have NEVER had microarray tests done, and local NHS is refusing to do them, despite the obvious genetic link as my Dbro has the same issues and I have some of them...

Driving me mad tbh!!

CouthySaysEatChoccyEggs Mon 01-Apr-13 12:20:03

Piedro boots - usually given by an Orthotist from the orthotics Dept. Or available online direct from Piedro, but eye-wateringly expensive.

My PCT no longer does Piedro boots for hypermobile DC's, only orthotic shoe inserts.

Piedro boots cost in the region of £120 a pair when bought direct from Piedro, as I've been doing since DS2 was 7 and they stopped giving him Piedro's at orthotics.

My local PCT's stance now is that they aren't trying to permanently correct the lax joints and foot roll-in, they are just looking to support it now.

Hence inserts rather than Piedro's.

Bryzoan Mon 01-Apr-13 12:21:43

Yummy it is crap but you really do have to push. I would phone and ask for an earlier physio appt.

alwayslateforwork Mon 01-Apr-13 14:06:32

Symptom hunting isn't ideal, tbh. Many of the symptoms are shared by so many different dx that you will drive yourself mad! Generally if it's muscle tone based, cp will be discussed at some point, usually from a birth history pov. Then ehlers danlos etc. There are both EDS and CP support threads on here - even if that isn't an eventual dx (or if he starts to catch up on some delays) most issues with low tone are managed the same way, so there will be lots of ideas to glean.

We had Piedros for four or five years from about 2 - to start with we were advised just to buy supportive boots from indie shoe shops - a lot of the European makes were fine (elefanten etc, although I gather they may have subsequently gone bust!) Piedros were physio supplied through orthotics, and the pct would also let us order through them for second pairs (cheaper than ordering direct privately).

Later on, kickers are a reasonable substitute in the interim. Dd1 had neuro insoles in her Piedros. As she got bigger, the orthotist discussed appropriate use - in order to strengthen the ankles as far as possible, she did need to spend some time without supportive boots etc. it's always a fine line. Same with seating - do you provide supportive seating that holds the pelvis and trunk in a good position and frees up the hands to promote fine motor? Or do you give less trunk support because you want to work and strengthen the trunk?...

Decisions, decisions...

Couthy, that's crapola.

rundontwalk Mon 01-Apr-13 15:57:01

Yes we get our Piedros through the physio & will prob move to just insoles next time. It is important that they are fitted correctly. Our ds was also given a trunk support band to wear for parts of the day-we have bought similar ones in poundland since.

I forgot about seating-our ot has supplied a chair for home & preschool and they have been brilliant for him. It means he can focus on the task at hand rather than fidgeting around trying to balance.

I would honestly say that the things that have really helped have been seeing a decent ot trained in sensory integration & focussing on improving communication (i.e not just speech). Things like little pictures on a keychain attached to my belt, photos lined up (& taken down as they happen) to create a timeline.

Sorry for the essay but we stumbled around in the dark for what felt like a v long time.

yummymummy345 Mon 01-Apr-13 19:04:54

Thank again for all of your replies.

couthy that is rubbish- I take it you have pushed for the report at very least and asked what 'nothing significant' actually refers to.

The consultants I have seen although busy, ( so months between appointments ) have explained what they will do and what the results mean so far- ds seems to have higher than average (only just) thyroxine in his blood which can cause delays bit the consultant doesnt seem to thnk the issues are hormone related.

always you are probably right re symptom hunting can lead you up the (wrong) garden path.

It seems that diagnosis isnt always available- seems crazy with all the tests etc

yummymummy345 Mon 01-Apr-13 19:06:49

The podiatrist has given insoles but wil push for shoes- no harm in asking.

hazeyjane Mon 01-Apr-13 19:12:58

ds is 2.9, with gdd, low muscle tone and a variety of other issues.He has had a variety of tests, MRI, bloodtests and genetics tests. It is felt by the geneticist that despite all the genetics tests coming back negative, that he in all likelihood has a genetic condition causing his delays. He is in a long term study looking at the diagnosis of one particular conditon that they feel he is likely to have.

