My name is Kristena and I am one of a 4 generation family that has HPP. I can say for myself this journey has been one crazy ride. And it all started with my granddaughter.
She is the engine and driving force behind our trip.
My granddaughter was about 1 when we first saw she was losing her teeth. The first came out by itself, and the second had to be removed by a dentist. As time went long we found more loosening and she was taken to a Pediatric dentist. He was familiar with HPP and suggested we see her regular pediatrician and asked if they could talk. The two doctors talked and that’s when the testing started. Just like many, the diagnoses was completed with a DNA test, and a huge amount of more questions.
While we were waiting and before we even knew that HPP was what the doctor was actually looking at, I found HPP googling and remember thinking, this fits, but upon researching I thought my there are several things I can relate with. Scared and anxious, patience isn’t our strong suit. When the diagnosis came in, my daughter started looking for a way to help. Like many people, when you find something wrong you want to help. My daughter set out and found a trial. Upon called many hospitals and trying to see what we needed to do to help, we first landed with Dr. Whyte at the Shriner’s Children’s Hospital in St. Louis. She ended up spending a week in the hospital with my granddaughter, my mother and I went to be support for her while staying in a hotel. First they tested my daughter, and I so remember receiving her call telling me she was positive, and that they wanted to test my mom and myself. Just like anyone else, it was another punch in the gut. After we went in to be tested, I so remember sitting with my mom, my daughter, my granddaughter in front of about 15 research doctors hearing how they were so intrigued to see 4 generations of people with HPP. Completely overwhelmed, that is the best way I describe my feelings. When we came home, we talked to the rest of the family about what we found out. Due to our findings being attached to my granddaughter’s records, there was no official diagnosis immediately put into our records.
Focusing on the baby, it took me 10 months to realize that I needed to make sure the doctors had all the information to help me when I had to go to the doctor. This was a luxury I know many don’t have; you deciding when you want to offer up the information about having HPP. Upon talking to my PCP doctor, he sent me to an endocrinologist in Memphis, that the first thing she said to me was ” You don’t have this”. I tell you, that immediately angered me but I maintained control, “ok, tell me why you think I don’t have this, and these doctors think I do” I always take my paperwork with me to back up my story.
I had researched enough to be able to speak about HPP, and the endo was googling while I spoke, she came to the conclusion that Dr Whyte knew more than she did. And agreed that they were right. It was at that moment that I decided that I needed to advocate for myself. I was 47 years old, and all my life I believed doctors knew everything, they were the experts, but they don’t know it all. Not that that is bad, it is the truth and you have to advocate for yourself. I can do this, I have done a lot of different things in my life, I was in the Marine Corps Reserves, I completed boot camp and up until now I thought that was the most mentally challenging thing I would do in my life, or raising 3 children very close in age, but no, it was all a prelude to handling this.
My daughter was searching to get my granddaughter help, and Dr. Simmons at Vanderbilt University was the perfect fit. Dr. Simmons put us in contact with Dr. Dahir. We spoke several time and it finally came down that my granddaughter and I were going to Vanderbilt on Monday Oct 26,2015 to start a trial of StrensiqTM, only to our surprise the FDA approved it Friday Oct 23rd. Excitement, anxiety and confusion was all put to rest when were both prescribed StrensiqTM and approved by insurance that next month. I felt like as I am getting help for myself, more importantly my granddaughter was getting help, and I would like to think that with us both receiving shots it helped her at the same time, she was 3.
Upon starting StrensiqTM, my husband and I encouraged our sons to also to get tested. Both boys have HPP, while DNA results show my youngest son as not having it identical to the rest of us. My uncle as well as his son, have decided to check and low and behold, they have HPP too. We do have others in our family that took the time to be checked. My mom’s sister as well as her daughter went to make sure they were tested but they found they don’t have HPP.
My family makes up of 8 confirmed people affected, 4 generations but each and every one of us are different. We are 4 generations that always thought if there is anything we can do to help, we would not only be helping others but my granddaughter was is our driving force. So my son and my mother did their part and were involved with the dosage trial for adults. Since doing this trial, we all try and get involved as far as participating in trials, surveys and anything that might help with researching hypophosphatasia. I was actually very excited to get to participate in Lobby Days for the Rare Disease Legislative Advocacy group in the summer of 2018. I met with a Senator Alexander’s Aide and a Congressman’s Kustoff’s Aide. That led to getting to meet with a Deputy Director with Health Policies from Washington DC.
If you happen to be newly diagnosed do yourself a favor, research and learn what is going on with your body. You are your best advocate, seek out support of others who have journeyed before you and try and find a positive. It is hard and definitely not what we all wanted but I can honestly say I believe there is a reason for everything, sometime we just have to look hard. Thank you for your time, I enjoyed bringing you on my journey.