We all have different stories to tell about our child’s path to a diagnosis, whether it be for MPS or another condition. For rare diseases, often that path is long and fraught with mis-diagnoses or parents being told they’re just imagining things or that all children develop differently.
There are many efforts to educate physicians, therapists, and the general public on rare diseases so that these diagnoses can come sooner and offer more effective treatment potential. Specifically for Hunter Syndrome, ENTs or otolaryngologists are a key potential audience for awareness efforts since so many of these boys have either hearing loss, recurrent ear infections, enlarged tonsils and adenoids, or all of the above such that the first specialist often seen is an ENT, sometimes within a few months of life. If these specialists can be trained in the subtleties of Hunter Syndrome, there is a much greater potential for early diagnosis, at least until we have newborn screening.
Below is a new video that speaks to ENTs and their value in early diagnosis of Hunter Syndrome. But first, be sure to read these stories from parents about how ENTs played a poor or valuable role in their child’s diagnosis. Please add your story in the comments!
Our experience: Case saw two ENTs, one community based and one at Vanderbilt Children’s Hospital in the year before he was diagnosed. He had his adenoids removed and tubes placed at approximately 21 months old. Neither ENT diagnosed him or suggested a syndrome-related diagnosis. (If you don’t know Case’s story, my mom diagnosed Case after seeing an episode of Mystery Diagnosis about a boy with Hunter Syndrome.) When asked after diagnosis why he did not suspect Hunter Syndrome after several visits and surgery, the hospital-based ENT relayed that although he had other MPS patients, Case’s physical features were very mild, so he did not suspect a form of MPS.
Had tonsils/adenoids out and ear tubes separately as a kid as well as speech K through 1st grade and no one recognized the disorder either. Waay to many drs who just don’t know. I cheer any time any health care provider shows interest in learning! – MPS I Sheie patient
My son’s ENT refused to listen to my worries; instead he kept insisting grommets would work this time… 5 times altogether. My son was almost 6 years old when we finally got a diagnosis. When I went back to the ENT, he shrugged his shoulders. I simply told him he should have known something else was going on and I’ve always said that and I stand by it. – MPS II parent
It was an ENT who first suspected my son had MPS. However, his suspicions were ignored by my son’s primary care physician (I had no idea the ENT had suspicions as he used direct contact with the primary care physician). It was a year later until a diagnosis. – MPS II parent
We got lucky. Our ENT is the one who caught it when my son was 2.5 years old. Pediatrician never would have figured it out. But, the ENT saw my son two or three times and only “caught it” when my son was under anesthesia for adenoid surgery. It was actually the anesthesiologist who alerted everyone. – MPS II parent
Our ENT missed after two sets of tubes and plan to remove tonsils and adenoids. Pediatrician, a seasoned older doctor on the board on our children’s hospital, missed also, never would have figured it out. We owe it to a discerning occupational therapist who urged us to see a developmental pediatrician. – MPS II parent
Our ENT was the only one looking for answers for us. She met my son when he was only a few months old and we were in for an appointment for my daughter and asked about his noisy breathing. By 4 months, we were in to consult about tubes, which were placed at 5 months. When the constant runny nose started shortly after that, she sent us to Immunology and GI, which eventually lead to a referral to Neurology and a diagnosis. At that point, our pediatrician was still telling us everything was fine. – MPS II parent
ENT was our lifesaver. Diagnosed our son at 15 months! – MPS II parent