By Roy and Charlotte Hagelin

At the 2007 IDF National Conference, when Carol Ann Demaret and Dr. Jordan Orange dedicated their comments to the memory of “Jack” the question on many minds was “Who is Jack?” We are Roy and Charlotte Hagelin from Fairfi eld, New Jersey, and we would like to share the story of our son, Jack, with you.

On September 4, 2002 our family was blessed–Jack was born. He was a beautiful baby, but shortly after his birth, Jack began spitting up and experiencing diarrhea. At fi ve weeks, Jack was malnourished, dehydrated and almost down to his birth weight. He had to be hospitalized. We were alarmed because Jack’s uncle and male cousin had suffered from these same conditions. There was never any diagnosis for these boys and unfortunately, they died at young ages.

Did our Jack have the same condition?

After a 10 week battle of trying to fi nd out what was wrong, the only diagnosis the doctors offered was a “severe milk protein allergy.” Jack’s formula was changed and he improved. However, his lower extremities started to swell, initially starting in his right foot, then spreading through both legs and scrotal area.

Infection after infection, hospital stay to hospital stay, Jack’s “milk allergy” just didn’t seem to be the answer. We saw some of the best doctors on the east coast, traveling from one state to another on a quest for the right diagnosis.

Then another odd symptom appeared. At ten months, when Jack cut his fi rst two teeth, they were pointed (cone shaped). A

A turning point came during one hospital stay when we asked for a dental x-ray. A dental resident suggested that our son had Ectodermal Dysplasia. This led us to a genetic specialist and an immunologist who explained that patients with Ectodermal Dysplasia often also have primary immunodefi ciencies. Jack’s medical history fi t into the diagnosis. We were then told about Nuclear Factor Kappa B Essential Modulator (NEMO), a rare xlinked primary immunodeficiency.

When Jack was threatened with pneumonia, he had an emergency hospitalization which led us to the Children’s Hospital of Philadelphia (CHOP) and Dr. Jordan Orange. That hospital stay changed our lives. The tests confirmed the NEMO diagnosis and Jack began a regimen of immune globulin therapy. While it was an incredible feeling to finally have a diagnosis, we were also told that most boys with NEMO have a life expectancy of only ten years.

When we heard about stem cell transplants, we felt it was the only option for our son to live a long healthy life.

In March 2006, we prepared for Jack’s transplant. A generous stranger was a perfect unrelated donor match, and on March 25, the transplant was done, but did not progress well. Jack’s blood count was not what it should be and Jack wasn’t making enough of the “right” cells to cure his immune issues. Thankfully, the donor again provided bone marrow and Jack was re-transplanted on May 17. This time, all went well and Jack was released from the hospital on June 10th. We were now beginning a new life as a family with a child who we hoped would soon be “cured” from his immunodeficiency.

The next year was filled with weekly visits to the hospital lab to check Jack’s blood count and deal with gastrointestinal issues that stayed in the way of his getting healthy. Then, on March 16, 2007, Jack was hospitalized again. He had been taking medications to suppress his new immune system and developed a cough that led to pneumonia. On March 27, Jack’s little body decided not to fight.

So, this is Jack, our Hero. He gave us life and love. He will remain in our hearts and his legacy will be a part of all of our lives, forever.