Hypermobiliteit the search for a treatment (story of mother)
The story of a mother of two daughters with the Hypermobility Syndrome.
Names are fictitious for privacy reasons.
Much praise for Bugnet and a pair of wonderful physiotherapists!
Both my daughters Lieke (16 years old) and Anne (13 years old) were diagnosed with EDS.
Lieke's first symptom was pain in her Achilles tendon 6 years ago when she was 10 years old and we were referred for physiotherapy.There was no result after ten sessions. We were then referred to a podotherapist who made inner soles to measure for Lieke. However the symptoms remained and even spread to both Achilles tendons. Our family doctor advised us to continue to visit the physiotherapist. Other shoes, high or low heels, gym shoes, nothing helped. After a couple of months Lieke's knees started to hurt as well.Cycling to school was no longer possible. Badminton as a hobby was cancelled. The physiotherapist still treated her twice a week but no improvement could be seen.
After a couple of months we pushed our family doctor for a referral to the paediatrician who examined Lieke. However nothing could be found.We were referred to the orthopaedic specialist, who got no further in his diagnosis and referred us to a children's orthopaedic specialist. This doctor's conclusion was 'overuse' and he put Lieke's legs in plaster casts for four weeks but the symptoms increased and the children's orthopaedic specialist ended the consultation and referred us to the rheumatologist.
The rheumatologist took blood and did a bone scan. Again nothing was revealed here either and we were referred back to the paediatrician.We had a consultation with a neurologist because the paediatrician still could not find an obvious cause. He ruled out any muscle disease after an examination. We could go to the sports doctor.The sports doctor could not find anything.
The physiotherapy exercises Lieke did only caused her more pain.
Our daughter became more and more isolated. Cycling or hobbies with girlfriends were no longer possible. She was no longer able to visit girlfriends because she could not cycle or walk. Gym lessons at school were no longer possible. The symptoms frequently met with a lack of understanding from acquaintances. After all nothing could be seen on Lieke and a diagnosis was still to be made.
Then, after about two years, the first subluxations occurred. The first subluxation was in Lieke's hip.We asked our family doctor for a referral to the rehabilitation specialist. After seeing so many specialists we did not hold out much hope, but who knows.. and after a physical examination the term hypermobility was mentioned. Lieke proved to have an abnormality in the structure of the connecting tissue which meant that there was too much play in the joints.We went home with this diagnosis and started to research further. And, at last, it seemed that after four years the correct diagnosis had been made - all the pieces of the puzzle seemed to have fallen into place.
Lieke started to be bothered more and more by subluxations of all sorts of joints. Wrists, knees, hip, shoulder, jaw, ankles, vertebra that shifted, you name it, it happened a couple of times a week. Enormous pain during these subluxations, but also chronic pain from over-extension, were the order of the day. Lieke could not sleep more than a few hours each night due to the pain. She took Paracetamol and eventually Brufin 600 as well but the pain only eased off slightly. In addition we as parents had the feeling that we were being a bit "hit-and-miss".
It is not nice to fill your child up with medicine without a clear policy. As parents we felt powerless: so much pain and medicines that only helped a little.
We found ourselves in a downward spiral. Lieke wanted to but could move less and less.Sport was not possible because of the pain. Any normal movement, even putting a fork in her mouth, caused her joints to dislocate. We tried swimming for while. We and the rehabilitation specialist thought this to be the least aggravating. When Lieke suffered a subluxation of her hip during swimming and could not reach the side, we were very glad we could fish her out when she threatened to sink to the bottom of the swimming pool. Swimming proved to be unsuitable as well and certainly not safe without supervision.
After waiting for months, cycling was still not possible. Taking and fetching her to and from school every day could no longer be combined with our work so we applied for school transport via the council.
Lieke was taken to school every day by bus to her great sorrow as the other passengers used this type of transport for reasons not purely physical, it was clearly a different target group.
Lieke received various braces via the rehabilitation specialist. She could use these splints after a subluxation to prevent the joint subluxating repeatedly. Anything we asked for we received, but we did have the feeling that we had to chase up everything ourselves. When a new joint subluxated it took a couple of weeks before an brace was available or measured. What we saw as parents was sometimes heart-breaking. We had our backs against the wall when it emerged that the order for a normal, unadapted brace would take three weeks. Sometimes the same joint would (sub)luxate six times a day. This happened once with her hip so that she could no longer stand up or walk. Even going to the toilet was no longer possible. She had to crawl for three weeks!! Unfortunately the brace could not be supplied any quicker according to the instrument maker. After lots of ringing around (and endless nagging) we are now so familiar with the braces world that we often buy these devices ourselves from the wholesaler when there is an acute problem. The health insurance pays for the braces when we send them the referral from the doctor. Once bitten, twice shy and we have become much wiser.
