Ehlers Danlos Syndrome and CF 10yo DS

[mummabear1]

Hi everyone,

Its been one thing after another in our house for the past year healthwise.

Anyways my 10 yo son who has always been as healthy as an ox is now looking likely to have Cystic Fibrosis and also Ehlers Danlos Syndrome!! Bloody hell. I actually fainted dead at the doctors when he told me thats what he suspected I got such a shock. Apparently they are both quite uncommon and the two together on one day in one appointment had this doctor leaping around in excitement. He couldnt wait to write his report to our doctor as it was so interesting!! I just felt sick.

He has been experiencing this weird this with his hands where they get really water logged and start peeling after 5 mins in the shower and they look terrible after his 45 min swimming lesson. I googled it and every single thing pointed at CF. There are no known CF cases on either side of our families at all although Im now aware that two unknown carriers together can produce a carrier or a CF child. We are awaiting on the blood tests for this.

Then the EDS thing - I had never heard of it. He has always had flat feet and over pronating ankles (his dad and grandfather have flat feet so assumed it was a hereditary thing) and has been able to do odd bendy things with his fingers and hands for the last year or two. Im a bit bendy - nothing major - can touch my thumb to my wrist, elbows turn around a but more then usual and can touch my palms to the floor with straight legs so assumed again he was just a bendy like me. Apparently not so!!! This EDS looks terrible! He now has to go and have a heart scan on Monday to check his mitral(?) valvue isnt loose and floppy because of this problem!!

OMG. I truly just dont know what to worry about the most! After worrying about a possible CF connection for a bit, I then remember about the EDS and its just overwhelming!! They did said they thought the EDS could be mild - but didnt elaborate - does this mean it gets progressively worse as he ages, stays the same??? Im the same I was from a young age so it hasnt effected me at all - was never told there was anything wrong with me! - couldnt he just be the same?? He is so talented at sport and dreams of being an international cricketer - I couldnt begin to imagine how heartbroken he would be if he was told he couldnt play sport anymore as his joints and bones starting popping out or worse when he played!!! I should mention he has had physio twice for falling and doing something to his hip and back in football before. I did think that was a bit odd as kids usually bounce back after that sort of thing not require physio.

Sorry, long dribble. Im home alone with my youngest DD this weekend and its all just got too much for me. I wouldnt have even got out of bed if it wasnt for her being here. I just feel so down and sick about all this.

When it rains it pours.

Anyone out there have any experience of this weird hand issue and it hasnt meant CF?? Or have any experience of this EDS thing that hasnt meant the end of an active life?

I also have two DDs - so now Im living in fear of what any possible diagnoses for my son would mean for them too :(

Apart from wrinkly hands, does your ds show any other signs of cf? Eg repeated chest infections, poor weight gain, loose/foul smelling stools? Does his skin taste salty?

It is possible to have a late diagnosis of cf but there would usually be a number of signs leading towards SN investigation.

The correct test for cf in the first instance would be a sweat test where they measure the amount of salt given out in the sweat. Has your ds been booked in for a sweat test?

I can't help with the other condition by my 7yo DD has cf

an investigation not SN - am typing on my phone!

Hi Minty

Thanks for your quick response.

Not really any other signs with the CF. Gets the odd bit of croup - maybe once a winter. No chest infections ever that I can think of. I can always tell when hes been in the toilet though as the smell is quite atrocious! But then he eats a lot of salami so wondered if it was from that?

Ive been licking him a fair bit lately on the forehead (which hes most baffled about! Poor boy) and I cant really taste anything. He does smell a bit strange sometimes - pre-puberty boy though?? The girls have a totally different smell to him - they smell flowery whereas he always reminds me of a kitten smell. That sounds odd???

Hes a skinny thing, average height, but all his cousins were like that until they got to 17. He always thrived as a baby despite having quite bad reflux. The doctor did tell me he would have thought something else would have shown up by now if he had CF but then again the hands are new so whos to say something else isnt going to start happening now - chesty stuff etc. This might be the start of it all.

No mention of a sweat test yet. I did ask as I had read about that. Think they wanted to wait until the blood tests come back before looking into the next step. I guess he could be a carrier and have the hands as a symptom? Does your DD's hands go like that in water too?

I'm surprised they are doing a blood test first. I understood the sweat test was the main diagnostic tool and the blood test was mainly used to confirm the presence of 2 mutations. There is some benefit in knowing the exact mutations you have as different treatments are being developed that will only work on certain mutations.

