Born in 1960 with broken bones and a large fontanel they knew something was wrong. At 3 months my failure to thrive was obvious and I was not gaining weight.
They took tons of tests and finally came up with a diagnosis: I had Hypophosphatasia.
They told my parents to love me and to help me enjoy my life–because it wouldn’t last long. At best, they told my parents, I would live till three-years-old.
They were told that when I turned blue to take me to the nearest hospital and say good bye. They were also told that I wouldn’t walk, or have a normal IQ so don’t bother to teach her things, just love her while you can, and they sent them on their way.
At 6 months I broke both femurs trying to roll over in the crib, this was the first time they were told I had soft bones and would get hundreds of fractures. In fact when they x-rayed me they found 7 other fractures. I barely made it to my first birthday , weighed 9 lbs 5oz at birth I weighed only 6lbs 4oz at 1 yrs old.
But despite it all, I was still living, talking and smart.
At the age of three years old we went back to the specialist that diagnosed me at 3months old and asked my mom where I was in my progression. I was walking talking and had a vocabulary of a 7 yr old. He was so stunned he got 7 other doctors to see me; And 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 yrs old. At the age of 5 ½ the orthopedics decided they would change the diagnoses to Osteogenesis Imperfecta with unexplainable low alkaline phosphatase (a missed diagnoses). Since there were no recorded cases in Chicago of anyone living past three with HPP they wouldn’t use it. The diagnoses of HPP or OI changed with every new doctor I saw over throughout my life, until 2009 when I had DNA testing to prove it was Hypophosphatasia.
I have not one but TWO 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 still break and average of about three bones a year but thanks to the rods I don’t get displaced fractures anymore.
Living with hypophosphatasia (HPP), a rare bone disease, has been a challenge and struggle every day for the last 54 yrs. I have had 93+ fractures of long bones (not counting hands and feet and ribs because I break those almost tri- monthly), 29 roddings 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. 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.”
Having HPP means knowing any minute I can be in excruciating pain from a fracture or dislocation with little or no trauma to myself; but I won’t let that control what I want to achieve or dream.