I haven’t written a medical update about Samuel in some time. I have learned that appointments and tests do not have an instant gratification disclosure. These things take time.
I have, since my early 20’s, when I became more self-aware of my personal flaws and deficiencies, prayed for patience. I feel as though I am somewhat predispositioned to having the “I want the answer now; I need this done now” characteristic, as I am the baby of my parents’ 3 children. We babies like to have it when we want it- attention, love, items, and ANSWERS! We don’t like to wait. This is probably somewhat of a generalization, but my fellow babies understand.
Having patience is something I have struggled with all of my life. I try to keep it in check by thinking positively and rationally, praying, and just really working to see that God’s timing is best.
In comparison to many families struggling with an autism diagnosis, we have had to wait such a short amount of time for concrete diagnoses for our Sam. We live in such a medically advanced and accesible place for excellent care. I give thanks above for that. As much as I am a Louisiana girl living in a Katy world, I am more thankful than I could ever be for being exactly where I am.
Since September, Samuel has been diagnosed with global developmental delay, hypotonia, and autism. He has had a clear MRI scan, and I have touched on each of these, some more than others, in previous blogs. Our next appointment was to see Dr. Rodriguez downtown. He is a fabulous geneticist, and we were to wait for the hospital to call for Samuel’s 24 hour EEG to be scheduled. This would determine if he is having any type of seizure activity over an extensive period of time. His EEG is this Sunday, the 11th, and I am praying for a calm spirit in Sam. It will be a long day and night.
Dr. Rodriguez called a couple of days ago and told us the results of Samuel’s genetic testing. We had waited 8 painstaking weeks, and the moment he called, I was a wreck. Samuel has a defect in his 15th chromosome called Micro duplication chromosome 15q.
His 15th chromosome duplicated itself in a mirror image, which caused the problems he has. I cannot begin to express the relief of knowing what happened to my baby. I cannot describe the sadness of knowing what this can cause in his life. But, so many do not have answers. We HAVE answers. We HAVE a team of doctors who work for the good of our son. We are fortunate and grateful. We are to see the geneticist to discuss the specifics of his 15q, and Maggie will be compared to Samuel. There are many types of duplications within the 15q category, so hopefully we’ll find out even more. With more answers, come more questions. Isn’t life just that way sometimes?
I will share a link about Sam’s chromosomal syndrome. It is rare, and so much is still unknown. For now, we know that his risk of seizure is very great and that it is most certainly the root of his issues, including the autism. So, thank the Lord that He knows patience is not my strong suit, and the EEG is this weekend.
There has been much to take in during the past 4 months. I am ever-learning, ever-worrying, and ever-leaning on my God. The leaning keeps me on my feet. My patience is growing, and I am so glad He never lets me fall.
Generalization about micro duplication 15g:
thisblandlife 