Hypotonia Floppy Baby, possible hypotonic CP

[Sunisshining12]

I’m desperate for help and advice to enable my DS to become mobile. He is 16mo, can’t lift head or push up when on front. Never rolled, crawled, walked, can’t stand or weight bear. Extremely floppy and double jointed.

We go to physio once per month, no improvement. I’m willing to go private and buy any equipment needed, but am unsure what. I’m trying to educate myself reading for hours on google but nobody seems to say if their child walked how they got to that stage. Nor how seriously affected their child was. I feel like the months are flying by and he is still like a newborn, except enormous now (on 99th centile for height).

He babbles a little and can pick things up with his hands. Blood test and mri were clear.

I feel like my entire day is consumed trying to do physio and him screaming the house down constantly crying. Failing miserably.

Are you looking for help with getting him mobile under his own steam? I can’t help with that. But mobility is so important. Different situation to you, but 17mo DD2 has just been diagnosed with a degenerative neuromuscular condition that means she will never crawl, stand or walk, but is cognitively normal. We are now looking at how to give her the ability to get herself around.

Would a wheelchair be of interest to you? DD will need a powered chair, and we have been recommended to look into Whizzybug chairs which are small, light and can apparently be operated by under 2s(!). I think they require head control though.

Other than that it sounds like you may need some additional medical input. Have you had a diagnosis? Do you trust the healthcare team you are under? Any possibility of seeing more experienced physios? It seems like a referral to occupational therapy would be valuable too.

This stage is rubbish - developed enough to be interested in everything, but no mobility or language to communicate that interest, other than frustration. I have a lot of sympathy!

At 16m if he can't hold his head yet he needs full neuromuscular/genetic testing.., preferably Great Ormand street as they have an incredible neuromuscular team there. An MRI and blood test isn't sufficient.
Apologies if this has been the case, but often doctors are happy to wait and see, but it sounds like your son has a very significant degree of hypotonia.
For comparison, my DS2 was a very floppy baby.. but sat by 14m, and we were referred to the neuromuscular team who did a muscle biopsy, nerve conduction tests, full and very comprehensive physio assessment etc etc. He had supportive seating for bathing, a special needs buggy etc etc

Physio is all very well, but a 16m old who cannot move himself needs as much support as possible so that he can still experience the world as he should... please start shouting; ask for referal to GOSH, to an OT etc etc.

Equipment is expensive... gob smackingly so and you should not have to fork out for stuff yourself when there is an obvious need. You need an OT.

My DS2 did eventually sit, walk, but still needed an awful lot of equipment in the earlier years (now just wears afos to support his legs)

And hang in there.. it's an awful stage when you don't know the possible outcome, and you have a helpless wailing toddler.I would really recommend joining some special needs parenting groups
(I love Specialkidsintheuk) to fins others who GET how it is.
xxx

Thank you for the responses, it is a lonely and worrying time so I appreciate you taking the time to reply. I’m due to return to work FT but have asked to remain PT for a little longer. I can’t stand to leave him all day in nursery knowing he’s not mobile.

So far he’s had a full blood test, CK test and MRI, which all came back as ‘normal’. Awaiting nerve conduction results but. No genetic tests done but I will push for those. The consultant specialised in neuromuscular diseases and said it’s unlikely he will get a diagnosis as hypotonia is associated with hundreds of conditions, he couldn’t pin point anything specific to him.

His birth was emer c section but no other complications, apgar score of 9, 41w. He didnt feed well at all, couldn’t suck. Very sleepy and a little jaundice, I started to notice problems around 4 months, he only looked to one side, which was blamed on a tight neck muscle/Torticollis, which we were referred to physio for at about 8m. By then his head had become flat that side, and of course the lack of development became more evident from then.

The next appt is in 16 weeks with a community ped (never seen this ped before). I have tried and tried so hard today to get that appt brought forward but there are no earlier clinics. I’ve spoken to my gp and hv, both said wait and see what this ped says. Apparently this ped will be able to refer DS on to other physio and possibly OT if required. But of course that’s going to take months and months even from that appt.

We are not eligible for portage in our area. I doubt I would be successful claiming DLA. I had a quote for private physio at £125ph at home!

