Kelly is 12 years old and from New Jersey.  Since we originally posted Kelly’s story (see below), she has so many wonderful things going on in her life. She has begun to use a talker and can now communicate with her teacher, parents and best of all her twin sister.  Then in 2017, Kelly became a model.


Photo credit: Karen Haberberg

Kelly was featured in ““An Ordinary Day: Kids with Rare Genetic Conditions” by New York Photographer, Karen Haberberg.  Published in October 2017, “An Ordinary Day” is a depiction of the journey families with rare syndromes live every day. Kelly’s photo was featured in a recent NY art show.  A portion of the proceeds from Karen Haberberg’s book will benefit genetic research.

Kelly’s story continues below….



This story is about my daughter, Kelly.

She is currently 10 years old and a twin! At five weeks old, Kelly was seen by many doctors as she has colobomas of her eyes, beautiful eyes that have pupils shaped like a cat’s eye. A known genetic issue but after many tests, all results said that she fine. She had reflux, but her eye issues were just cosmetic or so the doctors thought.

Kelly didn’t hit her milestones. Severe developmental delays, hypotonia, behaviors, digestive disorders, and the worst, completely non verbal. At six months old Kelly was in early intervention. By 18months, she was diagnosed with Global Developmental Delays, because nothing else fit. (Diagnosis #1.)

Right before attending school, Kelly was given a second diagnosis, Pervasive Developmental Disorder Not Otherwise Specified, PDD-NOS. (Diagnosis #2.)

After 3 1/2 years of specialists and genetic testing, Kelly’s doctor was thinking maybe, maybe not… I asked WHAT?… maybe Rett Syndrome. She wasn’t convinced and wanted to rule it out. Okay, I agreed, a simple blood test and we can move on. Except the test came back positive for mutation P225R. The doctor was shocked. (Diagnosis #3).

So Kelly’s life continued. We got therapies for her issues and she continued in school. We got lots of support from the Rett community, ultimately joining the Natural History Study on Rett. That would prove fortuitous in many ways. Kelly’s mutation was relatively rare and she was very atypical. They wanted to store a sample of her blood with the mutation for future testing. Okay, sure, a simple blood draw (sound familiar?). This time however, no one could find the mutation. The test was done three times, no, no mutation. All that could be said was the original test done at age 3 was done in error. We are back to no real diagnosis ( would you call that an UN-diagnosis ?)

And life goes on, Kelly got therapies for her issues and continued in school. We saw an eye specialist just to make sure nothing had changed. He happened to work with a genetic specialist researching eye abnormalities. They convinced us to get a whole exome study done on Kelly but the results would take months and the costs would possibly be in the tens of thousands of dollars. Would insurance cover it?

We went ahead with the testing and in June, 2014, Kelly’s tests revealed a confirmed mutation of the PACS1 gene. (Diagnosis #4). It is currently ultra rare, so new it doesn’t have an official syndrome or name yet. Through social networking and phone calls, currently as of this date, there are 18 people, mostly young children, with this confirmed mutation. Research goes on. I firmly believe as more and more people have access to affordable exome and genome testing, more people will be diagnosed with this mutation. More questions will be answered for us and for Kelly! More hope will be found.

Originally posted on Global Genes

You can learn more about Kelly’s journey at PACS1 Slow and Steady

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