Robert’s Road to Recovery

Suspicions & Diagnosis

Mark, my husband was worried about Robert’s back and thought I should take Robert to his orthopedic surgeon, Dr. Kanel, for follow-up x-rays. Robert was going to physical therapy three times a week, speech therapy once a week and was in a special education pre-school for the hearing impaired.

The x-rays showed that the vertebras above L1 and L2 were degrading. Instead of being the normal shape they looked like spoons. We saw a few orthopedic surgeons who felt it was a mechanical issue, that the ligaments were pulling forward and putting too much pressure on the vertebras. We put him in a brace.

We started suspecting that his problems were not related to birth defects after his third trigger finger showed up. After birth he has had three trigger fingers and one trigger thumb. Another unusual event is that Robert is very allergic to plastic tape. He gets terrible yeast infections. It took us three years to figure out that is why he was having so many yeast infections in his ears. All the antibiotics probably didn’t help. We finally got silicon molds, which made all the difference in the world. What a great material. Robert also has three or four swirls in his hair, a herniated belly button and an extended stomach.

My pediatrician wanted us to get another opinion at Shriner’s Hospital, but I decided if we were going to see genetics doctors I rather go back to Cedar Sinai in LA. We had gone once before and they write wonderful reports.

Diagnosis

We went to Cedar Sinai on January 2nd. They could not see any specific syndrome in their analysis. Stephanie Wallace was the resident and Dr. Rimoine was the doctor. We went home pleased that we had accomplished that visit without a syndrome diagnosed. They did say they would plug their findings into their Possum database.

One week later, Stephanie called and said their analysis pointed to Alpha Mannosidosis and that we should get a urine test as soon as possible. Stephanie gave me the name of the web-site and I went to it right away. I knew Robert had the syndrome once I read about the symptoms and looked at the pictures. We had two urine tests that came back positive (total waste of time). If I could do it over again I would have gone straight to the blood test. No matter what the urine test says a blood test is the only real way to confirm the results. For best results, you or your pediatrician should call Dr. David Wenger to understand how the prescription should be written (215-955-4923).