What can I do in the meantime, 4 months until the appt seems an eternity.

Claim DLA! Yes it's trickier to claim with a baby/toddler but not impossible... google the Cerebra guide to help, because it will really help you list all the things you do above and beyond what a 'typical' toddler would need... I'm guessing he can't self feed, needs repositioning constantly, needs a ton of extra stimulation because he can't access the world by himself... needs more than average help at night... see where I am going?
Oh and if turned down..wait a few months and apply again! We were turned down first time but not since!

Physio is useful of course but not the be all and end all tbh. If your eally have to wait another 4 months , start making a list now.. of what you need and want to happen next;

Ie a referral to Paediatric OT, referral to wheelchair/seating services (may come under the same umbrella) Dietitian if he isn't safely eating solids, and definitely genetics!

Sometimes there aren't answers... I work in special school (my son went there and I'm still there long after he has grown up!) and there are many children who never get a firm diagnosis... but others do, even if it takes years, or a random 'let's just test for this' from a geneticist.

There will be battles ahead in many areas... not trying to freak you out, but it's a fact.. so if you can get your ' my child's needs WILL be met' head on now, and prepare to be firmly demanding (aka a right pain the ass if necessary) it will all help your little lad be the best that he can be :)

My son didn't smile til he was one, he was this floppy wailing baby whom my Mum described as like a miserable little alien (he did have a very big, wobbly head!!!) but at some point between one and two he did at least stop wailing and became a sunny smiley boy...which made everything a lot easier to cope with!

Hang in there... start making lists, right now referrals and getting 'into the system' are one of the most important things you can do.

And ((hugs)) It's bloody hard. I remember the early years and wish I could go back now, and tell my old self that it would be ok..that I would be ok. My son has done far better than we ever imagined but he won't ever be independent... that thought broke me when he was tiny, now he is just a fab young man just as he is!

Does your area offer hydrotherapy? Might be worth giving this a try (or even just bringing him to a warm pool) to work on his core strength.

Are you still under the care of the neuromuscular consultant? I imagine your son hasn’t been discharged from that service yet. If so I would try to arrange another appointment with him for just yourself (and son’s father if appropriate). Our consultant is happy to see us at pretty short notice to discuss worries/questions. This may be different for us as we have a diagnosis of a very severe condition, but given your description and age of your son it does seem like you are now in the territory of it being more likely that he has a serious problem than not. Yes, hypotonia may be associated with many conditions, but it would be useful to know what the most common ones are, and what is being proposed to rule them out or in. A wait and see approach, with just monthly physio is no longer acceptable given that no improvement has been made and your child very much needs additional support to improve his enjoyment of the world.

Community paeds is a bit hit and miss. I wouldn’t hold out too much hope of getting somewhere in terms of diagnosis with them. However, they should definitely be able to help with putting things in place to address his needs regardless of diagnosis.

Our physio jumped us right up the queue when I told her how long we had to wait for community paeds referral. She got us straight to the neuromuscular clinic within a week. You could try speaking to yours to see if she/he has any influence in this regard. Probably unlikely though.

Given your difficulty with diagnosis and therefore prognosis, I guess it is time to start thinking of your son as having additional needs now. Focus less on what you can do to get him walking, and more on what he needs to improve his life. There are systems available to address these needs and you have to try to access them. We are just at the beginning of this journey too, and have yet to discover how much of a fight the whole thing is going to be.

And thanks to StillMedusa too. I’m currently feeling a bit broken and terrified. Good to know that you can get through the early days and start to enjoy life again.

Thanks ladies, will keep you posted. Until we attend the Community Ped we can’t access any PT, OT or anything else.

We take DS swimming every week.

I’ve pushed so hard for that appt to be earlier but told again the waiting lists in our area is miles long :-(

It sounds like you are doing everything you can in a difficult situation. If you have to wait for 4 months, then so be it. Just make sure that when you go to the appointment you are armed with a list of important questions and demands so as little extra time as possible is wasted. Our physio has referred us to OT, we didn’t need the doctor to do that. Could be worth asking yours.

If the physiotherapy is making you both miserable and doing nothing to help then maybe cut back a bit on it. Don’t make it the main focus of your days together. Clearly this is not a medically informed opinion though!

