Wednesday, September 29, 2010

8 Years, 10 Months.

8 years, 10 months.

Wondering what the significance of that number is?

It's not my age {though I might possibly act that age on occasion}.
It's not a birthday.
It's not our anniversary.

It's how old Mercy's bones are.

{double take}

What? But she's only *counting years on fingers* 6 years and 1 month old. And 10 days, if you want to get technical. How is that possible?

Because Mercy has something called Congenital Adrenal Hyperplasia. Ever heard of it? We hadn't, until about two weeks ago when the pediatric endocrinologist called to tell us that M's bloodwork had come in and that's what she has.

Need a bit of a rewind, don't we.

Anyone who's met Mercy has noticed how tall she is. Let's be real, she's a giant for her age. The tallest in her class, despite being the youngest. People don't expect it when we say that she just turned 6 last month. She also had some other things going on that I'm just not really okay with putting out there in cyberspace, but suffice it to say that finally I had enough and after talking with a good friend about my concerns, I was finally validated into feeling that I wasn't being the paranoid momma and that we needed to have a good talk with our pediatrician. Our pediatrician rocks. Really, I absolutely adore him. He remembers things that are going on with our kids {or at least bothers to write it on their charts and then read their charts before our appointments} and most of all, he TAKES ME SERIOUSLY. That's my biggest thing, after our last pediatrician blew me off about my concerns with Mercy's lack of speech at 2 years and made me feel like a worrywart. Thanks again Dr. L. So glad we're not with you anymore. Anyways. We went to the office at the beginning of June and I started telling Dr. Smith about my concerns with M's growth and other stuff, and began to feel like I was being overly paranoid. But he immediately did a physical on her and agreed with me that something wasn't right. WHAT?! I wasn't being paranoid? Dr. Smith wrote me a referral right there to go see the pediatric endocrinologist department at UMC in Tucson, and told me that while he didn't know exactly what was going on, we needed to get this checked out as soon as we could. Doctor crush, right there.

Being that they're the only pediatric endocrinologists in southern Arizona, our appointment was at the end of August. The office was great, the nurses very sweet, and Dr. Wheeler was awesome. He asked us for every concern that we could think of, even if it was small. He wrote everything down that we told him. Her height, her starting to get acne, her other things. He noted that she was diagnosed with a moderate to severe speech and social delay, but that she'd surpassed them and was excelling in school now. Just everything possible we could think of, he noted it. He did a thorough exam on her, and gave us a list of tests he wanted run. He wanted a bone scan and blood tests to the umpteenth. He explained that he didn't know what was going on, but that the bone scan would tell us the age of her bones, and the blood tests would tell us what was out of sync in her body. Very kind, very caring and very serious about finding it out. Mercy was a trooper, an absolute trooper. When we went to get her blood taken I got mine done at the same time {for the pregnancy} so that she would know what was going on beforehand. She didn't even flinch when the tech put the needle in her arm, all she said was "that hurt". They took 6 vials that day, just to give you a guess at how many tests the doctor had ordered. Six vials from my 6 year old. She thought the bone scan was pretty cool, even though they didn't show it to her then.

Then, about two weeks ago Dr. Wheeler called me and told me that the tests had come back, she has something called Congenital Adrenal Hyperplasia and was not producing enough {or any, I can't remember exactly what he said as I was trying to process it all} cortisol so we needed to get her started on taking hydrocortisone pills. Basically she lacks an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone. Without those hormones, her body produces more androgen, which is a type of male sex hormone. If you really want to know more, I found the CARES Foundation to really be helpful but not overwhelming.

So what does this mean? She'll take hydrocortisone for the rest of her life, but CAH patients have normal lives for the most part as long as they keep up on their meds and are watched by their endocrinologists. This is not something she'll outgrow or be cured of. She'll most likely be on the shorter side of normal height due to the rapid growth early in childhood {which is why her bones are older than she is}, she'll stop growing when most kids are starting their main growing period. She may have fertility problems. Not so worried about that one just yet. Again, if you want to know more, the CARES Foundation website is really informative. CAH is the most common genetic "disease", so in our own way, we're lucky.

And yeah, it's genetic. In order for someone to have CAH, both their parents have to be carriers. It's recessive, so carriers don't have CAH themselves. The odds go something like we have a 1 in 4 chance of having a child who is unaffected, 2 in 4 chance of having a child who is a carrier but unaffected, and a 1 in 4 chance of having a child with CAH. The boys are going to be tested for CAH now, since it isn't as obvious in boys as in girls {due to boys having androgen present anyways}. And we're not sure what to do about this baby. The endocrinologist said the only way to really know is with an amniocentesis, but we are most likely not going that route since the risks outweigh the benefits at this point. We'll have our "big" ultrasound at the end of October and we'll see what they see then, I suppose, and take it from there.

Whew. That felt therapeutic. I still feel overwhelmed at times, but I'm trying to remember how lucky we are that this is all it is, if that makes sense. When we were talking to the endocrinologist on Tuesday, he told us they had a little newborn at UMC right now who has a severe form of CAH and is fighting for his little life right now. We made it six years before the CAH was diagnosed, which means she has a milder form called late onset CAH. Mercy is happy with the idea that she gets a pretty new bracelet that she has to wear all the time {she has to get a medical alert bracelet-if something happens to her she needs to triple her hydrocortisone or else get a shot of hydrocortisone, to keep her from going into adrenal crisis} and always reminds us to give her the pills at breakfast and dinner.

She's still Mercy, we're still us, just a bit wiser.

Mercy's bone scan. She was 6 years exactly when it was taken. Her bones date at 8 years, 10 months. That's a 2 and a half year difference.

9 comments:

kate bentley said...

♥♥♥

The Wheeler 5 said...

wow! knowing what is going on at least is good. might i say that i am impressed with all those huge words. i wouldn't spell them right ever!

The Bennett Family said...

Wow! You all have had quiet the fall. What a blessing to have such a great dr. You guys will be in our prayers. I know that we don't live close or anything, but if you all need anything don't hesitate to ask. Your family is beautiful!

Becca said...

You guys sure have had a lot going on recently to say the least! I'm grateful you have good doctors who listen and care! Just know there are lots of people who love you and are praying for your litle family!! xoxoxox

Amber said...

That is amazing that they were able to determine that. Thank goodness we have modern technology to help with this kind of stuff. Way to go Mercy and you are such a good trooper!

Mary Lynn said...

Wow! I'm glad you were a "paranoid" mom! That's how I felt with Jake's Perthe's disease. Kids are troopers and handle it much better than we do I think. You guys are awesome! :)

April said...

{hugs} I know it was hard to talk to the ped originally about this, but so glad you did.
Call/Text anytime, you know that.

John and Jessica Tilton said...

Holy cow - had no idea what was going on. Wow, what an ordeal. Way to go for being willing to go to the doc! I hate feeling like a paranoid mom, but in my experience, if you're paranoid enough to risk making a fool of yourself, there's usually something wrong. Wish you luck with getting used to all the changes. Thinking of you guys.

Minky {moo} said...

Wow. I've never heard of this before. What a thing to wrap your brain around. I am glad Mercy will be ok...that heavens it is something that she can and will live a happy life with.
But wow, hugs to you. What a stressful thing to go through. Well done trusting your instincts! No one knows a child better than their mother.