Rare Disease Day

Tomorrow is National Rare Disease day.

While I have participated in supporting Rare Disease Days of the past, this is the first year I am directly impacted by it.

I always knew Lukah was a rare gem, but I sure as heck never thought she had a rare disease! That changed forever on October 24, 2013 when she was diagnosed with Dysautonomia/Pots
(another date I will never forget . . . see earlier post entitled Dates.)

So what’s the big deal about being rare? Everyone is unique in some way, right?

Well I’m here to tell you that “ain’t nobody” want to be the “rare disease” kind of unique. Having a rare disease is not like having a split in your teeth like Madonna, or being skilled in a special talent like glass blowing. Instead, the thing that makes someone “rare” is usually the fact that they are fighting the hardest battle of their lives . . . and very often times battling FOR their lives.

You see, many times the symptoms of rare diseases are uncommon to most doctors, so rare diseases as a whole represent a large medical challenge. We have found this to be very true with Lukah. It took us 7 months to even get a diagnosis for her disorder, despite having seen more doctors than I can remember to count.

There also is not a lot of funding for treatments for rare diseases. Consider this: What would give you more bang for your buck? Getting three “new without tag” designer purses at a trendy resale store or paying store price for one designer purse from Saks 5th Avenue? The same is true for rare disease research and treatment development. Looking at it from a strictly monetary perspective only, does it make more sense to sink a lot of money into curing a single rare disease that will cure a small amount of people (like Dysautonomia), or to fund research for something that will find a cure for the masses . . . like cancer. It’s sad but true.

“More people are affected with a rare disease than with cancer and AIDS combined, yet we get no funding,” said Patty Weltin in an article entitled “Health Check: Rare Disease Day”
on the website www.turnto10.com “None.”

Did you know . . .
• There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day. The type of rare disease my daughter has is called POTS and it was just classified 20 years ago.

• 30 million people in the US are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population. I personally know two other people with rare diseases – one young angel child with Batten disease in my little town and then at work I have a friend who is battling Wergner’s disease. Do you know anyone battling a rare disease? I’ll bet you do — you just might not know they have one!

• In the United States, a condition is considered “rare” if it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if fewer than 50,000 citizens per disease.

• 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear. This is the case with Lukah. Her neurologist believes her condition to be genetic, even though she did not show her first symptom until the age of 8. Then, after that, it was dormant again for a few more years until junior high when she would pass out about once a year. Then, came March 14, 2013 and she hasn’t had a break since. He does not believe she will “grow out of it” since he thinks it is genetic.

What can you do to help?
While people with rare diseases are unique, they do not bite (usually that is lol!). If you know someone who has a rare disease, don’t shy away from them because of their disease – especially if the disease made its grand entrance after you already knew them. Better yet, get to know them better! They probably need someone to talk to. If you’re comfortable, ask them questions about their disease. Raising awareness for rare diseases is important and by asking questions you are becoming more aware.

Walk a mile in their shoes. Imagine what it is like to never know when another seizure is going to strike, or not being able to breathe without a wheezing exhale with each breath or having your hearing stolen from the awful disease. Don’t be annoyed at them for “disrupting class” with a seizure or talking too loud at work because they can’t hear very well anymore. Be empathetic.

While this is not the case for Lukah, often times, people with rare diseases look “different. Don’t stare at them, but also, don’t shy away from looking at them in a friendly way, either. Often times, they feel isolated so a friendly smile will do wonders for their spirit.

Don’t judge. While a constant battle, those with rare diseases often times have good days and bad days. If you see them out and about, don’t automatically think snarky “Well see she’s not so sick after all” thoughts. Instead, be happy for them that it is a good day and they were able to leave their bed that day, because often times, those good days are few and far between.

Wear jeans tomorrow. The Wear That You Care™ campaign is simple — all across the world people can participate in supporting the Global Genes movement and rare and genetic disease awareness by wearing a Genes Ribbon™ and their favorite pair of jeans in support of those suffering from rare diseases. Why? The more awareness we build the more attention rare diseases will receive which leads to the possibility of additional funding.

Consider making a donation to the rare disease organization of your choice. If you’re interested in donating to a good one that supports the disease my daughter suffers from, Dysautonomia, please consider donating to Dysautonomia International through www.dysautonomiainternational.org.

Thanks for reading and God bless!