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Andrew
Located: United States
Symptoms: Moderate cognitive disability, Kyphosis, ADHD, Episodic mood disorder, Autistic characteristics, Hyperextended joints, Vitamin deficiencies, Fatigue, Weight loss, Hyperthyroidism, Aortic root enlargement, Mild mitral regurgitation
Harold happens to be one of the youngest individuals diagnosed with TBRS. Thankfully for Hal, this means proactive measures are already being taken and the TBRS family has already welcomed him with open arms for support. Even in utero, the doctors had suspicions that something might be wrong. Harold had a thicker than usual nuchal translucency measurement, enlarged kidneys, excessive amniotic fluid, and larger than normal size and weight. When the big day finally came, he was what they call a “shoulder dystocia” and lost a minute’s worth of oxygen. He came into the world completely blue and not breathing at 9 pounds 13 ounces. They gave him oxygen for a few minutes and then said he was stable enough to see me. As I was holding him, he turned blue again and his body was completely limp. At that point, he was rushed to a larger Boston hospital, while receiving what’s called “cooling therapy,” in attempts to prevent further brain damage. He then had an MRI and EEG and both came back normal, except for partial bleeding in the brain that was consistent with his traumatic birth and was therefore expected. He stayed in the NICU for a month and had trouble with low blood sugars, feeding, nystagmus of the eyes, and severe hypotonia. His blood sugars eventually stabilized within 3 weeks, but his hypotonia and feeding issues led to a g-tube placement the day before he came home from the NICU. Little did we know, this was just the beginning for poor little Harold. Fast forward 3 months, and we received the much anticipated call from our geneticist at Tufts Floating Hospital in Boston. Because of Covid, it was a virtual meeting with her, myself, and my husband. She finally gave us the results from Harold’s blood work and told us that there actually was a diagnosis.
She explained it was rare, brand new, and that there are unfortunately many unanswered questions that come along with it. She hadn’t spelled it out yet but already, I could feel my knees go weak. I asked my husband to hold the phone while I tried to prepare myself for the worst. “Tattan-Brown Rahman Syndrome, TBRS for short,” she said. I listened closely to every word she spoke. Every pause, I gulped. With every stutter, my apprehension grew. This was the rest of my son’s life she was frantically summarizing in just a few life altering moments. I think the mother in me tried to only hear the good things. I wanted her to say everything’s fine. But in the end, the reality is, it’s going to be a long road. Harold and the rest of the TBRS community have many hurdles ahead of them, but most importantly, they have some real big supporters behind them, every step of the way. Harold was only 3 months old when he was diagnosed, and is 4 months now. He still has severe hypotonia, ASD, VSD, a g-tube for feeding, short optic nerves, laryngomalacia, but boy can he lighten up a room in seconds with his contagious smile! He has 2 older brothers who absolutely adore him and an enormous support system within our small little town. He loves to look at faces and chew on his hands, and if he could, would like to be held at all times. Harold can’t wait to meet all of his new TBRS friends in the near future! He’s one snuggle bug that I wouldn’t change for the world and his TBRS diagnosis just makes him that much more special.
Written by his Mom.