And time passed by. By now Lieke was so weak physically that you would have to call her a "bed-chair" patient, as sad is it sounds.
We asked the rehabilitation specialist for a referral to an anaesthetist because you continue thinking about and fighting for your child. Although the subluxations could not be regulated with pain medication, we thought this doctor could do something for the chronic pain symptoms.We asked him for a TENS device, which we could use after a subluxation. Although the anaesthetist had never prescribed the TENS for this type of symptom, we could try it to see if it could offer Lieke relief. The TENS device did offer Lieke short term relief after a subluxation. The doctor prescribed Zaldiar for the chronic pain, that she has to take structurally three times a day.
The above led to the chronic pain becoming bearable for Lieke. However the subluxations continued one after the other. She had a lot of pain despite the TENS and was consequently hugely limited.
We, as parents, were busy with our child twenty-four hours a day. We had to pick her up from all over the place, we found her on the street, on the ground, in the garden, at the bottom of the stairs, at school. Even in bed at night her joints would (partially) dislocate. This was of course accompanied by incredible pain. We often had to visit our family doctor and the out-of-hours service. Lieke could put most subluxations back by herself or with our help or help from friends and family. It was clear that Lieke's muscles had to be strengthened so that they could take over the functions of the joint capsules that are too supple.
The question remained…. how??
Her joints dislocated almost immediately during physiotherapy exercises, even in water.... end of exercise. Try again next week…
Although I take the liberty of calling our family optimistic, we were gradually reaching the end of our tether. In the meantime Anna, our youngest daughter, had become 12 years old and slowly history appeared to be repeating itself. She also complained about her Achilles tendons, knees, etc. We made another appointment with our family doctor and were referred for physiotherapy. Yes, it could be a coincidence….. we of course hoped so, but nothing was further from the truth. The diagnosis for Anna was reached by the rheumatologist in collaboration with the rehabilitation specialist much quicker because it was so clearly recognisable to us as parents and family.
Out of pure desperation because not one single sport or exercise was suitable for our children, I thought up a couple of exercises myself whereby the children's muscles were tensed but did not need to be "hinged".
As a layman I, of course, did not get very far. It was clear to me that something had to happen NOW!
And then I came across the Bugnet method site on internet. I contacted the physio- Bugnet therapist by telephone and, for the first time in years, I finally had the feeling that I was talking to someone who really knew a lot about our children's disorder. We arranged to bring the whole family to the physiotherapy practice in Wassenaar in March 2010 and received instructions and exercises for our children to do every day with our help. From the moment we met this physiotherapist at the physiotherapy practice in Wassenaar, she has had intensive (mail) contact with our physiotherapist. The team was instructed by means of photos, literature and so on. A colleague and the physio- Bugnet therapist even came to us in person to teach the team. The practices consulted with each other about all the changes and the extra exercises.
One year ago we started exercising according to the Bugnet method. A lot has happened since then. After consultations the children were referred by the rehabilitation specialist to the clinical geneticist in the hospital in Nijmegen. The official diagnosis of EDS was made there.
Naturally the disorder has not gone away and the children cannot do as much as other healthy children. Our eldest daughter's joints (sub)luxate about once a week now which is quite different to six times a day! Our daughters have a number of braces which they always carry with them. After a subluxation they usually use the TENS device for half an hour and then put the brace on. They leave the brace on for a number of days depending on the stability of the joint.
Our youngest daughter has been very lucky by being able to start the Bugnet method at quite an early stage. She has about one subluxation every six weeks.
School transport was stopped in August 2010. Both daughters now cycle to the bus stop about 2 km from our house on electrically-assisted bicycles and then travel by public transport to school. It is a wonderful feeling to see my two daughters "just" cycle away on their bicycles every day even if they are electric; cycling on a normal bicycle is not yet possible: they would have to use so much force on the pedals that the hip, knee or ankle could dislocate. My daughters can move increasingly better. They can for instance pick up a bucket of water without their wrists dislocating, they can take the dog out for walk. My eldest daughter even has a part-time job as a waitress in a restaurant!
They visit the physiotherapist once a week. She supervises the exercises which the children do themselves every day at home and she now also visits the sport school with the children once a week where they exercise on the fitness apparatus! Every couple of weeks consultations are held between the physiotherapists and with our children if necessary. About once every six months we go to the practice in Wassenaar for a check-up, extra exercises and evaluation.
After years of worry we now have the feeling that there is at last an improvement in the whole process. During our last visit the rehabilitation specialist was pleasantly surprised with our children's results and is also finding out all about the Bugnet method. It is clear to us that without Bugnet and the two teams of wonderfully cooperative and stimulating physiotherapists, the quality of life for our two children would be quite different. I hope that this story can help other patients or family members.