SoCal toddler with rare genetic disorder inspires resiliency, research and hope

LOS ANGELES (KABC) -- Many rare diseases are life-threatening and most don't have treatments. Together, they affect about 30 million Americans

A breakthrough for one could lead to a breakthrough for many. That's what one local family is banking on.

Hospitals take up a large part of Oliver Nulsen's young life.

The 17-month-old needs blood transfusions every three weeks.

"Shortly after giving birth, he had a little bit of respiratory distress. So, he ended up having to go to the NICU, and he ended up staying there for 21 days," said Lauren Beck, Oliver's mother.

Every test during Beck's pregnancy came out normal, so when Oliver's red blood cells continued to drop, the diagnosis stunned both mom and dad.

"We found out a couple of months later that he had something called Diamond-Blackfan anemia," she said.

Diamond-Blackfan anemia, or DBA, is a genetic disorder in which the bone marrow is unable to produce red blood cells. So rare, only about 20 cases are documented in North America every year. Ben Nulsen and his wife are both physicians, yet Oliver's case would prove to be perplexing.

"We kind of knew a little bit, but not enough to understand the nuances of what is going on," Nulsen said.

Oliver is also missing a small piece of DNA in one copy of chromosome 3, a genetic syndrome associated with developmental delay, an increased risk for cancer and DBA.

While Oliver's parents delve into the latest data, what they learn from their son is even more valuable.

"He'll come home from a long day like with transfusions where he got poked all day. And he gets home and it's like it never happened. It's almost like he's a happy kid. He's super resilient," said Nulsen.

His parents and friends started "Friends of Oliver" to raise money for research. One very promising area is genetic therapy. A breakthrough for DBA could help many others.

"It could be applied to many things like alpha thalassemia, beta thalassemia and other, you know, transfusion dependent anemias," said Beck.

A treatment could come in Oliver's lifetime, but for now it's all about celebrating the joy he brings with every smile.

"Be a normal happy kid and to be healthy," said Nulsen. "And hopefully not to have to think about a disease for his whole life."