Thursday, February 28, 2013

Deborah Sittig: Mom on a Mission for HPP

Deborah Sittig, HPP Health Hero
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, this is her reality. And, in honor of Rare Disease Day today, here is her story.

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

Here are also some Haiku to commemorate today and to acknowledge Deborah Sittig, mother and health hero.

Deborah Sittig
Loving mother and hero
HPP her cause

Rare Diseases Day More than seven thousand kinds
Let's support this cause

Life with HPP
Can be challenging, scary
A mother's mission

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 a force to be reckoned with.











 





 
 

Thursday, February 14, 2013

Celebrating Love

I wanted to take this time to wish you all a Happy Valentine's Day.

Today is a day about love. It's not just about the relationships we are in with husbands, wives, boyfriends, girlfriends, fiances or partners. It is about the love that is all around us through friendships, family, pets, coaches, teachers and more.

I know this all too well as there were many Valentine's Days past that I did not have a significant other. However, I was fortunate and truly blessed with the love from dear friends and family, which spoke volumes.

Today is a reminder of the love in our lives. The love we feel for ourselves and the love that we give to others and receive. Love is also with our parents, siblings and friends. Love is all around the world, even on days when the clouds are gray.

We should also take a moment to look at the people in our lives we surround ourselves with. What I mean by this is that today, is as good a day as any, to make sure we are surrounded by people who make us happy, inspire us, impact us, and remind us of the strength we have within, and the power we have to make others happy and motivated. 

We have all heard the phrase, and I am paraphrasing here, "he brings out the best in me." 

Let's look around and see who in our circle is bringing out the best in us.  While there are days we feel blue, because life is not perfect, it is important that we surround ourselves with people who inspire us to strive for more and to love the life we are in.

For those of us who are parents love comes in our children. It is a love that is hard to describe. A feeling that cannot compare to any other. A love that is unconditional and selfless.

For this, I am truly loved, and fortunate.  And, for today, I share my love and my daughter's creations to show you how much I appreciate you for following me here on this journey at Mommy's Point of View, and for being understanding when many days, and sometimes weeks go by, and I have not written.

To commemorate today, enjoy some holiday Haiku.

Thank you, my readers
For your love, feedback, support
Appreciate you

Happy Valentine
Cards, candy, hugs and kisses
A day filled with love

The sweet smell of love
Emotional, physical
Appreciation

A sweet, tender kiss
By a child on this day
Life in perspective

Wishing you much love
Today, tomorrow, always
Filled with hugs, kisses

Happy Valentine's Day!

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