Friday, July 24, 2015

Another New Diagnosis (AKA The Never Ending Story)

Although formally our new school year isn't starting until August 3rd, we began our new literature studies this week as well as keeping up with math and some chemistry experiments.  Amber is having a great time so far with Illuminating Literature and even asked if we would be using it all school year, because she'd like to continue with it. Thankfully, that was my plan.

I finished almost all of our school planning this week too. It took days but history is entirely planned, entered into Homeschool Tracker, binders made, timeline ready, and other printed portions put into a binder for Amber.  I also made sure the lesson plans included every last possible detail so Amber can view her assignments online without coming to me when she is ready. After all of this I plugged the plans into the scheduler tool to project when she might finish history this school year... it's January. Seriously? I really hope I underestimated how long each topic is going to take, otherwise I'll be planning all over again in December.

I did manage to clean up the plans and post our medieval history lesson outline that was used for the majority of last school year. It doesn't include anything we did from Tapestry of Grace, because that is their copyrighted information. Still, it is all the plans I took months to create before realizing Tapestry of Grace fit with what we wanted.

Chemistry - building molecules.
And earlier that day the overflow storm water drainage swale went from dry to this in less than an hour. To say it rained here would be an understatement.
This was also a week of health learning. My barium swallow last week resulted in "normal" results. It was the easiest of the barium tests and only took 10 minutes, but the solution I had to drink upset my stomach and intestines for days. There was something in it that my body does not like. Wish I knew what it was since it isn't supposed to have that reaction. I was scheduled to take the fructose malbasorption breath test yesterday to help determine what foods are causing the problem, but the preparatory diet was not compatible with my diabetes. I got quite low before finally calling and canceling the appointment so I could eat properly to fix my blood sugar. In lieu of the test, I'm on the low FODMAP diet with Amber to see if it helps.

Amber's upper endoscopy test results were supposed to be back this week, and I guess technically they are, however her GI doctor is out of town so we can't really get information on it. That's okay, I'm good with waiting for now. I can only take so much at a time.

After a huge circle of doctor referrals and records requesting, we took Amber to her first rheumatology appointment on Tuesday. Thankfully, it was with the Washington University / Children's Hospital pediatric rheumatology department which makes it much easier now that she has been forwarded on to genetics at Washington University. Amber was diagnosed with Ehlers Danlos Syndrome - Hypermobility type (formerly type III), however that could change to the Classical type (formerly type II) after genetic testing.

A sample of hypermobile joints.  Her hips move quite a bit they said. Her left hand (shown) is less flexible than her right. She can actually put the thumb behind her wrist, but not when she's trying to show her top thumb joint at the same time. -- Also sitting like a normal person :)
Ehlers Danlos Syndrome (EDS) is an inherited connective tissue disorder related to collagen production. All of the various EDS types use genetic tests for diagnosis except Hypermobility, which has no known genetic marker and is diagnosed through clinical exams and family history. Amber also exhibits symptoms of Classicsl EDS, but can't be diagnosed with it until the genetic testing is complete - in June of 2016.  Yes, you read that correctly. The first available genetics appointment with the pediatric EDS geneticist is in June of 2016.  Amber is on the wait list for cancellations though. (as a side note, we had a 9 month wait for Fred's genetic testing after his pheochromocytoma, so this is pretty standard).

Thankfully the treatment for both Hypermobility and Classical EDS is the same, it really is just a matter of being more specific and knowing for the future if there are changes in treatment between the types. Basically, she can't do anything that hurts her joints. If it causes pain, she is to stop. No impact activities. The rheumatologist said to swim; Mayo doctors said only upright exercise and specifically no swimming. We need a balance between the needs of her two conditions.

She needs physical therapy to strengthen muscles around her weakest joints. But that therapy won't happen until after she sees genetics because they are also the best EDS clinic in the area. Additionally the attending rheumatologist suggested Amber eventually have an echocardiogram since EDS can result in mitrovalve prolapse. I'm on the fence about requesting that through the pediatrician or waiting for the EDS clinic. The one doctor Amber doesn't have is at home is a cardiologist, though she saw one at Mayo. I might be ok with waiting, maybe.

Relaxed and playing games on her iPad while waiting for the rheumatologist. She amazes me. Then dinner afterwards.
And... a happy girl head bobbing and singing to Journey during dinner at McAlister's.
Amber is relieved and happy to have this diagnosis. She has known for years her joints weren't right. The kid can turn her feet backwards in a somewhat disturbing position. The rheumatologists (both a resident and an attending) took pictures because she's the most hypermobile child they have personally seen. They were pretty freaked out by the range she had on her fingers too. She can bend them nearly all the way backwards to her hand - but she's not always been this way. It's gotten worse over the last few years.

