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.
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.
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.