The Fight To Diagnose My Daughter With Ehlers-Danlos Syndrome

On February 14^th, Valentine’s day, my daughter got a long-awaited diagnosis from her doctor. I was so happy that we finally had our answer, that I didn’t have to fight to have my five-year-old’s symptoms taken seriously. The rest of the day I was in a deep exhaustion from all the stress and anxiety from before the appointment. Then, over the next few days, the sadness set in as I came to grips with the lifelong prognosis for my beautiful, happy, energetic five-year-old.

My daughter has Ehlers-Danlos Syndrome.

For those of you who don’t know, EDS is a range of genetic connective tissue disorders. The body produces normal amounts of collagen, but it’s malformed and doesn’t function the way it should. This leads to all sorts of problems, from frequent joint dislocations to easy bruising and digestive troubles, but the biggest thing with EDS is pain. Because the body is so loosely held together, joints undergo unusual amounts of wear and tear, blood vessels break more easily, and muscles have to work harder to make up for where ligaments fail. It causes a lot of pain, especially around the joints.

The first thing we noticed was that she started choking on her formula. We didn’t know then that it was the first symptom of EDS, but the problem was that the epiglottis flap wasn’t fully closing and formula was leaking into her trachea. She still chokes more than my other two kids.

Then it was the joints moving in ways that joints just aren’t supposed to move. Whenever we would try to stuff her tiny, fat baby feet into her shoes, her ankles would shift around horizontally, not in the normal ways an ankle should move, and her knees would ‘POP’ almost audibly. This joint looseness led to gross motor delays, simply because her body wasn’t stable enough to hold itself up yet. We just figured it was a developmental delay or hypotonia (low muscle tone) causing the problems.

We ended up at early intervention to address the developmental delays, and thickening her formula to help with the choking. She fell a lot after learning to walk, but she was happy. Life went on.

One day, when sprinting through the house at full speed, chasing after her older sisters, she fell again. This time, though, she fell straight into the corner of our piano bench and split her forehead open. Surprisingly, my 19-month-old only let out a single wail and then was curious about the wound. We loaded her up and drove to the ER and she got 3 whole stitches, which soon ripped out and left a fairly large scar on her head. When later that week one of my other daughters broke her arm, and the other ended up in the ER for an ocular problem, I was reported anonymously to CPS.

Getting a surprise visit from CPS is enough to make your stomach drop. I was absolutely flabbergasted, but I did my best to make sure that I gave the social worker all the relevant medical information to show that I wasn’t abusing my child and that she, and my other children, had just hurt themselves.

We were lucky. The social worker understood and we were cleared, but the fact we were investigated will always be on record.

Right around the same time, I was starting to have problems with my family practice doctor. The facility was overloading him with patients and scheduling months out, and he just didn’t have the time to see us. So within about a year, I moved all three of my kids to a pediatric clinic. They ended up with a fantastic doctor right around the time of my youngest’s 3^rd birthday. She went in for her well-child check.

This is where things started to change.

Her doctor asked, after doing the rest of the check, if there was anything strange about her. My daughter’s knees jumped into mind and I mentioned it. The doctor asked me to show her what I meant and I reached over, put a hand on the back of my daughter’s calf and subluxed her knee. Her doctor was immediately curious and started looking her over again.

“Her skin is rather doughy, does she have any scars?”

I pointed out the wide scar on her forehead.

“Are you from the area, or did your family move here?”

I told her my family is all from Utah and my husband’s is from Oregon.

“Has anyone in your family been diagnosed with Ehlers-Danlos Syndrome?”

I had never heard of it.

We were given a referral to a geneticist at a nearby children’s hospital and left the doctor’s office. I was in a bit of shock, but I did what I always do: I started looking up any information I could find on EDS.

I watched all sorts of videos, I read the medical classifications, I knew all the diagnostic criteria. I felt confident when her genetics appointment came around. I had a list of all of her symptoms, I’d done all of my research, and I felt ready.

“Since she’s only 3, and all kids are bendy naturally, I don’t feel that she has EDS. Come back when she’s 6 if she’s still having problems.”

I was upset. I felt that her symptoms were being overlooked. So I asked for a second opinion.

“If she had EDS and she was as active as she is, she’d be covered in bruises.” (Many people with EDS don’t have abnormal bruising.)

After the second geneticist said no, I began to doubt my research, began to doubt what I felt her symptoms were. So we decided to wait. Age four rolled around; she badly dislocated her right knee and ended up in a plaster splint.

