Jonah’s Story
Jonah’s Story
June 2008 was a busy month for us. My husband graduated with his MPA and began his career-changing job search, we put our house on the market and Jonah was born. To say our life was busy is an understatement. The day I returned from the hospital, our pediatrician called. Jonah’s newborn screening test was positive and the ped was honest that he didn’t really know the extent of this yet. He had no other patients, and knew of no other patients in the practice, with galactosemia. What he did suspect, though, was that our test was a false positive since the day Jonah was born was miserably hot and the test was heat sensitive; in the past, his patients who tested positive had false negatives. I remember vividly scratching out the very foreign word on a piece of scratch paper I found on the floor. (Our house was a mess; we came home from the hospital in the midst of 2 construction projects!) We were scared. I was still recuperating from an unexpected C-section so my husband went to the store himself to navigate the aisles of bottles and formula while I searched online for more information. I read the complications and symptoms of galactosemia and believed our son’s case was mistaken. He was thriving and alert. No jaundice. We returned to Beth Israel the following morning for another heel stick and to give a urine sample. That was fun with a 6-day-old. The day after that we went to the pediatrician for the routine check-up. Jonah was still doing stellar and had gained all his birthweight back and then some. Our pediatrician was confident this test result would be different. It wasn’t. So over the next three months we made the rounds in Boston. We hit all the big ones: Mass General, Mass Eye and Ear, Children’s, Beth Israel. We became pros at the hospital campus as Jonah was tested for cataracts, early signs of speech problems and gave much blood. Several samples were deemed unfit–they had been sent to Emory from Mass General and didn’t make it in time for the blood to be analyzed. Meanwhile, my sister and niece attended the conference in Chicago. Between the house sale and our doctor’s appointments and flying with a itty bitty, we simply couldn’t travel at that point. They met many great families and Dr. Berry, who said we should bring Jonah to him. Finally we ended up in Dr. Berry’s office at Children’s. They were confident. They were calm. Jonah’s case was different than they’d ever seen: the classic known genetic mutation, and one unknown that the team had never seen before. They knew the mechanics of it, but how would it play out? After a chemical phenotype and other blood types, Jonah has been labeled as a classic galactosemic. But there is something very odd about his levels… Enzyme production: Zero Galactose level: Zero We aren’t sure how Jonah’s body is managing this, but are grateful he is doing well. His new doctor and dietitian at Children’s Chicago recommend a strict diet. No foods on the questionable foods list. In Boston, we were encouraged not to limit fruits and veggies. However, Jonah has been on solids for almost two months and his levels haven’t changed. And, yes, I’ve dipped into that list of limited fruits and veggies. Obviously, if anyone knows of another family whose child has these seemingly conflicting levels, I’d love to hear from them! We are so thankful this group was created–the three of us look forward to meeting all of you!