Another day, another diagnosis

If you know our family, or have read this blog often, the first thing that probably came to mind upon reading the title of this entry was "ok, what does A have now?"

If so, you're right. It's not that she's a sickly child, exactly, it's just that she seems to accumulate rare conditions at a faster rate than the rest of us. Certainly, she's had more diagnostic tests than the rest of us combined. We've started to look at it as her way of ensuring we have enough material for the annual holiday letter. What else could it be?

A had her first formal diagnosis soon after she joined us. As is often the case with her, first she had to go through a lot of testing and multiple-doctor consulting before they finally put a name on what she has. A name isn't exactly necessary, except that it gives us a way to identify the set of symptoms that she has so that we can get help treating them. The name most certainly does not define her. In fact, the only name that comes close to defining her is the nickname that her father gave her: The Reigning Queen of Pink, Grand Duchess of Fluff, and High Protector of Barbies. I suppose that calling her a "hausfrau" also works (her favorite gift ever was the vacuum cleaner her aunt gave her), but it lacks that je ne sais quoi that the other nickname has. Besides, it's spawned another nickname - her great-grandmother, also a fan of pink, is now known as the Queen Mother of Pink.

That first diagnosis was Incontinentia Pigmenti. Try saying it three times fast, or even spelling it without looking at the word. Never heard of it? You're not alone. Most doctors we see last heard of it in medical school. Whenever I encounter someone who has heard of it, I practically weep with joy because I don't have to explain it. Someday I'll write a post all about it - I've always found it comforting and fascinating to read about others' experiences with the condition. I should give back. For now, I will tell you that it means that she had a weird rash as a baby. Since then, the main effects have been cosmetic. She has alopecia (bald spots) on her crown. Most of her teeth are missing and some of those that exist are peg shaped. According to the dentist, she had 14 baby teeth and will eventually have 12 adult teeth. According to my calculations, we will need to win the lottery so that we can afford to buy her some teeth some day. To her credit, when people ask her what happened to her teeth she just tells them that mommy and daddy are going to buy her some teeth when she's older. At six, this isn't such an issue. As she gets older, she may feel self conscious. I hope not. She's fierce and we've taught her to revel in her individuality.

The next big way she made her mark was to lose a kidney. The OB swears that the ultrasound taken when I was eight months pregnant shows two kidneys. The ultrasound taken last fall only shows one. We've had her check under her bed, in the closet, etc., to no avail. Who knows. She also now has a kidney stone in that solitary kidney. We found that after she peed pink on Mother's Day of this year. After a visit to the ER, we followed up with her nephrologist. I explained that A was clearly suffering from pinkatitis. A was thrilled - even her pee is pink! I love that she finds joy in what other kids would be freaked out by. We're still monitoring/treating/pondering the kidney stuff.

While the kidney issues were ongoing, A was also complaining about stomach pain. Some were tempted to write it off as kidney stone pain. I didn't think so and luckily we have a good working relationship with her pediatricians. They ran some more tests and eventually referred her to a gastroenterologist, who ran even more. Another wonderful thing about A is that even the tests no longer freak her out. Blood tests are a piece of cake and peeing in the cup is de rigueur for a doctor's office visit.

We talked to the gastroenterologist about reflux, which didn't seem to fit. Allergies seemed more likely, except that she'd been re-tested last year and had negative skin prick tests to the foods she'd tested positive to a few years back. In the last few months, she'd been back to the allergist for a cough that disappeared once we removed soy from her diet. Before that, the allergist had her do a trial run of Zantac and took a chest x-ray as a precaution. The x-ray was clear, but showed an enchondroma (benign tumor) on her rib. We're following that with an orthopedist and wondering how she managed to develop yet another condition.

The stomach pain had kicked into high gear shortly after we removed soy and substituted lactose-free milk. We took that out and the pains subsided, but didn't go away. The gastroenterologist took all of these events into consideration, along with the negative results to the testing he'd ordered, and concluded that it would be best if we bit the bullet and had him perform an endoscopy to check out her insides.

The endoscopy was scheduled and we prepped A by telling her that the doctor would put her to sleep before he took pictures of her insides. She told me that she'd need to bring some books with her because she always reads before she goes to sleep. Seriously, I adore this kid.

The endoscopy was relatively easy. The most painful part was the $250 co-pay. The best part is that A got to see pictures of her insides, which were pink! Life can't get much better than that.

Now, I'm a research fiend. I must know everything about the topic I am obsessed with at the moment. This serves me well with her IP, since I often have to educate doctors about it. I've been asked by more than one if I'm in the field. LOL So, it shouldn't be particularly surprising that I had researched her symptoms and come to my own conclusions about what she had. The doctor seemed a little surprised when he called on Thursday and told me that A has Eosinophilic Esophagitis, and all he got in response was "ok". I eventually had to tell him that I'd done my own research, which made the rest of the conversation fairly simple.

Less simple is what follows. She has an appointment with their EE clinic to have further testing by the allergist they work with. She'll probably have to go on an elimination diet. We will certainly have to remove the problem foods completely from her diet.

Upon sharing news of her latest diagnosis with others, one response I got was 'Oh, how awful, she won't be able to eat anything' - basically, her life will suck. Sure she'll be able to eat. We'll just have to adjust the types of foods we make for her. Our food bill may suck, but her life won't. If we have anything to say about it - and we have plenty - she'll just look at this as another fun adventure. She's brought us on so many already. What's one more?