Regarding your nursery worries, we leave non-mobile DD with a wonderful childminder 4 full days a week. She is very happy and stimulated and included there.

I would also get in touch with the Wizzybug people. You don’t need a referral for that, and it could transform your son’s life designability.org.uk

Happy to keep chatting if it’s useful. I know just how tough it is.

LAT, my entire day is consumed by physio, I don’t enjoy him I know that but have this voice in my head saying if I don’t do the excercise he won’t get better.

Just had an update from NM Dr - EMG was fine.

Just awaiting metabolic blood results now. I asked for genetic testing, he said he will refer for that if the metabolics are ok. That is the last of the tests he said.

Next appt brought forward slightly to Aug, best he could do.

What baffles me is that he can sit up lovely. I’ve read lots online but nobody tends to come back years later with an update

Hi SunisShining, I saw your post on the other thread. DS didn't move until 17 months. (he did roll, but only to escape from the tummy position, which he hated). Like your DS, he couldn't really pick up his head in the tummy position, and certainly could not support himself with his arms in that position . All of the professionals mentioned hypermobility, hypotonia. But the thing is, it's not like he was trying to move. he has turned out to be severely dyspraxic - I think he just didn't 'get' the idea of moving, he didn't learn from watching. One day at 17mo whilst sitting he suddenly realised that he could move his legs to spin around in a circle, which eventually led to him bottom shuffling. Finally walked after 2, after months of handholding type walking. He is in a mainstream school with support now, doing very well. It's been a bit of a slog, but things are looking up. I found it hardest emotionally when he couldn't walk and all of his peers were chasing after ducks etc. I dropped a lot of 'mum' friends. There have been a lot of ups and downs but that's life and it is okay. PM me if you need to talk more.

Hi Sun. I get the thing about if you don’t do exercises all the time you will be failing him, but you have been doing this for months by the sound of things and achieving nothing but misery. I’m not saying don’t do it regularly, just give both of you a bit of respite from it and try to enjoy life a bit more. I know that’s much easier said than done, and that a non-mobile, non-verbal 16mo is fairly unenjoyable anyway. But there can be good times, especially if he can sit unaided.

I guess it’s good news that the EMG was normal. Not much closer to a diagnosis, but you can at least rule out a suite of horrible conditions.

I hope you’ve had a good day and your little boy has made you smile

Just wanted to update you all, after the fab advice, I got tough and pushed and pushed for a few days.

So we now have an appt next month rather than in 4 months! Consultant is also going to do a genetic blood test (micro array?) too next month, but suggested we keep an open mind on getting a diagnosis. Thanks

Hi.

My son was opposite from brith - like an ironing board
Mri, bloods, genetics etc all clear over the years.

We were a little later investigating as he met physical milestones (early!) but had an odd pattern of development iyswim?
He developed contractures suddenly when he grew.

He is also under NM disorder neurologist and saw a NM orthopaedic surgeon who immediately said she'd diagnose mild CP.
She is known nationally for her work with CP patients so I trust her judgement 100%. Is been asked lots over the years if he has it.

Can I ask what hospital you're under? We are under SGH.

To help your son in the meantime I'd ask for or self refer to OT. He should have a seating system, seating for bath and possibly due to his size he already needs a specialised buggy with supports at thoracic (chest area) and head. With regards physio they can't improve things by exercise anymore than you can - but they do need to monitor improvements and continued areas of need and keep the programme relevant. If you can see one on the nhs regularly that is enough. They can also go into nursery and train staff there to do it. Nursery can also apply for high needs funding for staffing to support him - this can be if you remain PT or return FT in the future.

CP can be diagnosed as it's an umbrella term for a set of symptoms that are caused by the brain. It's not well known but only 70% (iirc) of people with CP show any damage on an mri.

Also look at how children with hypotonia become hypertonic as they get older. The treatments for both these are polar opposites.

Id also for push for hip X-ray. My son had limited mobility in hips for years and an X-ray (at 13yo!) shows he has a pistol grip femoral head.

I totally get what you feel like when no one can say what something is and therefore you feel like there's no plan or prognosis.
Just remember to get everyone on board treating symptoms as the name of the condition won't have any affect but early intervention is key.

That’s great news Sun, well done.