Hello, My name is Sue DuPont, the mother of 22-year-old Ernie DuPont. Ernie was 17 years old when he was diagnosed with Degos disease. 

Ernie was a senior in high school and a great athlete, he was the goalie of the varsity soccer team and broke the sit up record for the high school he attended. He is also a wonderful person and son. 

He is a man of character and was 15 years old when we saw his first spot and we thought it was a pimple or something like that. 

We took him to the pediatrician and he said he had no idea what it was and said try to put neosporin on it. 

Nothing happened, it stayed the same. Over the years he got more on his chest and few on his back. 

The summer of 2009 my sister-in-law said that she thought it was molluscum contagiosum, and that is what the pediatrician said at his check up in January 2009 as well. 

I wasn’t satisfied and took him to the dermatologist, the dermatologist did a biopsy on one of Ernie’s reddish premature lesions. 

A week later, the dermatologist told us the lesions could be Lupus or Degos disease, and that he needed another biopsy. This time a deeper tissue sample of a mature white-centered lesion. 

We immediately went back the next day and had the biopsy done. 

In the meantime we looked up about Degos disease, because we never heard of it. It was devastating! 

A week later, the dermatologist called and gave us the definite diagnosis of Degos disease. No one in this area of New York or the states that we or the doctors knew of knew anything about Degos disease.

We were referred to Dr. Lee Shapiro, a rheumatologist , who also never heard of it before, but said he was “on the case,” and thank God he was. 

In December 2009, Christmas night Ernie got seriously ill. He had pain, vomiting, and fever. 

He had an obstruction from perforation that had healed. The surgeon fixed his obstruction. 

The surgeon told us Ernie’s intestines were covered with lesions, that was more devastating news, because we knew, based on what we read and what Dr. Shapiro had found out from the Degos disease website experts that these patients have all died before that point. 

While Ernie was dying from sepsis in the PICU of Albany Medical Center, Dr. Shapiro found a doctor in Cornell that had treated a similar individual with a drug called Eculizumab, and almost within a few hours improved and is still alive today. 

Dr. Shapiro got in touch with the doctor of the drug company, and they sent it to Ernie as fast as they could. 

There was a day delay from bad weather, but he received it two days later and within hours his vitals started returning to normal. It was truly a miracle. I will elaborate on that some other time. So you see at that time to our knowledge. 

Ernie was only the second person to survive this type of systemic Degos disease. Of course over time more communication between Dr. Shapiro and other doctors interested in Degos disease has taken place.

Ernie was able to get a tutor, go back to school, and graduate with his class. 

He continued to have progression in his brain and bladder, but both of those have been resolved, from the Eculizumab being increased for a time. He has also been on Remodulin, a vasodilator, for 3 and 1/2 years. 

That is a story for another time. That is also a miracle story. 

In September of 2013, he had a left lung pleural effusion, which has also been resolved, with an increase in Eculizumab for a time. 

He is back to every other week again on the Eculizumab instead of every week and his lung is barely draining enough to cover the bottom of the bottle. Hopefully the pleural tube will come out very soon.

My son has been through things that I don’t think I would have survived. He is my hero. He is the strongest person I know. He has been as low as the most low and has come back. He has had panic attacks and suffers from anxiety too.

Finally, my daughterm, Jennifer, who is now 17 years old, was diagnosed at 15 years old with Degos disease. 

She got her first lesion at 15 years old just like Ernie so of course we immediately knew it was Degos disease. 

She has been on 81mg of aspirin daily only, and has not progressed like Ernie. 

Dr. Shapiro believes she only has cutaneous Degos disease and will not get systemic. We are hopeful.

As a family we spent a week at the National Institute of Health in Bethesda, Maryland having many blood tests, skin biopsies, radiology scans, and MRI’s. 

Of course Ernie had more tests than the rest of us. 

The doctors are looking for a genetic component to Degos disease. I know that one girl was there before us with Degos disease of her heart only, no skin lesions and one other woman has gone there after us. 

We haven’t heard any results yet from the genetic testing. That takes a long time. When I hear this I will post it to this website. 

By the way, the doctor in the story, Dr. Aixa Toledo was a fellow at the time Ernie was in the PICU, and she helped Dr. Shapiro with Ernie’s care. She continues to see Ernie on a regular basis for Degos disease. 

In my opinion, over the last four years, Dr. Shapiro and Dr. Toledo should also be considered top experts in the world on Degos disease. Without them, my son wouldn’t be here. 

We thank God everyday for them. We praise God everyday for what he has done for our son and daughter. I will continue to post updates. 

Thank you and God Bless,

Sue DuPont