It has been four days since we heard the official, “You do have this condition of Ehlers-Danlos Syndrome. You have the hypermobility type but we do want to send you for an echocardiogram every three years to keep an eye on your heart.”
My child has a genetic condition. There is no cure. I may have this condition. My other children may have this condition. This is our story. We are not alone. YOU are not alone.
How our Journey Began:
In the last couple years, life was changing. Well, maybe it wasn’t changing. The problems have always been there but I didn’t have the answers. It was like putting together a 10,000 piece puzzle with no picture to look at on the front of the box. I didn’t even know what I was looking at. I should cut myself some slack though because in the last fourteen years, no doctors or other care providers ever recognized a single piece of that pesky puzzle.
Our journey to diagnosis began two or three years ago. I noticed that Kahlan (daughter #5) couldn’t keep up with her peers, she fell a lot and she was just very clumsy. I kept expressing my concern to her doctor but they said she was “pigeon-toed” and, “You and your other girls seem to have it too. It’s nothing to worry about. It’s just something in your genetics but it’s no big deal. She’ll outgrow the clumsy stage.”
But, she didn’t. She couldn’t keep up. She would get upset because she fell and the other kids could outrun her because she would trip and fall. I noticed that she couldn’t jump with both feet and that she was uncoordinated. Finally they listened and Kahlan was started in physical therapy when she was three years old.
I had a brand new baby when Kahlan started PT and over the next year the therapist would make comments about Arie not wanting to crawl. We eventually did hit that milestone and then when she started walking–that was a disaster. Arie did become a concern. Not only was the abnormal gait nearly painful to look at–she started having muscle spasms and restless leg. As if all of that wasn’t enough? Sometime in all of this mayhem, my oldest daughter started having a lot of shoulder pain and eventually she dislocated her shoulder. At that point I was beginning to wonder what I was missing. I myself have dealt with chronic pain and subluxations and now the children are all having similar problems? Something just wasn’t adding up.
Around the time that my toddler was being put into therapy, a new therapist came to the clinic and she started probing, asking questions and making suggestions as to where we should take the kids to have them checked out. We started with orthopedic specialists and that yielded nothing. I can’t recall the exact time when she broached the topic of Ehlers-Danlos Syndrome but once I started reading, a lot of puzzle pieces started falling into place. From Mast Cell, joint pain, joint swelling, GI issues, skin issues–suddenly things started to make sense.
I think back to when my girls (ranging in age from 21months to 14 years) were little and the endless nights when they would cry of extremely bad leg cramps as well as being fairly cranky/sore kids after hard play or contact sports. I recalled the times I had asked the doctors about their gait, their complaints of pains and the initial write off as growing pains. There were always things amiss but doctors wrote them off and it took a child having severe gait issues, muscle spasms and pain from 16-18 months old for someone to finally recognize things for what they were. Moms, never ignore your gut feelings. Trust them. If you think something is wrong with your child then you trust that instinct and be your child’s advocate!
Time has led to five of my six children being classified as hypermobile, first by a physical therapist and then a rheumatologist who then suggested that we see a geneticist. All of that in turn has led to my oldest daughter being diagnosed with Ehlers-Danlos Syndrome. I and her younger siblings await our own day with the geneticist. Arie and Kahlan are the next to be seen in August of this year.
If you’re reading this blog post then it is likely that you suspect that you or someone you love has Ehlers-Danlos Syndrome. As a person that may have this condition and as a mother who has a child that has been confirmed to have this: I’d like to say that you are not alone. There are other moms and people who live with the chronic pain, the endless therapy sessions, the orthotics, taping and bracing that you may be going through. I know what it’s like to just drop all other aspects of life so that you can address the physical ailments that seems to be assaulting you or your family. Hang in there! If you ever want to talk, I’m here and I’ll do my best to reply to any comments, questions or emails. I am not a doctor and I cannot diagnose your child or offer medical advice but I can answer questions about our journey and offer words of encouragement as you brave your own path.
Stay tuned for more posts about EDS and our journey!
If you are a mom that is looking for love and support and you have a child with any physical, mental, health-related difficulties feel free to connect with me in my facebook group, Anchored Moms.