3 members of Michigan family suffering from same rare disorder

CANTON, Mich. – Shwachman-Diamond syndrome is a disease so rare that only nine people in Michigan are known to be affected, according to Canton mom Erica Frew.

She should know, because three of them are her children.

Kyle, 7,  and twins Ian and Gavin Frew, 2, are just like any three siblings. They play, fight and compete for mom's attention. However, they also share a rare genetic disorder.

Kyle was diagnosed with Shwachman-Diamond syndrome -- or SDS -- when he was 2 years old.

SDS is an autosomal recessive disorder, so there's a 25 percent chance that in any pregnancy a child will be affected.

After Kyle's diagnosis, his parents, Erica and Rob Frew, considered that risk before getting pregnant again.

"We took a calculated risk. We wanted to expand our family," Erica Frew said.

The odds should have been in their favor, even more so when they found out they were having fraternal twins. But sometimes, people are handed unlikely challenges.

"They both hit the genetic jackpot, I guess," Erica Shrew said. 

Testing found the  twins both inherited SDS.

SDS can cause problems in many different organs to different degrees in affected individuals. All three boys have digestive problems.

"Their pancreas does not produce the digestive enzymes needed to digest fat," Erica  Frew said.

That means they have to take replacement enzymes with every meal and mega doses of certain vitamins.

Even more serious are problems with the bone marrow, where the cells in our blood are formed.

"Kyle and Ian are doing rather well, Gavin on the other hand presented with a very profound anemia that is highly unusual," Erica Frew said.

When he was first presented with problems, Gavin's blood count should have been above 10.5 -- his was 3.8.


His mom recalls when she found out. "I was standing in line to vote in the 2012 presidential election when I got the phone call that I needed to immediately take him to the ER . His hemoglobin was so direly low that he wouldn't have lived a lot longer," she said.

That was only the first of many transfusions for Gavin.

"He averaged a blood transfusion every three weeks. He's had about 40 red blood cell transfusions. He also received platelets and he's also, since August, been receiving IV pooled immunoglobulin from donated plasma," Erica Frew said.

Gavin couldn't live on transfused blood forever so he was considered for a bone marrow transplant. But they wanted to wait till he was at least 2, which was in February 2013. Until then all they could do was wait, counting on the generosity of strangers donating blood.

"It affects so many people and it's so important. You're saving a life every time," Erica Frew said.

A bone marrow match did come. Gavin was a 10-out-of-10 match to an unrelated bone marrow donor from Germany. The family doesn't know who he is.

Gavin has done great since the transplant. He's been cured of the blood-related complication of SDS. Unfortunately, his brothers are still at risk.

"He'll be six months post-transplant on Feb. 7," his  mom said.

Most importantly, everyone knows without the transfusions he would never have made it this far.

Her message to other families who might face similar challenges? "They are the ones that have their disorder, it doesn't have them. I don't want them to be victims," she said. 

To donate blood at Gardner-White stores on January 22nd, click here.

To learn more about Shwachman-Diamond syndrome, click here.

To visit the website of the Shwachman-Diamond Syndrome Foundation, click here.

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