Question for deepbreath

[hels9]

I was interested by your post on bicycles for dyspraxic children. Was your daughter the one with marfan's syndrome? They are now wanting to look more closely into the possibility of my son having a recognised connective tissue disorder or extremely rare myopathy. I was also planning on getting him a bike for his 4th birthday in the hope of helping him strengthen his legs. Is this likely to be a vain hope, then? He's never had any dislocations. He can pedal his tricycle, but only indoors on a very smooth surface - when I take him out on it, he just doesn't seem able to produce the force to get over the bumpier tarmac surface. As he doesn't have a diagnosis, I guess I've been kind of ignoring his symptoms and hoping if he exercises enough, he'll be able to gain enough strength and joint stability to overcome his difficulties. I thought a bike might be a bit easier to pedal than a tricycle, especially as he's so tall for a 3 year old so practically hits his knees on the handlebars of his trike. Or perhaps that's just me not wanting him not to be able to do something other children can do. Do you think your daughter will never be able to ride a "normal" bike, or just not while she's still so young?

Hi Hels9,

Yes, that was my dd with marfan syndrome

If your ds can manage to pedal his trike, that's brilliant! It's a very good sign that he might be able to manage a bike with stabiliers and a bit of a push to get him moving

Dd saw a physio earlier in the year. She gave us some leg strengthening exercises and recommended that dd should try riding a bike to have a go at building up her muscles, so she tried on my ds' bike.

Unfortunately, dd has the same problem as your ds. Even if the ground is flat, she can't get the pedals to turn.
Cue knees/hips/ankles popping out of joint because they are so lax, or at least getting very sore. She's tried pedal powered toys in the past, and hasn't been able to get them moving either. It's very frustrating for her. She cried once because we were out with dd in her Major buggy, and a girl around the same age swept past her on the most gorgeous, girly pink bike. It had tinsel streamers, the works

I think that because she is as tall as a 6-7 year old, the bike that she'd need now would be big and very heavy. I am very interested in the trike with the gearing, as it would be less strain on dd's heart too. I've just got to find about £400 for one!

Thanks for that, deepbreath. How frustrating for you both! I'm glad you were recommended to try and get her to pedal a bike - makes me feel a bit better that I've been trying to persuade my son that pedalling can be fun, despite his obvious frustration.

I find this whole hypotonia/hypermobility thing really confusing - my son looks so normal (albeit rather tall and thin), it's difficult to comprehend that he has genuine difficulties with things that other children make look so easy. I find it hard to stop myself thinking sometimes that he's just not moving the pedals because he's not trying hard enough, because it seems so silly he can't get them to move. I guess I would never have got quite so much pleasure from him learning to crawl, walk, climb stairs and jump if it had come easily to him, though.

It does make us appreciate things more when our children can do them, as it usually takes so much longer and is more effort for them to do it

How is your ds managing with other things, if you don't mind me asking?

Speaking of connective tissue disorders, I know a couple of people with Ehlers Danlos Syndrome (?sp) and several with Benign Joint Hypermobility Syndrome, because some had similar symptoms and were misdiagnosed as having marfans at first. There is also a body type called Marfanoid habitus. People with this are tall, slim and may have the joint hypermobility. They just don't have all the risky health problems that people can get with full-on Marfan Syndrome.

Sorry for waffling on, lol! It's just nice to find someone else that can understand.

It is great to find someone else who can understand - I've been hoping I'd find someone! My son's paediatrician is erring on the side of benign joint hypermobility syndrome, but wants an expert to have a look at him to rule out other forms of Ehlers-Danlos and extremely rare myopathies.

Apart from the gross motor side of things, my ds also has trouble with fine motor skills that require a strong grip. His pencil grip is somewhat odd(the pencil slopes forward instead of back into the web of his hand), but he already knows how to form all his letters and numbers, so it is just the grip and pressure that's a problem, not the control. He also has trouble gripping zips and I don't know how long it will be before he will be capable of doing up trouser buttons, unless he wears his trousers extremely loose around the waist all his life. He also can't pull down far enough on door handles to open doors by himself (although the handles in our house are rather stiff). His fingers and elbows seem to be especially hypermobile - quite unpleasant to watch. He also used to eat rather slowly (chewing-wise - was always brilliant at controlling his spoon and getting it into his mouth) and was late talking, which I'm told is fairly normal with low muscle tone in the mouth.

