I’m a newbie and looking for a bit of advice x

[Serena15]

Hiya guys I’m 19 and have been through the mil a bit with my health since starting puberty and only recently me and my family have been wondering if there’s a link with an autoimmune condition. Has anyone experience similar? I’m going to talk to my GP about getting tested for a range of autoimmune conditions.

It all started when I was 11 and I’ve always had excessively clicky joints and one day my right big toe started playing up I ended up being on crutches for 15 months and I had an operation as there was something wrong with one of the bones in my joint. Then at 13-17 I started having sever random swellings of my lips and hands I also experienced skin rashes and Dermatographia. I then had tonsillitis at 14 which lasted 8 weeks and I was very poorly with it so they decided to whip them out.

During this time I also developed bad stomach issues where I would burp sulphur, I was sick a lot and I experienced the most uncomfortable bloating. I also had bad burning stomach pains which would make me curl into a ball. I still occasionally get these pains.

This time last year I was getting tested for asthma as my chest was extremely tight and I was getting really bad chest pains when breathing in deeply ( which I still get and my GP doesn’t really know what it is). However I ended up falling ill at college last April and I spent 2 weeks in hospital as my heart rate was too high and I kept having these strange episodes. My heart rate was 150 in my sleep during one night and I couldn’t brush my teeth without feeling like I’d ran a marathon. I was diagnosed with IST ( inappropriate sinus tachycardia) and I also have a bicuspid aortic valve which is working normally. I have another echo next week and I’m also having a loop recorder inserted in the next few weeks for reassurance. Since all this I’m also seeing a neurologist as I have occipital neuralgia and both my big toe joints have started playing up 🙁

I’ve had many tests and scans but I haven’t been tested for any autoimmune conditions. Sorry for the long post and I’m also sorry if this is the wrong group to post in however I just feel a bit lost with it all!! Hopefully my GP can shed some more light on what could be going on.

Thanks a lot x

[Jay66]

Hi - there are a whole range of health problems which present with an overlap of symptoms. I think getting a referral from your GP to a rheumatologist and other specialists is the way to go at this point. Everything needs to be ruled out. Most people (me included) with hEDS also have autoimmune conditions which complicate the picture and also share the blame for some symptoms. Joints problem and potential autoimmune suggests rheumatologist. If you think you also have hEDS you can suggest the toolkit to your GP rcgp.org.uk/clinical-and-re...

[Serena15 in reply to Jay66]

Hiya, thank you for replying! Il have a look at that link. there’s so many symptoms which overlap so fingers crossed it won’t be a really lengthy processes of getting diagnosed 🤞🏻

[cyberbarn]

In addition to Jay's excellent recommendation to use the RCGP toolkit, you might want to remember Hickham's dictum: Patients can have as many diseases as they damn well please.

You have enough symptoms to think that this is EDS, but EDS is not the only connective tissue disorder around, there are many others as well. And you could also have an additional condition. It might be autoimmune, but it could be other immune conditions too. So definitely keep trying to get closer to what is going on, and hopefully things will be come clearer soon.

[Serena15 in reply to cyberbarn]

Thank you for replying! There’s so much online it’s all a bit overwhelming especially as symptoms overlap one another. Thank you so much

[jindakay]

Hi Serena15,

You sure have been through the mill! Many people, including myself, have a variety of symptoms/medical issues very similar to yours. I have been diagnosed with Hypermobile EDS by a clinical geneticist. Because so many hEDS patients also have mast cell disease I was prescribed daily antihistamine as a preventative and treatment. Like you as a kid I had dermatographia, typical of cutaneous mastocytosis, which can cause a variety of other symptoms. I also had a tachycardia event so extreme that it caused a headache and EKG to show signs of a heart attack but a cardiac workup proved normal heart function without heart attack. Gastrointestinal issues like hiatal hernia, GERD, slowed gastric digestion/motility and gall bladder disease are also frequently suffered by hEDS patients which is why I was prescribed 24 hour Zantac, now replaced by Pepcid. The occipital neuralgia/headaches arising from loose and strained cervical ligaments, maybe also with cervical spinal problems are also typical. I’ve been diagnosed with chronic migraines, cervicogenic, ice pick, tension headaches, occipital nerve damage, compressed vertebrae with herniated discs, nerve root irritation, and radiculopathy. Of course, I do have orthopedic problems like premature osteoporosis, osteoarthritis, and a resolved frozen shoulder. Then there are significant vitamin deficiencies and fibromyalgia I have to treat.

But all of these ‘comorbidities’ are known to coexist with EDS and are often progressive. To my disadvantage I was told that my clicking, snapping joints were no problem.

So it’s not only reasonable to get a valid hEDS evaluation, but rather prudent. With a diagnosis there’s much you can do to take best care of your health now which will allow circumvention of disability later on.

Good luck!

[Serena15 in reply to jindakay]

Thank you so much! It’s reassuring to hear others who have similar symptoms!! Throughout my school years I’ve always been the one with something wrong and I also always had sprained wrists/ ankles. Since finding out I have a bicuspid aortic valve it has also made me think more towards Eds as apparently people with a BAV have stretchier tissue therefore the link with a connective tissue disorder.

The gastrointestinal issues you mentioned are very similar to what I experienced as the pain I get is a dull burning pain at the top of my stomach more towards the right.

Do you mind me asking how long have you been diagnosed for and what your initial symptoms were which made you go to your doctor?

[jindakay in reply to Serena15]

Hi again! I’ve been diagnosed for 4-5 years.

While watching a show on TV, Mystery Diagnosis, I began to see similarities between myself and the character finally diagnosed with EDS. It was the symptom of migraines which drew me in as I’ve had them my entire life. In fact some of my very earliest childhood memories were excruciating nauseous headaches with vomiting.

So I began an online search of each of my varying symptoms/diagnoses “and Ehlers Danlos Syndrome.” The matchup was almost perfect. Then I did the same with my children and parents. Once I was pretty sure of an EDS diagnosis for myself and children inherited from my mother via her mother, I made appointments with a rheumatologist and clinical geneticist. The rheumatologist was uninformed about EDS, but did diagnose Fibromyalgia. Finally the geneticist diagnosed my children and me with Hypermobile EDS.

Since then I’ve been able to associate almost all of my old and new medical issues as existing ‘comorbid ‘ with hEDS. The same is true for my kids. I still use the same method of researching my family’s medical histories and almost always find that there is a strong positive relationship which I find interesting, reaffirming, and sensible to my family and self.

:))

[Serena15 in reply to jindakay]

I’m so glad you managed to get to the bottom of it!

I went to my doctor yesterday asking her if she thought any of the issues I have linked with one another and she didn’t think so , I asked about Eds and she said she doesn’t think I have Eds but she thinks I should tell my cardiologist about all the other issues and he might be able to link the conditions.

I also told her about my toes playing up and she thinks I have arthritis in one of the big toe joints as I have a bony growth on top of my foot called a hallux rigidus ... so I’m going for an X-ray this week and have been referred to the foot specialist. I wasn’t expecting to have arthritis at 19!