Patient of the Month- Nikki W.
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Hi! I am Nikki. I am from the Greater Pittsburgh area, and I have hypophosphatasia (HPP). From a young age, I always knew there was something different about me. I was very small and had a hard time keeping up with the other children my age. I had bodily features that were different from others, like fingers and toes that were not fully grown. I often grossed out my peers with my hyper-flexibility, such as bending my back the whole way to touch my toes and bending my fingers back to touch the back of my hand.
When I was a child, HPP was not a well-known disease, so being under the growth percentiles was just chalked up to being of small stature. In elementary school, I began losing several teeth all at once. Fast forward to high school, during one of my physicals for school, they discovered I had scoliosis. Once I entered my 20s in college and my early career, I would struggle with recurrent sinus infections, bronchitis, and tonsillitis. I became very fatigued, falling asleep during work, and was diagnosed with narcolepsy. I was diagnosed with Irritable Bowel Syndrome (IBS), and they found that my gall bladder only functioned 25% of the time, leading to GI issues and constant nausea.
During childbearing years, I was diagnosed with polycystic ovarian syndrome (PCOS), and several birth defects were found during tests due to pregnancy complications, such as an arcuate uterus and a heart murmur with tachycardia. I continued to struggle with chronic bronchitis, where they found another birth defect of an azygos lung lobe. Throughout these years, work became more and more difficult. I struggled to keep jobs, and friends/family began thinking I was just a hypochondriac and couldn’t believe I had so many different health conditions.
I decided to only work part-time after having my daughter. At that point, I was able to stabilize my health and work 20 hours a week maximum. However, by age 38, my health took a turn for the worse. I began having 2-3 migraines a week with eyesight loss, major memory issues, lots of joint pain, and neuropathy in my arms and legs. I would have bouts of nearly passing out and dry heaving out of nowhere.
I was practically bed-bound, sleeping most of the day away. I started back to seeing doctors for the issues and went through 2 years of painful tests and several specialists. I saw specialists in neurology, psychiatry, headache medicine, gastroenterology, orthopedics, colorectal surgery, cardiology, optometry, genetics, and endocrinology. White matter lesions were found in my brain, hyperreflexia and hyporeflexia in my joints, nystagmus, and cognitive decline were found. They initially thought I had multiple sclerosis, but the white matter lesions were not in the correct areas.
My doctors also could not explain why I had toxic levels of B6 and abnormal phosphorus levels, but I was not supplementing with B6. The neurologist then gave up on me and said there’s a chance you could have a rare genetic metabolic disease, but did not explain further or make any referrals.
At that point, I did my own research by thoroughly going over all my medical records, and I found a pattern of always having low alkaline phosphatase (ALP). I researched it online for hours and days and eventually found the Soft Bones Facebook Group and started chatting with Sue K. It was this group that guided me on what to do next. I made an appointment with an endocrinologist who initially refused to see me because she had never heard of HPP, but then agreed after I broke down crying in their waiting room. She did the genetic test, and it came out positive.
Finally, at 42 years old, I have a diagnosis that explains all of my symptoms and shows I’m not a hypochondriac. Since then, I was approved for Strensiq® and Social Security Disability. Strensiq® has significantly improved my pain and allowed me to gain weight, but I still struggle with fatigue and bone degeneration, along with gastroparesis, which was causing the bouts of vomiting and nearly passing out.
So far, I’ve attended two National Patient Meetings with the Soft Bones organization and have made some close friends. If it weren’t for Soft Bones’ work, I don’t think I’d be diagnosed today. It’s because of their advocacy work, spreading awareness to medical professionals, that helped me to be diagnosed. Even though I still struggle a lot with fatigue, I make it my life purpose to not let HPP overcome me. I still work once a week as a mental health counselor, where I plan to become specialized in pain management.
I also manage a TikTok and YouTube channel advocating for chronic illness and mental health. What I would like people to understand about HPP is that it can definitely be an invisible illness. Some days I do great and get a lot done, but other days I might be down for the count. I encourage anybody to really listen to their bodies and follow their gut because it’s not all in your head. I also want to take this moment to thank my husband and my mother-in-law from the bottom of my heart for being there and caring for me when I needed it, and also my daughter for giving me the motivation to keep going!
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