Friday, February 27, 2015

Rare Disease Day on February 28

Tomorrow, February 28, is rare disease day. 

Being a parent is a tough job, as many of us know and experience first hand. We worry about our kids when they are little and as they get older, and even well into their adulthood. The reason: because being a parent never stops and that's what we do. We love our children to the point that it hurts. We want to protect them from harm’s way and to prevent them from getting hurt emotionally and physically.

Now, elevate that worry for a parent who is raising a child with special needs. There is a whole different kind of concern that they have to live with and manage on a daily basis to keep their children safe and protected.
Imagine what it would be like to raise a child living with a rare disease that only 1 in 100,000 people are diagnosed with and where there is no cure or currently approved treatments to do more than just manage the disease's symptoms.

For one mom in particular, Deborah Sittig, my boss and friend, this is her reality. And, in honor of Rare Disease Day, here is her story.

I shared Deborah's story last year on my blog, and felt it was important to share again as this disease continues to be rare and the community of families impacted by this disease are growing.

Deborah's son Cannon, one of her three children, lives with a disease called hypophosphatasia (HPP), an inherited metabolic bone disease that results from low levels of an enzyme called alkaline phosphatase (ALP), which is normally present in large amounts in bone and liver. Abnormalities in the gene that makes ALP lead to production of inactive ALP for people living with HPP.

The severity of this disease varies from patient to patient, which includes both children and adults, with the most extreme cases failing to form a skeleton in the womb and are stillborn to those mildly affected showing only low levels of ALP in the blood, yet never suffering any bony problems.

Cannon Sittig, HPP patient
When Cannon, was just 4 months old, Deborah noticed something was a bit off about his body and his development. She said, “His wrists looked wide. He did not bear weight on his legs. He was not a strong sitter. My pediatrician blamed it on low muscle tone and said this one “won’t be our athlete.”” 
Deborah could not let it go. She wanted to figure out what was causing the low muscle tone and why her baby’s wrists looked the way that they did.

That is when her extensive research began. She frantically scoured patient forums, read every possible website, emailed and chatted with patients, and conducted endless Internet searches leaving no stone unturned to get to the root of her baby's problems.

When Cannon turned 18 months he received his HPP diagnosis. Deborah said, “That was the one web search with results that left me breathless. Children diagnosed with HPP have a 50 percent chance of survival. Many go on to do quite well.”

I don’t know about you, but I am having a hard time breathing thinking about what could have gone through Deborah’s mind with worry for her child.

Having a child with special needs was one thing, but having a child to endure life with a rare disease where very little information and resources were available, let alone treatments to cure or even manage symptoms was a very scary place for Deborah, and the many parents and caregivers of children and adults living with HPP.

As a result, she began her mission for awareness and public policy around HPP. Deborah founded an organization called Soft Bones: The U.S. Hypophosphatasia Foundation. Because there were little to no resources specifically dedicated to this disease impacting her son, or a place to vent, cry, express, and share, she made it her mission to create that haven for others.

The mission of Soft Bones is to “provide valuable information, education and support for people living with HPP, their families and caregivers." The Foundation also promotes research of this rare bone disease through awareness and fund-raising efforts. The organization has been running now for six years.

The following heart felt video was created of the many faces of HPP around the world to commemorate Rare Disease Day and to recognize this terrible disease, HPP.

To help show support, let's take action let's tweet and post this story and the mission of Soft Bones in various social media channels and share it around to help spread the word. And, if you would like to do more, feel free to visit the Soft Bones website to make a donation to research this important cause. 

Deborah is one of many health heroes. But, at the end of the day she is a loving parent dedicated to doing everything she can for the sake of her children. It's her commitment to helping others that makes her someone I admire and support.

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