"Suffering the Slings and Arrows of Outrageous Fortune"

What I wish I knew then

One conclusion I have come to, through all our experiences, is that our hard earned knowledge could be used to help others. So, in that light, I will list some of the warning signs that we had when the kids were younger but had no idea what they meant. The simple  truth is that the earlier EDS is recognized, diagnosed, and treated, the better the outcome. The people who go decades without a diagnosis are the ones who typically end up in the worst shape. If we had known when Emily was 2, would she be in such bad shape today? Maybe but maybe not.  We would have at least had a chance to be proactive for 8 years before things went bad and then act quickly when they did get bad. Hindsight is 20/20 but maybe our experience can help one person catch EDS early…

So, our first sign was pain with walking – both kids experienced this. When he was little (2ish through 4 or 5 years old) Luke would have terrible leg pain at night if he walked a lot during the day. If he went out and played in the cold, he was guaranteed to be awake half the night crying because his legs hurt so bad. We were told it was ‘growing pains’. He eventually outgrew this – I think. It is possible that he just got to a point where he didn’t tell me or got used to it.

Emily was worse than Luke: From the time she was 2 yo, she needed to be carried if she had to walk any distance. We didn’t think much of this, after all, how far should a 2 yo be expected to walk? It seemed reasonable that a toddler would need to ride in the cart while grocery shopping – except this continued until she was way too big to ride in the cart. Even when she was 8 and 9, she complained of pain when walking with me to get groceries. ‘How much longer are we going to be? My legs hurt.’ Of course, now she is in a wheel chair when we go out and her legs hurt anyway.

When she was little, she loved to go on walks with her Papaw but it became a family joke that a walk with Emily ended up as ‘carry’. She had to be carried even if it was just around the block. She was clearly healthy and strong and active, so the best explanation at the time was ‘That is just Emily’. She could be a tad bit dramatic and she was the baby – we chalked a lot up to a dramatic personality.

She, too, had leg pain at night. From the time she was able to walk until after she dislocated her knee, she would call me in the middle of the night, a couple times a week,crying because her legs hurt. I would rub her legs, get her some Tylenol and tuck her in – often she would fall back asleep with tears still on her cheeks. This was normal to us.

When she was about 2, she got into a toddler gymnastics class. She excelled in it. It was the first time we saw how flexible she was and we thought it was a gift. When she got older, she was in gymnastics at the Y. Again, she excelled. But, as she progressed through the program and it got more intense, she started getting injured frequently. Constant sprains and strains; she was always wearing an elastic bandage on one body part or another – usually her knees, ankles and wrists. She was invited to join the competitive team but a little voice in my head/heart wondered about all of the injuries and we opted to keep her off the team.

Another sign was clumsiness. Emily could literally trip over nothing and end up with a serious sprain. When she was 4, she tripped over her feet in the back yard, fell on the top of her head and gave herself a concussion. She was always falling, tripping or getting hurt in some strange way. There were times I was concerned we would be accused of abusing her.

The odd thing was she never had any swelling or inflammation with any of her injuries. Her dad is an Physical Therapy Assistant so he knows about these things. No swelling? Not serious. Again, all we could say was ‘that is just Emily’. But that voice in my heart couldn’t quite accept that. How could a child who was so poised on the mat, bar,vault, and beam be so clumsy walking through the house? Just didn’t make sense.

When she was 8, she was in a gym class at our homeschool co-op. They were going to start off playing soccer and she was beside herself with excitement. But after the first class, she came to me and said she had to sit out because she just couldn’t run with the other kids because her legs hurt. She watched the other kids for the rest of the semester, then took another class. This made no sense to me – while she  could not run and play soccer, she was in gymnastics and excelling. The only explanation I could find was that, perhaps, soccer wasn’t quite as thrilling as she expected and she didn’t want to play. Didn’t really believe that and it added to the questions I had.

She got tired easily. We were active in a civic theatre in Richmond – she loved being a part of the musicals and plays. But it exhausted her and the other kids her age seemed to have a lot more energy.

Eventually, in September of 2009, she dislocated her knee while doing a handstand in gymnastics. At some point during that time, she mentioned that she had dislocated her knee several times before – never badly and just popped it back in. Again, it was normal to her.

