Posted September 20, 2020
I am Roger, a 60-year-old man who was born in 1960 with DiGeorge Syndrome and the 22q11.2 Deletion Syndrome but did not receive a diagnosis until I was 43 years old!
My journey to diagnosis was a long and painful experience. I had been diagnosed early on with Epilepsy (which I don’t have), idiopathic hypoparathyroidism, severe hypocalcemia, and rickets, all of an unknown cause. I did have seizures but found they were caused by severe hypocalcemia, not by epilepsy.
In February 2003, I had the good fortune of partnering with an Endocrinologist (who was my primary caré physician), promised me that I would get a “REAL” diagnosis, It would just take some time my he said. After a couple of office visits and an incorrect diagnosis of “Rickets, my Endocrinologist, in April 2003 told me that I probably had “DiGeorge Syndrome.” I was 43 years old.
By the fall of 2003, I had an office consultation with a Geneticist at the University. My doctor didn’t think I had DiGeorge Syndrome because I didn’t have any known congenital heart defects which he said is the hallmark of “DiGeorge Syndrome.” He refused to test me and I didn’t see him again until February 2004. He had attended a medical conference and saw a poster that described my exact symptoms. He decided to test me for 22q11.2 Deletion Syndrome. In late March 2004, at an office visit, my Geneticist revealed the answer. I did have “DiGeorge Syndrome.” What a relief.
In the fall of 2004, I was invited to Children’s Hospital of Philadelphia to participate in a clinical research study and to rule out a Mosaicism (is a condition in which cells within the same person have a different genetic makeup). I was tested again and it was positive for a 22q11.2 Deletion. They analyzed 100 cells and all 100 cells were deleted. I had a very large deletion size of 3.5 mega bases I was told. I have over 37 genes missing including the DiGeorge Critical Region Gene.
Before my diagnosis, I had worked in the airline and hotel industry from 1983 to 2009. I worked full time in the hotel industry until I couldn’t do it anymore. My treatment consisted of Calcium Gluconate by infusion 3 times per week, 3-4 hours each treatment. Today, my treatment is the same but I have a new Endocrinologist as my beloved initial Endocrinologist and Primary Care Doctor is at the university as a Professor Of Medicine. However, in July 2019, I was diagnosed with Pancreatic Cancer.
Late fall 2008 was the breaking point for me, emotionally, mentally, and physically. I had no family support of any type. I was financially on my own. I was missing a lot of work because I was continuously at the infusion center. With my Endocrinologist and Geneticist support, I stopped working full time and filed for Disability Benefits. I was automatically approved since I met the Social Security Disability “Listing Of Impairment” of “DiGeorge Syndrome.”
I have had media coverage throughout this time on ABC News, The Denver Post (front page), 5280 Magazine, and a journal article published in The Journal of Allergy and Clinical Immunology.
My biggest life accomplishment was to purchase a single-family home with my own land and no HOA. I achieved the “American Dream” while on Disability, only in America, do dreams really come true. I finally have an affordable home in a great historic neighborhood where I can live out the rest of my life as a landowner and not a renter, living with DiGeorge Syndrome and I now know for certain what my “REAL” diagnosis is!