Today is one of my favorite days because it allows me to talk about my children and humanize their differences and disabilities to the general public.
Rare Disease Day is an international event on the last day of February every year that spreads awareness about rare conditions, like my children’s conditions, and the need for research.
A day dedicated to rare diseases creates space to ask questions that one might typically be uncomfortable asking; it enables communication, clears up misunderstandings, and fosters sympathy and kindness.
COOL FACT: The National Organization for Rare Disorders (NORD) maintains an alphabetical database of rare diseases that can be found here.
If you were to look up one of my daughter’s conditions, CHROMOSOME 13, PARTIAL MONOSOMY 13q, on this database, it would give you a thorough overview of this particular disorder and associated signs & symptoms, among other helpful factors.
However, it wouldn’t share how she is the joy of my life or my biggest helper. Nor would it tell you how my daughter’s smile can light up a room or describe how big her heart is for others.
Instead, it would point out her abnormalities and disclose that, as a result of this condition, my daughter also has an INTELLECTUAL DISABILITY (ID), formally known as MENTAL RETARDATION.
When the school psychologist first told me that my daughter had ID, I opted to get a 2nd opinion from the Children’s Behavioral Health Clinic at Tripler Army Medical Center (TAMC) in Honolulu, Hawaii, because I was sure that one of the behaviors associated with my daughter’s primary condition of AUTISM SPECTRUM DISORDER like her constantly replying, “I don’t know” to any question posed to her was what caused the skewed test results.
Unfortunately, four tests later, the Army Psychiatrist’s findings supported the school psychologist’s, much to my dismay. However, everything started to make sense when the Army Psychiatrist explained that ID was associated with her Chromosomal Deletion.
I didn’t know that was a possibility because when we got my daughter’s genetic test results back in 2009 (NOTE: After her brother’s genetic and terminal diagnosis of SPINAL MUSCULAR ATROPHY (SMA) TYPE I, we had our daughter tested too), the Geneticist said that there was nothing to worry about regarding the Chromosomal Deletion that was detected, so I believed him and didn’t look into it further.
I had no idea that my daughter had a rare condition and that there was a database I could access to conduct more research on it; if I had been adequately informed before 2021, you can bet your bottom dollar that I would have been scouring the internet to locate it!
Sure, I might have been intimidated by the information I discovered. Still, at least I would have known that my daughter’s condition wasn’t “nothing to worry about.”
I am sharing this resource today to bring awareness to other families who might want to use the database to do some research, too, so they can identify the areas of need and determine the right supports and services to pursue to help their kids.
Speaking of awareness, Rare Disease Day presents people with the unique opportunity to engage with the community and initiate conversations that will hopefully positively impact the hearts and minds of those who hear our words. But the great thing is that these discussions are not limited to Rare Disease Day.
For instance, in the past, I participated in parent panels twice a year, one at Leeward Community College and one at Kapiolani Community College, to talk with new nursing students about caring for medically complex children.
Likewise, on Oahu, the public elementary schools used to allow parents (Pre-COVID) to come onto campus to participate in Read Across America Day, so I volunteered to read to the students in my daughter’s class every March.
My favorite books to read discussed disability or other medical or developmental conditions and were always well-received by the students. Their innocent questions and observations made me hopeful for my kids’ future.
Anyway, here are some suggested books to read if this option interests you:
- Leo And the Octopus, By Isabelle Marinov (Autism)
- I Talk Like a River, By Jordan Scott (Stuttering)
- What Happened to You? By James Catchpole (Missing limb)
- Boy, By Phil Cummings (Deafness)
- The Perfect Shelter, By Clare Helen Welsh (Cancer)
- Awesomely Emma, By Amy Webb (Wheelchair User)
- Why Is Dad (or Mom) so Mad? By Seth Kastle (PTSD)
- Gift from God, By Lori Butierries (Diagnosis Day)
- A Sky-Blue Bench, By Bahram Rahman (Amputee)
- Louie’s Together Playground, By Dr. Nicole Julia (Dwarfism)
Lastly, I highly recommend writing and submitting an article for publication in an online journal if you feel there isn’t enough accessible information or representation about you or your child’s rare condition or disability.
People only know what they know. They cannot grow as individuals or gain new perspectives if they are never introduced to topics that make them think.
Share your stories.
The only way to change the narrative that disability is scary or ugly is to show your friends, family, or strangers how it can be beautiful despite the challenges.
Silence breeds ignorance, and ignorance hurts others, so let us combat that by doing our part as fellow human beings to support the inclusion and acceptance of people with disabilities or rare conditions across every spectrum of life, today and every day, not just on Rare Disease Day.
Lori Butierriesis a full-time caregiver to two children with disabilities. She uses her life experiences and the medical knowledge she gained from serving as a Hospital Corpsman in the United States Navy to help others facing similar hardships. Lori is an author for The Havok Journal, an official columnist for AwareNow Magazine, and a contributor to The Mighty. Likewise, other news sites like MSN and Yahoo! News have also republished select articles Lori has written.
Lori’s writing extends to children’s literature. Her debut picture book, GIFT FROM GOD, was self-published at the beginning of 2021 and placed as a finalist in two categories in the 2021 Next Generation Indie Book Awards. Lori’s long-term goals are to use her writing to educate others about, advocate for, and dismantle negative stereotypes regarding disability, mental health, and the military/veteran community.
As the Voice of the Veteran Community, The Havok Journal seeks to publish a variety of perspectives on a number of sensitive subjects. Unless specifically noted otherwise, nothing we publish is an official point of view of The Havok Journal or any part of the U.S. government.
© 2023 The Havok Journal