It’s World RARE Disease Day . . .

27 Feb

aegerion-pharmaceuticals-obserWhy is that important to anyone outside the special needs community? It’s important because one day rare disease may impact you or someone you love.

No one thinks it will happen to them . . .

but it happens to someone . . .

to multiple someones, every single day in this world.

And fear and frustration follow in the wake of diagnosis every time.

Every time.

Sometimes determination and tenacity are birthed . . .

Sometimes crippling despair and anxiety.

Welcome to the world of rare disease!

193057pnguTwo of my daughters were born with a rare genetic disease known as ARSACS. For 15 years their disease went undiagnosed. In fact, only two labs in the US were testing for ARSACS at the time of Gracen and Katie’s diagnosis. World Rare Disease Day seeks to raise awareness and promote research for diseases that are far less likely to receive research funding than common diseases do. That’s why I support Rare Disease Day.

rare2-300x300I’ve learned much about the medical community in my sojourn through rare disease. I’ve met warriors and wimps, fighters and folders, the courageous and the weak-kneed and have discovered that some emotionally separate themselves, and some, the bravest of the brave, count the cost and invest their hearts and souls with little regard for their own mental health. Many ride the tide between the positive and negative—between hope and hurt—just as parents, friends, and family do. They paint on brave faces then hide in the supply closet as tears flow unchecked down their faces. They smile encouragement and swallow back the fear of failure to cure, treat, and simply to help. And they carry the weight of the dashed hopes and expectations that loved one’s pile on their shoulders as they reach, ache, and long for a cure—a treatment—a miracle. They see victory . . . they experience defeat . . . all with the frailest of hope that one day, one day, disease will be vanquished and hope will reign supreme. And the wimps and folders, the weak-kneed and the emotionally distant are far too frequently former warriors and fighters, the courageously tenacious and the bravest of the brave who have stood in the gap for so many and for so long that they have paid a high personal price in the form of compromised mental and emotional health.

Did you know health care professionals, as well as family caregivers, are at risk of PTSD?  It’s due to the repetitive trauma of treating and viewing horrors we’d all rather be ignorant of.

logo_arsacsToday, World Rare Disease Day 2017, I’d like to take a minute to appreciate and thank the dedicated medical researchers and practitioners that invest so much time and effort searching for cures, prescribing medications and treatments, holding the hands and hearts of those desperate for answers and hope.

Thank you to the nurses, doctors, technicians, researchers for the kindness you offer. Thank you for treating the families with respect and dignity in the face of brokenness. Thank you for answering questions, returning phone calls and emails, and telling loved ones hard truths. Thank you for gaining knowledge and for just showing up, encouraging, and extending support along this difficult path.

And thank you to the clinic staff that handle everything from making appointments, ensuring calls get returned, and even for haggling with insurance companies and making sense of the numerous bills that lick at the heels of world-weary parents and spouses.

Thank you for caring and for doing your jobs to the best of your abilities.

I see you.

I appreciate you.

1 Comment

Posted by on February 27, 2017 in Chronic Illness, Muscular Dystrophy


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One response to “It’s World RARE Disease Day . . .

  1. Monica del C Herrera Hdez

    February 28, 2017 at 3:42 am

    Thank You Janet:

    From the deepest of my heart and my parent’s, siblings, and now us my children my husband and I.

    As someone with polio sequels since 2 years old throughout a mom of a wes syndrome child a rare epilepsy on babies autism spectrum and AHDD son i am grateful for people like you who raise their voices and shout out about us as a parents or people who learning and live different than the rest of the world. I admire you an salute you hug you the other day was encourage for me, i feeling your pain as mine and think what if i was the one lost her life in the car accident and that’s why i love Jesus and praise him everyday and sunday mornings at the choir or in the other side…because your pain teach me i need to be grateful to stay here today…and back your post as a Mom of my obnoxious miracle baby boy my little Carlos whom born after fetal distress or baby blue and was diagnosed with this rare epilepsy form and thanks to was diagnosed at 5 months and early treatment he was cure at 3 years old but with learning disabilities and autism spectrum the school psychology said to me because i was a preschool teacher and always interacting with him during his treatment and after with his siblings he isn’t totally autistic a mothers love i say. Same as my parents with me no matter i was and still introverted till my college years because my orthopedic shoes they show me to reach the sky always i am the only whom goes to college, my sisters married younger my brother get caught by drugs but now he is a totally recovered person through God he said and didn’t like marijuana he say is the door of the horror world of drug addiction. But that’s other story. Janet thanks for share your thoughts is a reliever for me the fighters get tired too. I read this on my hospital bed after my umbilical hernia surgery and you know as brother wes say sunday morning i can do it because He gives me strength Phil 4:13. Every time i stand and hurt remember the movie the Passion of Christ and say this is nothing compares what Jesus suffer to bring salvation to many. Thanks Janet for you blog is a light in todays world God bless you.

    In Him i trust Monica



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