After we were told that the laxity was in all of her joints, her fingers started dislocating. Luke pointed out that his thumb had always been painful and moved too much. He showed us his other joints – his toes, knees and hips are hypermobile, just like his father’s.

It wasn’t until Em was laid up in bed after walking around the zoo all day that we really narrowed down what was going on. I had asked about Ehlers Danlos when she first hurt her knee and was told it wasn’t a possibility. But it was the only possibility as time went on.

I wish I had known all of this when my kids were little. I wish I had an answer for Emily when she would asked why her legs hurt. Once, when she was 8 or 9, she said she wished we could go to the doctor to find out what was wrong with her legs. They had told us ‘growing pains’ all along. I know that our doctor would not have figured it out then – I had to take the information to him and ask for a referral to a pediatric rheumatologist. Still, I wonder if she would be better off now if we had known then.

My hope is, that by telling our story, someone else is able to catch it sooner and not have to ask ‘what if?’

Leg Pain/Pain with walking – the muscles have to compensate for the joints being so loose. The muscles are working so hard to keep the body upright and functioning and suffer from overuse.

Clumsiness – poor proprioception, the brain doesn’t know where all the limbs are and what they are doing – resulting in falling, running into walls/doors/etc.

Fatigue – the body is using so much energy to keep going, the muscles are working overtime to keep the joints together.

Finger Pain – children with hypermobile fingers often have difficulty and pain with writing.

Comments on: "What I wish I knew then" (18)

  1. Reading that was like reading my story, even down to the gymnastics. I have a 7 year old son that seems normal and a 5 year old daughter that has the same issues Em and I had during childhood. I see a genteticist march 14 and if I end up getting diagnosed, then I can get my daughter seen as well.

  2. Jules said:

    My son was diagnosed with EDS last May, when he was 7. Reading this was like reading his story, he was in a stroller until he was almost 6 when we said enough is enough and after that life became more difficult for us all. I look back with guilt at how we pushed him and told him off for being lazy 😦 Thankfully we have a fantastic paediatric rheumatologist who diagnosed him immediately once we were referred. The more we can get the symptoms out there the more children can be help, I don’t believe it is as rare as it is claimed.

    • Hey Jules,
      The guilt can be pretty hard for us moms – I just wish I had known when my daughter was younger, maybe she wouldn’t be so ill now but I know no one can say that for sure. Don’t beat yourself up – you did the best you could and have obviously been very proactive for your son. How can a mom know about EDS when the doctors totally miss it – or dismiss it when we point it out to them! It is great that your son has been diagnosed so young – although I know it is a mixed blessing. You have a real chance to prevent a lot of future problems for him and that is wonderful. I am so glad you have a great doctor who caught it!

      I totally agree that EDS is no where near as rare as they say and the experts are just now starting to figure that out. Awareness is the key – I would love it if no other parent had to wonder for years what was wrong with their kid, like we did.

      Thanks for commenting!
      Beth

  3. Shawna said:

    I really appreciate your blog posts and find comfort and validation in them. I am now 38 and was just diagnosed this past October. I was a brilliant athlete from the age of 5 or so and was always injured. I played 3 sports in high school, started varsity high school softball in 8th grade but I spent so much time in pain from sprains, tears, breaks and dislocations; PT it was a second home and my orthopod became a family friend. Still, EDS was never mentioned or diagnosed and my doctors just referred to me as “Gumby.” To make matters worse, I had one of the worst historical cases of Endometriosis to date and had 16 surgeries in 3 states over a span of 10 years resulting in a hysterectomy at the age of 29. Several of the surgeries were to tear down adhesions (scar tissue). Between the two chronic issues, I was considered by family, friends, doctors, ER doctors as a hypochondriac, malinger, drug seeker which has had a significant emotional fall out even today. When I finally got the EDS diagnosis, I told my father and he said, “Oh. Huh. I thought you had all of those 50 surgeries and procedures just to get drugs.” I’ve missed so much of my life, opportunities, relationships and love due to misdiagnoses, overmedication, fear of judgement and just plain pain. The damage has been done, I can’t change that but I am now working on taking that power back. Regrets are useless and sometimes you have to start over right where you are, realizing it could always be worse. Keep on posting honestly and from the heart … people are listening and feeling less alone through the factual information you provide (I copied the EDS 101 to give to every one of my doctors) and the heartfelt, proactive expression. Thank you.

