Sue Krug’s Hypophosphatasia Story (Part 1): A Tale of Misdiagnosis, Strength , and Resiliency

I was born in 1960 in Chicago, IL and they knew something was wrong seconds after my birth; what, they had no idea. My mother (I was her 3rd child) said I looked like a rag doll with no strength at all. I couldn’t even to grasp a finger. I also had larger than normal fontanels. They said I might be a little person due to the disproportional length of my arms and legs compared to the torso. Of course, there wasn’t any prenatal ultrasound back then, so they couldn’t tell I had fractured bones while in the womb. They sent me home and within weeks I developed pneumonia. I failed to grow in the first month. I was sent to Children’s Memorial hospital in Chicago for diagnosis and treatment for the pneumonia. After weeks of blood testing the specialists said they were 90% sure I had hypophosphatasia (HPP) but clinically I presented with blue sclera, the big soft spot on my head, the bowed long bones, and the small pectus barrel chest which could be osteogenesis umperfecta (OI).

Since I had an extremely low ALP and bowed long bones they said it was infantile HPP not OI. By the time the result of the blood tests were in my pneumonia cleared up (I was in an O2 tent for 3 weeks; they didn’t take any full body x-rays that my parents could remember). Before I left the doctors told my parents there was no treatment for HPP; sent me home and told mom and dad to love me every day because I wouldn’t live and if I did make it through infancy I definitely wouldn’t live past 3 yrs old because no infant with HPP every did. If by some amazing chance I made it past 1 yr old I would be mentally disabled and never walk or talk. They told my parents that when I stopped breathing and turned blue to just take me to the nearest hospital to certify the death certificate. On their way out, the doctors said “By the way if she is still living in 3 years we would love to see her for a follow up appointment.”

So, my parents took me home and treated me like a normal baby. Feeding time was bad, mom would feed me formula, but I did not tolerate it very well. She said I would suck down a bottle like every other baby but when I finished, she would walk over to the sink and I would throw it up.  I would eat 2oz and throw up 3 oz. I was not gaining weight, but somehow did keep enough of the formula down to survive.  By 3 months old I had experienced 2 bouts of pneumonia and the family doctor recommended a meat base formula with no milk products in it.  I stopped throwing up right away and started to gain weight slowly. I weighed 6 lbs 2 oz when I was born and at my 1st birthday, I weighed just over 9 lbs 4 oz and wore 8-month clothes that were way too big.  Mom said I was the size of a 6 month old in length but I barely could hold my head up and my legs never kicked or moved very much. However, my hands were always busy. Although I couldn’t move my arms, my hands would play and feel anything my parents put into them.  My muscle tone at a year was that of a 3 month old. I was very flexible but had to be careful not to allow the joints to hyper-extend.

At 6 months old I had my first noticeable femur fractures while taking my afternoon nap. I woke up screaming and wouldn’t stop and she noticed my legs looked displaced. Mom decided to take me to the ER where they splint casted spica with ace bandages (I think now you call it back slab) both legs and sent me home.

While at the ER, they told mom that with HPP comes fractures. She said this was never told to her at Children’s Memorial. At least they hadn’t said I could fracture with little or no trauma.  She knew HPP had soft bones but not brittle. While in the ER they took a whole body x-ray and found I had other fractures in different stages of healing. There were about 5 to 8. It was hard to count all of them because the bones were almost transparent on the x-rays.  They also told my mom the skull x-ray looked normal except there were definite signs of Wormian, or what is called Copper beaten skull. At that time mom had no idea what that was and the ER orthopedic wasn’t that concerned about it since he was looking for signs of hydrocephalus since my head was out of proportion to the rest of my body. She asks why I did not kick my legs like normal babies do and the orthopedic said “the femurs keep breaking just like her ribs.” That when he said I had beaded rib development and a barrel chest with the start of mild pectus.

