Patient of the Month- Ryan V.
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Ryan’s story as told by his mother.
Ryan’s story doesn’t start with him. It starts with his big sister Gabrielle. When Gabrielle was a baby, she was diagnosed with coronal craniosynostosis. Due to her diagnosis, she had some genetic testing done. All tests came back inconclusive as to what caused her to have craniosynostosis. When she was about 5 years old, I received a call from her geneticist. She informed me that an outside lab had run tests on Gabrielle, which she did not order. That test was for the ALPL gene. Gabrielle had 1 mutation of that gene, but did not show any signs of hypophosphatasia (HPP). She had normal teeth, no fractures, and her lab tests when she was a baby had been normal. Overall, she was a healthy child.
I got pregnant with Ryan in 2020 when Gabrielle was 9 years old. During my anatomy scan with Ryan, they found bowing of his left femur. I got a call from my doctor that night informing me of this information. About 2 weeks later, we were at Johns Hopkins Hospital for a more detailed ultrasound. They found bowing in all of Ryan’s limbs and shortened bones. I had a meeting with a genetic doctor where I shared my daughter’s story. This led to a diagnosis for Ryan!
Due to a history of the ALPL gene mutation in my daughter, it led us to believe that Ryan could have the same mutation. My husband and I both had genetic testing done. Turns out my husband and I both have hypophosphatasia, and Ryan inherited both of our mutations in the ALPL gene. Having this information during my pregnancy, I believe, saved Ryan’s life. His amazing doctors were able to get the medication he needed so that it was ready when he was born!
When Ryan was born, he went straight into the NICU. He was born with a bell-shaped rib cage and bowing in all limbs. His rib cage was too fragile for him to breathe on his own, so he was placed on oxygen. His skull was so soft that a finger touch could put an indentation on his head. When he had an X-ray of his skull, the crown did not appear on the X-ray, nor did any teeth. We were unsure if he had any. Only time would tell.
Ryan spent 5 weeks in the NICU. He started Strensiq the day he was born, and in just 2 weeks, we could start to feel his skull harden. Due to his fragile/bell bell-shaped rib cage, Ryan had a very high respiratory rate, which meant he couldn’t eat on his own. It was too dangerous for him. After a few weeks in the NICU, we decided to get a feeding tube placed. Ryan came home from the NICU on high-flow oxygen, a feeding tube, and a pulse ox monitor. Our home became a NICU, but we were ready for him!
Bringing Ryan home was exciting but very scary for us. Having a newborn baby with a bone disease and not knowing what his future held was worrisome, but we had hope. His doctors were very upfront with us. They explained that his future was unknown. We were unsure if he would be able to walk, if he would ever be able to come off his feeding tube or if his bones would break easily. It was a waiting game.
After several months of being on oxygen, we were able to wean him off! We could tell that his body was getting stronger! He even had some baby teeth popping through!! He had weekly PT and OT for the first year of his life.
His left leg was a little shorter than the right leg due to the bowing. This caused him to develop scoliosis and kyphosis of the spine. But Ryan never let that hold him back. We truly believe that he was the fastest crawler we have ever seen. With everything he was going through, he was the sweetest, happiest baby boy.
When Ryan was 1, he was diagnosed with craniosynostosis. He had developed 2 different types, Sagittal and Lambdoid. He had his surgery in the summer of 2022 and had a 3-day stay in the hospital. His recovery was as smooth as it could be. I don’t think he lets anything hold him down.
With continued OT, Ryan was able to get his feeding tube out when he was 2! It was not an easy process. Teaching a toddler how to eat was very hard. He is now almost 5, and we still have issues with eating certain foods. But he gets all the nutrition he needs by eating, and for that, we are grateful.
Since Ryan was a newborn, he has made a tremendous amount of progress. As he grew, his left leg caught up to the right leg. He no longer has scoliosis or kyphosis! All his baby teeth have grown in, and he has adult teeth! Overall, he is a normal 4-year-old boy who keeps us on our toes. We are very blessed to live so close to one of the top children’s hospitals in the world.
We would want the world to know that HPP doesn’t always look the same. Each patient has their own unique story. Some may not know they have it, while others have serious health issues.
We are so grateful to be a part of the Soft Bones community. It has connected us with other patients and parents. As Ryan’s parents, we have learned so much from our Soft Bones family.
I want to dedicate Ryan’s patient story to 3 amazing doctors who have not only provided exceptional care for him but who truly care for him and my family. These doctors are the reason Ryan is the happy, fun, and loving little boy that he is today! Thank you for caring for our son.
Dr. Julie Hoover-Fong (geneticist)
Dr. Laura Sterni (pulmonologist)
Dr. Robert Yim (pediatrician)
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