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I spent 6 years searching for a diagnosis

For my 6 year old. As of today, I officially have one. It was given first back when she was a tiny baby in the NICU but I went into denial.

She went through hell for over a year. She was in NICU for 8 months, had 4 surgeries (2 heart caths to close 2 an ASD and PDA, feeding tube placement and laser eye for ROP)

She came home on oxygen, heart monitor and with a feeding tube. She was born with 5 holes in her heart, unable to breathe without help, under 2lbs and 13 inches long.

She didn’t walk until shortly after her third birthday, didn’t talk for years and now only says a few words at once (has a speech impediment but is able to copy what we say, can read, and understands everything we say)

She still can’t jump off the ground, can’t walk unassisted down steps and is finally slightly able to step off the curb. She still can’t write but is starting to be able to give it a great effort and is in therapies multiple times a week both at school and outside of school.

She looks normal, when you hear her talk, she sounds special.

She’s sweet, kind, loving but has tantrums that can rival anyone else. She’s tiny, we have trouble getting her eating enough to gain.

We finally have a diagnosis. We finally know what’s wrong.

We don’t know how severe the outcome will be, but we do have a name. It’s a name I’ve been studying trying frantically to convince myself is not right. It is. Blood tests have proven it. I am, in a way, in a shock but really- I knew it and we were getting all the symptoms treated (it’s not a treatable condition) but I wish it was something she would just outgrow.

 

The name is 1P36 Deletion Syndrome. She has a lesser severe form. She has no seizures, no issues with her brain, her lifespan is normal, she has none of the facial features, but she has it. She’ll likely always be tiny, skinny and we have to have her heart monitored despite all holes closing up but I wish I never had a reason to have heard of this condition. I am still unsure how to feel.

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