A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Sunday, February 23, 2014

Rare Disease Month - Day 23

It's February.  That means it is time to focus on Rare Diseases.  You can read more about what I wrote about the past 2 years by clicking on the links to the right.

This year, I am focusing on different people with Niemann-Pick Disease, one of the 7000+ rare diseases, and the one that took the life of my only son.

Today is for Kamryn in Alabama.  Kamryn was diagnosed at 4 months, and she is now 2 1/2 years old.  Here is some information from her mom Kayla:

When Kamryn was first born, she was very sick. Deep down, we knew something wasn't right. We began noticing that her belly seemed quite large. After discussing this with two previous doctors, a third doctor (at her 1 month check up) sent us to Children's in Birmingham. I truly believe that us finding out so early was a God thing. After multiple tests, they narrowed it down to Gaucher's. When that came back negative, they tested for NPD. We are so thankful that our doctors were led in the right direction!

At 6 months, we visited the NIH for the first time. We have been back 2 times since then. Currently, Kamryn is not showing any neurological symptoms. Her spleen is only slightly enlarged. She is doing great.
You can see more of Kamryn's story in her YouTube video below or read her story from the Children's Inn at the NIH (she is at the bottom of the page).



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