He can now run, but is very slow and you can really see his ankle pronation and flat feet when he's running, and also his arms are fairly ineffectual, although he moves them in the right manner. He can jump, although can't jump off things of any height, because he can't control his landing, and obviously has the right idea of how to hop, but just doesn't leave the ground!

Does any of this sound familiar? What particular day-to-day difficulties does your daughter have?

Yes, a lot of what you said sounds familiar. Especially the bit about running. I find that pretty painful to watch, as you can see her knees and ankles rolling in, even though she wears Piedro boots from the hosptial. She can't always manage to walk, let alone run if she's exhausted and sore.

I took dd into Clarks one day, as the physio suggested that a pair of properly fitting trainers would be OK for her to wear for a few hours occasionally, as a change from the boots. We couldn't get any, as dd's feet are around a C/D fitting. Dd did some of her party tricks with her flexi fingers and toes, and the poor woman that was serving us went green, then fetched the other staff so they could see! Does your ds delight in making people cringe like this too?

Eating is a problem, and has been since she was born. The roof of her mouth is highly arched, so I couldn't b/f her. She couldn't drink from normal bably bottles either. Now, she has issues with anything that sticks to the roof of her mouth. She has times when she won't eat much of anything.

Dd is slim like your ds, and can't wear clothes without the adjustible waistband. Everything in the right length seems to hang off her!

The main things that worry me are the heart and eye problems. Her aorta is already larger than it should be, and she is on beta blockers to reduce the strain on her heart. We are waiting for the latest 24 hour holter monitor results to come back. If the cardiologist isn't happy, then dd will have to spend a few days in hospital for further tests. She has eye checks every 3 months, as they were worried that her sight is deteriorating.

We have to push so hard to get the little things that can make such a difference, don't we? We waited months for the boots, were refused DLA twice (but we appealed and won). What support (if any) are you getting at the moment, or are you finding it tricky because you haven't got a diagnosis yet?

I know what you mean about shoes. My son's feet are also very narrow and it's just so difficult to find anything in normal shops that fits. Russell & Bromley are a bit better at doing some shoes in C fittings than Clarks are. My ds is pretty much OK without piedros, now, so long as he has well made shoes - his ankles pronate and feet are very flat, but it doesn't seem to cause him pain, and he doesn't seem to tire any more quickly without them than with, now that he doesn't lock and then flick his knees to walk any more. Hopefully he won't need to go back into them when he's older, although his rolling ankles do get commented on when we go to get him shoes, as if we hadn't noticed!

Ds does think it's funny when I ask him not to bend his elbows and fingers back the wrong way. I haven't seen what he can do with his toes, yet, although my husband says mine make him squeamish (I'm hypermobile myself, but not in any way comparable to my ds).

Clothes are definitely an irritation. Ds's trousers would fall down to his ankles if we didn't tighten the adjustable waistbands as much as possible.

I don't think my ds has any problems with his eyes - he did have them checked at the hospital but there was nothing unusual to report and his vision was normal (unlike mine - I'm dreadfully short sighted). We haven't had any checks done on his heart. He doesn't have a high arched palate or other unusual features, except for the marfanoid habitus, or none that have been commented on by the paediatrician.

It will be interesting to see what the specialist thinks of my ds - if he lets her examine him (part of the problem with the paediatrician is he's never let her near him!). I used to be terrified of what might be wrong with him, but as time's gone on, it's become obvious that he is getting gradually stronger and more stable, so the likelihood is that it is a benign condition (although I find that a slightly irritating term, as it implies it's harmless, rather than simply that it's something that won't shorten his life).

