Tuesday, March 30, 2010

A Diagnosis

Well, we have a diagnosis. Sort of. I am thinking of it as a partial diagnosis. As in part 1 of 2 or maybe 3. I should explain.

You see, it is now believed that Camille has at least two genetic conditions. The syndrome, or condition, that is causing what I consider to be the majority of her issues, is still unknown or undiagnosed.

However, we now know what is causing her endocrine/hormone problems. She has been diagnosed with a rare form of non-classical Congenital Adrenal Hyperplasia (CAH), the 3-beta form. This form of CAH is so rare, that of the people who have CAH, only 1% of them have this form. It is inherited genetically in an autosomal recessive pattern, meaning Jason and I are more than likely each carriers for it.

Or maybe not.

I should explain again.

Here is where it gets tricky. You see, this is a very rare condition. And then, whatever else Camille has that accounts for all of her other issues (small for gestational age, small head, failure to thrive, eating difficulties, developmental delay) is also rare, so rare in fact that it cannot even be determined at this time. What are the chances of her inheriting two very rare conditions from me and Jason? In other words, what are the chances of Jason and I both being carriers of two of the same rare conditions and then meeting up and getting married and having children?

Basically slim to none.

And so, what the geneticist in Houston proposed might have happened was this. We all inherit two copies of each of the 23 chromosomes in our body, one copy from each parent. Each chromosome is made up of thousands of genes. Each of us are carriers for at least 6, probably more like 10 or more, genetic syndromes (mutations on those genes). Most of the time, parents are not carriers for the same syndromes, since there are thousands. Even if they are, then there is still only a 25% chance at each pregnancy that the baby would inherit the syndrome, depending on if the baby inherited a mutated copy of the gene from each parent.

However, the geneticists believe that what may have happened with Camille is that she inherited two copies of one of the chromosomes from the same parent, either me or Jason, instead of inheriting one copy from each parent. Therefore, if she inherited two chromosomes from me or two chromosomes from Jason, basically a duplicated chromosome, then she would have a 100% chance of getting whatever that parent was a carrier for along that chromosome because both chromosomes would definitely have the mutated genes.

Have I lost you yet?

So, the good news about having a diagnosis of 3-beta CAH is that we might be able to use it to determine what the other syndrome is. If they now know that Camille has CAH, and what chromosome that form of CAH is located on, then they can look at what other syndromes are also on that chromosome, and see if any of them match Camille's other "symptoms".

The bad news? This form of CAH, as with most forms of CAH, can be life-threatening if not treated properly. Let me explain a little about what CAH is. You can also google it, but you won't find much about the 3-beta form, and you know that's coming from the Google Queen.

In a nutshell, what happens in all forms of CAH is that the adrenal glands (located above the kidneys) do not produce enough cortisol. "Cortisol is a steroid produced by the adrenal glands that our bodies need to: (1) deal with physical and emotional stress, and (2) maintain adequate energy supply and blood sugar levels" (caresfoundation.org). Deficiency in cortisol also leads to overproduction of other hormones, which we saw with Camille in the form of DHEA overproduction. This overproduction of hormones leads to the overt symptoms of CAH, like the signs of early puberty that we saw with Camille. Babies with CAH can also have ambiguous genitalia from the overproduction of these hormones, which thankfully Camille does not have.

The main issue now is that because Camille's adrenal glands do not produce enough cortisol, she could suffer from adrenal crisis, especially when her body is stressed (i.e. in times of illness). Therefore, we are going to have to start treating her with a steroid. She will take a regular maintenance dose twice a day, and then when she is sick, she will take a stress dose, which is basically an increased dose. If she were ever to get really sick, in particular, vomiting so much that she couldn't keep her medicine down, then we would have to inject her with a dose. Jason and I are supposed to go up to Cooks next week to be taught how to inject Camille should this ever happen.

Could it get any more fun than that?

And so, for the million dollar question, how are we taking all of this? For some reason, I am taking it very hard. First, it's just scary to me to hear the words "life-threatening". And, it's also scary that we are the ones who decide when to do the stress dose, or when to do the injected dose. What if we screw up and do it when it is unnecessary, or worse, what if we screw up and don't do it when we should have and she goes into adrenal crisis? Talk about pressure!

And here's the other thing that's driving me crazy. This diagnosis doesn't even account for all of the other huge stuff Camille has going on! It's not even what anyone would consider her "main" diagnosis! And so we have this new condition, which can be life-threatening, which requires more medication and more regular appointments and blood draws every few weeks---and it doesn't even explain the half of it! Or even a fourth of it!

