Impact and stories Real life stories HMSAware - Rare Disease Day 2020, Zoe's story, Arthrochalasia My EDS Story – Zoe Lewis I have Ehlers-Danlos type 7 - Arthrochalasia, there are believed to be around 40 confirmed cases in the world which I suppose makes me pretty rare. Ehlers-Danlos is a connective tissue disorder and there are many types that share some complications. The severity of the illness can vary greatly from person to person and type. I have known all my life I suffered from this rare syndrome. When I was born my Mum said she knew I would be trouble, born breach like a small package all parceled up, arms and legs and head folded in like a ready-packaged chicken, little did she know! My Grandma commented I looked like a Pekinese dog which sounds funny but actually I had a very tiny little face with big eyes, but my skin was so loose and wrinkly like I had skin two sizes too big. It was said at first that I was very overdue, but it turned out not to be the case, I just had the cutis laxa type appearance of wrinkly see through veiny skin all over my body. I was a non-thriving poorly baby, with very blue whites of my eyes, very lax joints and floppy and it became apparent very quickly that there was something wrong. My Mum recollects that in the early days they were never told the true full picture, but snippets. I had scoliosis and congenital bilateral dislocated hips and clicked in every joint. At 12 weeks old I was put into a solid frog plaster cast, which was changed every month under general. This was very difficult for my parents, as they had to watch me in pain having to starve to have the general anesthetic. It’s funny because when I look at pictures of myself as a baby precast I am gaunt, dark rings under my eyes and look very ill, after casting I look like a completely different baby. It took 9 months for my hips cast to come off. I walked at 13 months old despite my parents being told that I may never walk and if I did expect it to be very delayed. I defied the odds. As a baby I was seen by multiple consultants, all had an interest in different parts of my body. From early on and throughout my life I was prodded poked and stretched to see what I could do. I was extremely bendy and could contort my body in all sorts of positions, I have stiffened up a little but still, I am told I am very hypermobile. With EDS the collagen is defective; collagen makes up 80% of the body and for me effects most of the body's systems. My hip joints and vertebrae as a baby were non-existent and grew, my scoliosis as a child was bad but as I got older it began to improve. I had no idea later in life my back would degenerate. As I moved into being a toddler I had a lot of injuries, I was always covered in big black bruises and would dislocate my joints a lot. I also had a lot of nosebleeds and when I fell or hit my body, the slightest tap would cause my skin to split open, resulting in another trip to the hospital. My Mum says I clicked and clunked in every single joint, she could not hold me without joints slipping out. Early on my parents were told that I had a syndrome known as the Indian rubber man syndrome or EDS. At that time not much was known about EDS and they were left to get on with it. Consultants were always very good to me but I never was told the whole picture. I was always surrounded by trainee doctors wanting to sneak a peek at what EDS looked like. I had photos taken for journals to help educate medical professionals. I spent a lot of time in and out of the hospital as a child not only with back, hip, joint issues but also with stomach and kidney problems. I was an extremely sickly child who would not eat for weeks on end, the doctors believed I was internally bleeding and was suffering but couldn’t tell anyone. My parents were I must add extremely lucky that the consultants that took care of me knew what was wrong, as I am sure constantly being in A&E with bruises and injuries from head to toe could have posed issues. I often dislocated vertebrae and went into spinal shock; these were the worst times for pain for me as a child. Despite being constantly ill with EDS and constant viral infections I was a very lively outgoing little imp. I was tiny weeny as a child, part of my type, so at 5 I looked like a 2-year-old. Arthrochalasic types are small in stature compared to other types. I am 4 ft. 8 now; we are known to have dwarfism type stature. Arthrochalsia type A and B diagnostic criteria take stature and congenital hip dislocation into consideration when diagnosing, however, a biopsy is the only true confirmation as other types may be born with dislocated hips. My parents were told to wrap me up in cotton wool as a child but I was so feisty and outgoing my parents learned to play it by ear and see how I coped with activities. I believe they did the absolute best for me in this way. They didn’t want me not to experience what others did, and it allowed me to decide what I could and couldn’t do for myself, I usually learned the hard way, on the trampoline one time only, collapsing in spinal shock. I learned very quickly pain sometimes was not worth it! I never had the advice not to do contact sports until I was a much older child, and actually my frame despite the injuries made me very good at running and gymnastics in the early days. I soon had to stop! Although I loved disco dancing, as I seemed to be able to move like no other kid, so EDS did have its advantages. At primary school, I missed in total 2.5 years of schooling but I still loved to learn. I did have a lot of injuries and learned to pace myself. I had to wear special shoes and insoles to keep my ankles from pronating. But no other splints were available for me, so I would often have bandages and tape around my body parts. Bouts of glandular fever, kidney infections, viral infections, chest infections, hearing loss from infections, meant that I was forever ill and my immune system seemed to take a real battering, my blood results were always out of kilter. One of the other complications of EDS for me was my very fragile degenerative teeth, they cracked, decayed and the dentine flaked off, despite my roots being the opposite, calcifying to the bone and other teeth, which in itself caused issues for tooth extraction, every tooth had to be taken out in hospital under General anesthetic and twice this resulted in a broken jaw, and bone broken through to my sinus. I couldn’t eat very well as my top jaw never grew which meant there was a 2.5-inch underbite from top jaw to bottom. I was referred to consultant care at my local dental hospital to try and come up with solutions for me. At age 12 after 4 years of braces, treatment of every new procedure and wire known to man, including space station technology, I was given a denture over my teeth to help me, as my teeth roots just would not move. This really helped to stop my face caving in and help me