February 2, 2011

Knots in my Stomach....

Yes, that's truly how I am feeling right now! It reminds me of the IF days during the treatment. Everything was unknown and uncertain... I find myself in the same position again... asking what IF and why us! Only, today I am a mother to two beautiful children, who are my heartbeat! I can't see my babies hurt and I want nothing but the best for them. But this is life!

RM has a birth mark on his thigh. It's a discoloration on his right thigh. It didn't seem like anything abnormal and the docs just asked us to watch it and report if we found something different. He had a similar mark on his right arm as well (elbow actually)... and then in the last couple of months I noticed that there are two more spots - one on his back (left side) and one on his right arm (close to the shoulder). So, I thought that I would point it out to the Ped (during the 9 month visit). And the doc said that it could be Neurofibromatosis. Of course I had no freakin' idea of what it meant when the Ped mentioned it to me. Being a Dr. Google's sincere patient, I googled it immediately and emailed it to DH and myself so that I could look in to it later on. From what the doc mentioned, it is a neurological condition and if the spots increased we should go see a neurologist or a genetic counselor. I could sense that this is not something minor, but wasn't quite sure what to make of it.

Things started dawning upon me while I read the first article while filling gas and then while speaking with DH. It is a genetic condition, either inherited or caused by mutation in the sperm or egg. The birth mark or the spots that I mentioned above could "possibly" be café au lait spots... "assuming" that the condition is diagnosed as neurofibromatosis. I am not going to try to summarize what this condition is all about... it is well summarized on this MayoClinic website.

We spoke to the chief Ped from the group that we visit... and he was willing to refer us to a specialist (neurogeneticist) via an internal referral. We should be hearing from their office in the next two weeks. DH and I have been concerned about the impact such a neurological condition could have on our child. We don't know for sure if it is what we are thinking, we hope it's not and it is just some discoloration/pigmentation. Speaking with the Ped was reassuring. The condition is generally manageable and something that should not make us (hopefully) panic at this moment. But, I just don't want this to exist. I can't think of my child hurting. I just want my babies to be happy, healthy and safe!!

7 comments:

  1. So scary! I hope that everything turns out well.

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  2. Oh dear!!! I'll say a prayer for you and your child, it will be fine!! Love, Fran

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  3. Oh my goodness, I can only imagine how you feel right now. I completely understand wanting your baby to be nothing short of healthy and how devastating it would be to watch them suffer in any shape or form. Praying for a healthy report.

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  4. Such a scary diagnosis to face. I hope everything will be okay. Thinking of you as you're going through this incredibly difficult period of uncertainty.

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  5. Oh my. How incredibly scary. I'll be thinking of you and your family. Please update us when you know more.

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  6. Hoping and praying that RM's spots are nothing of concern. Nothing is worse than the worry that something could be wrong with your child. Thinking of you! (And by the way, I'm so glad you're all safe and sound after your extended trip abroad!)

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