Tirzah “she is our delight”

Michigan, USA, December 2020: Written by April Worden, mother of Tirzah (18 months)

Our daughter’s name, Tirzah, means “she is our delight”, and that is exactly what she is for our family!  She was diagnosed with TBR-1 at the age of 15 months.

We began noticing significant delays with Tirzah’s eye sight and hearing at the age of 3 months. She also was an extremely fussy baby, and we had concerns about her brain because her soft spots closed very early and the top of her skull and into her forehead was slightly ridged. We began seeing a neurologist and ophthalmologist, got x-rays of her skull, an MRI and she was prescribed glasses and started PT all before she was 7 months old. Our pediatrician felt confident that Tirzah would “catch up”, but we felt the gap kept growing between her age and developmental. As a mother, I kept wondering if I had done something wrong during pregnancy or while giving birth, or even after she was born, that had caused brain or physical damage. It was a heavy load of “what if...?”.

At 7 months Tirzah first rolled over from her tummy to her back. It was such a celebration! However, she could not sit up unsupported, would not use her arms to bear any weight on her tummy, she would not make eye contact or seem to even look at us or turn her head toward our voice. Mostly she clasped her hands together, put them in her mouth and stared blankly in front of her. Very little awareness of or engagement with her surroundings.

She had her first blood draw for genetic testing at 10 months. The first tests for common genetic conditions all came back normal. We said yes to each additional testing option. On September 9, 2020, we received the results that Tirzah had a de novo change on her TBR-1 gene. I felt so many emotions. I felt relieved there was nothing I did that caused her delays and nothing I could have done to prevent it. But it also meant there was no longer that thought of, “Maybe she’ll catch up.”

At this writing, Tirzah is 18 months old and is progressing in so many ways! She receives physical therapy, occupational therapy and speech therapy. We love each of her therapists and they have given us so many helpful tools and exercises. 

Tirzah is strengthening her core, legs & arms. She rolls over easily and on her tummy can pivot in a circle to get to toys. She reaches for things, can grab and pull. She can sit unsupported for a couple minutes at a time. She eats soft foods, getting better and better at chewing and swallowing. She makes beautiful eye contact and gives us lots of smiles and loves to be tickled and to laugh. 

She makes lots of babbling sounds and is starting to make a few consonant sounds, although no clear “mama”, “dada”, or “baba” yet. She will communicate through reaching for something she wants or getting really excited. She also lets us know when she’s unhappy with something through her fussing and crying.

We are eager to see Tirzah continue to progress in her abilities. We are so glad we pursued every option we could to find a diagnosis. 

Tirzah is our delight and our family is so much better with her in it!