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.