I haven’t blogged in a few weeks because to be honest it has been crazier than normal at the Jetton Circus. James and I embarked on a very long awaited trip to Kennedy Krieger Institute at John Hopkins in Baltimore, MD for Hattie to see a specialist in congenital myopathies in mid January. It was freezing – we left in an florida ice storm -per the usual with James and I traveling. We were very thankful to be able to leave the big girls with Yaya and Bobo (my parents) at the farm for a few days and have some one on one time with Hattie K. She had her first flight(s) ever – which you would have thought she was a seasoned traveler. Bumpo seat + veggie straws + lots of attention = winner winner chicken dinner.
James and Kaet got to enjoy some crab cakes and crab legs – and also life with one child. We seriously laughed a lot at how difficult we used to think it was to have just one baby and just rested in the joy of having 3 + 1 on the way and what an amazing joy God has brought into our lives.
Our hopes for the trip were to confirm that Hattie did have a myopathy and that we are doing all we can for this but much to our surprise (shocker….we expect roller coasters in this journey) this was not the case. We met with an amazing female physician and spent at least 4 hours in the clinic talking with her, a geneticist and physical therapist. The specialist (who sees myopathies all day every day – as well as researches them) feels that now that Hattie is starting to get older she is actually beginning to show some global delay (areas other than just motor) and that her muscles and gene mutation (RYR1) aren’t the sole cause of why Hattie is Hattie. Interesting fact – a very small amount (like <2%) of the population have the RYR1 gene mutation and have no muscle disability whatsoever. We have never gone down any other pathway but the peripheral (muscle) so now we will journey down the central pathway for possible causes including an MRI (brain and spine) and full genetic array of the WHOLE family. She did encourage us in all we are doing for Hattie and the lengths we are reaching to get her the help she needs.
This news was slightly discouraging yet encouraging at the same time. Something might be there that could improve slowly over time (still not resolve but improve) but it means we start back at Hattie Square 1. No new answers and actually less answers that we had before. We continue to chose joy inspite of fears or frustrations because of who Hattie is and continues to be. She is a light to all who contact her and is a central part of Team Jetton in this crazy journey. Soooo whats next – we wait and see – We may get results or we may not. We may open rabbit holes that have no end – but we are prepared.
Hattie is continuing to meet small inch stones – we see very sparatic weight bearing through her legs and she HATES tummy time so is getting much better at rolling from front to back. She has started to be able to feed herself some foods including veggie straws, granola bars, green beans/strawberries (new this week) – getting closer to using her sippy cup with assistance and is definitely reaching more. No new words but we love to smack our lips and make our teeth grind (yikes!). She laughs constantly at her older sister and reaches for them now – Oh and yes she has started to shake her head no….which is horribly fantastic for mom and dad! Thank you for all the continued prayers – Update on life will be more frequent I promise!
-Kaet