Here is our story written a few years ago:

Sammy’s Miracles

We lived in Vienna and Madrid, a bit in London and Zurich, a few months in Milan. We thought we would go back after the baby was born, at least for a few years. We were pretty excited about the prospects of bringing up a worldly child! I was working in Chicago at the time, Rich was in Venezuela.

And then I had an amniocentesis. I was a bit older and my OB thought it would be a good idea. The results were, at first, seemingly benign. But, as the doc looked further into it, it was more than a satellite on a chromosome. It was  a deletion of part of a chromosome. And, there it was, Sam was the first person to be diagnosed with 22q13 deletion  in utero.  Sixteen years ago, pretty much unheard of, and so was 22q13 deletion. That is how our journey started.

Two months later, Sam was born at 32 weeks, 2.4 pounds, 13 inches long and spent the next 5 months in the NICU; first miracle. In a way, it was a (mixed) blessing. We were so entrenched in his care while in the intensive care, just praying he would survive, that the hardly known genetic condition he had was not a priority.  Even the doctors were a bit unnerved when talking about it. We just didn’t know anything.

And then another miracle, when we got home, we had visiting nurses for Sam and one of them happened to know a nurse who had a child with a disability. This disability was 22q13 deletion. The family lived a mile away. And, their daughter (Caitlin) was one of the original cases in the first article written by Dr. Phelan about the deletion.

We went to the first meeting in 1998 and have not looked back.

Sam has struggled medically over the years. He is very small for his age, has trouble gaining weight, began having seizures when he was 14 and had scoliosis surgery last year. Sam has endured so many procedures and hospitals.   But, he also rides horses, loves bicycling, goes bowling and is learning to love all kinds of music. He even has a 5K named after him! He has a smile and giggle that will warm your heart. And, like all of the children in our group, he has influenced so many lives. Everyone knows Sam.

It is not the life anyone would choose for their child. It is not what any of us expected. So, we have all changed our definitions and expectations.  But, in this journey, we have met each other.  We started out thinking that we would travel the world with our child and now we have people from all over the world coming together because of him and so many others; some in London, Melbourne, Houston, Chicago, Sarasota and all parts of the world. And, together, with help from scientists and advocates, we can improve the quality of so many lives…. including Sam’s.

An update:

Sam is 25 now.  Seems pretty incredulous.  He is out of school and living the bike riding life!  He has much more trouble with seizures now.  They seem to run our lives.  He is still happy and sweet and our miracle. 

Take a listen to my interview on the PMSF podcast:

http://www.pmsf.org/podcast-lomas/

Donations can be made on this fundraising page or you can send a check made payable to: The Phelan-McDermid Syndrome Foundation, in honor of Sam Lomas.

(Phelan-McDermid Syndrome Foundation P. O. Box 1153, 8 Sorrento Drive, Osprey, FL  34229)

Make your donations go twice as far! Many companies match donations made by their employees to our organization; reach out to your HR department to see if they are one of them. ☺ Our Tax ID # is: 04-3673104