02/28/2022
Once a year, on February 28th, we pause to celebrate Rare Disease Day in honor of Carter and all the other kiddos who struggle daily with a condition that is unknown to doctors. Trying to do our small part to bring awareness to many rare diseases worldwide!
Rare Disease Day actually falls on February 29th (the rarest day of all) but it is celebrated on the last day of February. This day is SO important because there is not much funding, information or support for rare diseases. Unfortunately, when something doesn’t affect a large group of people the profit for research and development is small.
If you’re unfamiliar with rare diseases, here are some interesting facts:
”Rare Diseases” are diseases that affect fewer than 200,000 people in the United States.
The majority of rare diseases are observed at birth or during childhood.
90% of rare diseases are currently without any FDA approved treatment.
Most rare diseases are genetic, or have a genetic component.
There are approximately 7000 rare diseases worldwide.
Carter was born with 3 rare diseases. One is hypopituitarism which is the malfunction of the pituitary gland. Carter's is absent totally. I advocate to bring awareness to Invisible disabilities, also known as Hidden Disabilities or Non-visible Disabilities, are disabilities that are not immediately apparent, are typically chronic illnesses and conditions that significantly impair normal activities of daily living. So instead of thinking someone is lazy and “out of shape” because they get winded easily, they could have a non- visible disability. So my advice is BE NICE AND BE A DECENT HUMAN.
Carters second diagnosis is genetic, the partial duplication on Xq27.2. There are only four other cases in the US genetics database with this. I found there are 2 in the UK. I have talked to moms in other countries with kids that have similar numbered conditions but I have not yet found one with the exact same one.
Carter's 3rd condition is called "Vermian Dygenesis" where the back of his head is "sloped" downward around where the pituitary gland should be.
Rare disease is not black and white. It comes in SO many colors! — Why is the zebra the symbol of rare disease— well Doctors learn to expect common conditions. But many medical professionals seem to forget that “zebras” DO exist and so getting a diagnosis and treatment can be more difficult for sufferers of rare conditions.
When I had Carter I remember the doctor stating " He will live a normal life with medication". I wish I could speak to that doctor today. Carter's first 4 years has been everything but normal. They weren't sure if he was not going to walk or talk or both. But with the help of our wonderful therapists. They believed in him. Especially Ms. Nicole Castiuax ( I probably spelled that wrong). But thankyou to her and all the doctors and fort zumwalt early education. Carter was also diagnosed with autism and when we first found out. The early childhood team was there for us and knew exactly what to do. They collaborated a plan around Carter's needs that worked for him.
I share our story as motivation and to show that a disability doesn’t define you. “You can’t have disability without ability” I 100000% believe in therapy.
As crazy as this world is… PLEASE BE KIND. Love each other! You might think I’m crazy for celebrating today, but my son is alive from all the research people have put into it. I’m so blessed.
If you made it this far, thank you and God bless. 💕
Happy rare disease day too all of our friends. We love you! 😘😘
