HPP Awareness Day

I sit here in the ICU at CHOP and I look at this beautiful boy, who did nothing to deserve anything that has come his way.  He has been dealt the hand of hypophosphatasia, a disease  I could hardly say at the time of his diagnosis, let alone spell. He was diagnosed here at Children's Hospital of Philadelphia in the Diagnostic Center and today - nearly 10 years later - we deal with complications related to his disease. This rash is our latest concern and we are trying to figure out what could be causing it. (btw Cannon was ok with me posting this picture because it's HPP awareness day and he wants to help spread the word)

Hypophosphatasia - or HPP - has opened up a whole new world to us - a world so complicated yet beautiful, filled with sadness and hope, fear and triumph, pain and peace, anger and joy. 

Today, I am angry at HPP. We suspect his Chiari malformation was caused by craniosynostosis, which is directly related to HPP. He had his surgery and now endures these horrific complications with his surgery including repeat surgeries, staph meningitis, and now some kind of a rash that we are trying to determine a root cause. Through it all, he somehow manages to smile, laugh and tell me he loves me out of the blue. He's a true HPP Hero. And my anger turns to hope for his future to know what great things this boy will accomplish in his life. 

I look online today at how our HPP community is celebrating. We are celebrating the fact that researchers are taking time to care about an ultra rare disease. We celebrate the week anniversary of the first-ever approval of a drug that has changed lives of patients living with HPP and has given many families so much hope after living their lives with none. We celebrate our beautiful children and patients that demonstrate courage that can't be described any other way than awesome. The smiles on children's faces as they tap into their inner superhero strength. They are the real heroes in this HPP Gotham City. I hope you will check out our  public Soft Bones Facebook page or visit our website www.SoftBones.org or even build your own superhero with this superhero builder that is a fun way to raise awareness of HPP www.EveryDayWithHPP.com

So many of you have read this blog and it makes my heart happy to think that I've been able to reach a few people and to make them aware of HPP. That little piece of knowledge can transform lives. That awareness could lead someone to diagnosis -- or inspire new research -- or could spur someone make a donation that funds a grant or a valuable program that makes a huge difference in the lives of these patients. 

A few important things I hope everyone will share:

• Early tooth loss of baby teeth is a telltale sign of HPP. Have a friend or know someone who is dealing with this - please encourage them to see an endocrinologist.
• Pay attention to your blood test. ALP (Alkaline Phosphatase) is a standard measurement on any regular blood panel. My whole life, it has come up flagged as low and no one ever mentioned or paid attention to it. Now I know it's because I'm a carrier. 
• Know someone with osteoporosis that isn't responding to their meds? Check their ALP level. It might be HPP.
• Know someone who keeps fracturing for no known reason or takes a long time to heal? Check that ALP level. It could be HPP.
• Just post that you know someone with HPP and they can learn more by checking out SoftBones.org.

Prayers work - and I hope you will say a little one for us. We would like to put this behind us and get back on the lacrosse field very soon. Happy Friday and Happy HPP Awareness Day!