It is very hard when you have no 'hook' to hang the issues on, and I do feel compelled to keep looking, although for the moment, the condition ds is in the study for is being treated by the professionals as his 'possible and likely diagnosis'.

Overall though, as time has gone on, it has been more about getting the right support for each need.

As Couthy says, SWAN UK may be of help, they have a very active and friendly facebook page. There used to be a thread on here, which I started originally for those of us looking for a diagnosis, which FirstTimer revived recently.

PollyPandemonium - I am curious as to why you ask about medication in pg, it's not a question I have ever been asked by any of the professionals we have seen?

pollypandemonium Mon 01-Apr-13 19:57:31

I think you should push for a diagnosis, if only to eliminate the thyroxine / birth difficulties issues.

Try to get referred to a geneticist at Great Ormond Street - they work together to get a holistic picture of the child, unlike other hospitals where one department won't talk to the other.

Hazeyjane, my daughter was affected because I took a medication in pregnancy and there were thousands of others. Paediatricians should definitely be asking these questions about medications and what happened in pregnancy and at birth.

hazeyjane Mon 01-Apr-13 22:43:36

I see what you mean, polly, and yes, we have always been asked about the pregnancy and birth, but I have never been specifically asked about any medication, and I wondered if there was something specific, associated with delays.

Yummy, have you been referred to a geneticist? There are more detailed genetics tests than the basic tests, and a geneticist is very good at seeing things that may be genetic markers. There is also a research study, called the DDD study related to genetic conditions and developmental delay. It is a long term study, and one that a geneticist has to put you forward for, but which means that any new tests and diagnoses are tested for.

I don't know what the system is where you live, but when ds was 10 months old, he had a Team Around Child meeting, which set out what support he would need, and we were appointed an early years support worker to help co-ordinate things. It has still been a push and a fight for a lot of things, but at least at the meeting, we were made aware of the various professionals involved and who we should be kicking up the arse to get things moving!

alwayslateforwork Tue 02-Apr-13 02:34:24

Yy re support bands etc. dd2 used a gurt big tubigrip around her core for a few months, and was then fitted for a full Lycra suit - there are all sorts of things that can be tried.

The further along the sn path you get, you realise that science is all one big guessing game, however definitive the docs attempt to pretend they are...

ouryve Tue 02-Apr-13 08:39:49

Missed this thread over the weekend.

21 months was when DS2 started walking - also hypermobile with low muscle tone. He's only just developing useful, though not consistent speech, now, at almost 7. He has ASD.

So not terribly reassuring, I'm afraid. We think the dyspraxia that comes with his hypermobility is a strong factor in his speech delay, though - he has issues with the textures of a lot of food and he drools a lot. When he starts using a word, he often says it clearly a few times, then starts to get sloppy with it, losing terminal consonants, etc.

MissDuke Tue 02-Apr-13 10:19:40

Couthy I think that's just the standard line they use to be honest, like when I ring my GP for test results and they say 'satisfactory'. I would rather they said 'normal'!

I would absolutely ask for a 2nd opinion though, it must be horrible having that doubt.

My understanding though is that they use phrases like that because they can never say 'normal' as new variations are being discovered all the time, so all they are saying is that they didn't find anything of concern at this exact point in time, but that's not to say there isn't a problem x

pollypandemonium Tue 02-Apr-13 10:20:07

Hazeyjane there are a lot of medicines that are teratogenic. If there are any doubts on the patient information leaflet you need to be very cautious. The recording system is woefully inadequate and there is a lot that simply isn't knownv and in my experience the latest research has found that the PIL was completely inaccurate.

ouryve Tue 02-Apr-13 15:42:54

That might be true, polly, but how does that help the OP?

pollypandemonium Tue 02-Apr-13 17:15:46

Because she's asking for help about diagnosis and what she took in pregnancy might give her a diagnosis. Have I done something wrong here?

alwayslateforwork Tue 02-Apr-13 17:31:14

Nah. But it's just a bit niche, and is usually covered by the profs very early on, along with 'are you related to the baby's father?' grin

It's no secret that some medications have horrifying effects on foetal development (you just have to look at thalidomide) but it is really just a check box answer in most developmental delay cases to rule out a cause. Likewise environmental factors, whether you took recreational drugs, and alcohol consumption. I think the focus on prescription medication is somewhat misplaced on this thread, but agree that it is one of the things that should be 'yes/no' answered early on. So, no, nothing wrong in double checking, and it is only natural that you have this focus yourself, with your personal history, but in general it's probably not essential to prioritise it as a possible cause. It's just one of the things to check.

