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What I Hope You Don’t Know about Leap Day

I hope you don't know about the global observance on Leap Day because if you do, your world has been shattered. Help raise awareness for Rare Disease Day.(Last Updated On: April 19, 2016)

Many people don’t know that the world observes Rare Disease Day on Leap Days and the 28th of February all other years.

If you already knew this, chances are your life has been touched by a jaw dropping, world shattering diagnosis.

It is the stuff of nightmares.

But we can make a difference for those with a rare disease diagnosis.

February 29, 2016 marks the ninth international Rare Disease Day, hundreds of organizations from all over the world will hold awareness-raising activities based on the slogan Join us in making the voice of rare diseases heard. Alone we are rare. Together we are strong.

These are often called orphan diseases because they affect so few from a global standpoint; therefore, medical research companies and the FDA often consider seeking a cure for them a waste of limited resources.

Small, scattered efforts are being done to understand and prevent them. Yet, drug trials and treatment protocols are almost unheard of.

But, when searching the face of your precious child, the costs can’t be measured by charts and graphs.

I hope you have no reason to know about the global observance on Leap Day because if you do, your world has been shattered. If not, please read and help no other parent have to understand Rare Disease Day.

Many victims are children facing unrelenting diseases that have no cure, like San Filippo Syndrome, one of the most insidious, a metabolic disorder that prevents the break down of certain sugars in the brain, which build up gradually doing irreparable damage leading to a painful death.

I can't imagine a rare disease diagnosis for my child. Help today, so no one else can either. #RareDiseaseDay Click To Tweet

It will eventually steal talking, walking, balance, swallowing. Think ALS, Alzheimer’s, Parkinson’s all rolled into one and imaging hanging that noose around your child’s neck.

Most children experience seizures, joint stiffness, upper respiratory infections, hearing loss, dementia, hyperactivity, aggressive behavior, severe intellectual impairment, partial paralysis, growth retardation and vision impairment before it finally claims their lives.

There is extremely promising research on the horizon. Families and Foundations fight and fund raise to help bring these to clinical trials, which is often the only chance for these children at this time. While things move closer, we still have work to do to end this rare disease.

TIME grows more and more crucial each day, as affected children are showing more and more signs of the disease. Several precious children were lost in recent months, and it is truly a race.

Together we can finish this race to end this one #raredisease. #50StateChallenge #CureSanfilippo Click To Tweet

Some days, I look at my nearly six-year-old daughter in awe. She reads highway signs as we speed past, explaining how Pachycephalosaurs use their heads to ram each other, while bashing her forehead with mine. She outgrew two sizes last year.

She’s not my baby anymore. Oh, don’t turn six, I say, and bite my tongue. How dare I?

Some parents would give anything to watch their child’s life unfolding in our messy, beautiful way.

And I’m selfishly in denial about her growing up.

Will you help me take my eyes off my own child for a moment? Join me in taking the 50 State Challenge, and share their website or this blog using #50StateChallenge.

The world will know we are Christians by our love.

Not our bumper stickers or Facebook statuses, but by our love.

Rare Diseases have a special place in my heart because my stepson has a condition called 1p36 Deletion Syndrome. He didn’t know all the limits the experts placed on children with this syndrome, so he didn’t let them hold him back. And his mother has been his constant champion.

He will always need some support and care, but is very independent in many ways. For that, we are very grateful.

But not every child has the chance for a long and full life he does.

Most diagnosed with a rare disease are also given a death sentence.

We can end THIS one rare disease in our lifetime, but only through YOUR HELP and support, can we end it in theirs.

Join us! Take the 50 State Challenge today to end San Filippo and raise awareness for Rare Disease Day!

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26 thoughts on “What I Hope You Don’t Know about Leap Day

  1. Jennifer,
    I had no idea that Rare Disease Day was celebrated on leap year day either. Thank you for bringing attention to this. Very well said, and what a worthy cause.

    1. Thank you. I don’t know why God has given me such a heart for this cause, but it is so important to me that my words bring awareness and possibly help raise funds.

  2. This is great! There are so many rare diseases out there with hardly any discussions being had on them. I actually went to school to help research and treat rare diseases in children… God then had other plans for my life – but still my heart longs for cures and answers.

    1. It is so hard not to want to fix them all, isn’t it?!? The FDA did announce a drug trial yesterday ! So excited for this next step.

  3. I can only imagine the heartbreak some parents have to endure watching their children suffer. Thank you for bringing this important issue to the light for so many of us.

    1. It is almost too much to imagine. It is the least we can do to share and support their message.

  4. It seems very political that rare diseases are not looked into as much. My husband has a rare condition himself, which some people still even doubt though it is very obvious to me because I know him so well. Before Celiac was further studied, it was just lumped into IBS or even made up. I am so glad that people are challenging the system by bringing awareness to the many rare diseases there are. Every life matters!

    1. There is so much we don’t understand about our bodies.

  5. Wow, I am shocked! Thank you for having the heart of God to make us aware of this. Blessings to you!

    1. Thank you for taking time to read!

  6. You put so many things in perspective as I just said, “I can’t believe my baby will be 8” as I am planning my middle babies 8th Birthday party. I am constantly taking advantage of my blessed life. Thank you for being this awareness and bringing attention to this special day.

    1. Makes us cherish our blessings even more that is for sure!

  7. you don’t know how many people (including me) may be waking up to a lot of these going on that we didn’t even know of

    1. Hopeful that we can begin to bring an end to some of these!

  8. Thank you for spreading the word about this! I have a close friend who knows someone who has a child with San Filippo Syndrome, and they are all about spreading awareness!

    1. Very blessed to do my part.

  9. Wow I never heard of this disease or this cause – such much needed information – thank you!

    1. But now you can help so no one else hears a doctor say these words about their child. Thank you for taking the time to read about it.

  10. Thank you for sharing about this and bringing awareness so people like me, who hadn’t heard of this, will learn more. Thanks

    1. It is heart-breaking. I’ve been writing and sharing this story for about 1 1/2 years. Today the FDA announced its first trial for this disease!! But how many children at what stage and will it work are all questions we’re praying over.

  11. Like many others, I had never heard of Rare Disease Day or any of the rare diseases you listed, like San Filippo Syndrome. Thank you for spreading awareness about these diseases. I tweeted both your links too. Praying for more research and a cure for those precious ones affected.

    1. Thank you Brandi! The FDA released a press release today that they are starting the first trials to combat Sanfilippo syndrome! These kids have a fighting chance!! Praising God for answered prayers.

  12. Wow,I also never heard of it. They’re so many different sicknesses one can get.

    1. Most people never do unless someone they love is affected. Thanks for visiting. Check out how your state is doing in the 50 State Challenge.

  13. I have never heard of this disease. I definitely help spread the word.

    1. Thanks, I am friends with the parents of one affected child and it is gut wrenching to imagine their struggle.

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