Ehler's Danlos Syndrome: A Family Affair, Part 1
May is Ehler’s Danlos Syndrome Awareness Month. This is Natalie's story, as told by her Aunt, Patty, a Fight Like A Warrior Community member. She shares her niece's story of life with Arthrochalasia Type 7a - aEDS, a diagnosis she shares with her daughter. Stay tuned for more from Natalie and her perspective in an upcoming blog post.
I have a sweet niece, Natalie, who was born with exactly this syndrome. At the time that she was born, she could not even be diagnosed with EDS because it was so rare that few physicians were aware that it existed. From birth to 8 months old, Natalie had a body cast on. It was impossible to imagine how uncomfortable, hot, and itchy it must have been for that precious baby.
She is small in stature and was born with congenital dislocated hips, club feet, deformed hands and other types of deformities that are associated with Arthrochalasia EDS. But since there are thought to be only forty people in the world with this type of EDS, it would not be likely that our family would find a specialist in 1958 who would have the answers to what was wrong with their little one.
There is a possibility that there are more people living with this syndrome, but without a registry of sufferers and more research on how exactly they present, and whether they are spontaneous mutations or inheritable, we will never know for sure.
She spent the first few years of her life in and out of hospitals, bruised all over, intestinal problems and broken bones. Because there was so little known about EDS and with the misunderstanding of her condition, Natalie was placed into foster care. It was only then when her foster mother realized that she was not presenting as a healthy child that she was sent to medical professionals to be assessed.
Also, it is not unusual for a baby like Natalie to present with bruises from head to toe. And just as in her case, her bruises, many other abnormalities and broken bones were misinterpreted as physical abuse within the family. Finally, my niece was diagnosed and there was a greater understanding about her condition and she was returned to her parents.
There was still a lot for the medical professionals to learn about this syndrome and, at the time, her parents were told that their child will not walk, make it to adulthood or have children themselves. Throughout her life, we have watched as Natalie suffered a whole array of serious medical conditions and has had so many surgeries with more metalwork in her body than anyone I’ve ever seen. She has full spinal rods from kyphoscoliosis, this is also a sign of her EDS type, spinal deformity is common. Natalie has neurological problems and has regular brain scans due to abnormalities. She also has heart defects which are regularly monitored too.
Today, she is an amazing woman and has given birth to her third child. Natalie’s pregnancies were all considered high risk with a possibility of a miscarriage 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 Natalie’s physical health, her heart, spinal complications for fusion/ rods, but also the high instance of the baby also inheriting her condition.
At scan with her baby, Natalie and her partner were told that abnormalities could be seen with the baby. Natalie came onto a FB group in the UK specifically for those with aEDS to talk through what they had learned from the scan, and to try and work through their concerns. I cannot begin to understand how they both felt. She was welcomed with open arms into the FB Group for those with aEDS with so many words of support. She was given practical advice and support by telling her that as a sufferer of EDS herself, she was in the best position to understand and cope with whatever here daughter’s abnormalities, whatever they would be, and to embrace her as the unique, fantastic baby that she is.
Natalie and her partner were being prepared by her specialists for the high-risk pregnancy and were telling them about what the birth Baby Kade would look like. Talking to others with EDS and children with EDS is an important part of really understanding what you may face.
Now I want to introduce you to Kade who has gone through testing for Arthrochalsia EDS, which she does have. Like her mother, she is on the severe end of the scale. Natalie has allowed me to share her and Kade’s life to hopefully show others what Arthrochalaisa EDS is like. We rarely see pictures of how babies present and the level of hypermobility at birth, but they are floppy and can contort their bodies. Some of people with EDS have extremely stretchy, thin, wrinkly skin on their bodies. A lot of other signs will only truly show in X-Rays, but the level of floppiness is still something that Dr.’s don’t immediately understand. For that reason, it’s important to know that in this type it is severe laxity and hypotonia.
Kade went through the casting of her knees, legs, and ankles to manipulate the joints into the correct position. She has club feet and has been through her first surgery, a heart wrenching time for her parents and for those who close to them.
She is 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 a cast and years of ongoing physical therapy. The success will depend on the ability for her weak and 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 for Kade and if she will walk, this is something that those born with aEDS have all faced. 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, Dr.s say it may take many more months to close. This could be another unusual sign that Dr.s have not noted.
With EDS, as we get older more conditions become apparent, which is why it is so important to have a good team of Doctors who fully understand EDS, read up to date literature and learn about the many associated conditions. With this type there is still 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 as her mom and dad, 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! Thankfully Natalie is knowledgeable when it comes to EDS. Kade is walking with the assistance of a walker and full leg braces. We all cried the day Natalie and Mike posted her walking, it’s something I think in all honesty none of us thought would be possible.