Ehlers-Danlos Syndrome

[bendystretchykid]

I have name changed as I post a lot and my DD would be embarrassed in the highly unlikely event that I could be identified.

I love my darling girl so much and I want to help her. Four years ago, I had a happy, healthy, physically active and sociable daughter, Today, I have an 18 year old who can't attend college full-time, uses a wheelchair and is fed by a tube.

I would say she started getting niggly problems (pain and strains) with her hips, back and knees and feet when she was around 11/12 but it was always thought to be due to her love of everything active; ballet, tap, gymnastics and horse riding etc. The pain in her joints got worse and she slowly started to give up all her physical activities. This made her quite miserable, as you can imagine. The doctors assumed she gave up the activities because she was depressed and offered psychology therapy which helped with her mood but not her pain. As she had this label of "depressed teenager", when she started vomiting and losing lots of weight and needing hospital admissions due to dehydration, what did they think? Of course, eating disorder! She fainted a lot but we were told it is because she is purposefully starving herself. After a lot of pushing, cue accusations of pushy mother with neurosis, we got a diagnosis of for her gut issues and she NJ tube fed. We also found that her heart rate raises to 200+ upon standing which is no wonder why she keels over.

I pushed and pushed to find out why all this is happening and got fobbed off with Joint Hypermobility Syndrome. But I think she has Ehlers Danlos Syndrome, given the severity of her symptoms and I want targeted treatment towards rehab for her. I am not convinced that we will get very far without this diagnosis. I cried at my GP surgery earlier this week and the kind GP thinks I'm pinning too much hope on a new diagnosis but I don't think it's new; it's the right one.

The other stumbling block we have is that DD has premature osteoarthritis everywhere. She is stiff in the mornings and has a very limited range of movement. Apart from this, she fits Ehlers Danlos to a Tee and all I want is acknowledgment and proper treatment.

Please help me help her. Am I wrong to insist on a second rheumatological opinion? Does it matter if she is diagnosed with EDS or JHS?

I have EDS and so do 4 of my 5 DC's. Some drs will say that EDS and JHS are the same thing, others disagree. TBH I don't think it matters that much as the treatment is mostly the same. Acknowledgement is so important though, it's awful for them and you if all the medical people are dismissing you or telling you it's a mental health problem.

DS2 is my most severely affected child. He's 8, in a wheelchair and struggles with pain and tiredness. He eats a lot but is very thin, was failure to thrive as a baby. He's had these problems since birth and has had a diagnosis since he was 4 so it's a very long process.

Even with a diagnosis he doesn't get that much support. I've learnt more from EDS facebook groups and the special needs bit of mumsnet than I have from the professionals. He sees the paediatrician every year and gets his wheelchair adjusted for growth every 2 years. Sees orthotics every 6 months and the vision support team every 6 months at school.

MASSIVELY LONG REPLY:

also, if her heart rate rises on standing, look at PoTS (postural tachycardia syndrome) which is linked to EDS. The PoTS can be managed, although with her other health issues that would be trickier.

DD2 has (mild) EDS and (not mild) PoTS - although her cardiologist seems to have changed her EDS diagnosis to benign JHS, which I'm not too impressed with. DD1 has JHS, although she's affected more by the hypermobility than DD2 is.

It seems that rheumatologists disagree as to whether they are the are the same thing, or just very very similar. Plus some of the other variants of EDS are much worse than hypermobility type (was type 3). But, treatment ought to be the same regardless of the diagnosis, as it's the symptoms which are treated.

Also linked with EDS/PoTS is gastroparesis (literally "stomach paralysis"), so after an hour and a half or so, food comes back up, as the digestive system has shut down - DD2 spent a long time being told her was due to constipation, and it took MH input to finally get somewhere. But yes, it's rubbish when you know your DC is actually ill, and because they are a teenage girl, the automatic assumption is anorexic/pregnant/on drugs/makign it up for attention.

Don't know where you are, but there is a rehab programme at Stanmore (near London) for teens with EDS, very strict criteria for admission, and long, long waiting lists, but I hear very good.

If you can afford a private consultation (I think he's around £350) then the person you want is Professor Rodney Grahame in London. For NHS, then Hypermobility.org have this small list.

Otherwise look at the website of your local hospitals and see what is listed for the interests of the rheumatologists there, as there might be a hypermobility interest shown (although hypermobility gets put to rheumys as it doesn't really fit in anywhere). You might find some specialist physios locally, again, really really quiz then hard about their expertise, as your DD has pretty complex issues. Jane Simmonds at St Johns and St Elizabeths (the Hypermobility Unit above) is v good with EDS I understand (DD saw a different physio there who was OK but not amazing).

To manage the PoTS you're looking at a cardiologist probably - I can recommend one in London, but if you can say what area you're in, I can see if there's anyone local to you - I'm on a FB group for parents of DC with PoTS so we have recommendations country-wide.