Anyway, it doesn't sound a particularly strong case for CF so far (she says!). My DD tastes salty when you kiss her and if she's being running around she's just like a bag of crisps, its very noticeable. Also if she didn't take her enzyme supplements with food she would be on the loo all the time.

As to her hands, they get dreadfully wrinkly in the bath or swimming pool sometimes to the point of hurting her. I can't remember exactly but it seemed shared after she was born before her fingers smoothed out!

It is possible to have a late diagnosis of cf but its usually in people with a history of chronic asthma or undiagnosed chest infections.

Hope you get the tests done soon and you can know one way or the other

He sounds like he is leaping to conclusions rather too quickly.

I would try not to worry too much..hard I know..until you have test results.

We saw neurologists like this who forgot we had fdelings and got all excited telling us DD had various conditions.

She doesn't.

Hi OP.

I have EDS. So does my DM, DB and DSis. We all have it mildly. It sounds like you have it too. So you'll know how little it can affect you! It is not something that has to mean getting progressively worse.

It is a connective tissue disorder. Basically more than the average amount of collagen in our tissue making joints a bit bendier and looser, skin softer and stretchier, etc.

I have trouble writing with a pen for long periods of time as my hands hurt. My ankles give way when I'm walking sometimes. When I was pregnant the pressure on my hips meant I had terrible SPD because of the pre-existing looseness of my hips.

But that's about it! Doesn't bother me much at all.

DB is mad on football and has had some injuries that if it wasn't for the EDS would have meant terrible, terrible breaks. But instead he's just bent and ended up with dislocations. Still horrible injuries but preferable to what they could have been if he wasn't so pliable!!

Late diagnosis of cf is unusual, not unheard of but unusual since the UK rolled out the heel prick test for all newborns as this tends to enable early diagnosis.

I have known re tests be completed on older siblings if they are symptomatic (or previously diagnosed with asthma or the like) and have a new sibling diagnosed with cf. Usually this would involve both a sweat tests and blood tests. Similarly some children are treated in line with cf standards even if they don't have cf but clinically present with chronic chest infections

If they are suspecting cf you will need to be referred to your area specialist cf team who will manage the care, there are quite strict guidelines for the care of patients with cf which you can find on the cf trust website

I've got to dash now but can come back later.

Thanks everyone. I just dont know what to think. One thing would be bad enough but the two together would just be truly awful.

What I cant get is how this specialist came to the EDS conclusion so quickly. Our next door neighbour is double jointed (8yo) and when he runs his hands and feet look slightly unusual in that they flick forward a bit too much. His mother hasnt been told anything more sinister then he is just double jointed. My sons feet dont do this but the specialist didnt really investigate too much to see what they did. Im desperately trying to tell myself he didnt really do too much looking to come to that conclusion but I know he is considered a very clever man ....

Well hopefully on Monday this echocardiogram will show no damage to the mitral valve or whatever it is. Ive had one done - I have hashimotos (thyroid issue) and they checked my valve as I developed a heart murmur. Something wasnt closing 100% apparently but not considered an issue but now thinking about it maybe whatever that problem was is what they are looking for in him?? God who knows.

I really appreciate all the comments guys. Mintyneb when did your daughters hands start doing the wrinkling thing? My sons has only started in the last 6 months or so?

Are you sure he meant "is likely to have" rather than "we better rule out"?

Because a friend's dc was referred for "suspected CF"-or that's what she heard. When it came back negative, she realised what the Dr had been saying was "we better cross the t and dot the i, and be certain we're not dealing with this before we move forward." In the panic of hearing it, she had just really heard "he has CF".

I would have thought it was unusual for a child to have had no chest infections and to have CF-although does he still get croup? As I thought it was unusual to have it after about age 5yo (although I may be totally wrong there) The child I refered to above was having 7-8 severe attacks of pneumonia a year.
Is it possible (people in the know) for CF to be one of those things that you can be a carrier of with a few mild symptoms but not develop the full disease?

If he is found to have them (and it's genetic not a mutation) then I would imagine that they'd want to test your dds. But I think the chance of each having it would be 1/4 (1/2 carrier, 1/4 completely clear). ie if you had 4 other children on average you would have 1 with CF, 2 would be carriers, 1 would be clear.

