Sue Krug’s Hypophosphatasia Story (Part 2): A Tale of Misdiagnosis, Strength, and Resiliency

1967

In 1967 my ortho said “this has to stop.”

I would just get out of traction; then a cast; heal; then be able to walk for 2 months and something would break again. So, he got me in to see Shiner’s Doctor Harold Sofield. Dr. Sofield had developed a surgical treatment that showed great promise for children with mild hypophosphatasia (HPP) and osteogenesis imperfecta (OI). So off we were with a suitcase full of x-rays and all kinds of blood workups to yet again another doctor and hospital. I remember my mom saying that this was going to be another dead end; well it was not.

After telling this doctor my history he did a clinical diagnosis and said there was no doubt with my robin’s egg blue sclera, barrel pectus chest, and the fact that I had transparent bones on x-rays, that I had OI. However, he couldn’t figure out why my ALP was so low. He said the treatment is the same for HPP & OI – rod the long bones and get me up and walking with braces and crutches, so that I can weight-bear and make stronger muscles.

So, from that point on I was officially diagnosed with OI and not HPP without any further testing

1967

In December of 1967, I had my first shish kabob rodding surgery (invented by Dr. Harold Sofield) of my femur, and it changed my life for the better. In six months, I had the other femur done and then the tibia’s (these surgeries were done at West Suburb Hospital in Oak Park, not the Shriners hospital). We had health insurance so Shriners wouldn’t take me as a patient. Back then they took uninsured kids first and then they let insured kids into their clinics. Sofield wanted my femurs rodded immediately (since I just fractured another femur while waiting to get into the Shriners), and he worked at both hospitals. By 1968 I was able to walk around my house and my neighborhood with crutches for months without any displaced fracturing; I couldn’t do this before the bones were rodded, the bones were too weak and would fracture without any trauma.

I grew stronger every year and soon I was free walking for short distances, and I was in school and doing fine. I was only using a wheelchair when there were minor cracks, and they continued crack on a regular basis, but the rods kept them in place, so no intervention was needed. I just used soft ace bandages and cast tape (soft casts) or what is called a splint cast with strips of plaster only on the sides for support.

I went to a school for disabled children called Christopher in Chicago, IL. There, I had physical therapy every day as well as a regular school setting.  This was a school for physically disabled children and we were expected to keep up with our education even though we were in casts, braces, walkers, or receiving IV antibiotics. They had a full-time nurse and an ortho on call and the teacher’s aids were CNAs that would help transfer you in and out of wheelchairs to desks seats.

1974

The re-rodding surgeries happened about every 1 to 2 yrs for every femur/tibia because of growing spurts. I would grow just enough that the unprotected bone would start to bow again. The fractures occurred mostly in the femur bone. This went on until I was 14 yrs old (in 1974 I started high school, weighed 56 lbs and was 4′ 5” tall) when I had to get a new ortho (the other retired). He questioned the OI diagnosis, and said “No, I think you are HPP” but he said he didn’t know what type of HPP because if I had it from birth and I’m this fragile, you just don’t live.

So, I’m labeled with OI or HPP again. Again, it didn’t matter the name. There was no treatment for either except the rods, and this would be the only thing that would keep me walking and in very little bone pain. By this time my parents and I didn’t really care whether I was HPP or OI, it meant the same thing- brittle bones. I was basically a normal teenager except with short stature.

I only had one fracture throughout high school and was leading normal life on crutches. I would have to say the only thing I noticed different from my of my peers was that I would get fatigued sooner and of course I couldn’t fall otherwise I would crack. I did get stress fractures, but the rods would hold my bones together and I didn’t really need to be hospitalized. I would just wear a splint for a few weeks and maybe be in a wheelchair while I healed. I only had one radius fracture in my teens. In fact, my arms quit fracturing when I was 11 yrs old. Fingers & toes always break. My adult teeth came in but not all were developed. The top part of the tooth never closed so as it came through the gum it would get infected and it would have to be pulled or they would try to save it by capping it. It sometimes worked sometimes it didn’t.

The only thing that saved most of my front teeth even though they were unstable was veneers, and every 3 months they would put sealer on all the teeth to protect the little enamel that they had. The back molars came in and lasted only months to a year before they had to be pulled. My wisdom teeth were the best of them- all white and strong. They became my chewing teeth.  My adult teeth wore down fast or cracked and either had to be removed to only die without any trauma. The ones that were good were loose and they had little or no enamel on them, so they were brown in color I had veneers put on the front teeth to protect them.

