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A Letter to My Rare Disease Community

Today is World Hypophosphatasia (HPP) Day—a day to recognize the impact of a rare and progressive diagnosis that can lead to chronic pain, broken bones, mobility and independence challenges, and many other life-impacting symptoms. We asked our ambassador Sharon Talkington, wife and caregiver of client David Talkington who lives with HPP, to write a letter in recognition of this day of awareness, advocacy, learning, and hope.

Living with hypophosphotasia, David Talkington is seated in a black manual chair wearing gray pants and a gray sweater. He is smiling with a salt and pepper beard and short hair.

To the hypophosphatasia global community,

Today is your day! I can hardly believe that we are here together recognizing awareness of hypophosphatasia, or HPP, around the world.

I remember the days when my husband of 35 days, Dave, and I were wondering if we would ever meet just one other patient like him living with HPP.

We prayed we would. We dreamed about what it would be like.

One day, through an online search, I found a website that connected me to a small group of people around the world who had HPP or had a family member or loved one living with HPP like I did.

We had hoped and dreamed that once we found one person, they could perhaps tell us one thing that has helped them with their HPP journey. Then perhaps we could share one thing that has helped us with ours. Instead of each of us having one thing, we would each have two things that might help.

As that group grew slowly in membership, I could not believe that though I was in the US and the group was headquartered in Canada, there were people from around the world connecting with one another. With all that excitement, I had other thoughts about the people I encountered: Who were they? Were they really patients with HPP? Could I trust them?

As I learned new things about HPP and connected with others, I began to make some connections, and one day I sent one of those connections my phone number. She was going through a really hard time. Then all of a sudden, we heard nothing from her. I just couldn’t get her off my heart, and I prayed for her.

Then one day, she called me. She told me she had been praying for help, and God told her, well, that woman sent you her phone number—so call her!

We talked for a long time, and she became my friend. Our first HPP buddy! She shared her story, and we shared ours, and that first connection was made.

This is how it works: we all need someone.

If you have not found your first HPP buddy, I encourage you reach out to Soft Bones or to a person you meet in any HPP community. You just might be the answer to their prayers, hopes, and desires for someone to connect with who gets it—who really understands your HPP journey. Everyone needs to find a friend to lean on during the tough days who will cheer you on when you think you can’t make it out of bed or take one more step.

Community. Family. Tribe. Call it what you like, but we all need one another.

We are not meant to walk this journey alone.

I have been honored to speak with many HPP patients and family members as a volunteer for Soft Bones. My husband and I have been honored to share our HPP story both live in-person and on webinars. I have to say that it’s been worth every minute, every sacrifice, to provide that connection and the feeling: “You are not alone. Yes, you really can do this. We are so thankful you found us!“

There are over 7,000 rare diseases and less than 10% have a treatment. About 1 in 10 people have a rare disease in the U.S.

We are not alone.

As an HPP community, we have truly come so far and have so much to celebrate! We have the first FDA-approved treatment for HPP, Strensiq. As a community that has their first treatment, we still have many people around the table still researching this disorder for other possible treatments.

I believe we are the hope of the rare disease community.

We’ve seen patients like my husband being helped by Strensiq as part of their treatment regimen, which is part of what Dave and I dreamed about many years ago thinking about the future for the HPP community. Of course, Dave’s journey is his own, and everyone is different—but we have been given a lot to be thankful for.

I am thankful for the HPP community we have found, and for Soft Bones, the US Hypophosphatasia Foundation, and Alexion AstraZeneca Rare for continuing to produce this medicine and not just put it on the shelf.

I am thankful for the researchers and dreamers and those who invest so that we could see this day come.

I am also thankful for every family member who has fought for care and to spread the word about HPP, including what it is and what is appropriate treatment.

I am thankful for HPP patients and parents who agreed to participate in research.

I am thankful for those living with HPP who paid the ultimate price and have died from HPP. They are our HPP angels, and trust me, there are many names I remember, many memories that come up, and I have shed many tears over this. We need more research so that one has to face that valley again and can live a full life.

I am thankful for the doctors and healthcare practitioners who told us, yes, it’s HPP—but no, don’t pursue this treatment, or it will be like putting gasoline on the fire for you.

I am thankful for our family—natural and spiritual—who has loved and supported us in our HPP journey. The day is bright!

For those who know HPP, I want to challenge you.

Share with your family, your friends, health care professionals you are seeing, and those you know that a low alkaline phosphatase level can be the tip of the iceberg for an HPP patient who is not yet diagnosed. It could be the key to unlocking the mystery for an undiagnosed or misdiagnosed patient and the appropriate treatment options being presented so they can make an informed decision about their treatment and how they live their life.

Happy World Hypophosphatasia Day, whether you are seated around this table as an undiagnosed patient, a misdiagnosed patient, a newly diagnosed patient, a diagnosed patient, a family member, a loved one, a caregiver, a researcher, a doctor, a health care practitioner, an HPP community volunteer, an employee at Alexion AstraZeneca Rare Disease or PantherX Rare Pharmacy or Snow or One Source, or a volunteer or professional working for a Patient Advocacy Group.

What you are doing has helped us move this mountain.

Keep going: we are not done until everyone has access to an accurate diagnosis and an appropriate treatment plan of their choice or cure for HPP.

I truly believe the best is yet to come!


Sharon Talkington

Sharon and David Talkington, Help Hope Live Ambassadors and a family facing hypophosphotasia, smile with their daughter between them wearing matching Hope Travels 5K light teal t-shirts.

Learn more about David and Sharon or make a donation on David’s Help Hope Live Campaign Page, and subscribe to keep up with the latest from their HPP journey.

Written by Emily Progin