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EHLERS DANLOS AWARENESS STORIES

 

NATALIE KADE &MICHAELS STORY Arthrochalaisa EDS -aEDS

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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.

 

 

 

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KYPHOSCOLIOTIC EDS

kEDS

POPPY'S STORY

 

 

In the next part of awareness I would like to introduce another amazing young lady who has Kyphosoliotic type EDS- kEDS, there are thought to be around 30 known cases in the world, again this could be more but Drs rarely know how to identify this type and sufferers could be slipping through the net. There is very little documentation of the type and it tends to be very outdated, yes you can start to see a theme emerging here! The rare forms of EDS. Because there is a known gene defect are less interesting for researchers, so updated information is hard to find. For instance as far as I am aware, there isn’t any available literature on the rarer types in adult hood, so sufferers are in the dark when it comes to their futures, and life expectancy.

When Poppy was born Drs knew immediately that there was something seriously wrong with her, she was born with two severely black eyes, to the point where nurses at first thought she was blind. Due to her extreme laxity Poppy had been injured in the womb and during childbirth. She spent the first few days screaming in pain, due to the injuries she had sustained. Poppy was born limp and ridiculously floppy, in the rarer types there seems to be a more noticeable floppiness in babies, almost like there are no bones. Everything clicks and moves about. Meaning mothers can find it hard to actually nurse and handle their babies for fear of harming them. Drs were running in and out of the labour room to take a look at Poppy. Mum was told that poppy had spinal muscular atrophy and was heartbreakingly told to ‘Take her home and enjoy her while you’ve got her, she wont live past her 1st Birthday’. A devastating comment that must have caused a great deal of trauma to a Women who just wanted to enjoy her newborn precious baby.

At 6 weeks old Poppy was given a muscle biopsy to try and determine her condition, at which point she was diagnosed with Muscular Dystrophy, a misdiagnosis that stayed with poppy astonishingly until the age of 14. Kyphoscoliotic type sufferers have a fault in the PLOD1 gene which is a gene responsible for instructing specific enzymes to build proteins responsible for stability of collagen.

Poppy spent years in and out of hospital, having physiotherapy to try and get her to stand and walk. For the first years of her life she was treated as a patient with muscular dystrophy. She occasional used a chair and learnt to cope with her condition and make the most of that cheeky smile!

At 14 Poppy was re-diagnosed when a consultant realised that her condition although floppy and hypotonic also included extreme hypermobility, which lead him to conclude that she had Ehlers Danlos Syndrome, not until the age of 21 was Poppy genetically tested to find out her confirmed type kEDS, she was diagnosed by the EDS diagnostic centre at Northwick Park, Middlesex, under the care EDS geneticist who has sadly retired now, Professor Pope. This was done with a simple urine test to find the genetic defect, Poppy has a recessive gene defect, meaning she inherited a fault from each parent. Although Drs had suspected she had a rare form of EDS it took time to be referred to genetics to get the confirmation. Poppy has suffered all her life with mobility, part of the type means that along side spinal complications, extreme hypermobility, flexibility, the organs are also effected, causing mitral valve complications, neurological conditions, severe eye complications and the list goes on. Dislocations and subluxations are the norm for this type.

Poppy has very long limbs and very specific facial traits that could have helped Drs to diagnose earlier, this is why awareness is so important. The type effects many of the bodies systems, skin is fragile, stretchy, with poor wound healing, and and cuts or grazes scar badly the vascular system can be effected and can shorten life expectancy. Risks of aortic dissections, aneurysms and vessel ruptures and retinal detachment are a high risk, as a result Poppy has regular heart scans, vascular scans and eye checks, she takes medications to keep her blood pressure lower to avoid life threatening risks of her vessels and arteries rupturing

Poppy said like most teen to late teens she stopped wearing her splints and braces and stopped using her chair, although this would have a negative effect on her condition, she just wanted to fit in with her peers. Something I think every EDS sufferer goes through, that want and need just to be like everyone else. This can mean greatly damaging our bodies. Poppy said’ I became embarrassed to admit I was disabled. Pretended I wasn't struggling, until I got to 21 then matured and got an electric wheelchair so I could go shopping, have freedom for the first time in my life!’

Poppy is a young beautiful vivacious young woman with her whole life ahead of her, she has to worry about things most 20’s should not have to worry about. Her life revolves around what ability she has to do simple tasks, every activity however simple, has a massive pay off. She has the added stress of her weakened vessels and fears of severe complications.

I wanted to tell Poppy’s story for awareness of this rare type of EDS for several reasons, to get to 21 before knowing her type is not just astonishing, but also dangerous. If drs had more knowledge of EDS and there was more literature out there on her type, she may have been diagnosed at birth. To me her birth story rings massive alarm bells, yet only at 14 did her diagnosis become the correct one and at 21 her type was confirmed, that is far too late.

The literature needs to change, its outdated and does not show the true extent of what this type presents like, Poppy at present does not have spinal complications of kyphoscoliosis, yet the type specifies this within its classification, this could lead Drs to overlook patients, this is an area I believe needs more research, as the confirmed cases I have come across, by speaking to the sufferers none have this complication.

Thank you for reading, and please be aware the following photos are a true representation of Poppy’s type, they are not party tricks, this is her normal level of flexibility and damage.

