Saturday, May 29, 2010

Thyroid Hormone Resistance And Aspiration (Oh MY!)

This has been a crazy few weeks. May 26 was Our Bundle of Joey's one year bloggiversary (it was also my 6th anniversary as a lawyer but these things have been lost on me these days as I have been consumed with Joey). I had hoped to have 100 posts by then and to do something special for the 100th bloggiversary post. God had different plans for us this last two weeks.

Joey came down with a nasty sinus infection last week. By Sunday I could tell it was a full blown infection so I took him to urgent care. We had been to the lab earlier that week to have his blood redrawn after several abnormal white blood cell counts had been observed in his one year well baby check up labs. We also had to have blood drawn for the more thorough thyroid panel that was ordered by the pediatric endocrinologist when we first saw him back in March after Joey's initial thyroid screening had come back slightly abnormal.

So on Sunday while I was at urgent care with Joey, the doctor pulled up his labs from earlier that week. Mind you we had not yet gotten any phone calls from the lab, or the doctor regarding the results of these latest tests. I was watching over her shoulder as she opened the computer screen and saw that most of the tests that had been ordered were appearing on the screen in red and to the right of them it read "ABNORMAL."

The white blood cell count had finally (despite the sinus infection) come back as normal. However, mosts of the tests ordered by the endocrinologist were far from it. The doctor did not tell me what they were or what they meant. She simply asked me if I had a follow up scheduled with the endocrinologist. When I told her we had an appointment for June 15, she said she would not wait and that I should call their office on Monday, Tuesday at the latest. So I did.

On Monday I called and informed the endocrinologists office that we had had the blood work they ordered done and the pediatrician had told me to call them immediately to see if they wanted to see Joey before June 15. They indicated that they had not yet seen the results of his bloodwork, but would call me back. Tuesday morning I got a call back and Dr. Prakasam (who I was told does not ordinarily work on Wednesdays) wanted to see Joey on Wednesday. (it had taken several months to get an appointment with this doctor previously, so now I was alarmed that he was wanting (and able) to see Joey on such short notice. After we got there the Doctor came in and immediately picked Joey up and held him for a few minutes while he talked to us. I now know that although he was just holding him, he was conducting an exam.

He started by explaining to us the difference between hyperthyroidism and hypothyroidism and how the pituitary gland releases a hormone called TSH (Thyroid Stimulating Hormone) and that hormone tells the thyroid gland to release thyroxine (T4). The T4 hormone is then converted to triiodotyronine (T3) where it is utilized by the body, mainly the brain and liver. If the TSH reading comes back low and the T4 hormone levels come back high then one has Hyperthyroidism. Conversly, if the TSH is high and the T4 is low then one has Hypothyroidism. He further explained that thyroid issues are fairly common for people with Down syndrome and that 98% of the time the issue is hypothyroidism.

Then he turned to Joey's thyroid function results. Joey had normal TSH levels and only a slightly elevated T3. The problem was with the T4. They did a test called a Free T4. Normal Free T4 levels are between .8 and 1.8. The max level the lab can measure is 6.5. Joey's Free T4 came back >6.5 meaning it was off their charts.

With that high of a Free T4 reading the doctor explained that technically, Joey is hyperthyroid. However, (by holding him) he could tell that he does not exhibit any symptoms of hyperthyroidism. Such symptoms include nervousness, weight loss, frequent bowl movements, tachycardia (increased heart rate), elevated body temperature, hyperactivity, dry brittle hair and hair loss, dry skin and insomnia. While some of these things have been present in Joey at times (the elevated body temp, fast heart rate, hyperactivity, frequent bowl movements) he does not otherwise appear to have Hyperthyroidism (which the doctor assures me is obvious).

So where does that leave us? Good question. I am not sure and neither is the doctor. He told us he needed to do some research and needed to order some more tests (but first he needs to figure out what the tests are that he needs to order). He said he suspects Joey has Thyroid Hormone Resistance, an extremely rare disorder. In the meantime, while we wait for him to research and order further tests, we are to be on the lookout for symptoms of a Thyroid Storm and were told to go the emergency room should Joey start exhibiting any of these symptoms: Unexplained high fever, profuse sweating, tachycardia, respiratory distress, agitation.... frightening...very frightening!

Next, Joey had his swallow study. Finally. Eight months after the STAT referral to the speech pathologist and request for a swallow study by the pediatrician. And it confirmed (what I have been telling the doctors since Joey was born) that he is indeed silently aspirating liquids. Now what you ask? Again, I have no idea! the Speech pathologist is going to review the tapes from the swallow study more thoroughly and issue a report and request for authorization to insurance to begin treating Joey (how? I don't know). She said that once she determines which consistencies and substances were giving him the most difficulty, we can come up with a plan for modifying the way we feed him and what we feed him so as to minimize the aspiration.

It is a good thing we have been prophylacticly giving him breathing treatments of steroids and treating his reflux with prevacid as these two measures have likely, according to the doctor, been the only reason he has not gotten chemical pneumonia from the aspiration. Again we were told to be on the lookout for various signs of pneumonia and to get Joey to the hospital immediately if we notice any of those symptoms.

So anyway we have been (obviously) very busy (and not in a good way). On top of it all I have a trial set to start in an employment disability discrimination case on June 8 and a lot of work to do to get ready for it which is why I am doing this post from my office this morning (and explains why there are no cute pictures to include) they are all at home. If anyone has any experience or information with respect to either of these two issues I would appreciate it.


  1. Oh dear Cori! Hang in there. You are doing everything for your baby boy and they will figure this out! He's a very strong boy so I have no doubt he'll come out of all of this with flying colors! Let me know if you need help this week with anything...or a date night with your hubby...I'd be happy to have Joey over.
    Big hug!

  2. I'm so sorry that the past couple of weeks have been so crazy! I am glad that you got in so quickly with the endo and I really hope he figures this out quickly. As for the aspiration, please keep us posted and let me know how they go about treating it. We are currently in the middle of this as well and the speech path doesn't want to put her through the swallow study as she is fairly confident that she is aspirating. What were the signs of chemical pneumonia?

  3. I am so sorry to here about your last couple of weeks...My Maddie was also just diagnosed with a thyroid issue thursday...I think I am still in denial...I learned alot from this post and will contact Maddie's dr. Tuesday...her pituitary gland is working way to she is now on meds for life...I am hoping this is going to help...we will find out in 6 weeks...thank you for the of luck...smiles

  4. Gosh, Cori, I'm sorry the last few weeks have been so rough and that little Joey is having some health concerns. I'm glad you have a doctor that takes action quickly and is working on finding a solution. I'll keep you and your little man in my prayers for healing and answers. {{HUGS}}. Sounds like we need some sista time!

  5. I'm so sorry that Joey's having a rough time - and that it's been extra rough on you... I hope you get answers soon!! Your in my thoughts... sending love to you and Joey.

  6. A proper diagnosis of hypothyroidism is not always possible from your health practitioner because the symptoms are often mistaken for other issues. I only trust natural thyroid and nothing else.