We're fundraising to further help research and provide resources for those with BBS
Our story began when our son was born with extra pinkies on each of his hands. The midwives and pediatrician assured us that having extra pinkies was relatively common, but whenever Doctors would ask us if extra pinkies (polydactyly) ran in our family, we would say no, and there would be some awkward silence leaving us to wonder, was this a little different? Like any concerned parent we began googling. We learned that although having extra pinkies was relatively common, there were also some genetic syndromes associated with polydactyly and in the case of BBS, there may be issues with internal organs like the kidneys that aren't necessarily obvious in a newborn. We were concerned that his internal organs were affected and we wanted to make sure we did everything right to keep him healthy.
We asked our son's hand surgeon if he could refer us to be tested for the syndromes associated with polydactyly. He said that he would send out an email to our HMO's geneticist. I anxiously awaited the email back only to hear that they typically don't do genetic testing unless there are other signs of a syndrome. We were disappointed, but had recently done '23 and me' and we had a hunch that maybe we could find some affordable testing on our own, outside of our HMO. When our son was 11 months old, we found a service called JScreen that would do affordable genetic screening for adults only (not children) for the purposes of planning a family and we thought maybe it could give us some answers. In a month we got our results back and found out both my husband and I were carriers for BBS1. We weren't carriers for anything else, just BBS1. In the phone call we had with the genetic counselor, we said that we think our son might have this syndrome and we could tell she was a bit shocked because she probably wasn't used to hearing that. We definitely used JScreen in an unconventional way and I think we may have been more prepared for the news than she was, but still, there's nothing that really prepares you for news like that.
After receiving our test results, we were able to take our JScreen results to our son's pediatrician and convince them that he needed genetic testing for BBS1 also. A diagnosis like this always comes with mixed emotions and even though at times I regretted wanting to know so badly, we tried to focus on the positives of having an early diagnosis. Our son had lots of testing done and he was a healthy boy with only some mild excess fluid in his kidneys. Our geneticist went from unwilling to test, to being very helpful in setting up a care team around him. She also asked if she could share our story with the genetics department at the hospital so they could improve their diagnostic practices and we were excited to help in any way we could. We also learned about the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) from our geneticist. We quickly joined so that we could provide information that could be used for research. We also learned that the BBS Foundation helps to fund CRIBBS and has built a great community of parents and individuals with BBS and we love everything this organization is doing, which is why we are raising funds! It's not always easy to get scary news about your child's health, but having others to learn from and share with helps tremendously.
So far, he has received therapies to help him with his speech, motor skills, and learning and we have used research done by CRIBBS to help his doctors and therapists provide better care. Our son is now 6 years old and thriving. He has a big personality and always makes us laugh and has taught us so much. We are truly better people because of him and so happy to be his parents.
