This year I decided that I wanted to participate in the run for Brisan and Parker but for future events of Rare Diseases. I had never done anything like this before and remember thinking when I woke up at 5:30am on that Saturday morning, that I have officially lost my mind! Originally with another friend we were going to run the 10k which is around 6.25 miles. Knowing that I haven’t ran that distance all at once since high school I decided to go with the 5k (3.25 miles).

My training wasn’t spectacular although I had regularly been working out at 24 hr Fitness. My last outside running in distances was in August/September of 2009. The tread mill came in handy but to all amazement I only ran 3 miles twice for my training.

On the day of the event I felt really good and finished strong for not knowing what to expect. My goal was not to finish in 1st place but to just finish. My body felt really good after the race.

Next year our goal is to have the Niemann-Pick Children’s Fund on their site as a non-profit that others can help raise money for. I noticed that they did not have any that were targeting rare diseases. This will be a great way to help spread the message in our community especially but help generate awareness & education.

Niemann-Pick Type C (NPC) is a rare fatal genetic neurological disease that affects the cell’s ability to metabolize cholesterol. The domino affects end up destroying the nervous system along with other vital bodily functions that ultimately claim the life of the patient.

It has been almost 13 years in July 2010 that the NPC1 gene, on Chromosome 18 for Niemann-Pick Type C was shared with the world on its discovery. This was a huge step and monumental discovery with associating cholesterol with a certain gene/chromosome at that time. To arrive at this point, it took decades of work which shed an abundant light into how a cell metabolizes cholesterol. In short, Niemann-Pick Type C causes progressive deterioration of the nervous system by blocking the movement of cholesterol within cells.

From a press release dated July 10, 1997 from Bethesda, MD:

“This discovery is an excellent example of how research on rare brain disorders often pays off in other ways,” says Zach W. Hall, Ph.D., Director of the National Institute of Neurological Disorders and Stroke (NINDS). “By identifying this gene, we not only take a crucial step forward in understanding this devastating disorder, but also gain insights into problems that affect every one of us.”

In 2001, cardiovascular disease was responsible for more than 39 percent of all deaths in the United States (American Heart Association: Heart Disease and Stroke Statistics 2004). Atherosclerosis is a disease where plaque builds up in your arteries. We all know those aren’t important to our lively hood at all. OK, just joking but plaque is made up of fat, calcium, cholesterol, and other substances found in our blood that over time builds up but hardens in the passage ways of our arteries. Imagine if you’re driving through a two way tunnel but one side is now closed off?  It would be kind of hard to get through to the other side in a timely and relaxing manor with additional objects in your way? Just like that situation, this affects how we get our blood to important areas in our bodies. With millions of people dying each year, this is a huge number of people. What if Niemann-Pick Type C could provide some insight?

Other diseases such as Adult onset Alzheimer’s, Stroke, Cystic Fibrosis, Duchenne Muscular Dystrophy, and even HIV-Aids will benefit from the research into Niemann-Pick Type C. Did you know that children can experience dementia to? Crazy to imagine because most of us think that only our elderly family members get that! With the combination of deaths due to these diseases, could you imagine if we had a more collaborative research environment? Unfortunately big companies aren’t going to sacrifice revenue opportunities to help a blip on the radar screen but they will invest if they see it helping thousands of people; this means a return on their investment. This reality is sad but true.

Rare diseases OUR important to you, me, and everyone we know. Each of us has a Chromosome 18 that is vital to us being a living human being.  I encourage you to help out in some way. That could be donating to several charities that fund research for NPC like the National Niemann Pick Disease Foundation, Ara Parseghian Medical Research Foundation, Hide and Seek Foundation or the Niemann-Pick Children’s Fund. That could be becoming and advocate in lobbying our government for better health care. It could be you just passing the word and spreading awareness.

We all are in this together and have been affected in some way by one of the diseases mentioned in this post. One person can make a difference in the world and that person could be you.

