It has been over a month now since Hannah had her skin biopsy done. I send an email last week to our geneticist’s nurse to ask her the status (if it had completed growing out so it could be tested), but I never heard back. I sent her another email again this morning.
I will admit, not having multiple doctor appointments every week has done wonders for my mental state. Seriously. With the exception of the pediatrician, we haven’t seen a specialist since the ENT doctor a few weeks ago and Early Intervention a couple of weeks ago. The next “round” of medical appointments won’t be until after the skin biopsy has been tested for the lysosomal metabolic storage disease workup.
I still look at her, and I can’t believe she has something terminal. Yes, she is developmentally delayed (still hasn’t rolled over yet and is just now grasping at things), she does have the enlarged spleen and liver, and yes, she does have the laryngomalacia. But she is laughing, smiling, eating healthy, gaining weight, and just overall healthy-looking and happy! Call it denial or whatever, but I really have a hard time grasping that their lead diagnosis is something like Niemann Pick type C. Just isn’t registering in my brain anymore.
Regardless, I do find myself a bit lost. I feel like my life is on hold right now until we know which direction we are going. We joined our local temple last week, and under “volunteering”, I didn’t put anything because I have no clue what my life will be like after we get the results. I haven’t volunteered for any of the kids’ school functions because, again, I don’t know what my life will be like. So many things are “on hold” until we know which direction we are going.
Again, I just want answers.
Proverbial “fork in the road”
16 Dec by
You will get through this.
My daughter began undiagnosed. Then it became undiagnosed neuromuscular, then the added the word genetic, then the word disorder, then chroic, then termianal. It was hard to get used to but we did.
Madeleine was with us seven years, this January marks the thirteenth anniversary of her death. Just her very existance changed my life completely and I would not be who I am today had I not gone through what I did with her.
Although undiagnosed, they were confident it was autorecessive so more children were out of the question. My husband and I are about to adopt our third and fourth child out of our county’s foster care program.
Lean on me if you need to, I promise I will do my best to hold you up.