Living with HPP: Susan B.

Hello! My name is Susan B. My husband, Robert, and I have one daughter, Olivia. She was diagnosed with HPP at age 2 (about 29 mo). Our family is from Kansas, just south of Kansas City. We work in real estate and investment properties. Olivia loves ballet, gymnastics, playing the piano, and being with friends. She is currently in the 3rd grade and loves art and science.

Right around her 1st birthday, her pediatrician recommended we take her to our local children’s hospital and have her seen through a nutrition program due to low weight and delayed milestones (diagnoses: Failure to Thrive). For the next several months, we suffered through several appointments that did not bring any answers in our search for what might be going on in her body. She wasn’t taking any steps without assistance and her weight gain was very slow. During the summer of her 2nd birthday, she lost 3 teeth with not even a minor impact. The pediatric dentist we talked to said that “some kids loose teeth early” and did not seem concern. In October that same year, while playing at the park, Olivia experience a simple fall that resulted in a fractured femur. That turned into a visit to the ER at the same local children’s hospital. After x-rays and labs, they determined that she had something wrong with her bones.

The following months included several follow up appointments with nephrology, genetics and orthopedics. One of the specialists that we saw referred us to Shriners hospital for Children in St. Louis, MO. During our stay there that following December, we heard the word hypophosphatasia for the very first time.

When she was first diagnosed we felt overwhelmed with emotions. Sad for our little social butterfly and everything that she would have to walk through on this path, relieved to finally have some answers and support, and confident that we would all be strong enough to make it through with hope for better days. We prayed for strength and healing and were immediately surrounded with prayers and support from our church family.

If you or someone you love has recently been diagnosed, hold on to hope. Our daughters’ diagnosis and this long struggle through the pain and exhaustion have made us all stronger. Some of our most encouraging moments have been from our community of friends inside as well as outside our HPP family. The support we have had from our Soft Bones family has been phenomenal! We encourage you to connect online and in person through national and regional meetings. We have also gained much needed support and information through serving the HPP community through events and fundraisers.

My hope for the HPP community is connecting with more families through these events, through social media and most importantly face to face in our regional meetings. We hope to continue help raise awareness and funds to further awareness about HPP and hopefully one day see a cure!

After her diagnosis, we were told that there were drug trials going on that might soon be in the final stages of FDA approval. We spent the next 3 years, watching her diet and going to physical therapy. At 2.5 she finally took her first independent steps. Though she struggled, she thrived. She has always been an easy, happy child. Starting on Strensiq in 2015 (at age 5) was a life changing day. Within a few days, she jumped without falling in pain for the first time. Within a few weeks, she walked up the stair without assistance for the very first time. Within a few months, I heard myself tell her to stop running for the very first time. She was beginning to forget about her pain before Strensiq. She was gaining weight. Her legs were beginning to straighten out as she grew taller and stronger.

My hope for the HPP community is connecting with more families through these events, through social media and most importantly face to face in our regional meetings. We hope to continue help raise awareness and funds to further awareness about HPP and hopefully one day see a cure!