1978

The winter of 1978 (I’m 4′ 11” tall and weighed 91 lbs) after 1 semester of college, my femoral rods needed to be replaced again. During the rodding Dr. Ralph Lidge did several osteotomies and he took a marrow and bone sample and sent it out to a lab that uses a special microscope to look at the bone sample.

The results came back and showed a collagen defect. Some of the rods were cracked and demineralization was all over. There was no DNA back then to confirm their results. At this time, we started to see some major curving in the spine. I always had mild scoliosis and lordosis in the lumbar area and some compression fractures since I was young, but the curves seemed to stop in my teens, and I didn’t grow very much from then on.

1985 to 1993

In 1985 I broke the tibia. In this case, the bone just pulled apart and bent the rod. There was no trauma and it was not really a fracture. It was a slow tear apart from the center outwards. It pulled apart and that caused the rush rod to bend. When they went in to re-rod it, they said that both sides of the fracture actually had been cracking and pulling apart for so long the tibia just healed in two pieces.  Along that time my spine began to collapse more and now the cervical area was being affected.  Nothing was done to support the spine since any braces they had would put too much weight onto my pelvis and probably crack it. They didn’t fix spines of OI people back then.

From 1985 to 1993 I did normal daily living stuff and worked as an accountant and advertising person for my cousin’s roofing company.  I could work at home and take time out throughout the day to rest my back. I went on a fishing vacation and was able to climb in and out of little boats. I would scoot up hills in Arkansas and northern Minnesota. If I broke everyone in the family, including cousins, knew how to splint me.

I could break a foot turning over in bed, so as my family always told me- “you might as well be doing something you love when you break.” Do not let the fear of a fracture stop you from achieving the goals you have set.

There were times as a kid I would break an arm or leg the day we were leaving on vacation. Dad would put a lounge cushion in the back of the station wagon, mom would splint me, give me a baby aspirin, and off we went on vacation. If it was displaced of course the vacation would have to be cancelled. We always had splints, braces, and a supply of antibiotics with us, so I was good to travel.

1990

I had my first pelvis stress fracture but nothing was done. They just let it heal and I was fine within 14 wks, but I couldn’t free walk after that (I had to use crutches to equal the weight stress on the pelvis).  I had to use my crutches before to steady my walking and to keep full weight-bear off my legs. Doing any kind of walking verses a wheelchair was very important to keep up muscle tone, and mobility when you have hypotonia as an adult. If you didn’t push yourself every day and instead just sat around, the pain was twice as bad.

I was told at a young age that mobility was going to keep me alive and my bones from disappearing. So I did my best to do what I could every day.

1993

I stood up from the toilet, and my right distal part of the femur shattered into 6 pieces. This was after a day of trying on brides maid dresses on which meant shifting lots of weigh from one leg to another to step into the dresses. I feel that it caused a lot of microfractures that I did not pay attention to throughout the day. The section that shattered wasn’t protected by the rod. It had bowed off the rod and was on its own.

I had scheduled the re-rodding surgery the week after the wedding, but the soft bones didn’t last that long. They were able to put most of the pieces back together, but healing took 6 months and some revision surgeries for it to heal properly and achieve full range of motion. Total healing time was 2 years before I could stand at the sink without using crutches and the leg was able to support full weight after fully healing. But I was never stable enough to freely walk around the room anymore.

From 1993 to 2004 the old hardware held, and I was able to function. I did have to use a wheelchair for any mall shopping, but I was still fully mobile except for long distance walks like craft fairs.  In fact, in 1997 I walked around most of the paths at the Painted Desert and Petrified Forest. Yes, my legs ached afterwards, but I had the stamina to do that. I’m not talking more than a mile at any given path. I continued to have stress fractures (by this I mean a hairline crack that extended across the entire bone) at least 3 times a year throughout my long bones, but none that needed a surgery or big cast to heal, just braces and splints with ace bandages.

1998

In 1998 my parents and I moved from the Chicago area to Tucson, AZ to get out of the cold weather.

2000

By 2000, an ever sudden sneeze would put a crack in one of my ribs again just like when I was in toddler. These cracks would cause walking pneumonia. The hard coughing then caused compression fractures in the spine.

2002

I stepped hard on my right leg after minor slipping on a seed bead at Michael’s, and I cracked the femoral head. I just rested to heal it, and it took about a year to fully heal and have a full range of motion. I wasn’t able to walk on it for 5 months so this took what quad muscles I had and turned them very weak.

Stay tuned for part 3 of Sue Krug’s story!

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