Alicia and Anderson​

“At 34 weeks, I had an ultrasound and the doctors could tell something was wrong. Our baby was measuring a bit big. Most parents hear things like that and it probably wouldn’t raise red flags, but I’m a nurse here in the NNICU, so I came right out and asked, “Do you think something’s wrong?” The doctor said, “Yes.” 

After Anderson was born, Dr. Blayney, his Neonatologist, sent pictures of him to a geneticist. Based on this features, very tell-tale signs, and with further testing, a geneticist confirmed it was Rubinstein-Taybi Syndrome. She also said it was shocking at the same time, because he was missing a very specific set of genes associated with Rubinstein-Taybi Syndrome. Children missing those genes usually don’t live past the age of one.

At first, it was really hard. We would put our daughter in daycare one day a week and I would just cry. I would hold it together the rest of the time, but that one day, I would just let loose. I cried a lot. One day my husband said, “Anderson’s never going to NOT have Rubinstein-Taybi Syndrome. This is our son, this is what he has. We just have to make the best of it.” It was what I needed to hear, from the right person, on that particular day. Since then, we just do typical family things. It’s more challenging but we try not to let it hold us back. And now I only need a cry day every four months or so.” – Alicia

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