As for help, we did get physio, which was invaluable, and he's still on their books but no longer seen - unless he starts to experience pain. He's been reviewed by an OT who will from now on attend his reviews with the paediatrician (as does the physio, if they are all free at the same time!) and has given us some exercises we can do at home to help strengthen his shoulders, arms and hands as much as possible. If my ds had greater problems than he does, I would have been rather upset by the amount of time OT and PT can spare for each child on their books, but my ds was always a willing participant in the exercises we were given, so we were able to work on everything at home and make progress.

Gosh, that's a rather long message, isn't it! It's nice to have someone to let it all out to! Your dd is obviously more affected day to day than my son and (hopefully) my son doesn't have issues with his eyes or internal organs, but a lot of the difficulties they experience sound similar. I'm hoping the specialist can confirm my ds doesn't have anything too serious wrong with him without doing too many tests on him, first!

bit of a hijack sorry, but wondered if you could help. my son has some similar symptoms but no-one has ever come up with a name. He sees paed twice a year, has low muscle tone (but I don't know how "low"). Walked at 2, although early crawling and sitting up, physio sees him twice yearly and suggests exercises. We've now gone down the private OT route after waiting 6months for an NHS assessment and no date for any appts so far. He hates holding a pen and fine motor skills are dire.

He has peidro boots, glasses for extreme long sightedness and squint. He's not skinny though - so slight difference from your circumstances!! He's just 4 now and can just about pedal a trike. Still at nursery at the moment but will start school next September. There was vague talk by paed of notifying school/education authority of extra needs but I don't know if that means statementing or ..

He's had loads of blood tests, and some chromosone testing but nothing has been found. I veer between worrying that there is something really wrong with him and noone will tell me through to I'm overreacting and that he's got loads of minor problems.

Any advice or comments would be gratefully received.

Hi, alwaysworried,

Unfortunately there are loads of things that can cause hypotonia, as we've had the misfortune to find out! It's a good sign he crawled early, though, as that suggests a reasonable degree of strength and co-ordination.

I have found one website really helpful, because people post on it with children with loads of different conditions of which the main feature is hypotonia, some diagnosed and some not (often you end up with no diagnosis for the cause). It's an invaluable source of information and support for anyone whose child has hypotonia - you're more likely to find someone whose child sounds just like yours on there than anywhere else. The link is: messageboards.ivillage.com/iv-ppchdhypoton

Just don't let the website make you feel bad that most of the posters are from the US and they seem to get tonnes of physiotherapy, speech therapy and occupational therapy for their children. We'll never get that much over here! They also seem to do much more testing in the US, which I'm not sure I'd want replicated over here, anyway, as some tests can be very invasive.

If your son's strength and co-ordination are gradually getting better, rather than static or getting worse, I would veer towards thinking he has a lot of minor problems(in the big scheme of things, that is, since I know they don't feel that minor to parent or child), not a major one. How are his speech and cognitive skills?

Thanks for replying so quickly hels9.

I'll certainly look at that website. I assume my son has hypotonia. the paed has never ever given any sort of name or diagnosis, just "let's treat each problem individually" sort of thing.

I think probably (hopefully) the problems are relatively minor, although there he is clearly well behind his peers in most physical activities, and fine motor skills he was assessed as well over a year behind his age. His speech is ok. He's got a good vocab, although I think other people don't perhaps understand him as clearly as we do. Cognitive skills were assessed as appropriate for his age.

When I read some of the other posters on this topic, I feel really guilty in even lurking here,as my son's problems are obviously minor when compared with many other posters. I just feels we've always got an appt looming to see someone, but no one will ever give us any straight answers.

he had a difficult birth, cord round the neck, problems delivering him, and then he was not breathing at all so had to be intubated and spent a week in special care. Paed seems to think low muscle tone is not connected to this, but has never explained why.

Like you say hyptonia is often of "unknown origin" - but that does not help establish what problems they may have in the future.

Hi Alwaysworried,

I felt the same as you about posting on here. My dd's problems aren't as bad as a lot of the children that are mentioned in this section. To look at dd quickly, you'd see a tall child that wears glasses, and not a lot else up with her.

