Tuesday, October 4, 2011

Day 4 - Medical Issue

I took Ella in for her 5 year well child check up the second week of September. It was a fairly regular appointment, we were surprised to see that Ella had grown 3 inches in 3 months topping out at 39.5 inches and weighs 40lbs. We talked about her potty training issues and that Ella had not been sleeping so good, as in really restless. So, we left the doctors office with a couple of referrals and a script to go get her yearly blood work done. (For those of you who don't know it is recommended for children with Down syndrome to have blood work done each year including a CBC and thyroid levels checked.) We headed straight for the lab and got the blood draw out of the way, and as usual Ella HATED it. I pretty much put it out of my mind and carried on about our business.

Well 4 days later Ella's pediatrician called, the actual doctor herself and not the nurse which is unusual. She said she got Ella's blood test results back and that the thyroid levels were out of whack. Um okay. (It should be noted that when Ella was one she did have a blood test done and her thyroid came back as hypothyroid, but by the time we got the referral and into the endocrinologist 3 months later and they retested she was back to normal and it's been normal ever since.) The doctor said she is testing in the HYPERthyroid levels. What? I have only ever heard of kids with Ds being hypothyroid so it seemed weird to me. She said she was going to call and talk to the pediatric endocrinologist but that he would probably just want her levels rechecked in 3 months or so and if they came back off again then he would see her. She said she'd call in the next couple of days and let me know what he says. So, I get off the phone with her and am really not too worried, no big deal, I'm sure everything will be fine. Then the phone rings again, 5 minutes later. It's the doctor again. She says "the doctor wants to see her on Wednesday," it was Monday. I said "well that's kind of freaking me out," she said "me too, it usually takes a long time to get in there." Great. She tells me to call his office and tell the front staff that the doctor wants to see her on Wednesday. I call and they tell me that that doctor doesn't work on Wednesdays. I tell them my doctor just got off the phone with him and that's what he said. So they go and talk to the doctor and sure enough he wants to see her Wed.

Wednesday rolls around and I am quite nervous. We head down to the children's hospital. The doctor comes in in jeans and a t-shirt (guess it really was his day off.) He is super nice, asks me tons of questions and then examines Ella. After he sits down with me and draws pictures (mean while Ella is running around his office like a crazy person and I'm trying really hard to pay attention) of the thyroid and explains what all it does. He tells me that he really thinks that she has an autoimmune issue called Hashimoto's. That in it's very early stages it will spike into the hyperthyroid levels and then drop down into hypothyroid. He said once it goes down into hypothyroid it is much easier to manage. He also told me about another autoimmune disorder called Graves Disease and said that it is much rarer in small kids and much harder to treat and he didn't think she had it because she didn't have a lot of the symptoms. He prescribed us an Anti-thyroid and explained all the bad side effects it can have, such as liver death and lowering your white blood count thus making you more susceptible to infection, but that she would probably only have to be on that for 4 to 6 weeks because with Hashimoto's the levels will drop and then we treat for the opposite. But we had to go get Ella's blood drawn again this time to check baseline liver enzymes (just in case) and to test her TSI which is another thyroid level. He told me that he expected her TSI to be normal but they check it just in case because that is how they diagnose Graves Disease.

We leave that appointment with a treatment plan that included the anti-thyroid meds for now, blood work every 2 weeks and then come back in 5 weeks. Well, the next Monday rolls around
and the doctor's office calls and says her TSI level is 400 something..I ask what normal is, they say between 1-130something. Shit. I say so does that mean she has Graves? The nurse says well I'm not the doctor, but yes. Shit.

I of course go into a Google frenzy. So here is what I know so far. Only 20-30% of people with Graves respond to the medication, the medicine is not without it's risks but is the best option. The other treatment options are Iodine Radiation and surgery to completely remove the thyroid. No thanks. There are a lot of health complications if you don't treat so that's not really an option. Some of the side effects that we are possible seeing now are sleep issues (they have gone from restlessness to sleeplessness) and fidgeting, excessive thirst, and quick growth. But there are a lot of symptoms that we aren't seeing at all though I think having Ds throws a big curve ball as to what those effects would look like in Ella (that's for another post...) I really think that this was caught right as it was kicking off. The doctor did say though that to have the levels that she did she had to have been this way for at least 5 weeks.

The medicine that Ella is on only comes in tablet form because as the pharmacist said "kids don't usually have to take this medicine." Thanks. Mine DOES. So, I have to crush it up and mix it with something. This has been a real challenge. My child who I've always been convinced does not have taste buds definitely tastes this. It is really really bitter. Currently we are giving her a spoonful of Hershey's chocolate syrup and it's working okay, though when I open her door and let her out in the morning I am greeted with " I HATE it medicine!!!" and she runs and hides. Poor thing. The really good news is that we had her blood retested last week and they came back good, as in moving in the right direction, which means that her body is responding to the medication for the time being, and that is great!!! We go back to the doctor on the 18th, poor guy isn't going to know what hit him after all the questions I plan to dump on him!

SO, the moral of this story is if you have a child with Down syndrome make sure you do the yearly blood work. You never know what is going on inside those little bodies!!!

Here is a picture of my sweet babies, taken on Ella's b-day.


Becca said...

Oh, goodness, Kacey, I'm so sorry to hear this!!! You are absolutely right, though, you just NEVER know with our kids. I wonder sometimes, though, if so many "typical" kids just don't get diagnosed with a lot of different things because they don't get those regular screens. In a way we're lucky because we can catch them and treat them earlier. I hope Ella contiues to do well on the medication. (((hugs))) to both of you!!!

RK said...

Wow. That's alot to take in. We went to a conference at Children's back in June about medical issues in kids with DS, and this was addressed. I don't remember alot unfortunately.

So glad you caught this and have it under treatment right away. And yay for good response to the treatment!

And we agree...always get blood work done on time! I'm amazed at those who just shrug it off if there are not big symptoms.

Unknown said...

Wow! You are amazing by the way!

Kristin said...

Oh man - praying everything responds to the appropriate treatment. Not fun.

tgreeson said...

Hey Kacey,
Have you seen or tried one of these cups?


This one is the sippy version, there is a regular cup version too. We used to use them at the Dr's office and the kids did really well with them. I dunno if it would work or not, just thought I'd mention it. We're about to have our blood work done too, we have a big restless problem going on also...

Pallavi said...

Oh :(

Praying it is working well for her.

You are so right about regular blood work. Those blood draw sessions almost faint me. And that reminds me we are already over due for a blood work.. Need to get it dont asap

Unknown said...

Wow..that is a ton of info being thrown at you. However, it does sound as if the doc is on top of this issue with Ella. Which is a good thing. Carly had hypothyroid and had been on meds since 3wks of age. It only came in tablet form, which I would crush and mix with a bit of formula and shot it into her mouth with a teeny tiny syringe. As she got older, I crushed the tab's up and placed them in a teaspoon/tablespoon full of yogurt and she breezed through it. Ella will get the hang of it..she'll do fine!! I'm thankful it was caught now..rather than later! ((((hugs))))

Sweet Pea's Mommy said...

Wow! That is a lot to take in at once and I'm so glad that they caught it fairly early. You are lucky to have such a responsive doctor too! Thank you for sharing!!! I hope Ella continues to react well to the meds and that you can find a delivery method that is easier on both of you.

Andi said...

Sigh. (((Hug)))

Many non-chain pharmacies will compound medications for small children. Sarah Kate had to take an "adult" med for awhile and we always had it compounded into a flavored liquid. You might want to inquire if that might be an option.