Again, I was in slight denial and figured they would tell me she was just somewhat flexible. Amber laughed at me, again. I'm stunned every single time she gets a new diagnosis. I really keep expecting it to all be our imagination or something. It's like a dream I'm not waking up from.

We definitely aren't going to have to worry about health credits for high school anymore. Amber will have plenty of education and therapy due to the EDS and dysautonomia / POTS.  As a side note, it's probable her dysautonomia is caused entirely by the same gene mutation which resulted in EDS. Of course it doesn't bring us closer to a cure, but at least they seem to be related and we aren't looking at two distinct causes.

That's the big news from here for this week.  I'm really hoping next week is less eventful.

Happy Weekend!

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  1. I love to see Amber's smiles. She is such a pretty young lady. I am glad you got a diagnosis even though each new one is overwhelming and scary. We are praying for someone to figure out which exercise will be safe for her. Here is hoping that next week is uneventful.
    Blessings, Dawn

  2. I understand the denial bit all too well. Would something like aqua aerobics work for her? I just love it when two doctors give conflicting restrictions. As always we will keep her in our prayers.

    1. I'm actually in discussions with the gym where we have our membership to get special permission for Amber to take the water aerobics class, assuming I take it with her. The minimum age for the class is 16; she is 13. The staff doesn't think it will be a problem to get permission, but we may have to sign a waiver that we acknowledge she is younger than recommended. Seriously, we have seen this class while there for other things. It's very aged people. Even Amber in her condition can do more than those people. I'd think they would be more of a risk than Amber. At any rate, waiting on permission to enroll us in the class. I was told we might have to contact their ADA (Americans with Disabilities Act) representative with documentation as to why she needs the class. It's all pretty silly.

  3. Wow you poor girls! More diagnoses on top of unanswered questions from other diagnoses. Yikes! Well all I can say is to be patient. Soon you will have everything you need... all the answers.... things like this take time and you already know that. I just wish things were more simpler and that Amber was a healthy child. On a bright note, I am happy to hear that you are organized already for the new start of the school year. Amber seems excited to keep up with her studies and I think that is fantastic. I wish my child was that happy to do a subject LOL. I hope you gals enjoy the rest of what is left of summer. Have a great weekend!

  4. I'm sorry you guys have such a lot of health issues going on at the moments. Your daughter is such a soldier though, always with a beautiful smile on her face!
    I am able to do just what Amber does and can get my body into very weird positions! My thumb is the worst though as it pops out of its joint regularly. I was a trained massage therapist and aromatherapist but my thumbs weren't strong enough for the massage strokes. I kept having to stop and push my thumb back in (so not very, very relaxing for the clients!!)
    I hope you have a really peaceful week this week without tests and results to worry about.xx

    1. Ugh. Amber says it's painful when they pop out. Sorry yours do it too. Her dad is hypermobile too, but not to the extent Amber is. She has many hypermobile joints, it seems most of them are. She can do a reverse namaskar sign (behind her back). It's freaky. And her ribs sublux all the time - multiple times a day. You can feel things move that shouldn't when you hug her. It's crazy.

  5. I can't say I'm happy about the new diagnosis. Even though you were suspecting it, I'm sure the official diagnosis is devastating. Then to add conflicting exercising advisories on top of it all, you must be going nuts! At the very least, you can now develop the proper treatment plans. I didn't realize that you and your husband also had quite so many health issues, Christy. I'll continue to be praying for you all. I hope that the proper diets and treatments will help make life more comfortable for you all!

    1. Thanks Sylvia. My husband is probably the healthiest of us all, except for his one-off crazy pheo 3 years ago. It does look like Amber inherited the EDS from him, but he does not have the severity or even the POTS to go along with it. Maybe. There was some oddness from his younger years that was undiagnosable then, but now would be. I'm something of a mess :) I have good months and bad ones. The diabetes is well controlled and fairly mild. I've had it since I was in my twenties. My intestines hate me. They just do. That's the gist of the rest of my problems. :)

  6. So sorry to hear that your daughter has EDS Hypermobility type. I have this type and POTS, too. The first thing they did was the Echo test. It's important to have that done, and it also rules out Vascular type ( from what I've been told). The Physical Therapy should help her sooo much, as it did for me. I didn't get diagnosed until age 53, so I'm glad you got this early diagnosis. God bless you both as you search for the best health and help :)