Isaac’s story was written by his mom, Sara.
Isaac is our first and only child. He was born weighing a healthy 7 pounds 2 ounces, and at first he was a perfectly healthy baby, or so we thought.
A few hours after his birth, we noticed he looked a little jaundiced, which we thought wasn’t unusual since many newborns can be for a little while. But his color kept getting more and more golden to the point where medical staff didn’t want to wait to check the bilirubin, so they did a blood test which showed extremely high levels. Isaac was immediately transferred to University Hospitals Rainbows Babies & Children’s Hospital where he was put under phototherapy lights.
We of course had so many questions, but the doctors couldn’t give us answers as to why this was happening. Nothing was making sense. We just knew that our baby was extremely anemic and would probably need a blood transfusion. After a time, the lights were helping the bilirubin come down. Further testing was done, but we were told we wouldn’t get the results for awhile.
Isaac ended up needing a blood transfusion at four days old. He stayed under the lights in NICU for a week; after that we were able to go home. The evening before we left, the doctor told us the earlier blood tests came back, and they were pretty sure he had an inherited blood disorder called pyruvate kinase deficiency (PKD). We’d never heard of this before since it’s a rare disorder. We searched the internet for research on PKD, but we didn’t find a whole lot.
We brought Isaac home and had many follow-up checkups at his pediatrician’s office and Rainbow Babies & Children’s Hospital over the following weeks. A month later, genetic testing confirmed the diagnosis of PKD. Isaac continued needing blood transfusions every four weeks at that time.
When he was about six months old, my mom urged us to see Dr. Wang at DDC Clinic, and we learned he had a few older patients with this disorder. Without hesitation, we took Isaac there. DDC Clinic exceeded our expectations with the help and care they give. We also discovered this is where they performed the genetic testing we had done at Rainbow Babies & Children’s Hospital.
We got into a routine of blood work every 3 weeks to check Isaac’s hemoglobin at DDC Clinic and a transfusion every month at Rainbow. After a while we could tell when he needed a transfusion; Isaac would start looking jaundiced and was more tired than usual.
Dr. Wang informed us of what to expect and watch for: increased heart rate, iron overload and enlarged spleen. A splenectomy could also be an option in the future to slow down the need for transfusions or stop them altogether.
We are so grateful to have DDC Clinic so close to home. Isaac is otherwise a healthy, very active toddler. He’s had 15 transfusions so far; he needs them about every six weeks now. Between regular visits to DDC Clinic and hematology at Rainbow, we can manage to keep his hemoglobin stable.
I’d like to give a special thank you to everyone who donates blood; you’re doing more than you can ever imagine. With you, with God, family and the continued help and research from DDC Clinic, we believe Isaac can continue to grow strong, healthy and have a good future.« To patient stories