I remember him saying that CF was pretty much the only reason why hands do that (he gave me to take home, a CF handout and aquagenic hands handout both confirming this and the EDS info). I really hope he is jumping the gun here but everything i read online as well only ever points to CF. He did say that he would have thought that something else would have manifested by now (eg, chest infections etc) for the CF. Im clinging to that.

He still gets croup but only about once a year and only ever for a day or two at a time and I usually give him redipred (steroid) for it as he does struggle to breathe when he gets it. Hes usually pale the next day but still keen to run around. Never really gets sick otherwise at all. Our GP is often surprised that he still gets croup at his age but I remember having it til about 10 myself and mum shoving my head under a tea towel inhaling a steamy bowl of water.

My DD6 has had pneumonia twice and gets a bit rattly and snotty through winter and DD8 gets quite phlemgy coughs. Both the girls have a daily asthma preventer but then again even they arent as sick as most of the kids in their classes at school.

I am wondering whether you can be a carrier and have some symptoms. I have also seen on Dr Google that there are people in their twenties or later that have suddenly found out they had CF, not just carriers.

Found this: Aquagenic wrinkling of the palms (AWP) is a rare condition that often occurs in patients with cystic fibrosis. It may also occur in carriers of the cystic fibrosis gene. It has previously been called transient reactive papulotranslucent acrokeratoderma, aquagenic keratoderma, aquagenic syringeal acrokeratoderma, and simply wrinkling of the skin.

And this : AWP resembles the exaggerated wrinkling of the palms which is caused by spending too long in a bath or pool. Clinically, it is characterised by the appearance or worsening of a palmar eruption, following brief exposure to water. It takes longer to appear in mutation carriers (about 7 minutes) than in patients with cystic fibrosis (2-3 minutes). The palmar eruption is comprised of small, white or translucent papules that coalesce into plaques. The feet are unaffected. Patients may report an uncomfortable tight or burning sensation during an eruption. In most cases the palmar skin returns to normal within a few hours of exposure to water, however, in some cases the eruption can persist for longer periods.

So it can occur in carriers who don't have CF. Good luck

Cf sounds unlikely tbh.

EDS or maybe he means hypermobile joints have to mean a serious type - have a look at hypermobility.org/

on the forum the peeling hands has been diagnosed as dishidrotic eczema (pompholyx),

www.hypermobility.org/forum/viewtopic.php?f=4&t=2493&p=179459&hilit=peeling+hands#p179459

so it could be allergy/excema type reaction thing

hypermobile joints doesn't / don't have to mean serious EDS type...

Hi my DD has always had wrinkly fingers, as I say when was born it took ages for them to smooth out.

A lot of parents (who are therefore carriers of the faulty gene) of children with cf do comment on having minor cf type symptoms. In theory the body should be fine with just one working gene but I guess sometimes its not quite enough. Typical symptoms include chest infections, sinusitis, nasal polyps, bowel complaints....

Remember that whilst cf is one of the most common inherited genetic conditions in the UK there ate still only about 10,0000 sufferers which out of a population of over 60 odd million means its still pretty rare

Tbh I would have expected your ds to have shown more signs of cf before now tbh although it can and does vary in severity even between siblings with the same genetic mutation.

It does happen that occasionally you have patients who have never a chest infection or course of antibiotics in childhood but this is by no means the norm!

Sometimes the best thing is to test to rule out things to be on the safe side - hopefully this is what the doctor meant.

Really, don't get too worried about the EDS thing. As koalaface says, you've probably got it too. While I'm sure the severe forms can occasionally be a problem, the mild form can be just a fancy way of saying that you're a bit bendy. I think it's actually pretty common in this mild form but there's normally no point even mentioning it or giving it a label.

FWIW most of my family (including me) probably have a mild form of EDS. We are a pretty sporty family and apart from mild aches and pains sometimes it is a complete non-issue.

You can find a label for a lot of pretty mundane variations of "normal" if you look hard enough!

Thanks kernowmissvyghen. Thats right - why the hell are there so many labels around these days?? Im sure they make a lot of people worry more then they need to. The doctor mentioned Izzie from Coro had this - immediately thought "wheelchair" and panicked. My son is absolutely sports mad. Watching it in front of the tv alone would not cut the mustard.

Well I guess I need to just wait and hear results back from both really. I cant stop crying its terrible. I worry about the CF and then I start to worry about the EDS. Im shaking like a leaf. Wouldnt it be a bloody miracle if nothing eventuated from all this. I know Im praying.