ehlers-danlos syndrome | piper update

a couple weeks ago i shared a huge update about our little lila bean and all of the progress she has made with her new tubes {you can read about it here}. life got away from me and here we are a month later and i really need to update about our little piper!!

sweet + sassy ducky.

to start, i’ve had lots of people ask where the nickname ‘ducky’ came from..  when the girls were born and in NICU, piper looked like the tiniest little duckling in her isolette that had just been hatched. skin and bones with the cutest peach fuzz all over her little body and head, we found ourselves and our nurses calling her ‘sweet little ducky’..and so it stuck! she will always be my little ducky.

so where to begin. let’s back up a couple of months.

gross motor delay

as the girls started developing, we started noticing unique delays in each one.  while we were concerned about lila’s speech, piper, on the other hand, had gross motor delays. gross motor delays are tricky when it comes to little ones because there is such a wide range of what is ‘typical’. examples include sitting up, crawling, walking, jumping, etc.

we had been in help me grow {a state funded early intervention program that comes to your home to provide therapy} for awhile and at some point we had been to another specialist when i kept finding myself saying, ‘something’s just not right.’
at 16 months, she wasn’t walking yet and seemed pretty irritable and sometimes even in pain when bearing weight on her legs.  watching her move around, she just was…awkward. she was certainly determined to move around and keep up with sis, but, her movements were rigid and just didn’t look right.  we had been working with a physical therapist with privately and through HMG and at some point the suggestion was made to get her fitted for custom braces.  she basically walked on the inside of her ankles and her feet turned in so much, she wasn’t able to get the movements right to walk. there was some hesitation to intervene at such a young age, but we finally pulled the trigger and got her ‘SMOs’.
it was the best decision. ever.

not only was she up and walking, but she was building strength, confidence and she was mobile.

the diagnosis was hyper-mobility with a global gross motor delay.

neurology + a search for answers

as ducky continued to develop, she was making a LOT of progress, but also continued to show signs of concern.  our team wanted to rule out anything neurological, so we went to a neurologist with the main concern being cerebral palsy.  within minutes of her assessment, the neurologist ruled out CP and a couple of other possibilities, but became concerned about muscular dystrophy.  we were sent for bloodwork and had to wait. honestly, i was a train wreck.  i know god created her beautiful and perfect in His image, but the what-ifs and a diagnosis that holds so much weight was a lot to carry. we finally got word that while some proteins were elevated, the ones they were looking for specifically were okay.

back to the drawing board.

at this point, i felt like we were on a wild goose chase. ducky was making progress. she continued to meet milestones…they just look a bit different.  you know that feeling that something just isn’t right? but you don’t know what it is… i had it and it was unsettling, but i was tired of searching for answers. i was tired of the blood work, the specialist appointments, the hip ultrasounds, x-rays… i finally said we’d go one more time and then we needed to just take a break.

we went back to the neurologist and she was pleased with her progress but thought her hyper mobility was still enough of a concern that she felt we should see one more doctor, a geneticist with the concern being ehlers-danlos syndrome.

genetics + ehlers-danlos syndrome

we finally had our appointment with the geneticist and from the moment he came in, i adored him. he seemed seasoned, asked a LOT of questions, played with piper on the floor, earned her trust and did a full examination. he took his time and he finally said, ‘well, she’s one of the youngest patient’s i have ever diagnosed {normally diagnosed at age 5}, but we are looking at ehlers-danlos syndrome. EDS. type 3.’

so what is EDS?
EDS is a collection of heritable connective tissue disorders that alters the collagen in your body.  while there are many different types, she has the most common and least severe out of them all.

piper’s symptoms:
– hypermobile joints in ‘great amounts’
– skin involvement {soft, stretchy, too thin, and easily bruised}
– pain in joints
– blue tint to eyes

putting it all together
so what does it all mean?? at this point, nothing. we need to be careful about dislocations that quickly become recurrent, but for the most part, we’re doing everything she needs.  she needs to be in physical therapy to build strength + braces to help her walk safely. further down the line, we will need to keep her in physical therapy to build + maintain strength specifically for her hips and knees.  but for now his best advice was,
“let her be a kid.”

i walked out of that appointment and honestly breathed a sigh of relief.  i felt like we finally had answers that made sense and in the grand scheme of things, sure, we have some concerns, but it could have been worse.

 what else?!

oh little miss ducky. full of sass. full of spit + vinegar, she is also the tiniest and sweetest little girl you have ever met that will melt your heart in .2 seconds. she is one determined little girl and always has proved me wrong, constantly reminding me of just how incredible God is.  SO many plans for this little girl, she meets the world each morning with a force that shouldn’t be reckoned with.  she doesn’t know any different and for that i’m thankful.  she loves her braces and happily sits while we put them on {most days}, patiently waits to get her tummy taped and adores her therapists.
talking in 3 word sentences and sometimes more, she has quite the opinion about most everything and there’s a part of me that is dreading her teenage years.  she’s sensitive and loves her baby dolls, her baby brother and her grammy.  she’s been a mama’s girl until the last week or so and now i’ve taken the back burner to daddy.  the faces she makes are the funniest things you could ever witness and she is so full of expression…she wears her heart on her sleeve.

this beautiful soul, so innocent and adoring.

i just couldn’t be more blessed to have the opportunity to raise her.

she gives me a run for my money and i wouldn’t have it any other way…maybe just one less tantrum. 😉

i love you my little ducky, your daddy and i couldn’t be more proud of you.

photo dump

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xoxo,

lindsey

 

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16 thoughts on “ehlers-danlos syndrome | piper update

  1. your girls are so cute! I’m grateful that you have answers. I always feel like i can’t breathe until questions are answered.

  2. It must be such a relief to have answers on what is going on with Piper. I’m glad that she has the least severe version of the syndrome.

  3. I am so glad you have answers. The Lord is so faithful! I love your little ducky! And your reasoning for calling her ducky reminds me of why I call Emery my little bunny!!! 😉

  4. Aww that’s such a sweet story. It’s great you persevered to find the diagnosis. Does sister also join in during PT just for fun? It looks fun!

  5. Loved this update. I know what it’s like to know that something’s not right and be so tired of trying to find the answer, and it sounds like although it’s serious, you’re doing everything you can, which is great!

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