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.

Thursday, February 20, 2014

Rare Disease Month - Day 19

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 Kaiden - a rare NPC kid among rare NPC diagnoses.  Kaiden, now 8, lives in Canada and has all the NPC symptoms.  However, they can only find one NPC2 mutation.  Less than 5% of the NPC diagnoses are NPC2.  As a result, his doctors have taken away his provisional NPC diagnosis.

Kaiden was granted a Make A Wish trip a few years ago and Sharla, his mom, prepared a thank you speech.  Here is some of her speech.

Kaiden, our youngest, is 5 and he has a provisional diagnosis of Niemann Pick Type C - 2 with a secondary mitochondrial structural abnormality. This is an inherited disease which causes metabolic problems due to abnormalities within the structure of the DNA: Kaiden is one of only 24 known cases in the world with this disease. Kaiden’s life expectancy is 6 years old however he is attending kindergarten at the present time and continues to amaze us with his progress, in spite of intermittent episodes of illness. We expect him to surpass the usual predictions for life expectancy but we live on borrowed time.

People may think it is sad to live on borrowed time, however what people tend to forget is that we are afforded the luxury of knowing our time is short. Niemann Pick C has been called Childhood Alzheimer’s. We know our Kaiden only has a short childhood so our family must build memories that will last our lifetime and continue to try to keep our little buddy safe, happy and comfortable for as long as we can and we try to make the most out of every moment.


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