Hypermobility Syndrome, AKA Joint Hypermobility Syndrome (JHS), Ehlers-Danlos Syndrome Hypermobility Type (EDS-HT), Hypermobility Spectrum Disorders (HSD)

June 30, 2015

How long is your X-file of diagnoses?

See the full presentation here

"Crushing"  "Depressing"  "Devastating"  "Dispiriting"  "Demoralizing" 

People who have been diagnosed with hypermobility syndrome will use these words to describe the pre-diagnosis period. I have seen the incomprehension and incredulity in the eyes of friends, heard it in their voices - it is not that debilitating, it is not life threatening, how has it been so difficult for you as you say it has been?

The mysterious illnesses

How long is my list of diagnosis? It is 27 at present, diseases/ diagnoses from the head to the toes.

I started with chronic pain at the age of 6-7 years, and it never went away. The pain went on worsening, more and more health conditions cropped up with no explanation why it was all happening to me.  People twist their ankles and the pain goes away after a week. Weeks and months and years just slipped by - the pain and the plethora of problems never abated.

Mysterious pains that would crop up here and there for hurts I could not recall, were exasperating. It was mystery for me as to why I had so many diseases while I lived a healthy lifestyle, paid attention to my posture and nutrition, and spent time on exercises. Yet, my body was like a walking encyclopedia of diseases. After a point, you know deep down there is something wrong with you, something no one else can see but that does not mean it is not there. Something does not feel right, and this is a feeling which can be understood only by those who have known it.

The loneliness

What did the people and doctors say to me?
There is no problem. You are fine.
You have so many problems, perhaps you can leave one part of your body out of it (meant as a joke) 
Exercise for your spinal problems (wrong set of exercises too, as I later found out!)
Are you sure the doctors told you these spinal problems, was there anyone with you who can substantiate what the doctors told you?
There is no inflammation, you are fine.
Do more Exercises.
You have very less stamina, you get tired so easily.
You really like going to doctors, don't you? 
They made me feel embarrassed of being sick. They made me embarrassed of not getting well after consulting specialists. I felt sick of my existence.

This is an invisible disability. Activities that are painful or difficult for my body to carry out or coordinate made me appear slow, inept and clumsy. Probably lazy. I could not break into a sprint even if I had to flee for my life. I look hale and hearty and yet found it unimaginably painful to ride in a bus if I did not get a seat. Even the slightest braking and swaying of the bus made my weak body swerve wildly, and as I held on to the handrail straps or stanchions for my dear life, my wrists would be killing me. I could not cook, something I love to do without facing excruciating pain in my wrist. I could not write a few sentences without getting serious pain in the fingers. I spent more than a decade looking at people how they write so effortlessly, convinced that I was using an incorrect method of holding the pen. And even if I was ready to face the pain, I still simply could not lift the cooking pan with its handle if it was above 1 kilo in weight. Spinal diseases limited my mobility, and the ability to travel, do a job, do activities of self-care - clothing myself for example, etc. The list goes on...

The tiredness, the unrelenting health issues and having no excuse for it all creates a huge prison of isolation. As years go by, exhaustion, hopelessness, a short temper and resentment became permanent residents in my heart which earlier used to be full of optimism, hope, compassion, altruism, and patience. Therefore, the period without a diagnosis was more difficult and the diagnosis was a huge moment of revelation-  to know that I do have a disease that accounts for all the 27 diseases.

Here is a list of diseases that are seen as manifestations of or in frequent association with JHS/HEDS. The various kind of osteoarticular (joint related) and muscular problems can each affect any of the hundreds of joints and muscles in the body.

June 25, 2015

How did you get diagnosed?

My story starts with leg pains in my childhood. I was diagnosed in my late thirties when I was living in an European country.

What does a life spent with undiagnosed EDS look like? Read a very touching story here. Since I am in my forties, half of my life is like that story. Perhaps the remaining couple of decades will be physically as bad, but psychologically better, because I know what I am fighting.

Reading the stories of scores of bloggers who have been diagnosed with hypermobility syndrome, one comes across the same things over and over - what a relief it was for them to receive a diagnosis.

JHS/H-EDS cannot be "cured", but it makes a world of difference to people who have it because they spend their life being doubted for making it up, or malingering, or having it "all in their heads", or being just plain lazy.

How were you diagnosed?

June 24, 2015

Why doctors may not help you (and what you can do about it)

This talk by Dr. Heidi Collins is very popular in EDS and hypermobility forums. The term "zebra" is a slang for a surprising or rare diagnosis, and alludes to the quote:
"When you hear hoofbeats, think of horses, not zebras” 
The saying means that a doctor should look for the expected and common causes first, rather than the exotic ones. Doctors often do not know about JHS, which is not at all mentioned in the MBBS level textbooks. Some of the specialist doctors (Orthopedists, even rheumatologists) may know about it but do not believe in it being a serious enough or common condition. Many orthopedists and rheumatologists are not familiar with the recent updates on connective tissue disorders.
Hence the "zebra".

The ignorance about JHS is the greatest hindrance in people having it getting better help. And therefore, it is important for each of us to educate ourselves about this condition and spread the awareness.

[Dr. Heidi Collins has hypermobility herself and is actively involved in treating JHS/H-EDS patients at South Bend, USA]

Child with H-EDS/JHS

A teenager I know from an online H-EDS group had asked me to write this post. I thank her for her inputs. The content has been modified from another post to suit a parental advice post. 

H-EDS/JHS can be a debilitating, disabling and devastating disease for some patients. Some people can have a milder course. It is a spectrum and in my family, we are three people with this disease, but with different manifestations and degrees of severity.

