Ryan’s Story

We are all told to stay away from “Dr. Google”; however, in the case of our son’s diagnosis of Hypophosphatasia (HPP), we were glad that we did an internet search.

March of 2014, when Ryan was 10 months old, my husband and I put Ryan down for his usual afternoon nap. When Ryan woke up, naturally, I took out my phone to snap a picture of him. “Smile Ryan.” I remember starting to take the picture, and I noticed that one of bottom front teeth was missing.

We went up into his crib to look for blood or signs of any trauma to Ryan’s mouth and we found nothing. We called his pediatrician on-call to ask if there was anything that we could do or what might cause this. The on-call doctor told us to just watch for signs of aspiration as we could not find the tooth. The doctor’s office really did not know what would cause him to lose a tooth at 10 months old. This did not sit well with my husband and I, so onto Google we went. My husband started to search causes of premature tooth loss, and he came up with HPP. We looked at each other, thinking that there was no possible way that our son had this. He was thriving, healthy and had no other symptoms of HPP. We took Ryan into his pediatrician that week and they suggested that we go to see a pediatric dentist.

Onto the dentist we went, and he told us that Ryan’s other teeth look healthy and he could not think of any reason that Ryan might lose teeth at this age. We sat with this for a couple of months until another one of his teeth fell out. At this point, we went back to his pediatrician, who referred us to a geneticist. We waited for 6 weeks in anticipation for an appointment that we would hope to be helpful and give us some answers. At the appointment, we were told that Ryan looked healthy and that the tooth loss was possibly a fluke occurrence. My husband mentioned HPP to the Geneticist, who told us that he was relatively unfamiliar with the disorder due to its rarity. Wanting to either rule HPP in or out, we asked him to do any test that might tell us if this is what our son had. He looked up HPP to find that he could do a simple blood test on Ryan to test his Alkaline Phosphatase. My husband and I immediately agreed to this testing and took Ryan to get the blood work done that day. A couple of weeks went by, and we received a call that Ryan’s ALP level was low, but nothing too concerning. The geneticist referred us to a pediatric endocrinologist who he told us would be able to perform more tests on Ryan. Again, we waited 6 weeks and got into see this new doctor. Once again, we hoped that we would get some helpful answers as to what was going on with our son. During this waiting time, I researched other endocrinologists in the CT area who are familiar with HPP. I found a doctor at Yale New Haven Hospital who is on the scientific research board for HPP. I immediately called and made an appointment for Ryan with this doctor.

Prior to this appointment with these doctors, I had found theSoftbones Facebook group and received a mailing of all the pamphlets to give to providers to help explain HPP. We sat in the doctor’s office of the first endocrinologist with our packet of information, ready to explain to this doctor all about HPP and what further tests she would need to run. Much to our surprise, when she started to talk to us, she mentioned HPP and informed us that she is familiar with this genetic disorder. We were so relieved to hear this, as we had heard that many doctors do not know what HPP is. She sent us for x-rays of Ryan’s little body and skull, explaining the bone abnormalities that HPP can cause. She was so helpful and informative, and my husband and I left this appointment feeling confident that we fell into the hands of a doctor who would be able to really help out our son. We did more blood work to test Ryan’s vitamin B6, calcium and vitamin D, and went for x-rays that same day. Again, we waited for the results. About two weeks went by and we got the news that all of Ryan’s x-rays were normal, showing no bone abnormalities. We were then told that his B6 was high, giving us a pretty confident diagnosis that Ryan did have HPP. This was a lot for our family to process and I can remember my husband and I being heartbroken and devastated. We were very scared for our son and unsure of what the next steps would be for him and our family. His doctor told us that she would like to see us back in 4 months for a check-up visit to perform more blood work and check up on him.

In the meantime, as we waited for this next appointment with her, we took Ryan to Yale New Haven to meet with the doctor on the HPP scientific research board. Our meeting with him went well, and he stated that Ryan appeared to have the “odonto” form of HPP, based on his blood work, x-rays, and presenting symptoms but that it was still technically a bit too early to definitively state a diagnosis. He told us that typically when patients Ryan’s age present with only the tooth form, it likely stays this way. He told us that the endocrinologist with whom we were working had studied under him and was a good resource for HPP. At this appointment, we decided that we would not need to go back to Yale and felt confident with our endocrinologist.

In the midst of these appointments with these two endocrinologists, the geneticist ran the genetic test on Ryan to confirm a diagnosis. We received these results in October, confirming that Ryan does have HPP, a heterozygous mutation. The confirmation of this diagnosis has been scary and a lot for our family to process. At Ryan’s most recent appointment in December with his endocrinologist, we were told that he continues to grow and continues to be healthy. His calcium and vitamin D are in perfect range and his Alkaline phosphatase is staying where it has been since the last two tests, around low 100’s. We have to go back in 6 months for another check up with her to continue to track his health and progress. We also have just found out that I am the carrier for Ryan’s mutation and my husband is now being tested to see if there are any hidden HPP mutations in him. This will then determine what the future will hold for expanding our family.

Throughout this whole process, the medical community has been wonderful. We have learned that as parents, we have to be the best and strongest advocate for our children. We have learned that doctors are willing to listen and acknowledge when they do not have all of the answers. The endocrinologist who is treating Ryan has been absolutely amazing, responding to all of my questions about HPP via email (and believe me, there are many). She has reached out to Dr. Whyte for us and has been able to calm our minds about what the future holds for Ryan. I, personally, have found friendships through the Softbones organizations, as I talk to other parents and patients about their journey with HPP. It is a scary journey, but one that my husband and I have accepted and are ready to face. Ryan continues to be a crazy and active toddler who makes us smile and laugh every day.