We spent more than two years chasing a diagnosis. A diagnosis would tell my why my baby girl couldn’t do things. A diagnosis would tell me when she would catch up. A diagnosis would give me a roadmap to this life. So I thought. I was determined. Turns out, I was wrong.
When my daughter was a year old, we got a new pediatrician who actually listened to my concerns. Our baby could only sit for one to two minutes and would rarely would put her hand down to prevent falling over. She couldn’t roll over, pull up or weight bear for more than few seconds. She tended to slouch to the right, her eyes rolled in/crossed and she kept her hands closed in a fist most of the time. On the first visit, the doctor sent us to a neurologist. The neurologist ordered a CT, then an MRI. He was concerned her fissures were closed so he ran more tests, but nope, they were normal. He sent us to a geneticist. She was sure it was Prader-Willi syndrome. I read, I cried, I accepted it. Nope, test was negative. I cried. More tests, more reading, more “this could explain it!” Nope, tests came back normal. I cried. The ophthalmologist said visual attention delay and pseudo-strabismus. More descriptions of symptoms but no answers. No roadmap. With each diagnosis marked off the list, I was relieved and heartbroken at the same time. She continued in physical and occupational therapy and made slow-as-molasses gains. She could use a honey bear cup, self-feed finger food, sit for a while, and babble. At 22 months she had an EMG. Normal. Except now we could add high pain tolerance to the list of symptoms. More searching. More tests. More waiting. More “This is it! Oh wait, test was negative.” More crying.
She got a rear position gate trainer at 23 months. She got around with help and Wheels and loved it. At 25 months, she rolled from her tummy to sit, she waved “bye-bye” and sat up for the first time in her bed. At 26 months she started scooting on her rear to get places and she took four steps using Wheels without assistance. At about 27 months she had a muscle biopsy and we waited forever for results. “Looks mitochondrial.” I read, I cried, I read, I cried, I accepted it. The specialist was out for several months on leave. I joined support groups as a silent observer. The day finally arrived to get the diagnosis. Mitochondrial will be hard, but it will bring with it a map. I was prepared. I had a plan. We would start supplements that can help. The specialist would officially hand me the diagnosis that goes with this map, but instead she said “I really don’t think it’s mitochondrial. The findings in her muscle biopsy are probably due to something else. I’ve talked with the geneticists. The next step is a whole exome sequencing. It’s the only test left.”
I didn’t cry the day we didn’t get the diagnosis.
I chose to step off the diagnosis-chasing roller coaster. And I could finally breath. I could finally see that my baby girl is actually 3 years old and could do so many things. Why can’t she do things? I am not sure. But she can do things because she works her cute little butt off, and we practice and try and are patient. When will she do things? On her own time. Now she is almost 5 and can do so many more things. She can drink from an open cup, say about 30 words, smile, dance, walk up stairs, go to “big school” (special ed pre-k) and so much more.
We still see the geneticist once a year. I like her and her nurse. One day we’ll do the test. But for now I’m busy planning an Elsa party at Chuck E. Cheese. Turns out I don’t need a roadmap to raise this adorable little girl. She can get where she’s going without it. Someone much larger than me has a plan. And I actually get lost even with a GPS, so it probably wouldn’t have helped me anyway.
For all of January, The Mighty is asking its readers this question: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio.
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