Taking care from the moment of diagnosis can change a child's future. Consult a rheumatologist who understands how serious this condition can be in some individuals. Your child's rheumatologist also should know that instead of waiting to see what kind of course it runs in your child, it is better you get the advice and consultation of a good physiotherapist right now as a preemptive and preventive strategy. 

Personal Example of difficulties a child/ teenager might face:   
I had excruciating shoulder and back ache as a kid from carrying my school backpack. I had severe pain for days on after attending PE (or PT) classes on Saturdays. I had severe pain in my fingers and hand when trying to keep up with teachers writing on blackboard or dictating notes. I had severe pain in my legs in the evening making it difficult to do my homework. My school rickshaw did not turn up one day, and I walked 2 km back to home - and the leg pain lasted for days. As I grew up, I cycled 2 kilometers to school - precipitating severe leg pain and asthma everyday. I had recurrent urinary tract infections (including few episodes of cystitis) since I was ten. I was easily exhausted - fatigue is a problem in many JHS patients. I could not tolerate extreme temperatures, and low blood pressure has always been a problem. As a teenager, I started migraines. I got a subluxation of my jaw joint when I kept my mouth open too wide for too long during a dental procedure. I have recurrent gum problems in spite of good dental care since childhood. As a teenager, my wrists got severely and irreversibly damaged within a matter of two years after lifting water filled buckets daily. I have very poor proprioception (joint position sense) in my knee joints, and without looking in the mirror I have no idea if I am overextending or not. I consciously keep it microbent (flexed) a bit all the time - which has its own side effects, but it lowers the knee pain. I do forget some times, and it precipitates severe pain. I have to be mindful about my joints all the time. Small forgetful incidents where a joint is in a bad position or stressed for some time can lead to pain for weeks. 

Your child might face variations of such symptoms - believe him/her and get proper help. A person with JHS must not do impact sports or high velocity sports. You will need to talk to the teachers as well to ensure they get to do beneficial PE instead of something that leads to pain and damage. Proper fitting completely flat shoes with good cushioning inside as essential. They can damage their wrists by lifting weights like bags if it is done daily or frequently. Some JHS kids also have sleep and gastrointestinal disturbances. They should stay active to stay strong, maintain stamina and avoid obesity. The child should avoid sitting in W position and doing funny tricks with weird joint contortions. They may have problems related to coordination, gait and balance that can affect their education and career choices.

It will help to consult a tertiary center of physiotherapy in some reputable hospital for your child to get  help in these matters:
  • Gait training for walking and standing without overextending joints (like knees for example). They will need training for core stability, core strengthening and posture. They have to learn to be conscious of their posture and what is the right posture. 
  • Know the specific exercises that will help them. They will indeed need to stay active and exercise daily.
  • Learn that they must not go to the full extent of the stretch in any exercise- they need to stop a few cm short of the full range. If they move their limbs to the full range of movement, most likely they will overextend their joints without knowing it. 
  • They must not do the same activity for a long time. If they are writing, stop after half an hour, do some oral or other studies and then go back to writing. Same postures (of hands, fingers, wrists, elbows, shoulders, knees, feet, any part, any joint) for a long duration will go on damaging the ligaments. 
  • When they start using computers, they will need to learn how to use them without damaging their wrists and getting spinal problems. 
  • Swimming is considered beneficial. 
The rheumatologist should inquire about and coordinate the management of other systemic (other than the musculoskeletal) manifestations the child has - dysautonomia, dyspraxia (coordination difficulties), eye problems, gastrointestinal problems, respiratory or allergy related problems, urinary problems, etc.

See these articles/websites to know more about the correct approach to managing kids with joint hypermobility syndrome:



Children's guidelines from BritishSociety for Paediatric and Adolescent Rheumatology

Children with JHS advice sheet 

http://www.skillsforaction.com/joint-hypermobility (excellent explanation)

June 22, 2015

When did it begin?

  • Does your child complain of leg pains, especially in the evenings? 
  • Does your child stoop or has a bad posture? 
  • Does your child have a strange way of running, or avoids running altogether?
  • Does your child find it difficult to sit on the floor or lie down with legs straight?

My earliest memories of pain go back to my primary school days. I started having pain in my legs right behind the knees. The pain would appear in the evening and was quite intolerable for me.

The pain appeared after I walked or ran a bit. I could not really run too well, I always felt I was a bit "off balance". I had an abnormal gait while walking, which was more pronounced on running. I ran in a weird way, so to speak. I also had a stooping posture (kyphosis). I also could not lie down supine with my legs straight out - I had to keep my knees bent. This is an obvious sign of tight muscles, and there is a lot of literature on tight muscles and pain problems in children, even when not related to hypermobility.

My parents had consulted doctors, who gave me calcium pills. I was never examined in detail regarding my posture or the biomechanical aspects of my joints and muscles (presence of hypermobile joints). Growing pains are quite common in childhood, as is hypermobility of joints (with it being the part of a disease). Often small tell-tale symptoms like mine go unnoticed because of these facts. I also have congenital spina bifida, which was diagnosed on scans during my twenties. I do not now if it had any contribution to the pain I had as a child.

The pain stayed till I was in my late teens, and looking back, actually decreased around the time when other more serious musculoskeletal problems started. 

If your child has any of the problems I listed in the beginning, you should consult a good orthopedist and also a good physiotherapy center who are familiar with pediatric physiotherapy, sports physiotherapy and assessment of spinal problems and hypermobility.

I do not have any personal recommendation for any physiotherapy centers in India. However, I have seen relevant scientific articles by the physiotherapy departments of AIIMS and CMC Vellore, suggesting their staff are familiar with these conditions. I have also communicated with a physiotherapist in New Delhi, who said she was very familiar with JHS/HEDS. I would welcome any information from parents who can suggest good physiotherapy centers from their experience.