Anna has yet another diagnosis

I first took Anna to an endocrinologist in the fall of 2009. Her behavior was all over the place and since we were seeing signs of premature puberty (Anna was 8 at the time), Anna’s neurologist suggested we see Dr. Scott, a pediatric endocrinologist. We ran some tests and discovered that Anna’s bone age growth was almost 2 years advanced and that her hormones were a mess. At the time, Risperdal was blamed and we switched her to Abilify (these meds are typically prescribed for bipolar disorder and are good for children with autism who have anger, mood, and impulse control issues). Her behavior improved and the hormone prolactin went back to a normal level but her thyroid hormone was still elevated enough to warrant following up every 6 months or so. There were a few other things to keep an eye on too.

I was supposed to take Anna in for a blood draw late last fall and I did, but it didn’t go well. Instead of driving down to the children’s hospital, I took her to a lab that was close to our house where we’d had a successful draw in the past. She was freaked out, of course, and I counseled the technician on how best to handle it. But… well, Anna was poked three times and we left with no blood drawn and a very distraught little girl. I called the doc and let them know that I would try again around Christmas but Anna was traumatized and since she was essentially doing so much better, I wasn’t worried about putting it off.

Dr. Scott’s office called a few weeks ago to remind us of a follow-up appointment we had that next week and I remembered that I never went back to get the blood work done. Oops. So I called to reschedule. In the meantime, we also had a visit with the neurologist… actually the practitioner. She was concerned about Anna’s recent cycles of falling down a lot, extreme fatigue, and behavior problems, and she suggested that the next time Anna was in the midst of one of these cycles that we get her in for an EEG. It’s been a while since Anna’s had an EEG and I don’t look forward to another one. Anyone with a child who has sensory issues knows how hard it is to get the wires glued on. So I mentioned this blood work that we needed done and she added another test to it and we went upstairs to the lab (Anna’s neuro is located at the children’s hospital). Anna was a trooper! I figured we’d get a call if anything was off with the results.

For the last several weeks, Anna has been very, very tired. She’s fallen asleep with my mom over the weekend during the day, even after a good night’s sleep. (The photo below is of Anna and Nana… they have a very special relationship and I’m so grateful to have my mom next door… not only is she a wonderful help to our family, she is my best friend.) Anna has been falling asleep at school regularly too which is highly unusual. She’s been falling down a lot… though that happens in cycles. I’ve been really worried that this might be seizure activity. She’s been complaining of pain in her back, hips, knees, and muscles. She’s also been having a lot of trouble focusing. We’re having to repeat ourselves multiple times for her to understand what we are saying. So I knew something was going on.

I called the endocrinologist on Friday to see if the test results were back and to get that appointment scheduled… left a message in the early afternoon and honestly didn’t expect a call back until Monday. Within 20 minutes, the phone rang. The nurse said that Anna’s results were back and that there were some abnormalities. Doesn’t every parent’s heart race when you hear this? Mine did. First Anna’s vitamin D level was nearly nonexistent. So they wanted her to start taking 50,000 units once a week. Then the nurse said that Anna’s TSH level was very high and that she has hypothyroidism. The nurse gently chastised me about why it’s important for me to get her levels checked regularly (and the mommy guilt begins). They wanted Anna to start on Levothyroxine immediately, 50 micrograms once a day in the morning. She can’t eat for 30 minutes and can’t have anything with iron or calcium within 4 hours.

Hypothyroidism. Wow. Essentially Anna’s thyroid gland has stopped working and the effects of that cause fatigue, weight gain, bone and muscle pain, and a slow metabolism. It explains a lot, doesn’t it? So… this isn’t a devastating diagnosis. But it is one more thing that my little girl has to deal with for the rest of her life. One more medication that I have to make her take. And this one is a giant pain in the butt. She likes to eat when she first wakes up so now she has to wait. She can’t swallow pills so I have to dissolve the pill in one teaspoon of water and make sure all of it gets swallowed. Anna loves milk in the morning and now she can’t have it. So now I have to wake her up 30 minutes earlier to take the medicine so she has time to eat before leaving for school and I have to withhold her beloved milk. This is going to be a very early wake up time indeed next school year when they make her go to a different school. But the good news is that she should start feeling much better in the upcoming weeks and have more energy. It would be good for her take off a little weight too. With her hypotonia, her posture has gotten so much worse. I feel so bad that I didn’t get the blood work done last fall when I was supposed to. Her TSH level is 9. The normal range is 0.3 to 3.0 (as of 2003, revised by the American Association of Clinical Endocrinologists). So she is pretty high. We’re supposed to get levels checked again in eight weeks. I hope the medication works.

Her current list of meds now include Abilify (for mood disorder), Lexapro (for anxiety), DDAVP (reduces kidney function overnight), melatonin (to help her fall asleep), Miralax (for constipation), Diastat (emergency seizure med which we’ve only had to use once <knock on wood>), Vitamin D (for deficiency), and Levothyroxine (for hypothyroidism). Ugh. So many chemicals. It doesn’t seem right.

I’m wondering if this new diagnosis would give the geneticist another clue to the Anna puzzle. I feel like every year or two, we get another piece and another piece and another piece. Eventually, we’ll see the whole picture. What concerns me is that Anna seems to be on a very slow decline. She was not nearly this complicated as a toddler. It makes me wonder if it’s something involving mito since multiple systems are involved, but finding out for sure requires a muscle biopsy which is fairly invasive. Honestly she is doing well enough that this isn’t warranted yet. I don’t feel like she’s in any danger of becoming ill; it’s more that I worry about what future complications she’ll be dealing with. Will she get fibromyalgia like me? Will she have early onset arthritis like me? How will Anna cope with medications and challenges as an adult? How will the genetic connective tissue disorder that runs in our family affect her? How will these things affect Jenny and Dominic and their children? These are the questions that plague me as I try to fall asleep every night.

I just to wrap Anna in a big bubble of love and keep her safe. She is so special to us.

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