Living with HPP: Pennie

I would guess my HPP journey must have started over 10 years ago, when I began having issues with multiple things. I started with what I thought was arthritis and the doctor prescribed Vioxx. I remember how much better I felt while taking that, till they removed it from the market. Then the headache on my left temple began, I was taking Advil cold and sinus like candy. I saw an ENT at the time and he decided to do a sinus surgery (deviated septum, supposedly) but he felt that there was an underlying issue with allergies. So next came the allergist, who said I had no allergies. Headache on my left temple every day. Started having stomach issues, specifically GERD and IBS, put on Omeprozole. In 2016 my GP did some blood work trying to find out if I had arthritis, I did not, my calcium was elevated, but he never told me my ALP was low. Put on Celecoxib.

In 2017 I broke my shoulder in a fall, my OB wanted to do a bone density after the fall and I declined, stating I was only 52 and that my break was not caused by bad bones. Fast forward to 2018 still having issues headaches, stomach issues and joint issues, OB says again, you need a Bone Density, I relent. After the scan I stand up and the lady says, you have severe osteoporosis and I need you to get blood work done immediately. I got the blood work back and it showed low ALP but it also showed low parathyroid hormone, which is what caught the attention of the osteo doctor in my OB practice. He referred me to a Bone Specialist at Washington University, who by chance, was familiar with HPP. She stated that her worry was the low ALP as this could be a rare disease. So more blood work (only blood work) once a month for three months. ALP was always low. She sent me to Dr. Whyte for genetic testing (under the table, research based, would not show up in my medical report). Four months later, January 2019, she finally called and said, “yep you have it. We will start you on Forteo. I will see you in two months.”

She gave me enough time to do my own research. Thanks to Soft Bones and the ladies and gentlemen on Facebook, I learned a lot about this disease. I was prepared for my appointment. Not really prepared for her response though. Her first thing was you are just a carrier, you cannot blame all of your symptoms on HPP, I do not know your genetic mutation I didn’t write it down (yet she just informed me she presented my case at a conference), you need to quit reading and talking to people on the internet and just start Forteo it will help your bones, I will see you in 6 months. (Oh and my favorite line was it has shown to cause cancer in rats….good thing you are not a rat).

I tried the Forteo, but in the meantime decided to get a second opinion. I chose Dr. Dahir in Nashville. Forteo was awful, I made it 11 days, I did not sleep because my heart was racing so fast, I felt awful, I called the physician at Wash U who prescribed it, I have still not heard back from her (months later).

Dr. Dahir did more testing on me in one day than Washington University did in a year. My advice to anyone else, find someone who knows about HPP, not someone who dabbles. I have been officially diagnosed with HPP, by Dr. Dahir. While waiting for all of the results she has put me on Tymlos, I tolerated it much better than Forteo, till the last week, I have had some bones hurting and burning. I will see Dr. Dahir in July and am hoping to get on Strensiq™. Anything that will take away the headache that I suffer every day, I am willing to try.

I actually felt relief when I was finally diagnosed. All of these years of not knowing what was wrong and not getting answers. I actually cried. I know that what I have is not going to be easy, but at least I know what I am facing.

I am a 54 year old female from Troy IL which is right outside of St. Louis. I love me some St. Louis Blues and am still overjoyed that we won the Stanley Cup. I am also an avid reader. I have been married for 30 years and have 3 children (Dr. Dahir is reaching out to Alexion to get them tested) I know that I got the gene from my father and he got it from his father. Now I am just working through all of the aunts and cousins that could be afflicted.

My advice to someone who is newly diagnosed is to keep researching and be your own advocate, if you do not like the answer find someone else. Do not give up, reach out to Alexion and get answers from them. The people on Facebook are amazing, ask any question, they will help you. Some are smarter than the doctors.

My hope is that a cure is on the horizon or at least more research into drugs for adults that are diagnosed later in life. Although I had issues as a child, and my genetic mutation is infantile, I will probably still have to jump through hoops to get the drug that may help me live a somewhat more normal existence.

My goal is to continue to advocate for myself and others. I tell everyone I know about this disease especially every doctor I see. My GP has been so attentive, now that my diagnosis is confirmed and said, I have other patients with low ALP, I told him to contact Alexion, but they needed further testing, even if they are showing no symptoms. I call that one of my successes. I am totally at the beginning of this journey and my symptoms are on the mild side compared to others, I am grateful for everything I have in my life, HPP will not define me.


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