It must be very frustrating for you to know that something isn't right, but then he doctors can't say what is wrong.

When dd was small, she had to wear a Pavlik harness for several months to correct her very clicky hips. I put her delayed movement down to that at the time, but now we know that there was more to it. She had great difficulty crawling, and was fairly late walking. Seeing younger neices and nephews now that are OK brings it home to me how "floppy" dd really was.

Your ds sounds like a bright little boy, who has some physical problems. His sight possibly isn't helping with some of his fine motor skills/hand to eye co-ordination etc. How does he cope with this? Does he get very annoyed with himself?
Dd has been known to scream in frustration if she can't do something after several attempts.

I'm really sorry that I can't be more help, and I'm sorry it's taken a while for me to reply (I hurt my wrist, so typing's been a bit tricky!)

Thanks for your input deepbreath, especially with a bad wrist.

The paeds don't think he's got any cognitive issues. he certainly does get frustrated when he can't do stuff, and quite often now won't try. The OT is really trying to build up his self confidence, and praises him, as do we.

It's just difficult to see what's normal 4 year old behaviour, and what really is an "issue".

Is your dd got a statement or any extra support in school, and if so what specifically for? My ds OT was non commital but said that when he goes to school they will probalby assess him as having some extra support.

Hi, alwaysworried,

I really don't think you should feel bad about posting on here - you're more likely to get helpful answers to your questions on this board than any of the others. And I know exactly how frustrating and worrying it is not having a diagnosis to give you an idea of the best and worst case scenario for your child's future and his children's future.

I guess your paediatrician doesn't think your son's problems are caused by his traumatic birth because they don't fit in with the symptoms of specific brain damage as a result of deprivation of oxygen during and after labour(eg cerebral palsy).

I hope you do get some more answers in time. As I hope I do!

All the best.

Slight hijack, deepbreath, my dd has marfan too (she is 5). She seems to have a lot of the issues that you mention your dd has.
We were lucky enough to get her a terrier bike in bright pink. Worth every penny - has really helped strengthen her legs and really improve her confidence, you can apply to charities for funding.
The incident you mentioned with the buggy has happened a few times with us too -your dd is not alone!!

Oh wow, thank you Pippo

That bike sounds lovely!

Without sounding stalkerish, I might know you already if you're a member of any internet support groups. One that's worth a mention is the Marfan Friends World one, especially now the Marfan Association has withdrawn their community forum.

We live in the Midlands. Where are you, if you don't mind me asking?

deepbreath - I wonder whether it might be worth an application to Caudwell charity for dd's bike. They used to give to children within a 50 mile radius of Stoke but now consider nationwide applications.

dd has heart problems (not Marfans) and an issue with her legs. She did finally get to grips with her bike but still can't go far.

Thanks for the info, MrsGrinch

It's nice to hear that your dd has now mastered her bike. I bet you were over the moon the first time she managed it.

Oh yes deepbreath. It was a huge achievement for her. Actually though she did it before ds2 who didn't really manage a bike until he was 12 - he's quite hypermobile and unco-ordinated. When he hadn't sussed it by about 7 he stopped trying because he was embarrassed in front of his mates.

I'm struggling with dd a little at the moment. She had some surgery on her leg and has been discharged from physio as she has her flexibility back. But they commented about how weak she is in both legs. I need something to help strengthen her legs but without stressing her cardiac wise. They didn't seem to have any helpful suggestions

Sorry to hijack your thread hels.

Hi MrsGrinch,

Would your dd be able to use a chair bike?

I can't find a picture to show you what I mean (sorry), but a lot of mobility shops sell them, and I've even seen them in Avon brochures. You sit on a normal chair and have this frame with pedals on the floor in front of you. Most have variable resistance so you can make it easier/harder to suit.

Maybe some exercise in water might help too (but not swimming breaststroke, as this can strain the heart).

It's ridiculous that a physio would comment like that, then not give advice