Lovely Alina

“She is the happiest girl who brings joy to everyone”

Iowa, USA, February 28 2022, by Katie, Alina’s mum:

I had Alina at 38 weeks 1 day weighing in at 4 lbs 14 oz and 17 1/2 inches long. She was IUGR. She was so tiny but other than having problems regulating her temperature due to little fat she was healthy. To home we went. From day 1 it seems Alina has dealt with constipation. She also seemed to spit up or have more reflux than we expected. At about 2-4 months we were struggling horribly to gain weight, she was labeled as failure to thrive. We heard "oh she is just petite" a lot. At her 6 month wellness check I expressed concerns regarding her not hitting milestones, to which I got "kids go at their own pace, don't worry". But it didn't change, at her 1 year visit her grandma was adamant something was wrong as Alina was showing a lot of similarities to her (grandma) sister who had cerebral palsy. The Dr sent us to be seen by a neurologist at a specialized hospital in our area. Right away she agreed and said she she would help us figure it out. In the meantime she helped get Alina started with early intervention therapies. Due to family history they started by testing her for muscular dystrophy. That was negative, next was Angelman/Rhett syndrome (we all thought these could really be it). Those were also negative. So we were at a pause, the genetic counselor said we really had one option and it was very possible we wouldn't get answers

 That option was WES (while exome sequencing). Of course we did it. That took about 6 months for the results. In March of 2019 the genetic counselor called to tell us we had a reason for everything Alina had been dealing with, a variant in a brain development gene called TBR1. We are so thankful to have gotten answers and to know. Alina is now 5. She is the happiest girl who brings joy to everyone. She does have autism, is non verbal and not mobile. She has hypotonia and focal epilepsy. She is developmentally delayed across the board and was diagnosed with moderate to severe intellectual disability in 2020. We still deal with awful constipation but don't deal with the Gerd. She was also diagnosed with microcephly and a thin corpus callousm and large ventricles of the brain. But she is the most determined person I have ever met and we take it day by day. Where her body fails her physically it makes up for it with her personailty. 

Our journey wasn't what we expected but she sure lights up the path along the way!