Patient of the Month- Janni K.

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My name is Janni, AKA Granny Janni, and I have seven beautiful grandchildren. I am very humbled to be chosen as Patient of the Month.

I first heard of HPP in 2016 when I was 64 years old after my 2-year-old granddaughter lost her bottom two front teeth (roots and all). We all thought it was strange as in 1982 when my son (her father) was 2 years old, he lost his two bottom front teeth (roots and all). We had taken him to a dentist and he took x-rays. We were told his permanent teeth were there on the x-ray, so it must be a fluke from him repeatedly hitting his chin on things. K

When my granddaughter went to the dentist he didn’t do any x-rays at all. They recommended she be seen by her pediatrician to get tested for HPP. I am a Registered Nurse and I had NEVER heard of this condition!

Because my son and granddaughter had the same history, they were genetically tested. It turns out both had the ALPL gene mutation. 

Looking back at MY mysterious medical history, it looked like I may have the same gene mutation also, but my insurance would not cover genetic testing.

My medical history included the following:

  • At age 5, I had 13 cavities and my sister who had the same diet as me, had zero cavities.
  • I always had pain when running & was diagnosed as having Osgood-Schlatter disease at age 12 years.
  • Broken ribs from coughing.
  • Multiple stress fractures in my feet just from walking.
  • Broken toe which resulted in Complex Regional Pain Syndrome for many months.
  • Loss of five permanent teeth that broke off while I was flossing.
  • Degenerative disc disease in my entire spin.
  • Mild scoliosis in my thoracic spine.

I was accused of being in an abusive relationship because I had a painful lump in my wrist that was diagnosed as a “healing fracture”. I told the doctor that the ONLY thing that could have happened was maybe a child had kicked me while I was giving them a shot as a pediatric nurse. The radiologist pointed his finger in my face and said “NO child did this to you!” The lump was on the outer aspect of my wrist, which would be the area on my body to be injured IF I were deflecting a blow coming at me. I assured the radiologist that my husband was NOT an abuser. After casting my wrist, my little finger went numb so after reassessing my “broken wrist”, it was determined I needed to have this mass surgically removed. It turned out to be a deposit of calcium ON the bone instead of IN the bone. Not one of the doctors had an explanation as to why I had this.

Over the years, I went through many X-rays, MRIs, CT scans, PT, spinal injections, and various pain medications that never REALLY helped take the pain away. When looking at my scans, everything was “diagnosed” as “inconclusive”.

When researching HPP, we found out that people with HPP tend to have high levels of B6. I have to give my primary care physician (PCP) a pat on the back as she ordered a B6 level & my level came back much higher than normal. Along with those results and the fact that my ALP levels were always low, she gave me a diagnosis of Probable HPP. She has been a great support for me and she LISTENS to me!

In 2020, my son and daughter-in-law found an endocrinologist in Nashville at Vanderbilt. I went to watch my granddaughter (COVID restrictions), while my son had his appointment. After discussing my family history, the doctor said she would like to see me. She added me to her study and I was found to have the ALPL gene mutation. I am now her patient. Since I had symptoms before age 18 years old, I qualified for Strensiq.

I like to do things when and how I want them done ….my way or the highway….so it is difficult for me to ask for help. I realize now that it is okay to ask for grocery bags to be on the lighter side. I ask my husband for help lifting heavy items. Instead of standing in the kitchen for six hours cooking and preparing food for the freezer, I try to do it in stages and take multiple breaks. I also know if I do overdo things, I pay the price with pain for days after.

My husband is and always has been very supportive. Every night when we say Grace, he always ends it with “Please help Janni, our son, granddaughter and all those with HPP live a better pain-free life”. We both say AMEN to that!

Soft  has helped me educate myself and others about HPP. I have been able to connect with other patients and learn from the educational material they provide. I was SO excited to learn about the Soft Bones merchandise website. As you can see in some of my pictures, I am wearing HPP clothing. I wear it proudly (especially when going to doctor appointments). I am sure to point out what I am wearing… AND, at age 71 years old, I got my only TATTOO. It is the Soft Bones purple hippo design made by using the letters HPP. It also serves as a conversation starter when I explain what it stands for and what HPP is. 

The “Soft Bones… Finding a Key to HPP” slogan helps me realize that I am not alone. It also gives me hope that someday even more advances will be made in the research of HPP. 

When I think of the future, I am hopeful for advancement in HPP research to help make HPP more manageable for future generations.

For now, sharing my story is my way of giving back and offering my support to others facing this complex disease. 

Here I was, struggling my entire life, only to get a diagnosis of HPP at age 68 years old. I now had an explanation for the many mysterious symptoms that I have now and had in the past.

But at the same time, I was devastated. I immediately had the “Mommy Guilt” because I had passed HPP on to my son and granddaughter. 

I knew my feelings were “irrational” but that didn’t stop me from experiencing those feelings. 

I have two other children who did genetic testing and thankfully for them AND their children, they do not have HPP.

I have been on Strensiq for two years. Since starting the medication I have not experienced any fractures. 

I thank GOD for that every day. 

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