Rare Disease Day

February 29 has been designated Rare Disease Day.

According to Patient Worthy,

In the United States, at least 25-30 million people are living with a rare disease. Many rare diseases are genetic and 95% of them have no treatment options. Other challenges faced by people living with rare diseases include:

• Delayed or lack of diagnosis
• Little to no medical research or drug development
• Feelings of isolation or being ‘left behind’ in the health system
• Very high costs for drugs and treatment

From Rare Disease Day.og,

Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

72% of the diseases are genetic and almost 1 out of 5 cancers is rare.

For several years I have shared our story. Our daughter, now 20, has been diagnosed with what was called a disease, but now is defined as a disorder. It is a rare condition, so rare that our pediatric endocrinologist had to consult with doctors in Italy back in the day. The condition? Albrights Hereditary Osteodystrophy.

The last couple years I’ve seen the name switch over to pseudohypoparathyroidism type 1A, Like most rare situations, she was diagnosed later in childhood. The issue back then was had it been identified, she would have been put on growth hormones. That didn’t happen, so her bones fused together. I can’t remember her age but she might have been 9-11. Her bones measured to be 18. She stopped growing and is 4’10”. Thankfully, we are a short family and few know why she is a little shorter than we are.

The things we have to watch with her are joint pain or her lips turning blue. If her phosphorus and calcium levels are off it can cause problems with her joints and possible seizures. We’re thankful this has never been the case.

She takes a medicine to help those levels, and between this and hypothyroidism, she takes Vitamin D. At one point that level was so low she had to take 25,000 units. She now takes 3,000 every day.

Not much is known about the teen/reproductive or beyond years. Her endocrine system runs slow even for those with hypothyroidism, so she takes medicines to induce menses, and even that only happens a few times a year. If she plans on having a family, she will need to see a specialist.

The hardest part about it, I think. is the lab work. When she was younger it was obvious when she left class early for specialists and lab work. She is a very hard lab draw. Because she doesn’t have something that is visible, few know her struggles, which also include asthma and first year where she was chronically ill and at one point nearly lost her. That caused some developmental delays, and each year that gap has moved. I believe it will be closed so she can drive, the one thing we’re waiting and believing on that for comprehension, isn’t quite there.

For all she’s overcome, we focus on the amazing rare. We were told when she was a baby she would most likely have mental retardation. She was put in Spec Ed for a month until they realized she was bored. She outgrew the need for an IEP. She graduated from high school with an amazing GPA and a member of National Honor Society.

When we long ago thought college would never be in the cards for her, she is a sophomore at Southeastern University Ohio as an online student. She’s made the Dean’s List every semester. She has an internship with the Chi Alpha ministry at Youngstown State University. Last year she traveled with Chi Alpha to the Los Angeles Dream Center and served for a week. She is returning this year.

We know with Rare Disease, every patient has a different circumstance, even with the same diagnosis. We are very aware that many parents have daily therapies and appointments. We know God promised me when I was pregnant our daughter would be an overcome. That promise has trumped all the outcomes the medical community has fed us over the years.

I hope this gives you a glimpse into Albrights Osteodystrophy and Rare Disease Day.

Sources/More Info:

https://patientworthy.com/2024/02/15/rare-disease-day-share-stripes-patient-worthy-2-2/

https://rarediseaseday.org/what-is-a-rare-disease/

About Albrights Osteodystrophy