Tuesday, April 29, 2014

Double News Tuesday

Today I got a very important letter, and a very important phone call. I'll start with the letter.

A couple weeks ago, I called our local regional center to see if Nathan would be eligible for services because of his cleft palate and chromosome 22 duplication syndrome. I left a message for intake, never heard anything after a week. Finally, I called Julianna's case worker, who is amazing, and she gave me the direct email for a person who works in intake. Emails are always much faster. Within two days, I heard back by email, and got a call that same day. I was asked many questions about Nathan's development and health concerns, and I was told she would send these answers for review and I would find out in 2 weeks if Nathan would qualify for early start services.

Well, it didn't take two weeks, it only took one, so I was surprised to see the letter so soon. After reviewing the case, Nathan will qualify for an early start evaluation to determine if he will be eligible for services, such as speech therapy, in his case, or others they think he would qualify for based on their evaluation. Now I am not too concerned yet about his development, especially after having the tubes placed again, but after what I've been through with Julianna, my attitude is better safe than sorry. If I am able to get these great resources for free, in my home, it's only going to benefit Nathan's development, and me as a mom. So we will see what happens with that.

And then later this afternoon, I got a call from the pediatrician's office about the blood test that was done for Julianna almost 3 weeks ago: the microarray test. This was the same test that Nathan did, and it was discovered that he had the duplication of chromosome 22. Because this duplication usually affects children from the same family, often in different ways, I thought for sure that Julianna had the same duplication. And I thought how neat it would be that because Nathan came to our family, we would find out exactly what has been causing Julianna's symptoms all these years. It was going to be a "full-circle" moment for me, where you realize why you were supposed to have another baby, where your baby was the key to unlocking your other child's mystery. Well, that wasn't the case.

Julianna's blood test came back completely normal. I could not believe it.

The nurse on the phone casually shared the info, and I took a while to respond, because I really, really thought it would show that duplication. She seemed in a rush, as they usually are, and told me to have a nice day. But if she only knew what she had just told me! Since last August, when we found out about this duplication of Nathan's, and his geneticist told me that Julianna very well might have the same thing, I felt like Heavenly Father had an even greater plan for Nathan coming into our family by revealing this secret in our chromosomes. But it was not meant to be.

What does this mean for Julianna? Nothing, really. She will go on getting the same services as before, and I will continue to raise a daughter with about 7 different diagnoses. I was really hoping for the chromosome duplication, because in a way it would solve the mystery of her entire life, and then it could just be one diagnosis. Again, not meant to be.

What does this mean for me? Well, if we ever decide to have another baby, that baby would no longer have a 50% chance of inheriting the same duplication. Because Nathan is the only one who carries it, he is considered de Novo, or first-generation carrier, something they can't explain at all. I guess that is a relief to know that any future children we might decide to have will be exempt from a cleft palate.

I sure have learned a lot being a mom to these beautiful kids. But my journey isn't over yet. At least it's a little clearer today.

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