Polly, hopefully dd is doing well, now. It sounds as though you have had a good experience through GOSH. I don't particularly share your view that it's the only place where a child is treated holistically, and have lots of experience of inter-departmental collaboration (and we move every year or two, so have had experience of lots of different pcts). Again, we all have different personal experiences to offer.

hazeyjane Tue 02-Apr-13 19:06:16

We have had fairly good experiences of consultants referring on to each other too, alwayslate.

I would also say that whilst a diagnosis is important, it is sometimes not as simple as 'pushing' for it. Many of these tests are not conclusive, and there never seems to be a black and white answer (well ime anyway!) And in the case of genetics testing, everything is developing all the time, and new conditions are being diagnosed all the time, so sometimes even if the geneticist is sure there is a genetic reason behind the delays, there may be no diagnosis for years and years.

According to SWANUK 'It is thought that about half (50%) of children with learning disabilites[1] and in approximately 60% of children with multiple congenital problems[2] do not have a definitive diagnosis to explain the cause of their difficulties.'

yummymummy345 Tue 02-Apr-13 21:36:51

NO mention of geneticist as yet. But havig all of the information, even if the doctors do not think it is necessary/beneficial I/(or others reading this thread) can at least ask the question.

I have always felt unfortunately through experience that you do need to push and arm yourself with info to get any kind of results. However, I do take the point that even if you push there may not be the answers, also in this particular situation it took 5 visits to the doctors and a heated telephone call regarding his delay to get a referral. I knew there was something not quite right with him not bearing weight and currently, I am not convinced that he understands what would perhaps be expected at around this age. He is also not interested in tv/books/toys especially.

Sorry for ramble had a much needed glass (or 5) of wine!

alwayslateforwork Wed 03-Apr-13 05:41:51

Wine good. I may have a glass myself ;-)

CouthySaysEatChoccyEggs Wed 03-Apr-13 06:29:58

Polly - you weren't on sodium valproate were you?

(I have epilepsy but have never been pg while taking that, as I only took it for two doses as I was massively allergic to it!)

CouthySaysEatChoccyEggs Wed 03-Apr-13 06:31:54

Trying to get seen by a geneticist but proving difficult to get Paed to refer on. I am seeing Paed again on 24th and will insist.

I want to try to get my three with the same issues on the DDD study.

CouthySaysEatChoccyEggs Wed 03-Apr-13 06:33:57

Run - trunk support from Poundland? What should I be looking for - DS2 could really do with this.

pollypandemonium Wed 03-Apr-13 06:42:34

No Couthy it wasn't that med. I will pm you. What's the DDD study?

hazeyjane Wed 03-Apr-13 07:06:47

here - Deciphering Developental Delay.

Couthy, your GP should be able to refer you to geneticist (where we are, ds's paed had to ask gp to do the referral)

chocjunkie Wed 03-Apr-13 08:14:33

couthy, as hazey said, maybe try the GP? we were referred via paed but it was a struggle to convince her. no idea why paeds are that stroppy hmm

however, once we saw the genetics team it was plain sailing. the offered testing straight away.

CouthySaysEatChoccyEggs Wed 03-Apr-13 09:58:27

GP won't refer (whole other story...). The Paed has to. But I WILL be insisting at next appt.

rundontwalk Wed 03-Apr-13 17:38:57

Couthy- the trunk support is in the medicine section,they have wrist supports,ankle supports & nxt to that the trunk supports. It's literally a stretchy band of material that you wrap tightly around the trunk. We had a more sturdy NHS one but when the physio saw this one she asked me to get her some.

We were referred into the ddd study by a genetics cnslt.

blueberryupsidedown Wed 03-Apr-13 19:46:07

DS similar, diagnosed with Developmental Verbal Dyspraxia, hypermobility (mild) and low muscle tone. No other associated issues.

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