My daughter (15) has bee recently diagnosed with EDS. She is very hypermobile. She also has symptoms of POTS, and will go through testing soon. Her pituitary was tested, and the results were normal.

She is my only natural child, and I am wondering how the two of us could have entirely unrelated rare medical disorders. It feels like there must be a connection.

I do have copies of all of his medical records and will go through and locate the height/weight and head circumference measurements. I’ll check out the sites you mentioned and look for you at prettyill.com. Thank you so much for your efforts.
Diane P. in Cincinnati.

Medication to reduce the CSF pressure is even prescribed for babies (see references #4 and #8). You may want to pop on the forum on Prettyill.com and ask some questions from other moms and patients. You’ll also read about how this high pressure can cause delayed development. We’ve always thought delayed development was from loose joints, but maybe not, or maybe not in every case.

I would recommend that you take your son to a mast cell specialist who understands the link between mast cell disorders and EDS. The only two I’m aware of are Dr. Castells and Dr. Akin in Boston. If your son has mast cell disorder causing his breathing issues, there is a chance that he won’t need to rely on steroids (which can reduce his immune system and stunt his growth). Mast cell treatment is much more benign. My son and I had difficulty breathing, but I KNEW I didn’t have asthma and was tested for it — it came out negative. Meanwhile, some antihistamines (H1 and H2 blockers) and mast cell stabilizers took care of it in about 2 weeks. No exaggeration. It’s amazing what the proper diagnosis and medication can do!
By jumping on this quickly, I believe you will save you and your son from the many complications that we try to “fix” later, after neurological damage is done. That is my gut feeling — speaking to you as a mom with two affected children. Please keep us posted, and this thread is getting dated. For the latest, you’ll find me at Prettyill.com. See you there!
Gentle hug,
Dr. Diana

With his new diagnosis and your article, I’m thinking I may have reason to be concerned again. While he has been quite conversational since about age 2, and is considered intelligent, he seems to struggle at times with memory issues. An example, while helping me put dishes away, he went to the wrong drawer, and then, a little embarrased, kind of laughingly told me he forgot where the utensil drawer was. When he was younger I remember he’d forget some of his favorite character names. Bob the Builder comes to mind. He would forget obvious things that made me think twice at the time. It may be totally normal for kids his age, but he frequently forgets where he put things just a few minutes before, etc.

I don’t even know if they have what is considered normal head circumference measurements beyond age 2 or 3 when they seem to stop tracking it. But I’m wondering if we should look into the possibility that you raise in your article of hydrocephalis as a side effect of EDS Type 3. To quote your article:
‘ External Communicating Hydrocephalus, often in conjunction with CCSVI
(chronic cerebrospinal venous insufficiency), is hypothesized as the cause of the constellation of cranial nerve signs and symptoms, endocrine abnormalities, personality changes, cognitive decline, extreme fatigue, left ventricular diastolic dysfunction and brain atrophy in the Ehlers-Danlos Syndrome patient population.’

He’s also pretty irritible at times, tires easily and doesn’t tend toward a lot of physical activity. You mention delayed milestones and he was about a month ‘late’ for most of his milestones. Your research seemed to be with mostly adults. I obviously would have concerns about anything that might cause a cognitive decline in my young child so would not want to discount this, if it is indeed a possibility. On the other hand, would not want to introduce a drug, which you indicated helps in this situation, if it is not necessary. My sense after our initial visit with his EDS doctor was that this was a joint issue. I’m surprised that it can also potentially affect cognition eventually. Obviously we would want to do whatever we could do to prevent this symptom or side effect if at all possible.

Would you have any suggestions of how we might pursue this to find out if he does have issues with CNS fluid drainage due to EDS?

Sorry for the length, but you mention mast cell disorder in your artile also and I’ve hit on that previously as possibly contributing to his asthma (before the EDS diagnosis) and I’m wondering if there has been any research or you have any knowledge of whether EDS patients with asthma might be more likely to benefit from mast cell inhibiting asthma drugs than the general population?

Thank you for the wonderful service your are providing.

