NATALIE KADE AND MICHAELS STORY

I would like to introduce you all to a good friend of mine, she lives in USA and is a fellow type 7a Arthrochalasia EDS, as there are only thought to be 40 of us in the world we get very excited when we find each other! I do believe there may be more of us, but without a registry of sufferers and more research on how exactly we present, and whether we are spontaneous mutations, or heritable we will never know for sure how many sufferers are out there. My parents both have the same defective gene as me, they have one each, I have inherited their two. My Dad and sister both have EDS, my mum is undiagnosed but is most definitely EDS too.

So my friend Natalie is another tiny feisty lady, born with congenital dislocated hip, she spent the first few years of her life very poorly , bruised all over , with limb deformities. Sadly due to misunderstanding of her condition Natalie was placed into foster care, it was only when the foster carer realised that Natalie was not presenting as a healthy child that Natalie was sent to medical professionals to be assessed. With our type and one of the only types, we also have bone involvement, meaning our bone is either osteopenic or we have osteoporosis, meaning we break bones easily, the gene defect is on the same defect as osteogenesis inperfecta, so a lot of us have the bone fragility too. We present with severe bruising as young babies and children and are often covered from head to toe. This can be misinterpreted as it was in Natalie’s case, with her many abnormalities, breaks and bruises. I was lucky. Consider a sick baby being taken off her parents due to the signs. I was forever in and out of hospital with injuries of dislocations, spinal injuries, bruises etc. Once Natalie was diagnosed there was a greater understanding of her condition. Medical professionals when they see us tend to panic, so rarer types parents are often told their child will not walk or make it to adult hood, have children etc.

Throughout life Natalie has suffered a whole array of serious medical conditions and has had so many surgeries she has more metal work in her body than anyone I’ve ever seen. She has full spinal rods from kyphoscoliossis, this is also a sign of our type, spinal deformity is common. Natalie has neurological problems and has regular brain scans due to abnormalities. She has heart defects which are regularly monitored too. Natalie is an amazing lady, recently she gave birth to her third child, child birth for us is extremely high risk and can lead to many miscarriages and heartbreak.

Natalie’s pregnancy was always going to be extremely high risk, for the baby and Natalie. With risk of membrane rupture, risk to Natalies physical health, her heart, spinal complications for fusion/ rods etc, but also the high instance of the baby also inheriting her condition.

At scan Natalie and her partner were told abnormalities could be seen with the baby. Natalie came onto the FB group to talk through what they had found and to try and work through their concerns. I can not begin to understand how they both felt, what went through Natalie’s head at that very moment, blind panic, upset to be told your baby has some physical abnormality, devastated, but wanting with all her heart for this baby to be okay, to keep it safe, whatever the disability. So the words of support and this is where awareness comes in, people gave practical advice, gave support, supported Natalie to know that as a sufferer of EDS she was in the best position to understand and cope with her daughters abnormalities, whatever they may be, and to embrace her as the unique fantastic baby she is. It gave me the insight into how my parents must have felt and what they must have gone through the moment they were told about me, Something I’d never considered, how devastating they must have felt.

Natalie and her partner were prepared for the high risk pregnancy and were taken through the future for Baby Kades birth. Talking to others with EDS and EDS children is an important part of understanding, really understanding what you may face. I wanted to introduce you to Kade who is currently going through testing for Arthrochalsia EDS, Kade shows all the signs of the type, being like her Mummy on the severe end of the scale. Natalie has allowed me to share her and Kades life to hopefully show others what Arthrochalaisa EDS is like, we rarely have pictures of how babies present and the level of hypermobility at birth, we are floppy and can contort our bodies. Some of us have very stretchy thin wrinkly skin on our bodies which is also a sign. A lot of the signs will only truly show on radiography, but the level of floppiness is still something that Drs don’t seem to recognise for us. For that reason it’s important to know that in this type it is severe laxity and hypotonia. Kade is currently going through casting of her knees legs and ankles to manipulate the joints into the correct positon, she has club foot and has just been through her first surgery, a heart wrenching time for her parents and for all of us who feel we know Kade so well and love her as our own very special EDS baby. Shes a bright giggly bright spark, who is taking everything in true aEDS style , in her stride. Kade will have her hip dysplasia operated on next, spending at least another 6 months in cast and years of physical therapy, the success will depend on the ability for her very weak fragile collagen to hold the joints. Poor wound healing is another massive issue. Kade has had bad sores from the casts and has been suffering extreme pain. The future is uncertain whether Kade will walk, this is something aEDS have all faced. We all hope and pray she will. As Kade gets older the extent of her condition and complications will become more apparent, she is already suffering from chronic pain and gastro esophageal reflux disorder, struggling in the first months to feed as her gastro system contains the same defective collagen, she suffers multiple joint dislocations and abnormalities, her fontanelle has yet to close up, Drs say it may take months to close, this could be another unusual sign that Drs have not noted, mine did not close until age 5. With EDS as we get older more conditions become apparent, which is why it is so important to have a good team of drs who fully understand EDS, read up to date literature and learn about the many associated conditions. With this type there is very little literature and knowledge of how we present and for Kade that means she may not get the right care.

I do know however, with such amazing role models of her Mum and Dad, and Mum understanding the conditions, Kade is in a better position to get the correct care. I am positive that Kade will become whatever she wishes to be in life, with a smile like that she will go far!

Thank you to Natalie and Michael for allowing me to share your story.