For the past three years Logan has been our little mystery. She was born in the summer of 2012, and was by far my easiest pregnancy and delivery! She was a happy, healthy baby, full of smiles and giggles. She was a dream baby!
At around 6 months we started noticing that she was not meeting some of her milestones. She was not rolling around regularly, and she was not sitting unsupported for more than a few seconds. Our pediatrician suggested we waste no time in figuring out why. What could it hurt, right? Before we knew it we had appointments with neurology, developmental specialists and genetics. She had an MRI that was completely normal. The developmental specialist could not see anything wrong with her, suspecting that she would just “catch up” in her own time. The geneticist had speculations and ordered some tests. All came back normal. No one could pinpoint anything.
While we were trying to find answers Logan was receiving physical therapy (PT), speech therapy (ST) and occupational therapy (OT) through an Early Intervention program here in NC. Let me tell you…these people are amazing! Before all of this I had no clue something like this even existed. These therapists are selfless angels and do not get the recognition that they deserve. More will be coming on them soon!
Logan also has an eye condition called intermittent exotropia. Basically, the eyes drift outward at times, usually when she is tired or sick. We weren’t too alarmed by it when we noticed it. One of her cousins has it and is totally “normal”. After a year of patching the eyes for two hours a day, five times a week, we opted for surgery. It is a very simple procedure with quick healing time. She did fantastic, and we saw improvements all around. Could this be the cause of her delays? Some specialists thought so. Some did not.
Eventually we found out that she also had Cortical Visual Impairment (CVI). This is when the brain does not correctly interpret what the eyes are seeing. Luckily, she has high functioning CVI, just enough to qualify her for vision services. Could this be the reason for her delays? Perhaps.
For 3 years I scoured the internet trying to find answers. I googled, I stalked Facebook groups and message boards, I read medical articles that I could barely understand. I found alternative therapies and tried them all. Some worked, some not so much. I changed her diet, using a modified GAPS method (this deserves it’s own post too!). I was willing to try anything I found, willing to ask any questions to anyone who would listen. I was not accepting that she would just “catch up”. Call it mother’s intuition.
Then, one day we experienced true divine intervention. My sister randomly saw that someone was speaking at her neighborhood clubhouse about autism. Like everyone in our family, she always had an eye out for any possible answers. She sat and listened to this woman speak (I cannot remember her name at the moment), then spoke with her one on one after. This woman told her that we needed to see Dr. Jiang. He is notorious for solving medical mysteries, and would not stop until he found the answer. He is in fact the best. In the world! She asked where he was…Duke University. That happens to be 15 minutes away from us! Wow. I got chills when she was telling me all of this. I immediately called his office and started the process of begging and pleading to be seen. It was not going to be easy.
That very night I got a call from my mother in law. She had just finished walking the dog, and ran into a neighbor. This man was the head of genetics at Duke. They got to talking about Logan and he said that she must be seen by these specialists. Guess who. Dr. Jiang! How is this possible to happen in the very same day? How had we not heard of him before?! Needless to say, the neighbor was our ticket in! Before we knew it we were sitting in his office.
Dr. Jiang, who is quite an amazing soul, could not see anything wrong with her. After spending 2 hours with us he enrolled us in the NC Gene study. Basically an in depth genetics testing trying to find answers for these medical mysteries. It was a simple blood test for Logan, David and myself. We were told that only 20% will find an answer. We weren’t holding our breath.
Almost one year later, the results came back. Pitt Hopkins Syndrome. In a way our world turned upside down. We were happy to finally have an answer, but what would this mean for our sweet Logan? For all of us? This syndrome is quite rare. There are only 350 known cases in the US…3 of them are here in NC! Dr. Jiang told us not to compare her with statistics on the internet, since the information and research is quite new. He guided us to a Facebook group of families with this syndrome. They would be the best guide for us. They have been a Godsend! They are truly amazing people, and have given us some sunshine when this black cloud hovered over us. They are making me excited for Logan’s future. The sky is the limit for this girl!