Thank you Poppy for letting me tell your stroy

 

 

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VASCULAR EDS

vEDS- CONNOR'S STORY

 

I would like to introduce you to Connor one of the kindest most gentle young men I have had the privilege to meet. During an EDS meet to Blackpool I found out what a lovely kind young man Connor was, a credit to his Mum and Step Dad. Always helping others before he thought about himself.

Connor has vEDS- Vascular EDS.

Connor is 15 and was diagnosed on 7th January 2010 after what seemed to be the longest, hardest and most devastating wait for Connor’s Mum Marisa.

Marisa sadly only found out her ex husband had Ehlers Danlos syndrome when he passed away from the complications of Vascular EDS, Connors Dad had been ill for some time, but had been misdiagnosed and there was confusion as to what his diagnosis was, it was believed at first he had Marfans syndrome.

Marisa has chronic health conditions herself and had battled for many years to have a baby. Connor was her miracle baby after many miscarriages and was cherished and spoilt by the whole family, Marisa’s Mum especially doted on her gorgeous Grandson. Up to age 8 Marisa was unaware of Connors condition. On the news of Connors Dad’s passing panic and devastation set in, at the realisation that Connor could have inherited his Fathers condition. Something no mother ever wants to hear or face. Marisa took Connor to genetics to get tested for Vascular EDS, up to this point the signs of the condition had not been apparent, this is often the case for some sufferers and this is why awareness and family medical history is vital.

Like all types of EDS it is a spectrum of severity, and so a seemingly healthy child happily played, ran, played football, had injuries without knowing the risks. Small signs were there, but without knowledge of what they were Connor went undiagnosed. Marisa had a heartbreaking wait while the results of Connors tests were being processed. Its something close to my heart as I went through testing at age 11 for this type. My parents must have been devastated, but put a brave face on and did not let me know the extent to what I was being tested for. My story is a happier one in that yes I have AEDS but it is a type that has less vascular risks involved. The trauma Marisa went through to wait and wait for the answer, did Connor have Vascular EDS?

The news no parent wants. If I’m truly and blatantly honest its the news no EDS sufferer wants. Yes, other types are known to have life threatening vascular complications. But in Veds the life expectancy is considerably shorter and its something that is well known amongst the medical and EDS community.

Type 3 collagen is responsible for vessels amongst other tissues col1a1 is the defect that causes Vascular Eds. Dependant on the defect depends on the severity of the condition. Which is where it gets complicated. This is why some children may be covered in bruises at birth, have bleeding issues, hernias, skin that splits open and does not heal, have see through skin, have all the signs, including club foot, and some may not. It takes a very experienced Dr to identify the risk factors, in my view anyone considered to have a family history of early onset aneurysms or dissections with hypermobility and signs of the condition should be fully genetic tested, at present this does not happen, electro-microscopy is carried out first to see if your skin sample looks Vascular EDS in nature, skin collagen fibrils can have a specific look for each type, however it is not a confirmation, only full testing identifies the condition. Many sufferers never get as far as the genetic test! Which needs changing.

After a wait Marisa received the news, Connor had inherited vascular EDS. At this point Marisa went through a period of mourning, trying to come to terms with the knowledge that her only child, her miracle baby that she fought so hard for, may not outlive his Mother, a heart breaking realisation, that no parent should ever have to face.

Marisa has constant fears of Connors condition worsening.

Connor when I met him was a very lively outgoing boy he was fully aware of his condition and what it meant, that is stark and devastating, for a child so young to know he may not live long into adulthood. Connor seems to take it all in his stride, I’m positively sure there must be days where he wishes he didn’t have this cruel condition, but he seems to cope exceptionally well, I guess he just wants to be like any other kid his age. But being a kid of his age 15 means football which he loves playing comes at risk. Connor not only has high risk of vascular complications but like many vEDS sufferers has hypermobile joints, the classification states usually in feet and hands, but having met and spoken to several sufferers most have whole body joint dislocations and other complications found in other types, they don’t get away with less joint issues! This is something that needs further research. Quite a lot of sufferers don’t quite meet the classification and yet have been genetically confirmed, and this is where the classification and medical review needs more work. There are specific facial features in some, but only in some. Connor also suffers from gastro intestinal complications, mitral valve regurgitation, Asthma and breathing problems, Eye Tortuous of the blood vessels, severe migraines, GERD, Raynaud’s and chostrochondritis. He has suffered spontaneous vessel/vein ruptures with no known injury. Connor has very see through veiny skin, he has fragile skin that easily cuts and bruises, this is a sign of VEDS, but is also a sign of EDS in general. Connor as he has got older has started to suffer with more chronic fatigue symptoms and brain fatigue/fog. This is very hard for a 15 year old to deal with. Yet Connor copes exceptionally well, he has a really impressive grounding. Connor does have regular Vascular scans, heart scans, eye checks, GI consultations to make sure he is staying as well as he can be. There is a huge fear of the unknown with Vascular EDS, sufferers live with the knowledge of a short life expectancy. Drs can monitor and medicate to keep risks lower, but the risks are devastatingly high. I hope for the future that money is invested in treatments to help manage the condition so that Mums like Marisa see their sons and daughters, live full and long lives, as all kids should!.

Thank you to Marisa, Connor and Paul for letting me tell your story.

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