Living with HPP- Amy W.

My name is Amy. I am a 53 year old newly diagnosed member of the HPP community.

I have been living with a mild infantile hypophosphatasia all of my life. My very first memories are of being in pain. I was hospitalized when I was 9 months old for a month with pneumonia. My twin sister and I had very bad growing pains and we remember our mother lovingly rubbing our legs to help with the pain. In 4th through 6th grade, we had to run around the track and climb a rope every day. My team lost every day because I simply could not do it.

I am relatively clumsy, have a mouth full of fillings and a hard time breathing.  I have broken several ribs, fingers, toes, my wrist and had several concussions and bouts of pneumonia. I grew up with and still have terrible migraines, some eye, hearing and speech problems and brain fog that will come and go. I also have experienced many shin splints, very painful feet, what I call “roving joint pain” and an “all over pain”. I can hear my joints when I walk. Each morning I wake up in pain.

Recently, a rheumatologist was demanding that I had to be specific about the pain and was not satisfied when I said that the only places I don’t hurt are my nostrils and my ear lobes. Turns out that I have bone pain, joint pain, muscle pain and nerve pain. As a young teenager, I started passing out and was told that I would grow out of it.

At age 53 I was told again that I would grow out of it! So many times I have tried and given up on finding an answer to what was wrong with me. I’d say 40 hit me like a ton of bricks and since about 50 my health has steadily gone downhill. At this same time with the help of my sisters, children and nieces, I started compiling a list of our common health problems. Realizing that this must be a genetic thing, I tried to get an appointment with a geneticist in Philadelphia but they were only taking cancer patients. Finally, I found a geneticist online. By then, our family thought we must have hEDS so I was looking to rule out all the forms of EDS that have a known genetic marker. I did a genetic test for “things like EDS” and then one for “all other things they could test for” and came back with a defect in my ALPL gene.

Even with that, the geneticist said that it was NOT the cause of my problems. Three weeks later, I got an e-mail with updated results saying that I had hypophosphatasia and that it could very likely be causing my problems. After 40 years I was so happy to have found the answer. I also cried and cried at that same answer.

The fact that this is not just about me but also my children, grandchildren, siblings, nieces and nephews has been the hardest thing for me. Not once in my life have I actually spoken to a doctor who knew what I was talking about! My appointment with an endocrinologist at the Penn Bone Center in Philadelphia is scheduled for early in 2021.

Even with all these ailments, I have been active all of my life. Most people do not know that I am sick. I took dance classes, gymnastics and horseback riding as a child and ballroom dancing with my wonderful husband in my late 30’s and 40’s. I hiked in and out of the Grand Canyon several times and harvested olives in Italy. I have enjoyed building projects and am currently working on a building new house that will be more handicapped accessible.

One good thing about the diagnosis is that it has allowed me to look back with more compassion on the younger me. My son once said, “Mom, when you jog, try to move forward.”! I can’t imagine being able to jog but I can now remember when I was younger about how impossibly hard and painful it was to hike out of the Grand Canyon and be proud instead of embarrassed. I always had a feeling that things were harder for me than they should be but I appreciate now that it made me a good problem solver and a super hard worker. I can be proud of all that I have accomplished even with HPP and I will try to support my family members and others who also suffer from HPP by learning as much as I can about it and guiding them to help. I thank the people at Soft Bones for reaching out to me very early in my diagnosis to help guide the way for me. I look forward to getting treatment for my family and myself. I am happy to be able to redirect my efforts of finding an answer toward getting treatment.

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