Our Story

Joseph was born on March 29, 2012 (only one week late) at a mere 9lbs and 19inches long. He was having some trouble eating and experiencing weight loss, but we were sent home with a clean bill of health. At home Joseph was still having trouble eating; he did not want breast milk or formula and would arch his back during and after feedings. He slept a lot (lethargic), but what newborn doesn’t? We had a doctor’s appointment the day after we got home as a result of his weight loss. Joseph had still not gained enough weight so we were scheduled for another appointment a few days later.

At just five days old we received a call from his doctor saying we were scheduled to meet with the genetic doctor at Albany Medical Center, because Joseph’s newborn screening had come back abnormal. We were told he might have galactosemia, but not to look it up, just wait for our appointment.

When we arrived at the appointment we were given an overview of galactosemia. Joseph had to have blood drawn to confirm that he did have galactosemia, and check his levels. They also switched Joseph from regular formula to soy formula immediately. We brought our son back home and just hoped for the best as we waited for the results.

Two days later Joseph was one week old and had one more doctor’s appointment. Joseph’s doctor told us some things to look out for (a fever over 100.2 and go straight to the emergency room), but overall just continue with the soy and play the waiting game.

That night Joseph had been fussy, and the soy formula constipating him only added to his discomfort. In the morning we gave him his bottle and he felt warm, we checked his temperature and it was 102, we rushed straight to Albany Med. Aside from the fever Joseph looked like a healthy, normal one week old. At such a young age, with only the fever as an indicator, a spinal tap is the standard precaution. We were asked to leave the room while they performed the procedure. After what seemed like forever we were finally back in the room with our son. We waited for a bit longer as the lab processed the sample. The doctor who performed the procedure informed us that Joseph had meningitis.

From being on breast milk and formula for the first five days of his life, Joseph’s galactose levels were elevated which likely resulted in a build up of bacteria in his intestinal tract causing an infection. The infection then traveled into his spinal column and resulted in meningitis. He was put on a number of strong antibiotics; until the exact strain was found to determine which antibiotic he should be on. There were a number of possible side effects from the antibiotics that we had to sign off on; the side effects were far better than the alternative. We were in the hospital for about a week before we went home.

This was one of the worst weeks of my life.  We went from the E.R. to one of the sections on the children’s floor. We met with the infectious disease doctors and they educated us on what effects meningitis can potentially lead to. A few hours later, we were moved to another section of the children’s floor where Joseph could be more closely monitored. A few hours later Joseph was moved to the Pediatric Intensive Care Unit. This is where we stayed for about 4 days before going back to the second section of the children’s floor. We spent our first Easter in the PICU.

During our stay, Jojo had x-rays, blood draws, sedation, a PICC line, and one last spinal tap. I also had some training on how to administer antibiotics through the PICC line. Finally, we were cleared to go home, and he would have another month of antibiotics through his PICC line.

Today Jojo is doing great! He has his many appointments, to make sure everything is going well, and so far he gets A+’s all around! His favorite foods are avacado and pb & j (not together). We do a lot of alternative cooking, and make things that everyone can enjoy.  There are dairy products in our house, and we need to keep an extra eye on Jojo, when Noah is eating them.  There will be dairy in the real world, so we need to teach him now that there will be things that he cannot eat, and not everyplace will be able to accomadate his restrictions.  But for now Joseph is a happy and healthy growing boy.

 

Joseph’s variation of Galactosemia is a lifelong disorder. We are so thankful for the newborn screening policy that New York has. Because of it, we were able to catch this at just 5 days old. But some families are not so lucky.  All states now test for this disorder on the newborn screen but sadly not all make it to the labs in time, or simply are lost in the mail.

In addition, there is a lot we do not know about the condition since it is so rare. Unfortunately, in order to get government grants to do studies on such conditions we must demonstrate there is a demand by raising money privately. So, the more money we raise, the more likely we are able to get federal grants. Please join us for our upcoming events!

 

My favorite quote compliments from a close friend, is “he was put here to make people smile,” and that’s exactly what he does.