Each Thursday join us for #RareDiseaseTruth
The Jansen's Foundation founder, Neena Nizar is an incredible human and trailblazer! We love their campaign #rarediseasetruth! It is raw, powerful and brave! Daily we put on a smile, push through unimaginable exhaustion and no one really knows our truth - That rare life can be extremely hard, isolating and heartrending. Continuing what Neena started, every Thursday we will share a #rarediseasetruth from our community.
If you have a #RareDiseaseTruth you would like to share, please fill out this form.
"It’s so hard to talk with friends about their kid’s futures. It feels like they will have a second life after their kids leave home but that will likely not be our reality. Our son will probably always need to live with us. It’s hard to accept that our future looks nothing like those of everyone around us."
"Unfortunately, 'inclusion' doesn’t always mean accessible and meaningful participation. Although people will say that thoughtful accommodations have been made to ensure your child's participation, being a parent of a child with a rare disease means you always have to check and double-check that the accommodations provide for true inclusion."
OCNDS is caused by a mutation in the CSNK2A1 gene. CSNK2A1 creates a protein called CK2. CK2 is found in every cell of the body. CSNK2A1 acts as a switch turning on and off other genes. This gene is a big deal! It also controls circadian rhythm. Many of those with OCNDS experience significant sleep issues - trouble falling asleep, staying asleep, and waking for the remainder of the day in the middle of the night. Many OCNDS families are beyond exhausted and run on empty. One OCNDS caregiver said: "I just want to nap. I fantasize about napping. My child with OCNDS has severe sleep disruption. Since she was born, I haven't slept more than 3 consecutive hours in a night. No amount of coffee in the world can cure how exhausted I am."
"Once, after we had typical siblings over for a playdate, my 9 year old son cried and whispered to me he wished he had a sibling he could play with and who could talk and that he hated what OCNDS does to his sister."
"When our daughter was born her neurologist didn't know if she would survive. We were told to buy life insurance now to cover costs. Her doctor said he was out of ideas about what was going on and why. That if we ever figured out what was wrong, we were free to call him back and let him know. He told us good luck..." Rare disease families shouldn't have to rely on luck. They deserve collaborative medical partners on this journey.
No one should be left to find their child's diagnosis on their own. One OCNDS parent, Rhiannon, was told her daughter would be in a paper describing a brand new syndrome with no other information. Her doctor didn't call her to inform her that the paper was published or to review the findings. She was left having to pay $35 to download the only information available about her child's diagnosis. We must do better. We have to do better.
"At a major university hospital, the ER refused to treat my child because her symptoms did not present as a normal child’s would. She is rare, nothing is common about her experience." OCNDS caregiver shared that it was a terrifying experience because it was one of the best institutions in the world and you don't expect to see such bias in a teaching hospital and it makes you realize how hard our children have to fight for basic care.
"Our 9 year old daughter with OCNDS said it makes her sad when the other children don’t want to play with her on the school playground. She also hasn’t been invited to any of her peers’ birthday parties for a few years and our invitations to classmates to visit our house for play dates are sometimes ignored or declined."
"In April, an outbreak of COVID-19 led to a 5-week school closure and switch to at-home/on-line learning. One morning, the significant gap (e.g., socially, academically) between my 13-year old daughter and her “neuro-typical,” same-aged classmates HIT ME HARD when she was with her full class (that is, not working with her EPA or with Learning Centre group). A brief but strong wave of grief came over me for the child she “could have been” ... followed by shame for feeling this way."
An OCNDS caregiver shared: "As my friends are counting the days until retirement and when their kids go off to college, I am planning on my child living with me forever and what will happen to her when I die."
"Because my daughter doesn't "look" disabled, people do not accept she has a rare disease."
"My adult child, who does not have OCNDS, has missed out. She has not had the best of me as a mum, as I was distracted with her sister with OCNDS, who took a lot of time away from her. This has impacted her life and our relationship."
"Said by a woman at church who met my family for the very first time. She should be VERY glad that there were 4 pews between us." OCNDS parent, Terri J.
Rare life is real life. Feeding tubes - a part of rare life most people don't have to think about. Rare Disease Truth Thursday inspired by the Jansen's Foundation.
Thank you A.R., an OCNDS parent, for starting this conversation in our community and sharing your #rarediseasetruth. "It hurts my mama heart that our daughter has never been invited for a playdate or a sleepover. I am always inviting other kids over to our house so my daughter feels special. But I would love for her to be invited over for a playdate or sleepover two reasons. One, most importantly, for my daughter to feel loved and special. Two, just to have a mama break of respite.”