Meet Edith!

This sassy, spunky, energetic, and very happy little 5 year old. She was born July 3, 2013 normal and healthy, or so we thought. At about 3 months old, we found out Edith had torticollis and had to start physical therapy. She did great and seemed to be recovering quickly, but other things were showing up as we continued PT. She wasn’t hitting her milestones and getting farther and farther behind the other kids her age. Finally at about 1 years old, we knew we needed to figure out what was going on. We went to Children’s Hospital in St. Paul to see a neurologist and then a geneticist. There were lots of blood tests, x-rays, and MRI’s done between the two specialists, but not much for answers. It was good news, but we still knew there was something going on. Finally December 2015, Edith’s geneticist said we needed to try an in-depth genetics test. All three of us had blood taken and we were told that there was only a 25-30% chance that we would get a diagnosis. Well, March 17, 2016 we received a phone call that they had a diagnosis for Edith. She has Pitt-Hopkins Syndrome. We were unsure of what that meant for Edith, but we had a diagnosis, which meant we would have a better idea of what was to come in her future and how to better take care of her. We met with her geneticist, who told us more information on her diagnosis.

What is Pitt-Hopkins Syndrome you ask? It is a rare genetic disorder that affects the TCF4 gene in the 18th chromosome. The gene can be affected in different ways, such as a mutation, a deletion, a partial deletion, a duplication, mosaic, etc. Edith has the mutation. Neither Lance nor I carry this gene. She is a first generation in our family, which seems to be pretty common. We were told it was just some fluke thing that happened. Once we started reading what the symptoms were, we felt she was almost a full on poster child for this genetic disorder. A majority of the kids do not walk until later in childhood, which Edith does not walk without assistance or crawl at this time, but she is getting there. A large majority of them are non-verbal, but there are a few out there who can speak, and some very well. They can have constipation issues, apnea and/or hyperventilate, and have low muscle tone, plus a few other things. About 50% of the cases have seizures, which so far, Edith does not. As far as we know, there are about 700 cases reported in the world! She is one special girl.