I feel like such a stupid American! I don’t know where a hotbed of geneticists in EDS may be in your neck of the woods. I located mine by plain old calling around and asking everyone I knew, and looking at where the latest research was coming from.
You can call teaching hospitals and get a feel, and again, you may want to ask some of the folks on EDNF.org.
I wish I made it out of the states more often!!
Please let us know what you find, or perhaps someone reading this will have some ideas for you.
Dr. Diana

I will try in Europe first, it’s closer and cheaper. I hope doctors are informed at the same level in USA and Europe.
What European country is more progressive in this field (reumotlogy, genetics, loose joints)?
Is it Germany, Russia, UK? ..or some other country?
or is USA an absolute champion in this field?

Baiba

First thing I would like to ask you is – how to make a firm diagnoses? Which doctors should I visit and who could you recomment me. Is it enough with reumatologist/orthopedist? I have been diagnosed with EDS III by prof. Bird in UK (I know he is one of two best specialists in this field in UK but even though – I question his diagnose!) I visited him 3 times, on 2nd time he told that most probably it’s EDS III and after excluding some more serious conditons he confirmed that it’s really EDS III. I feel like many people got this diagnoses only because their joints are falling apart and there is nothing what could be found with bio-chemical of genetic tests. Like…I don’t know whats’ wrong with you, because analyses are fine. You should have EDS III. Is it not truth?

There are so many details why I can’t trust this diagnoses like:
- nothing in childhood, till age 15
- nobody having joint disorder in relatives
- only my fingers are flexible (knees, bending forward and other Beighton points I can’t score)
- I tried hormones (oestrogen) according to prof Bird’s assumption that it should stabilase joints (even a little bit) – but there was no efect of it
- One side of my body is much more affected than another (myophia with right eye, descended right kidney, back muscles week on right side, ribs slipping out on right side etc).
- There is constant progress of loosening joints and it’s progressing with the same speed during pregnancy as it was before
etc etc

What is your opinion dear Dr Diana, have you seen patients who got wrong diagnoses? Should I continue to search and if yes, what doctors would you recommend to me?

thank you for your support and courage in figthing with this disorder. It is extremely supportive to find people with similar problems!

I’m not sure how far along in your pregnancy you are, but it takes little or nothing for my ribs to slip out of place — and I don’t have a baby inside pushing everything around!
Can you tell me how you got your diagnosis? I agree with you that your case doesn’t sound “typical”, but none of us are very “typical”! Are you in a lot of pain? Pain is very common with Type III. There is never harm in getting a second opinion (except for the cost!), if you have any doubts.
I remember telling the doctors that I never had any symptoms prior to age 46. But as time went by, I was able to remember incidents that should have been clues, not to mention photos that showed my hypermobile knees. But I, too, was big into exercise and it helped keep me together.

You may need to wait until your hormones have settled down after the baby is born to have your flexibility checked with the Beighton scale (did your doctor do that?). And you were right to question your family members, too. Are any of them hypermobile?
BTW, have you seen those velcro binders that go under the baby bump and velcro together in the front or behind your back? I had to wear one of those every day, and it was a huge help. I think I was loose enough that everything needed a boost to help me fight against gravity.
Baiba, please hang in and know that you have an excellent chance, with proper treatment and time to get through pregnancy and recovery, to turn this into a mere annoyance. Keep us posted, as we’ll all likely have some suggestions for after the baby is born!
Gentle hug for you and baby,
Dr. Diana

I am 32 and diagnosed with EDS III recently. I am very desperate most of time because my body starts to fall apart. I am pregnant with my first baby but i am afraid not be able to bring him up.
I am questionning my diagnose, I can’ t believe I have it because my relatives does not have any joint disorder at all and because all my childhood till age 15-17 I had extreemly strong joints (I could run for 10 miles, work-out in fitness, do weight-lifting because I was rowing). Most of things started after age 15-16 when I got meniscus surgery.
Could it really be that EDS hypermobility starts so late and there are no signs in childhood (i questionned my parents in details about my motor development – crawling, walking etc. I did not have any “misterious” pain, I did not miss any day at school till age 16 because I gad excellent health)?
Could it be that EDS hypermobility most problematic area is rib cage (it starts to deform because ribs are slipping out)?
Could it be that there is non-stop progression during 15 years?

Please, help me answering these questions! I am searching so much through internet but there is no-one who can answer.
Most of doctors even don’t know such a disorder – “you just have to accept your condition” is answer to most of my questions. but I don’t want to accept, I want to live!