A Diagnosis of Primary Immune Deficiency Disease: What Took So Long?

by Betty Filippelli-Gordon

I fell sick at age four, the cause of which, we assumed was a leak in a sewer pipe that traveled through my bedroom closet.

After that, I was hospitalized with double pneumonia.

I, who never had a cold, was sick from there on out. I had everything from bronchits, sinus, and allergies ti recurrent pneumonia.

I was finally diagnosed at age 56 after a failed sinus surgery. My ENT correctly diagnosed me then but other MD’s refused to listen. I can still remember my Mom arguing with all the MD’s,  “She has never had a cold before this! There must be something you can do.”

But by this late in life, my career and my social life were already destroyed. My family was turned upside down. Finally, I begged my allergist for a simple blood test and in two days the administering MD said to me: “I never thought you had this.”
What took you so long? Constant bronchitis and sinusitis should have been a big clue. Now my doctor says he has over 20 patients who have this disease- he diagnosed them based on my case.
What took so long? MD’s who did not understand Primary Immune Deficiency Disease or PIDD) doctors who should have sent me to Boston (1 hour away) where in 1950 at Boston Childrens, (when I was age 4) children were treated successfully with IM shots of IgG by Dr Rosen. It was 2004 before I received IVIG and in 2012- subq Hizentra gamaglobulin. I’m now being treated by a Boston immunologist. My greatest regret is that my mother never lived to see my diagnosis, even though she was right all along.