    • Thank you so much for your kind words and encouragement! Blogging has been such a positive in my life – exactly because of ‘meeting’ people like you! While I hate to hear a story like yours (the details are unique to each situation, but, sadly, the overall theme is almost always the same), I know that by sharing and communicating we can make things different for future generations.

      It is hard not to get lost in regret – I call EDS a thief and it is diabolical in what it takes from a person – but, all we can do is focus on moving forward. I commend your attitude amidst so many obstacles and challenges.

      Good luck – I hope you continue to empower yourself and find the answers you need.

      Thank you so much for reading and commenting!

  4. I found your blog googling a new medication I got today + EDS, and quickly backread the last six months or so. I’m eighteen and just starting my EDS journey – I realized what was wrong with me a little over a year ago, and today I got a doctor to take me seriously about it for the first time. Your description of Em as a kid hit me pretty hard. Swap out gymnastics for ballet and jazz and that’s pretty much me, though I didn’t start having real dislocations until I was fifteen or sixteen. I don’t usually comment to people’s blogs, but EDSers have to stick together, right? Plus, I have the same birthday as Em.

    • Hi there,
      I appreciate your comment: I don’t often comment on blogs either, so I really appreciate you doing so!

      EDSers do need to stick together and that is one reason I am here. Sadly, the stories are so common – almost universal. I am so glad you pushed and got to a doctor who listens. It really makes all the difference.

      Thanks for reading and commenting. (And happy belated birthday – I’m glad the world didn’t end and you were able to celebrate!)

      Beth

  5. Jeni B said:

    We are just starting our EDS journey. I am 33 and diagnosed Dec 18 when my daughter (4 years old) saw a genetic doctor at Cincinnati Children’s. My 4 year old was diagnosed the same day we see the specialist in July. Its been a bit overwhelming, but reading about your little girl its like reading about the past 4 years of our life. I saw you are from Richmond if you were from Indiana could you contact me. We are close and would love to contact another parent.

    • I am sorry to hear that you and your daughter have EDS but I am so happy that you have been properly diagnosed. (I hope that makes sense!) It helps to know that there are others like you, who know how you are feeling. That is why I blog!

      We are close to Richmond, but actually in Ohio – my husband works in Richmond. I will try to email you – it is good to have someone to talk to!

      Thanks for commenting!

      Beth

  6. Lindsay Huckabee said:

    I’m so grateful to have come across this! My 14 year old daughter was diagnosed in September and my eight year old son last week. I could almost literally write the same story about Caitlin only change gymnastics to soccer and add a few more years that unknowingly let her tear her body apart. So many friends try to compare this to their broken leg that took them out for a season or a strep keeping them out of the talent show. We are still dealing in the year of firsts and its rough.

    • I am glad our journey can be helpful in any way for you. There are so many ‘Emilys’ and ‘Caitlins’ with the same story. It is helpful to know that but sad at the same time because we wouldn’t wish it on anybody!

      It is hard in the first year – we are three years (tomorrow, the 14th – wow, I hadn’t thought of that until I typed that!) and I feel like I am just to the point of emotionally being stable. It takes time – won’t be the normal you had, but it will be a new normal and it will be ok.

      I know what you mean about people being upset about such little things when we are facing such big things. Especially early on it was just a knife in my heart to hear people complain about little things like that. Yet, now I feel bad when friends feel like they can’t complain about their kids’ issues, like mine outweigh them. I have a friend whose 14 yo daughter just had knee surgery and it was a really big deal for them – she kept apologizing for being upset because it was nothing next to our problems. I told her to never apologize because everyone has stuff and it is real. Yet, a tiny voice in my head whispered that it would be awesome to be able to have surgery that ‘fixes’ the problem. Then I feel guilty for thinking that. Sigh…

      Anyway, thanks for commenting!

