Patient of the Month- Carol L.

My HPP story started at a very young age. I was quite young and our bedroom was upstairs, and the bathroom was downstairs. I would wake up about 15 to 20 times a night to go to the bathroom, I would get downstairs, and there I would sit and sit before I started to urinate. 

I would get up and go back upstairs and I would need to empty again. Finally, I would lay on the bathroom floor and fall asleep, because I was so exhausted from going up and down. The doctor’s could not figure out what was wrong with me, they would admit me into Pediatrics and run every test, with no answers. This is the silent beginning of HPP. My parents were so frustrated with me and I could feel it.

As I started to grow older, I was very thin, and lanky, always looking pale and sickly. My permanent teeth came in with no enamel on them, which created a new problem. At eleven years old I got a horrible gum infection where one side of my face swelled up like a balloon. I was so sick and felt the end nearing. We were very poor, my dad left us and my mother literally had nothing. Finally my mother had to take me to the emergency room because I was fading fast.

The doctors told her that if she would have waited 24 hours more, I would have died. I had to get penicillin shots every day for 7-10 days. I would take the bus downtown and get my shot. After the infection was gone the dentist told my mother that I would have to have my front teeth pulled so the infection could continue to drain. My stepfather cleaned commercial buildings and offered to clean the dental office for a partial for me. I was so grateful to have the partial, although it has caused me so many jaw and neck problems, due to the fact that I was so young starting with a device in my mouth.

When I was 45 years old, I had horrible pains in my lower abdomen. After suffering all night long, I started to bleed rectally. They admitted me and after every test, the biopsy came back as ischemic colitis, which was unheard of for a 45 year old. I almost died and with great care, I obviously survived. It was a very rough road coming back from that and I literally lost 20 pounds in one week. The doctors were surprised by this biopsy report and couldn’t explain what caused this kind of problem in someone so young.

As I became an adult, I’ve had six shoulder surgeries, one being a replacement. My joint had to be replaced because the joint actually became diamond shaped and kept pulling out of place. It was so painful and I had no idea what would cause such a degenerated joint. I was always so hyper flexed and I feel like a rag doll at times, nothing holding anything in place. My back will literally move around and it feels like I’m pulling my spine around. Very weird feeling. I do have scoliosis and my back had so much pain in it, that the Orthopedic Doctor had to do an ablation.

So far it is helping subdue some of the pain. I have a lot of balance issues. I had a vertigo attack and after much testing, I had lost 40% of balance in my left ear. I’ve lost a good amount of hearing from all of this, but also balance issues.I had meniscus rips in both knees that required surgery, a knee replacement, and a bowel resection. 

My life was in constant pain all of the time and I worked all of the time, so that I didn’t feel the constant pain so bad. If my mind was occupied I could function, and I held very high end jobs. I retired as the Director of our County Board of Elections. Not an easy task, but it helped to keep me moving and my mind occupied. Giving up was not a part of my personality.

I would get a shingle outbreak about every couple of months. My Rheumatologist referred me to Infectious control and he ran the shingle blood test and confirmed that it was indeed shingles. He ordered Valtrex daily for me to take so that I don’t keep getting them. He explained that shingle outbreaks like this will ruin my nervous system. So far the medicine works for me and no shingles; although, I went on vacation for a week and forgot my Valtrex and sure enough I got an outbreak under my tongue.


My immune system is very low and I catch literally everything. Because of my low immune system, I have had MRSA twice and the first time became septic, I had to be sent by ambulance to a larger hospital and had surgery to clean out the MRSA, the second time I was hospitalized again for another 5 days and surgery again. My friend, a dermatologist, told me to blow dry my entire body after a shower, because MRSA loves moisture. That is now my regular daily routine after a shower.

Now I’m 67 years old, and all of a sudden, I couldn’t walk. I had just retired and my husband and myself were looking forward to our three week vacation in Florida. Out of nowhere my left ankle started hurting so bad that it brought tears to my eyes. I went to my family doctor, he ordered an X-Ray, and it didn’t show anything so he told me that he had no idea what was wrong and walked out. I got home, so frustrated and called my new Rheumatologist and told the receptionist what I was going through and she had me come in. The doctor did an ultrasound on my ankle and told me that he was going to order some blood work. He gave me a shot of cortisone, in my ankle, so that we could go to Florida. I literally thought that I would die from the pain walking through the airport, but we had been looking forward to going.

I rested almost the entire three weeks, and my ankle started to feel a little better with great relief. When we got home I had my appointment with my Rheumatologist and really didn’t expect any answers, which was the story of my life. When I got back to see the doctor, he started asking me a ton of questions, especially about my teeth. I answered his questions and then asked him why he was asking so many questions about my teeth. He then told me about my low Alkaline Phosphatase result and my vitamins B6 level that was 100 times higher than normal. I knew I had low Alkaline Phosphatase level for many years. I was a lab tech and I questioned my low Alkaline Phosphatase level many times, and I was always told that unless it’s high, we aren’t concerned.

I never saw anyone have a low result, and we ran many chemistry profiles. I did ask many doctors through the years about it, but nobody worried about it. Well, Dr. Mandel did figure it all out and explained to me that I had a rare genetic disease called Hypophosphatasia and that there was a treatment called Strensiq, he warned me that it was very expensive but, not to panic. He will help me through everything and he did. I walked out of the office stunned, could this be the answer?

Unfortunately Covid hit and I had to wait about six more months to get things rolling. Ohio closed down and the doctor closed his office through this time. Finally I got a call from One Source and we chatted for about an hour, she explained everything to me and I felt much better with many of my questions answered.

I had been considered a hypochondriac from family members, co- workers, doctors, and friends. I was so fatigued and I had to force myself at all times to keep going. I do have a very strong mind and it has helped me through it all. I’ve experienced brain fog my whole life, I thought everyone had this fog. I learned to work through the fog and it did help. Having a strong and determined mind has helped me cope with it all. My brother has been tested and he has the same mutation as me. My daughter, sister, and other brother have not agreed to be tested. I tried to convince them, but it is their decision to make.

I just turned 70 years old, and I give myself the Strensiq shots three times a week. Since treatment, I definitely feel better, not a lot of brain fog and my fatigue is so much better. I still have a lot of pain, especially at night, but at least I know why now. I’m still experiencing a gait problem, some days I’m fine and other days I feel like I’m going to fall. Not sure why this fluctuates but it definitely does.

I try to educate doctors, dentists, and the general population of this progressive disease. I hope I can help someone else from going through everything that I have gone through my entire life.

If you would like to make a donation to Soft Bones in honor of Carol, please click here. 

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