eat. I was ecstatic, although I hated having to wear a denture at the age of 12. Age 11 onwards is where my health declined the most, I started to have heart issues, kidney complications, and I was 10 months homeschooled because of months of pyelonephritis. I had a lot of extra internal complications, such as urinary reflux, urgency, and retention of urine, mitral valve prolapse/ heart murmur, POTS, costochondritis, lots of joint issues and pain became a real issue. It was because of collapses and admissions to cardiology departments that it was felt that I should get genetic testing and see a world specialist in Ehlers Danlos syndrome, there were concerns over bleeding, veins and heart problems and the general look of my skin and vascular complications which were thought to point to vascular type EDS. I saw the consultant several times and biopsies were taken from Mum, Dad and myself. My siblings were also examined and the family was all found to be able to do the Beighton scale and were hypermobile. After months we got the news that I had 7a/ Arthrochalasia type EDS, a new form which was recessive as my Father and Mother both carry a defective recessive gene of which I had inherited both from each, lucky me !!!!! So, relief for my family that at last, I had a name to my condition and all the strange symptoms and complications were due to this. From age 11 to today I have suffered day in day out, I cannot say I have experienced one day pain or exhaustion free, this sounds a really dramatic thing to say but for me, it’s just the normal (as it is for many sufferers of EDS of all types). In adulthood I continued with terrible bouts of infections, shingles, glandular fevers everything going I caught, complications got worse with, dislocations/subluxations, cases of pneumonia, asthma, scarred lungs, POTS flare-ups, kidney problems, heart problems, stomach ulcers, severe allergies/ mast cell issues, stomach complications, menstruation problems, teratoma ovarian cyst, countless knee, and abdominal operations to name but a few. At 23 after spending 3 years at university and working I became very ill and bedridden. I believe at this time the autonomic dysfunction part of EDS became worse, little was known in the ’80s/90s about such complications. Overnight I had a horrific migraine type headache with numbness down the side of my body and in the morning I could not walk, had changed sensation in limbs, my brain seemed to not send the correct messages to my body, and it was quite shocking. I got many opinions over the years on what was happening to me, from fibromyalgia to M.E. to CFS to autonomic dysfunction of some kind. To me it really didn’t matter what the name or diagnosis was, whether it was as they believed part of my EDS or not, I just knew I was very ill and needed treatment. I could not feed myself, lift a cup, sit up for longer than 5 minutes at a time without being dizzy, falling asleep and generally feeling so dreadful, I vomited 5 plus times a day and would look a beautiful colour of green. My joints and dislocations were worse as was my memory, coordination. All my systems seemed to say I’ve had enough, and so at 23, I was totally reliant, wheelchair dependent and bedbound. It took 8 years to manage to build up with small /tiny bits of physio and rehabilitation. I had become very weak and had muscle hypotonia. Everything was 5 times harder to do. With EDS our bodies have to work hard to do the normal things people take for granted, like standing and walking. Daily chores make you exhausted and cause severe fatigue, along with joints that never do as they are told. I suffer from spasms and twitches, falling and stumbling which is due to dysautonomia. I did manage at 30 with a lot of determination to be able to get back to work, I would have liked to have done something with my degree but just working part-time again gave me such pride and made me feel like I wasn’t a drain. I always felt awful having to claim benefits even though I didn’t have a choice. I hated this time of being bedridden, being totally dependent on others. I still stayed positive and kept myself as cheerful as possible and used art to help me to keep motivated. Once I started work even though I was fitter physically the illness and complications carried on. I think I learned to cope well with the constant agonizing pain EDS causes and just try and focus on positive things. For me I feel lucky, this seems a really bizarre thing to say after writing some of what my illness has caused. But yes every year I seem to pick up a new diagnosis, with Gastroparesis and worsening autonomic dysfunction, neurological complications and now rheumatoid arthritis, but because this has been a gradual process of adding illness after illness I don’t see the whole picture. I just cope one day at a time, work hard and try and enjoy my life as much as I can. Staying positive is so important to me when people say "wow you have been through a lot" I always tell them ‘ I have excellent eyesight 20/20 vision, not everything is bad’, and laugh. I have learned to pace myself, bracing and acupuncture and the right medications for my complications have allowed me to keep working part-time as a lecturer, of which I’m so proud and grateful. I try every day to focus on my work and what I can do, however small. I have to have days in bed completely flat out not able to do anything, my body at times gives up on me. I do have a very good team of doctors looking after me and I am for the first time in a place where I can be me, accept what I have fully and know whatever happens to me I can get through it. I have learned I need to take it a little bit easier, after breaking my back last year and tearing discs, osteopenia and osteoporosis can be a complication of Arthrochalasia type. People are always telling me how stoic I am. I put that down to having amazing parents who taught me to cope, whatever. EDS is very hard to live with because its complications are wide and varied and can stop you in your tracks, but I have found a lot of EDS sufferers have the ability to be very resilient despite it all and live a good life. We as sufferers have an excellent community and the HMSA has been invaluable in bringing us all together as has social media, it has changed how sufferers communicate about their illness and provided great support for all of us. Something that was not possible for me as a child and late teen. I wish for the future that doctors, schools and medical professionals will take time to understand the condition and realize it is not just about being bendy/hypermobile, doing tricks and having stretchy skin. It is actually a serious syndrome that can cause the sufferer to be completely debilitated and should be taken seriously. It is difficult because people with EDS, whatever type, usually look completely normal there are signs if you look for them but it takes a keen eye!