Do you know how hard it is to tell a four-year-old that she has to sit on the couch and stay there? I do. I ended up having to bring her car seat in the house and strap her down so she could let the joint rest.

Do you know how loud a four-year-old cries when they’ve been strapped down and kept there for their own good? I do.

It was a miserable two weeks.

We ended up at Shriner’s to address the joint pain specifically. They diagnosed her with Unspecified Joint Hypermobility and told us to come back whenever she had a new issue. In the meantime, we were told to use soft, neoprene knee braces and k-tape to help stabilize things when she was playing hard.

Then it was the ankle instability.

Then at age five, it was her hip, and we ended up in physical therapy at Shriner’s.

Then it was her shoulder.

Finally, with kindergarten looming in the fall, I asked for another referral to the first geneticist. She was five and a half now, and her problems were escalating. She was being braced and k-taped together. I felt an urgency to figure something out so that we could prepare the school to deal with her mounting issues. How could we ask the school to brace her for every recess and limit her P.E. if we didn’t have a reason for the problems?

We got an appointment surprisingly quickly, so I prepared everything again. I gathered all the family history I could, described all of her symptoms and previous diagnosis in detail, and even included pictures of her physiological symptoms.

I stressed and worried every day leading up to the appointment. What would we do if we were told no again? What doctor would we see to try to figure out why she was having these problems? How would I get the school to comply with her needs and limit her high-impact activities? Everything was just rushing around in my mind and I was terrified that I would forget something and that would be why she didn’t get a diagnosis.

Who? What? When? Where? Why? How?

Often used for storytelling, these also happen to be a good descriptor for the rush of thoughts when it comes to medical problems. While everyone else was planning a romantic day with their significant other, I was planning out my day at the children’s hospital.

One of the hardest parts of having a child with special needs is how isolating it is. That is especially true with rare diseases like EDS. Most people haven’t even heard of EDS. Other parents can’t relate to what it’s like to have a child with invisible physical disabilities. It was bad enough with my older daughter, who has autism. But people know about autism now. They are better able to grasp what it means to have a child on the spectrum and the struggles it entails. I felt so alone. Even my husband didn’t understand how I felt. He’s got his own physical disabilities (likely a more mild case of EDS) and is just trying to get through day to day. It was just me, facing down this appointment, by myself.

The morning came and I was wide awake by 5 am.

The hour and a half drive felt like an eternity of racing thoughts, me being so anxious that I couldn’t even drink a coffee. I felt like puking by the time we arrived. Last minute checks that we had everything, and braces were in place, and we were off.

The geneticist was much more thorough now that she was older. He took angle measurements of her knees and elbows, checked her skin over, asked all sorts of questions, and then had my daughter sit in my lap.

“Many genetics offices aren’t even seeing people for new EDS diagnosis. There are so many people with joint hypermobility that want an EDS diagnosis that clinics are turning anyone who doesn’t already have a diagnosis away. You’re very lucky.”

He hasn’t said it yet.

“I know that you’ve done your research, so I’ve printed out the new diagnostic criteria for all 13 forms of EDS.”

He hasn’t said it yet.

“She’s scored a 7 of 9 for joint hypermobility, and she has very soft and stretchy skin.”

Is he gonna say it?

“Now with Classical EDS we do know some of the genes involved and can test for them, but even if we can’t find anything, I am quite certain she has Ehlers-Danlos Syndrome.”

YES!

FINALLY!

We had our explanation. We knew why she was having so many problems. We could get her the help she needed.

The rest of the day was a blur of blood draws, phone calls, and driving, mixed with the exhaustion that sets in after one has been so tense for so long. I crashed as soon as I got home.

Over the next few days, I had to keep reminding myself that we had our answer and I didn’t have to keep fighting anymore, as it hadn’t quite set in.

I’ve started in on our next steps of new specialist referrals and therapy. I’ve run the gamut of emotions since the diagnosis, but it’s mostly been sadness. I don’t want my daughter to have to deal with this. I’m not happy she has this, just for the answers it gives us. All I can do is keep moving forward.

I know we’ve been very fortunate. We got a pediatrician who’s had other kids with EDS and knew exactly what to look for. We were able to address her joint problems to keep the damage to a minimum with some of the best orthopedics in the country. I was willing to do a ton of research and fight for her to see more specialists.

Many people with EDS don’t get diagnosed until they’re adults, and much of the damage has already been done. Some people suffer for decades without an adequate answer for why.

We are fortunate, and for that I’m thankful. All we can do is use the advantage we’ve been given and live life to the best we can. For now, she’s a happy little girl, mostly free of pain, who always has a smile for her ever-worried mother.