Additional Resources:

• http://www.lef.org/protocols/heart_circulatory/coronary_artery_disease_atherosclerosis_01.htm
• http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_fatal_childhood_niemannpicktypec_071097.htm
• http://www.strokecenter.org/patients/stats.htm
• http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_fatal_childhood_niemannpicktypec_071097.htm
• http://www.cdc.gov/nchs/FASTATS/deaths.htm

*All pictures belong to their respective parties.

Social Security adds 38 new medical conditions that qualify for disability help.  The new conditions range from early-onset Alzheimer’s disease to rare diseases that primarily affect children which includes Niemann-Pick Type C!

Personally this seems like a relief for so many families. One of the goals of the Niemann-Pick Children’s Fund is how can we directly impact families especially with this kind of disease. That of course is a huge task that seems daunting at times. There are so many other rare diseases out there that are equally devastating besides NPC. It is heart wrenching to know that there are so few options.

Approximately 15 million Americans have rare diseases for which there still is no approved treatment and no research in progress. What that tells us is that leaves a lot of families carrying a burden of hopelessness!

Here is a snippet from the article: read more here

This is the first expansion since the original list of 50 conditions – 25 rare diseases and 25 cancers – was announced in October 2008, according to the announcement yesterday by Michael J. Astrue, Commissioner of Social Security.

The complete list of the newly recognized medical conditions that clearly qualify patients for Social Security and Supplemental Security Income disability benefits – Compassionate Allowance conditions – is below.

“The addition of these new conditions expands the scope of Compassionate Allowances to a broader subgroup of conditions like early-onset Alzheimer’s disease,” Commissioner Astrue said.

“The expansion we are announcing today means tens of thousands of Americans with devastating disabilities will now get approved for benefits in a matter of days rather than months and years.”

The quick identification of these conditions allows the agency to electronically target and make speedy decisions for the most obviously disabled individuals.

In developing the expanded list of conditions, Social Security held public hearings and worked closely with the National Institutes of Health, the Alzheimer’s Association, the National Organization for Rare Disorders, and other groups.

“The diagnosis of Alzheimer’s indicates significant cognitive impairment that interferes with daily living activities, including the ability to work,” said Harry Johns, President and CEO of the Alzheimer’s Association.

New Compassionate Allowance Conditions

1.                  Alstrom Syndrome

2.                  Amegakaryocytic Thrombocytopenia

3.                  Ataxia Spinocerebellar

4.                  Ataxia Telangiectasia

5.                  Batten Disease

6.                  Bilateral Retinoblastoma

7.                  Cri du Chat Syndrome

8.                  Degos Disease

9.                  Early-Onset Alzheimer’s Disease

10.              Edwards Syndrome

11.              Fibrodysplasia Ossificans Progressiva

12.              Fukuyama Congenital Muscular Dystrophy

13.              Glutaric Acidemia Type II

14.              Hemophagocytic Lymphohistiocytosis (HLH), Familial Type

15.              Hurler Syndrome, Type IH

16.              Hunter Syndrome, Type II

17.              Idiopathic Pulmonary Fibrosis

18.              Junctional Epidermolysis Bullosa, Lethal Type

19.              Late Infantile Neuronal Ceroid Lipofuscinoses

20.              Leigh’s Disease

21.              Maple Syrup Urine Disease

22.              Merosin Deficient Congenital Muscular Dystrophy

23.              Mixed Dementia

24.              Mucosal Malignant Melanoma

25.              Neonatal Adrenoleukodystrophy

26.              Neuronal Ceroid Lipofuscinoses, Infantile Type

27.              Niemann-Pick Type C

28.              Patau Syndrome

29.              Primary Progressive Aphasia

30.              Progressive Multifocal Leukoencephalopathy

31.              Sanfilippo Syndrome

32.              Subacute Sclerosis Panencephalitis

33.              Tay Sachs Disease

34.              Thanatophoric Dysplasia, Type 1

35.              Ullrich Congenital Muscular Dystrophy

36.              Walker Warburg Syndrome

37.              Wolman Disease

38.              Zellweger Syndrome

For more information about the agency’s Compassionate Allowances initiative, go to www.socialsecurity.gov/compassionateallowances.