Things are finally moving...

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Things feel like they are finally starting to move. We have a number of updates since our last post. 

Genetic Testing
The whole exome sequencing resulted with no abnormalities, but we are still awaiting the mitochondrial results and from what I understand, that may take quite a bit longer. We feel a sense of relief that there were no genetic abnormalities found, but still struggle without answers.

Growth
Despite our best efforts, Ellie's weight was still not improving. We visited with a pediatric dietician last month and now Ellie is receiving the majority of her nutrients from prescribed formula and a very high fat/caloric diet, including benecalorie (ick). Over the last several weeks, she has decided she only wants the formula and foods that are mostly in puree form (i.e., not feeding herself). We really hope this is just a phase, because even after everything that has happened over the last (almost) six months, she has always LOVED to eat and feed herself. 

We are happy to report, the new diet is paying off! She has finally put on some weight and just hit the 19 lb mark at 18 months. There hasn't been as much movement with her growth (height), so we now have a referral into an endocrinologist.

Another Opinion
We received a referral to Seattle Children's for pediatric neurology, rheumatology and bio chem genetics. We have two of three scheduled at the end of February and hope to have the third one (genetics) scheduled soon. It sounds like for the genetics piece, we may have the opportunity for a telehealth consult, which would make life a little easier. 

Ellie's Care Team
We are truly thankful for everyone who has been working with us to figure out what is going on. We have an amazing pediatrician that I am thankful for every single day. A care coordinator that has been there for us every step of the way, supporting us with all the stuff you have no idea that you even need. Our therapists (PT, OT and ST) are real life super heroes. Ellie's rheumatologist has been amazing and is truly invested in her, focused on helping us find answers, even consulting with specialists around the country, including an NIH expert. Whatever is happening is so extremely rare that everyone is just baffled.  

Other Changes
With everything going on, I made the truly difficult decision to go to part time at work and take 6-weeks leave (starting in February), to focus on Ellie and our family. I hope this to only be temporary, but until we know what the future holds, I am trying not to make any big decisions. I am thankful for such a supportive employer and work family for allowing me to do this for my family. 

This little cutie is 18-months old today. We are definitely not where we thought we would be at this milestone, but we are truly thankful for such a sweet, easy going, happy, loving baby girl. We love you Ellie 💗 



Comments

  1. AnnetteJanuary 19, 2022 at 7:29 PM

    My thoughts and prayers for all of you and her team.

    ReplyDelete
  2. UnknownJanuary 19, 2022 at 9:30 PM

    My thoughts and prayers have been with the Johnson family since day one and will continue to the end

    ReplyDelete
  3. UnknownJanuary 31, 2022 at 3:13 PM

    My thoughts and prayers for your family.

    ReplyDelete
  4. CatherineFebruary 2, 2022 at 5:45 PM

    Sending love and prayers!!

    ReplyDelete
  5. Stella GrantFebruary 10, 2022 at 1:39 PM

    This comment has been removed by the author.

    ReplyDelete
    Replies
    1. Stella GrantFebruary 10, 2022 at 1:43 PM

      Thank you for making it possible for us to keep updated on your precious Ellie through this blog. We have been praying for you all since we learned of your need. We love you.

      Delete

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