To summarise, if it's EDS hypermobilty you think she has, getting the diagnosis changed probably won't make much difference (other than some doctors think it's a more severe version, and sometimes take you more seriously). If the rheumatologist you saw didn't set up a treatment plan, or send you somewhere for that (some consultants do diagnosis only, then ask the GP to arrange treatment - Prof G did that for DDs EDs, but did refer to an amazing paediatrician for the PoTS), then you certainly need a different rheumatologist, and the GP should sort that - not for a new/different/correct diagnosis, but for some treatment.

Finally, I spoke to DD while writing this mammoth post, and she said to tell your DD to try counselling again if she can - DDs paediatrician explained to her that generally the symptoms are a sign that you body isn't happy with what you're doing to it (in DDs case, not enough water and regular exercise, and falling out of her routines), so if you're stressed about eg being ill and not getting any treatment, that can very easily show as gastroparesis (or in DDs case fainting). Getting things sorted in your head (CBT can be very very useful for this I understand) will help the symptoms. That's not to say that it's all "in the head", but getting your head in the right place helps an awful lot. We were very close to psychiatric inpatient admission before DD got a medical diagnosis because of what her psychiatrist called "an extreme but normal reaction" to her situation. Knowing what was wrong, how to manage it day to day, and getting your head round the whole situation makes a massive difference - DD went from collapsing 120+ times a day to (mostly) managing by herself at uni five years later.

You have all my sympathy - please PM if I can be of any help, particularly if you don't want to put your location here

I have JHS/EDS type 3 - pp above just about covered everything!

If you're based NW then I recommend Dr Pauline Ho for a Rheumatologist. She's very straight talking and has the condition herself. She will advocate exercise but prescribes the right drug therapy too.

Knowing your doctor gets it was a huge thing for me. Hope it starts to get better for your DD. Xx

All the replies are really, really helpful. THANK YOU!!

DD does have a POTS diagnosis and severe gastroparesis. She's awaiting more tests as her small and large bowel aren't thought to be functioning properly either. She's such a poorly soul; 5ft 6 and only just hit 7 stone. Although she's gained weight, she is very frail. I worry that she'll break a bone if she falls. She is struggling to tolerate the feeds, even slowly. Dietitian again this week. Nice woman but a bit clueless. I've been reading about TPN and it really scares me. :(

We have been travelling to see all the top names, many of whom you have heard about. Professor Aziz is a hero in our eyes. He is the one who gave our girl hope when she thought she was going to starve to death. So heartbreaking for her. Dr Gall was caring for her but she's being managed a bit better by our local cardiologist now she has a formal diagnosis. We have paid thousands and thousands to travel and get seen by specialists and experts. I would sell the clothes from my back if I had to but oh how I hate that the NHS has failed her, and so many others. Urology is next on the list; DD has been self catheterising for a bit now but she's getting lots of infections and it isn't sustainable long term. She's been fighting this as she cannot bear the thought of a permanent catheter but perhaps there are other options. I'd like her to try a gynaecological physiotherapist first. They've offered so little to her. It's like they written her off already. She's only 18!!

The gut issues have been prominent because she's spent so many months in hospital and at times, has been close to being life threateningly ill. She had urosepsis last Christmas time and was in ITU. I still have flashbacks. I do think she would benefit from a proper diagnosis of the other things that are going on.

I'm going to get her seen at the Hypermobility clinic in london. I will walk to the ends of the earth to get her as well as can be. I know all parents say this but she's such a nice young woman. She's intelligent, empathic, hard working, loyal and rarely complains.

Good idea about getting some more therapy for her. And for me! Perhaps for the whole family.

Thank you again. Nice to know that other people understand. I find it all very hard. I'm navigating complex medical language and difficult doctors who don't seem to understand that I push because I know she can be better than this. I'm not naive but I know she can have an improved quality of life.

It's all been said here already but the other person you can try is Dr Alan Hakim. He diagnosed me and I am a complex case with a form of Type 6 EDS (which may out me). If you're in the south East, once you have a diagnosis you can get referred to Prof Pope's clinic at the NW Thames regional genetics centre, which holds one of the National EDS services clinics. They only take referrals from other consultants there, but if you need genetic testing done they can help (although type 3 is not usually tested for).

Stick with your instincts! I wasn't diagnosed until I was 22 and was nearly in the same position as your DD.

I just wanted to say not to be too scared of TPN. I know it's not ideal and most doctors will see the infection risk of living with a central line as too great, but I know it can be very helpful health-wise.

As a bit of background my daughter is 8 and due to the removal of most of her intestines she is lifelong tpn dependent. We have been living with it as a family for 8 years and although it is not easy she does almost everything.