Living with HPP: Sue K.

Born in 1960 with broken bones and a large fontanel they knew something was wrong. By the age of 3 months and my failure to thrive and not gaining weight, they took tons of tests and figured out I had hypophosphatasia (HPP). They told my parents to love me and I wouldn’t live long, at best 3 years old. When I turned blue, take me to the nearest hospital and say goodbye. They were also told that I wouldn’t walk, or have a normal IQ so don’t bother to teach me things, just love me while you can and sent them on their way.

At 6 months of age, I broke both femurs trying to roll over in the crib, this was the first time my parents were told I had soft bones and would get 100s of fractures. In fact when they x-rayed me they found 7 other fractures. I made it to my first birthday barely. I weighed 9 lbs 5 oz at birth, I weighed 6 lbs 4oz at 1-year old, but I was still living, talking and smart. At the age of 3, we went back to the specialist that diagnosed me at 3 months old and asked my mom where I was , she said right here. I was walking, talking and had a vocabulary of a 7 year-old. He was so stunned he got 7 other doctors to see me; and they quizzed my parent how they kept me alive, through the 4 cases of pneumonia and 12 broken long bones. She said to them “I guess you doctors better get better information on HPP” and walked out.

I have not only lived past 3 but am now 54 years-old. At the age of 5 ½ the orthopedics decided they would change the diagnoses to Osteogenesis Imperfecta (OI) with unexplainable low alkaline phosphatase (a missed diagnoses). Since there were no recorded cases in Chicago of anyone living past 3 with HPP they wouldn’t use it. The diagnoses of HPP or OI changed with every new doctor I saw over my life until 2009 when I had DNA testing to prove it was hypophosphatasia. I have not 1 but 2 mutations; perinatal and infantile forms. With the help of my family I achieved the normal goals of school, college and working—even though I can break a rib from a sneeze or still caught pneumonia from a common cold. I break 3 bones a year but thanks to the rods I don’t get displaced fractures anymore.

Living with HPP, a rare bone disease, has been a challenge and struggle every day for the last 54 years. I have had 93+ fractures of long bones (not counting hands , feet and ribs because I break those almost tri- monthly), 30 rodding’s of the long bone, 1 hip replacement because the ball wore through my pelvis, and 4 level cervical fusion (I have 16 screws, 1 plate, 2 rods holding my head on), 4 curve scoliosis causes constant nerve root pain. I lived knowing I have a rare and unknown disease to most physicians that have no idea how to treat it.

HPP will continue to deform my skeleton with fractures, bowing bones, and chronic pain making life a daily challenge to do normal things more difficult.

I live each day with this motto “I have Hypophosphatasia but Hypophosphatasia doesn’t control who I am or what I can achieve today. Do what you can today because tomorrow might be worse”.

I enjoy life and helping family and people newly diagnosed with HPP understand what is happening to their bodies.

Sue Krug