I continued to fracture and displace all upper and lower long bones at least 1 to 2 times a year. That wasn’t counting the little cracks that didn’t need traction. Mom learned how to splint my limbs and we didn’t go to the ER every time something cracked. Back in the early 60’s the only treatment was weeks of traction (after the age of 18 month) in the hospitals and then a spica cast to straighten the bowed bones. With all the weeks in traction (sometimes up to 10 weeks and another 8 weeks in a spica cast) I would develop pneumonia, so they would just put a spica on and send me home with antibiotics, with the bones still displaced.

1963 to 1965

I was now 3 year old, so mom made appointment with the specialist at Children’s Memorial. Yes, I was still small in stature and growing with bowed arms and legs but able to walk around the house when I didn’t have a broken femur. Even though I turned blue many times according to my mom, I would somehow start breathing again. When I returned to the specialist at Children’s memorial and walked in; they just about dropped dead according to my parents. They said, “what are you feeding this child and what special therapy are you doing to have kept her alive?” Mom said, “nothing special just meat base formula when she was an infant and then I took out 99% of dairy products from her regular diet.” She explained that she thought I was allergic to it.

They couldn’t believe I had 16 broken bones already and that I was able to walk. They said it was unheard of for an infantile HPP to be this brittle and still be alive at 3 years and with a normal IQ (no hydrocephalus or visible cranium stenosis).

1963 was the last time I saw the specialist at Children’s Memorial or anyone else who studied HPP. My parents thought why they should pay money (insurance back then did not pay for specialists) to these doctors if they didn’t know what was going on? My parents told them they made the wrong diagnosis of HPP, and that my new diagnoses was OI with unexplained low ALP.

I had just a family doctor and a local orthopedic take care of me. I continued to spend most of my days in and out of the hospital with fractures. I even had schoolteachers come to the hospital for lessons. I never missed any grades, and I was actually 2 grades ahead for my age. Twice during the age of 3 and 5 yrs old I faced pneumonia. Something stopped my heart but they were able to resuscitate me with drugs. They didn’t dare do CPR for fear of collapsing my chest completely.

1966

In the fall of 1966 I was on my 9th displaced femur fracture (total broken bones including finger, toes, wrist, ribs arms compression fractures of the vertebrae = 28). The orthopedic started to question the diagnosis of HPP and said ask my mom if she would mind if he did some extra testing while I was in traction. He also wanted to test the entire family.

They drew blood twice a day for a week and took lots of x-rays. 5 weeks later they called my mother into another room when she came to visit me and said they had some findings to share. They told her I didn’t have HPP but I had OI with unexplained extreme low ALP. They were 100% sure because they had found no published information that any HPP child fractured this much and because I could breathe on my own. They proceeded to tell her about OI and how I was still going to have brittle bones. My ortho said they sent my test result and some of my blood to 2 other medical facilities outside the state. They all agreed I didn’t present with enough clinical proof to have infantile HPP. It must be OI.

The only thing the blood test showed was that the ALP was exceptionally low (15 was my ALP at 6 yrs old). My mom remembers because hers was 24 and dads was 26 and my sisters was 25. My brother’s were normal at around 120. They checked everyone’s B vitamins and only B6 was high (in mom, dad, sister and me) and calcium was normal in everyone but me and that was in a high normal range. Also, I had brown stained, transparent looking teeth (Dentinogenesis Imperfecta). You could wiggle all of them. I did not have any abnormal early teeth loss with my baby teeth. But my teeth showed large pulp and shallow roots into the bones. The teeth also showed abnormal wear and chipping with ridges on them.

So the only diagnosis that made sense was OI because of the continuing broken bones and normal to mildly slow healing rate. I never had a non-union, the flexible joints, my barrel chest, extremely small lungs, and other bone deformities which all pointed to OI. Since in 1965 there was no medical treatment for either condition there was nothing to do but fix the breaks when they would happen like we had been doing. My parents and I just thought we had a new name for what I had and went on with life.

Stay tuned for part 2 of Sue Krung’s Story!

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