Sue Krug’s Hypophosphatasia Story (Part 3): A Tale of Misdiagnosis, Strength, and Resiliency

2004

The pain in my right hip had periods of being intense. When the hip became unstable, I decided to visit my ortho. He took one look at it and said it’s a protrusion hip and you need to have the hip replaced immediately or it will wear through the pelvis.

He said there was a new ortho starting at Tucson Orthopedic that had some training in rodding osteogenesis imperfecta (OI) bones. So I had an appointment the next day with him (Dr. Brian Nielsen). We decided that a total hip replacement was needed. The x-ray and CT showed there was barely any socket left and little bone separating the ball from the abdominal cavity.  So, I had the surgical procedure. Since the socket was gone and there was no stable bone to place a replacement cup, they also had to remove 2 rush rods and a 1 plate from the femur.

The hip with a long stem was put in to support the femur and they did 3 osteotomies to correct the new twist (the twist was described like wringing out a wet cloth) that was in addition the normal bowing that happens in my bones do to osteomalacia. They also corrected some of the muscles groups by tightening them as I have severe hypotonia in the hip area.

Recovery was tough the first 2 weeks but by the 4th week I was walking with crutches. By 6 weeks I was walking around Frys (my local grocery store) just fine. By no means was the femur healed but everything was well supported by the long stem and I started using it to stimulate bone healing. We also used a bone healer on the leg each day.

2005 to 2006

From 2005 to 2006 it was decided that the deformity that always happened with my long bones was at it again and I needed most of the other lower long bones re-rodded. That included removal of old hardware and at least 2 osteotomies on my left femur and both tibias. In this period of time from 2004 to 2007 my scoliosis was increasing again. I was gaining at least 2 degrees every 6 months and I now had 4 curves in the spine. Now that the legs were stable, and I was back up and walking with crutches I started having arm numbness and buzzing down both hands. This went on for about 6 months. I was seeing a neuro/ortho spine doctor and he was monitoring it closely. I had a MRI about every 2 months of the cervical and thoracic areas. Then I started to drop things and wouldn’t know that I dropped the item until it hit the floor (my hands had lost feeling). At this point I noticed I could no longer do my art classes or work on the computer without the aid of one of my hands holding my head up.  The kyphosis of the cervical area was progressing to the point my head was looking down all the time. Dr. Jeong said it was time to do something immediately. The MRI showed little CF (cervical fluid could pass as the vertebra were collapsing under the weight of my head).

It was decided that just rods and a normal decompress fusion would not support the head enough, so a plate was needed in the front of the spine. Anterior cervical discectomy and fusion (ACDF) and posterior cervical laminectomy with rods and 16 screws with a porcelain spacer to separate the vertebra, rods and plate were ordered. The fusion was to be from C1 to C8 but there were complications and C1 was fused to a bone spur attaching to the axis and the axis was so malformed it was decided not to touch it. C7 and C8 were also fused looking like DISH but none of this showed up in the MRI. The doctor said the bone deformity was invisible on x-rays and MRIs. He found there was enough room for the nerve root to pass through, so the laminate was not removed. I had a 4-level fusion using my own bone from the Laminectomy as the graft. At the same time as the decompress it was found that the hole where the spinal cord met the brain stem was very irregular and narrow. They decided to grind away some of the bone to make it slightly larger to allow the CF to flow easily.

It took about 10 months of wearing a Miami J collar before the fusion was healed enough that I could sleep and be in the house without using it. I still wear the collar today while driving in a car or when I’m on a plane. Partial fusion took 2 years. But enough fusion did happen and surprisingly all of the hardware was well anchored. But the scoliosis is still progressing along with the compression fractures that can happen if I cough too hard.

2008

My right new hip was starting to wear some of the bone in the cup and the hip flexor had become loose again, so the leg was turning out like a duck. The only way to keep me walking was to do an osteotomy of the tibia in the distal portion and rotate it 20 degrees inward while it was on the rod. This fracture was stabilized with a plate and BMP. While healing (2 weeks post op) the fibula spontaneously cracked just below the mid shaft with no trauma or putting any weight on it. It was still in a cast when the fibula fractured. This also caused a dislocation fracture just below the new plate in the tibia. I had to go back to surgery where he placed another plate in the fibula to stabilize and reduce the displacement.

This ended my replacement surgeries of all the old hardware, with my osteomalacia, rod, and alignment. Each rod has never lasted more than 4 years and I would have to go and have them all redone to prevent major long bones from breaking in multiple pieces as they would bow off the rods due to just gravity, not stress.

2009

I continued to have the diagnosis of OI with unexplained low ALP until 2009 when my primary care doc said “I want you to see and an endocrinologist.” He said my ALP was down to less than 5 which is very low. He said that he couldn’t even say I had any ALP in my body. My ALP had been around 10 when I moved to AZ. I said, “I have been down this path so many times you got to be kidding!” I said,

“Do you think these new lower results are just very low because for the past 5 yrs I had surgeries to replace all my old hardware (4 new re-rodding of the long bones in the legs) and I needed cervical neck fusion with hardware (front plate 8 screws and 2 rods in the back), and from all the micro fractures and compression fractures in my vertebra causing kyphosis and spinal cord compression?”

