Thursday, January 9, 2014

Prayer Needed for Upcoming Appointment

This Friday we re-visit a geneticist. It has been several years since we last went. The last time we went we didn't have as much information as we do now. That is when we found out that she had a micro-deletion.

Over the last couple of years Bug has developed arthritis, seizures, tremors, Raynauds Syndrome, has been put on the Autism spectrum, and that is just a few things.

We also just last week received and email from one of the rare chromosomes organizations that we have membership with. Their is another child with almost the same deletion. Their are some slight variations. It doesn't take much of a difference to make it completely different medically. He has a few things that Bug doesn't have.

He is diagnosed with Kabuki syndrome. Which is something that the specialist told me about in the beginning. Then they decided she didn't fit into the syndrome because of such and such issues. Really we had a  variety of issues but nothing set in concrete and what we knew about her medically wasn't enough for the specialist to diagnose. They have also isolated the gene of Kabuki since then. Bug doesn't fall into that gene pool but, neither does this child-curious. If my understanding of Kabuki is correct it is considered a syndrome that has a spectrum kinda like Autism. 

God's will be done is all I want whether she is diagnosed or not. Of course, as a mom I want answers and to have a name of what she is suffering from. I want to know what her future looks like. Will she get worst? What will she possibly face medically? Whether it be Kabuki syndrome or something else. Maybe with the medical history we now have they will maybe even want to test for something else that they feel would be appropriate. I don't know but in all things I trust that God is in control of my little girls life. 

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