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Connor’s mom shares his Story
Hey! My name is Connor Eli and I am 4 years old. I was diagnosed with hypophosphatasia (HPP) a month before my 2nd birthday. Here is a little story about my journey to diagnosis.
My first several months of life were pretty normal besides finding a good formula that my tummy liked (9 formulas later). Around 4 months old is when my mom’s time home with me came to end. She went back to work, and I started daycare. My first month in daycare, I started to develop a terrible noise while breathing that led to an emergency trip in the middle of the night to the ER. It was my first croup episode. This marked the beginning of my constant trips to the ER, doctors offices, and specialists.
My awful breathing noise continued and continued. I would get random respiratory viruses (sometimes 2 at a time) that my parents had never even heard of before. I saw a lung specialist, and he diagnosed me with a nasal drip and asthma. I began steroid breathing treatments, morning and night. It helped some, but the viruses just would keep coming back so the hospital stays/visits were a constant thing. I was seen by a doctor at least once a week. My mom would cry in the ER asking for help and guidance on why I was always so sick. She knew something was not right, but she could not find anyone willing to help her figure it out.
After turning one, my parents started to worry that I was not hitting my milestones, and I began to misbehave/act out. I started behavior, developmental, and occupational therapy. The therapists on my team also agreed that it was not normal and something else had to be going on.
Fast forward to January 8, 2021 when my first tooth fell out. Mom was not settling for the first answer she received from one dentist, which was, “He is a boy. He probably just hit it on something.” After seeking another opinion, we finally received a potential diagnosis/answer. My pediatrician referred us to an endocrinologist. The first words that came out of his mouth were, “Welcome to Endo. You will be with us for the long haul.”
After looking back at my medical history, more blood work, and genetic testing the doctor could finally confirm that I have two mutations for hypophosphatasia. My mom carries the mutation that is typical in childhood onset, and my dad carries the gene more common in adult onset. My parents were terrified of what was to come or what my future looked like but also so happy that everything I went through as a baby/toddler was finally being figured out. Mom was not crazy after all. Life/parenthood was about to be completely different for them – their perfect son being diagnosed with a rare genetic disease that they had never even heard about.
My symptoms that I was having were due to my lungs not being able to work properly because my ribs were not strong enough. So a little cold to someone without HPP, turned into MUCH worse for me. My soft spot also had not closed yet.
My whole entire family started researching and we finally found the Soft Bones community. They started reading stories of survival, kids thriving, growing, being “kinda” normal kids once starting the only treatment for HPP, Strensiq.
My first dose of Strensiq was on July 4, 2021! Within the first week my eating habits, sleep, and behavior were better. My family was shocked. My therapists were dismissing me from their services due to how fast I started to hit milestones and turn my behavior around. Mom realized I was only acting out behavior wise because I had felt miserable since birth. I was so unhappy from being in pain 24/7.
We are now 3 1/2 years into my journey of HPP. I am growing (slowly), learning, going to Pre-K, thriving, and trying my best to be a normal kid. Even though I know my injections are helping me, I have a lot of discoloration on my legs/arms from them. I also have not gained enough courage to tolerate them, so I still fight my parents when it’s time for my injection.
I now even have a little sister that also has HPP that I can support when she gets her injections. We will be able to understand each other better, know how we are feeling or what we are dealing with on the inside.
I am thankful my parents had amazing support to help get through my diagnosis. They are blessed to have the Soft Bones community, our case manager & Alexion. The advice, educational materials, connections with insurance companies, and all around, the endless support.
For any parent/child that is experiencing a potential diagnosis of HPP, just know that you are not alone. My mom always says, “Welcome to an amazing community that you never wanted/expected to be a part of! We are so glad you found us!” She is always here if you need someone to talk to.