I also had gone through 1 total hip replacement with long stem in my right hip due to protrusion. My doctor said the endocrinologist would order tests to finally figure this out. Besides, he would like to know why all my B vitamins test high and my calcium was low to low normal and every other organ test was normal. That, he said, does not make sense.

Since both hypophosphatasia (HPP) and OI are so rare, hardly any doctors fully know the story about either metabolic disease. I saw Dr. David Alster in October of 2009 and every two weeks he asked for more blood because each group of tests he did came back with mixed results.

50% leaned towards HPP, the other 50% leaned to OI. None were conclusive to point out either diagnosis. In November of 2009 he said yes, I have very low Tissue Non-Specific ALP and my B6 was high, but my calcium levels were normal and that just shouldn’t be if I had OI. He said he couldn’t find a lab in the USA that ran tests for phosphoethanolamine (PEA) so he couldn’t say 100% I had HPP over OI yet. So, the only other thing to do was to rule out OI with a blood DNA test.

2010

In January 2010, I got a call that my OI DNA test came back. It stated they were 95% sure I didn’t have the common gene for type 1, 2, 3 or 4 and they didn’t have any data on the newer types.

In November 2010, Dr. Alster (my Endo in AZ) sent 7 tubes of blood to St Louis Shriner for Analysis and DNA testing. We got the results back finally via email that stated I had two genes; gene one is perinatal (which was rare and never seen in a live birth) and one for infantile HPP.

2013

By November of 2013 I had experienced 90+ fractures, (not counting ribs, fingers and toes/foot), 29 Roding surgeries, 1 hip replacement, 4 level cervical fusion, 4 curve scoliosis, and too many compression fractures of the vertebra to keep track of (small collapsing of the bone part of the vertebra), and a full set of dentures (I had no teeth left).

2014

By March of 2014 I had 95+ fractures including 1 shoulder & humerus, and 2 elbows. I had a cracked my foot and ankle and left hip. In June I had a humerus spiral fracture and was put in a clam brace in hopes it would heal. In October of 2014 I had surgery to rod my left humerus as it hadn’t healed and there was another crack. In December, 7 weeks post op, an x-ray instead of showing healing showed a new and huge fracture in the upper part of the left humerus caused either by the surgery or post-surgery (due to severe muscle spasms). The surgery in October found that the rotator cuff was also damaged and the capsule had to be fixed also.

2015

The new fracture put healing back another 4 weeks so as of December 27, 2015 I was wheelchair bound for 8 weeks with the prospect of another 6 weeks before I could possibly be allowed to put weight on my left arm. My arm was completely healed by March of 2015.

In June of 2015 my right humerus fractured while on a flight home. All I did was have my arm by my side and the arm rest pressed into it as the plane was banking. It wasn’t a major fracture thankfully. It was a spider hairline fracture. I had x-rays and a clamshell brace was used to support it until it healed.

Total fractures as of August 2015 were 100 +. I had a few minor toes and wrist and rib fractures as well.

On November 5, 2015 I started Asfontase Alfa Strensiq.

2016

September 26, 2016, I had to have the right tibia hardware removal-deep buried plate and 6 screws and right patella quadriceps advancement with reconstruction of medial patellofemoral ligament for a dislocated patella with open lateral release of my right knee.

2017

By 2017, since being on treatment, I could now be back on my crutches and was spending less time in the wheelchair. Plus I was strong enough to do the 6-minute walk test with the crutches (which I could have never done before Strensiq). I was also off nighttime 02  and did not need my inhaler during the day. Stamina and strength increased 3-fold.

2019

October 15, 2019 I had a minor fracture in 4th proximal phalanges and the metacarpal in my left hand, and my 3rd & 4th metatarsal bones in my left foot broke and I had a crack in my 4th proximal phalanges and middle phalanges. I did this by accidently hitting my hand on the corner of the marble countertop.

2020 to 2021

In 2020 I had no fractures.

In 2021 I had a small hairline in my wrist. No major long bone fractures have happened this year and I’m gardening again. I’m even lifting 10 gallon pots and digging holes. My life is back to a good normal. I still have days when pain is very strong. On those days I make sure I do a lot of modified yoga stretching to ease the pain and I crochet or do pastel drawing instead of gardening.

Having a rare disease impacts the normalcy of your life without a doubt.  You have bad days and good days, but both kinds of days make you who you are. You don’t have to let your rare disease stop you from dreaming and achieving even the smallest of goals each day.
All ways look forward! You never know what the future might bring. After waiting 55 years, researchers finally found a treatment. It’s not a cure, but it’s a future.

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