      Beth

  7. I am so thankful to have found your site. We were just diagnosed this month. My pediatrician was very active in our diagnosis. I am so happy she finally talked me into seeing a genetics specialist. My daughter who will turn 8 in August after my research fit every symptom. At birth she was born with club feet. She had tubes in her ears @ 18 months. She was a late walker, crawler & everything in between. The first doctor said it was dystonia. Then, once she started walking we noticed a cyst growing in the back of her knee. At 2 she had the cyst removed. She has had multiple bladder issues & was diagnosed with spastic bladder. At 3 she fell off of a few stairs from a slide & broke her arm in 3 places. The doctors kept checking my story because the break from a simple fall was a bad break. At 6 we took her on a hike. She woke up the next day with excruciating bladder pain & infection. We had to rush her to the doctor. We ended up going to see her bladder doctor. While there they noticed what they thought was a swollen lymph node. It started getting bigger & my husband became convinced it was a hernia. After 2 visits & it getting bigger & she got the flu. It became very visible from coughing. She had a groin hernia. They were shocked. So shocked because it is rare for such a young girl to have a groin hernia. I kept telling them it had to be the hike. Then the next spring & fall we put her in softball. She constantly complained of leg pain & would wake up crying. This past August we noticed a new cyst on the back of her other knee. After this my pediatrician insisted we see a genetics specialist. I finally agreed. They knew right away. She is very flexible, her feet are still loose, she has the nose, the eyes, the flat feet, the stomach issues, the skin pulling, the headaches, the light and noise sensitivity and the constant leg pain. We can barely get through a grocery store. She now rides in her own cart. She is currently in a cast, because of the cyst. The crazy thing is that even though she is in a cast the pain is gone. It has stabilized her joints. I am so thankful to read everyone’s journey as I worry what is in store for her. I would love to hear any advice you may have. Thank you so much for this blog.

    • So many stories of parents of young EDSers being accused of abuse. It is so sad that doctors and nurses are too ignorant to consider EDS as a possibility. I remember long before Emily was diagnosed, I was nervous about taking her to the ER – she was always bruised and got hurt in the weirdest ways. At times, I was amazed at the explanation that we had to give – sounded crazy even to me. But, we were fortunate to never be accused of abusing her.

      I am glad you got a diagnosis for your daughter – it is hard, but not knowing is so much harder.

      Thanks for commenting and sharing your story!

  8. Lorraine reeve said:

    Reading this is just all sounding yo normal, I have been fighting for help fir my son since he was 6mths old to be told nothing wrong, as he is getting older mire mobile he us getting worse, I have even been accused of making it up and been investigated as abusing him, as he bruises so easterly and does not heal.
    I wish I knew where to turn, but I just keep fighting for him

    • It is so hard – I feel for you! My best advice is to find a good geneticist who is an EDS expert to treat your son. Some one who really knows EDS will be able to guide you and make sure you are getting the best care. Dr. Tinkle in Chicago, Dr. Neilson and Dr. Schorrey in Cincinnati are probably your best bets for a child. I would also suggest you get on the EDNF message board on Inspire.com. You can ask for advice about doctors close to you and you might even find a local support group who can help you.

      Hang in there – if I can help you in anyway, let me know! You are not alone!

  9. Jen Bowlin said:

    Oh I m in tears reading all this info. These symptoms are me as a child and my daughter as well. I have never heard of POTS or Mast cell but am now researching it and see that these are many of my symptoms. I also have narcolepsy but was unable to take the Xyrem due to an allergic reaction which baffled doctors. Luckily Narcolepsy is controlled for me doing meditation, Pranic Healing and 9 Energizing Breaths. Have you found any correlation with your research and endometriosis as this is my current struggle. Went in to have a cyst removed on ovary and instead removed ovary and endometriosis. Currently taking Lupron Depot shots. The 3 month shot caused me to have v tach and heart plpitaions Now taking metroperol and instead doing 1 month shots. Very thankful for your research.

    • I am so sorry you have all of these things to deal with, but I am glad you are starting to put the pieces together. That can be a long journey but I think pursuing all of the various diagnoses is worth it!.

      I am not terribly familiar with endometriosis and EDS but I know that there absolutely can be gynecological complications in EDS. So, it might be worth talking to you doctor about it. I would recommend joining the EDNF message board on Inspire – that is a great place to ask questions and learn about EDS. Also, you could get on the forum on Dr. Diana’s website – prettyill.com – and ask some questions.

      Good luck – I hope you figure it all out and find some relief.

      Beth

  10. Oh how I wish I had read this a few years ago. Thank you so much for sharing your experiences with us. xx (i am happy to return the favour if you need info on celiac, lol)

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