Hi everyone! @quicksilver thanks for creating this group!

May as well introduce myself and my family. My name is Tessa, I live in South Carolina in the US with my husband, my daughter, and part time with my husbands two older daughters.

Our daughter Ana Sofia is 22 months old right now. She has a very rare genetic mutation in the CASK gene that causes a syndrome of microcephaly with cerebellar and pontine hypoplasia. There are only about 60 published case reports on this condition but with increased genetic testing it’s estimated that about 200 kids worldwide have been diagnosed with this mutation. With this syndrome being so rare there’s not a whole lot of support which is hard sometimes.

My daughter’s condition causes generally quite significant developmental delays. Many kids never speak or walk but we’re hopeful that our daughter will be able to walk and maybe communicate at some point. At 22 months Ana Sofia is around a 10 month developmental level. She has learned to sit, crawl, and pull stand and is showing signs of being close to cruising. She doesn’t babble much but she makes noises and we know she understands a couple of very simple things (“no” and “where’s Nina” - the dog). She gets PT, OT, ST, and EI weekly and we’re starting her in an early intervention preschool in August.

Medically Ana Sofia has lots of ENT issues, especially airway issues. She has severe sleep apnea, has already had 2 surgeries for her apnea and probably needs another. She has a g tube because she has a hard time taking in enough to grow. Since getting her g tube in February she’s gained almost 5 pounds! She sees endocrine because of her slow growth and we may someday put her on growth hormone although there’s no way to know if her growth is slow because of her condition or because of growth hormone problems (there aren’t any growth charts for kids like her). She has a strong likelihood of someday developing seizures but there’s no telling when that might happen and so far she hasn’t had any.

But despite all of these limitations Ana Sofia is honestly one of the sweetest, funniest, most energetic little babies I’ve ever seen. She is so lively and fun. She loves to smile (at everyone) and lights up a room. We love her to pieces. Here’s a couple of pictures of the crazy little thing.

Parents Of Medically Complex Children