I am really trying hard to keep things in perspective here. One, I'm thankful that this is treatable. Two, I'm so relieved that she doesn't have an adrenal or ovarian tumor, the other option of what could have been causing the hormone issues. Three, I am glad that we at least know something about what is going on in Camille's little body.

But that doesn't stop that little niggle of irritation from occurring, where I think over and over in my head, "REALLY? REALLY?" My baby girl has at least two genetic conditions that are causing her all of these problems, when most babies have none? And all of this occurred because of something that was out of our control, a random mutation that happened before I even knew I was pregnant, a "fluke" or "round of bad luck"? Those thoughts just make me want to scream and pull all my hair out, or at least have several really loaded margaritas.

But as I have tried to do from the very beginning, and believe me, I still fail miserably at it every day, I am still trying to see the goodness in this. There is certainly no goodness in any of these "diagnoses", but there is goodness in Camille. I can't believe my little girl is only 2 months away from her 1st birthday. She has become a really easy baby (everyone stop reading this now and knock on some wood nearby). She is happy nearly all of the time now, smiling, laughing, squealing, talking. She is a true joy. And we just love her to pieces.

She could have 20 genetic conditions, and it wouldn't change that.

Wednesday, March 17, 2010

Luck of the Irish?

Not sure if it is the luck of the Irish, but we are so happy to report that Camille has slept through the night with only one middle-of-the-night-wake-up for over 2 weeks now! If you have seen us recently, you may have noticed that we are a lot happier and looking a tad less like dead people walking. Let's be honest here--we still have Mr. Action and Miss High-Maintenance keeping us very busy during the day, so we still don't look great. But looking a little less like death-warmed-over is good enough for us. It's amazing what sleep can do!

And so what really caused this new change in luck? I'm going with Camille's new formula. Her new gastro had us switch her formula from Elecare to a regular ol' Similac. Wow, regular formula! That you can buy in a regular store! And not sell body parts in order to pay for it! And it apparently helps your baby sleep through the night! Greatness! Apparently, the gastro thought that the Elecare could have been "dumping" out of Camille's stomach too fast, causing pain and discomfort. He was hoping this change would help with irritability and sleep. So, we switched Camille to Similac, and the night that the transition was complete was the first night that she slept all night. Ten whole hours instead of her regular two. Again, greatness! I told our Gastro as much on Friday when we saw him again to follow-up on this new change. I gushed about how appreciative we were. I really wanted to tell him that he was a genius and then kiss his feet, but I held myself back. Again, it's that great restraint I have coming into play.

So maybe it was the formula, maybe it was the start of Spring, maybe it was that Camille has not been sick for over 2 weeks, or maybe it was that so many of you have been praying for this specific thing for us. We know that is the most likely reason!

Even so, it wouldn't hurt to have a little bit of Irish luck. The Whitts will take all of the good luck that comes our way! And so, in typical Henry and Camille fashion...






Happy


Saint


Patrick's


Day!

Sunday, March 7, 2010

Yes

In case you haven't already heard...

Yes, we are home from the hospital as of last Thursday a week ago, and yes, Camille is over her pneumonia and feeling better than she has in a long time. And yes, I did have to beg and harass our pediatrician to let us go home when we did, but oh yes, it was worth it.

And yes, Jason did get the flu shortly after we got home from the hospital, and yes, we do sometimes think we are cursed. And yes, Jason is now over the flu, and yes, we are hoping that sickness has fled the Whitt house for a long, long while.

And yes, Jason and I did attend the Baylor vs. Texas men's basketball game on Saturday, and yes, the victory was so very sweet just as it always is against the Longhorns. And yes, I did embarrass Jason thoroughly, and yes, although he did not have to pull me down by my clothing this time, he did have to remind me that there were children sitting nearby. And yes, one of those children did walk by at half-time and stick his 'horns sign in my face, and yes, I did refrain from sticking my tongue out at him in response.

And yes, Henry and Camille did stay with Nani and Papi during the game, and yes, they did have a blast. And yes, because Camille did not attend the game, it does mean that she will have to find another opportunity to wear her new Baylor cheerleader outfit, and yes, when she does in fact wear it, I will post pictures. I promise.

And yes, Camille did see another endocrinologist on Friday, and yes, he was a huge improvement over the last one. And yes, he too was thoroughly baffled by Camille, and yes, he too had no idea what could be causing all of her hormone issues. And yes, he did run more tests, and yes, those tests will take 2-3 weeks to get back. And yes, that is very annoying.

And yes, not surprisingly, all of Camille's latest GI tests did come back normal (read: unhelpful), and yes, that is also very annoying.

And yes, last but not least, I am feeling much better than I was when I wrote my last post, and yes, that probably has a lot to do with the fact that you all continue to lift us up with your amazing support. And yes, although I have said this a thousand times before, thank you.