Rare Disease Month - Day 28

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 Pieter, a teenager in the Netherlands.

Rare Disease Day - February 28

There are many different days in the year for different causes. February 28 is Rare Disease Day.



World Rare Disease Day is an annual observance held on the last day of February (February 28th or February 29th in a Leap Year) to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare and genetic diseases and their families. (source)

Here are 5 facts about rare diseases:

1. According to the U.S. Food and Drug Administration, a rare disease is one that affects fewer than 200,000 Americans at any given time.

2. According to the National Institutes of Health, there are between 6,000 and 7,000 rare diseases affecting from 25 to 30 million Americans.

3. 80% of rare diseases have identified genetic origins  and 50% of rare diseases touch children. (source)

4. Patients with rare diseases are frequently misdiagnosed or are undiagnosed. (source)

5. Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease (source)

If  you see people walking around sporting a denim ribbon, ask them which rare disease they are supporting.

Please take a minute to click on the source links are read a bit more about rare diseases and how you can help spread awareness.   To learn more about Niemann Pick Disease, the disease I support, go to the National Niemann Pick Disease Foundation, the Mayo Clinic, and the Parseghian Foundation.

Rare Disease Month - Day 27

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 3 siblings in Switzerland: Mathias, Alix, and Zita.  I had the pleasure of meeting some of the family in Baltimore.  You can read an undated story about them here.

Rare Disease Month - Day 26

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 teenager Lili in Germany.  I had the wonderful experience of meeting her mother Sabine in Baltimore in August 2013.

Rare Disease Month - Day 25

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 Estefania, from Argentina who is in her mid 20's.  I was able to meet both of her parents at the INPDA/NNPDF Conference in Baltimore in August 2013.

Rare Disease Month - Day 24

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 John in Italy.  John is now 10 and they are trying to get approval for an experimental treatment.  You can read their story here (in Italian). 

5 for Five - Feb 24

So what is 5 For Five? In the short form, it is 5 goals you want to achieve this week. Next week, I will report on my success (or failure). Jenn does a better job of explaining it here.

Here were the goals from last week:
1. Finish the rare disease posts for this month.  I only have a few more left and since the end of Feb is this week I know I will get them done.
2. Buy stamps. And yes, I missed getting them before the price went up a few weeks ago.  I really need to do this this week.  Thanks to my mom for bringing some over to me.
3. Clean out Shelby's outgrown clothes.  Nope.
4. Do an online training course. Nope. And it is due on Feb 24.
5. Read 2 newspapers a day.  I don't think I did 2 a day, but I did read a bunch.

Okay, so that was not a great week. Can I do better this coming week?

So what are my goals for this week???  I have a day off this week, so hopefully I can do a bunch of these.
1. Clean out Shelby's outgrown clothes.
2. Mail a bunch of things that I need to get out.
3. Read 2 newspapers a day.
4. Do some Elks things.
5. Do some organizing.

Ok, who is with me?  Let's keep each other on track to a better year!