Roller Coaster of a day

-

After a long and emotional Thanksgiving break, we were ready to get to the bottom of things. We started our day with an appointment with our pediatrician and care coordinator. Luckily, it was scheduled prior to receiving the denial letter from the insurance company last week. We had a very productive appointment; we were ready for our next steps and had a game plan ready to go (I am so thankful for these two truly amazing people). 

As soon as we got home, Pete got on the phone with our insurance company to see why they denied the request for whole exome sequencing. We went round and round between our insurance and the genetics' office (spoiler: we never really got a straight answer, only the blame game). Fast forward to the third time I spoke with our genetics' office, and I was able to actually speak with a genetics counselor, she saw in our chart the approval for Katie Beckett (KB), and she stopped straight in her tracks. She let us know that little piece of information changes everything. We don't even need to go back to insurance—KB will cover it 100% and they would be able to get everything going now, like right this second. We did an over the phone questionnaire and the kit is being sent to us in the mail. Once we receive it, we'll take it to the lab, get our blood drawn (Ellie + mom + dad) and send it out the door. Sadly, these tests take some time, 8-12 weeks, but at least we are moving in the right direction.

The initial purpose of our peds visit was for a growth recheck. At 15-months Ellie weighed 18.7 lb (14th percentile), which was the same as her 12-month checkup, right before her episode. Her length was also exactly the same, 28.7 in (3rd percentile). At today's checkup (16-months), her weight went down, 18.4 lb (8th percentile) and her length barely changed putting her at the 2nd percentile. We are very concerned about her growth and have a referral for a pediatric dietician. 

Later this week, we will also start speech therapy and are really looking forward to that. Ellie has really been trying to communicate the last several days. 





Comments

Post a Comment

Popular posts from this blog

Things are finally moving...

-
Image
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 ...
Read more

A whole lotta ups and downs

-
Image
A lot has happened since the last time I posted and today was especially difficult. Genetic Testing The mitochondrial results came back showing no abnormalities, which leads us back the autoimmune route.  Growth  We met with an endocrinologist last week, who was very eager to help us. We will be doing a number of labs as well as a growth study. This is a 6-hour infusion session, where they take her blood every 30-minutes. I have been told it can be pretty rough and we are not looking forward to it, but hope maybe this can give us some insight into what is going on with her cute little body.  COVID It finally got us, well all of us except Pete. It started with Maddie, made its way to me, and then after doing everything we could, our sweet Ellie got it, her symptoms started a full week after mine--which made for an extra long quarantine. Ellie ended up with a fever for 11 straight days and double ear infections, plus all the vomit one could handle. We’re thankful to be over...
Read more

Happy Holidays, Merry Christmas, Happy New Year... all the things!

-
Image
It has been nine months since our last update. Partially because the days have just blurred together, but mostly because this has been a hard one, and saying (writing) it out loud makes it real. There is a lot to cover, so I apologize if I am a little all over the place. To start this off, I just want everyone to know we are doing OK —Ellie is thriving and in a much better place than our last post.   Where we are now After ten very long months, we finally have a diagnosis, thanks to the NIH and Ellie’s amazing care team— Aicardi-Goutieres Syndrome (AGS). AGS primarily affects the developing brain and immune system of infants and toddlers, most often resulting in profound developmental delays, lifelong physical impairments, and persistent neurological changes. In AGS, the body’s immune system turns on itself in a destructive way, targeting myelin, or white matter in the brain, and significantly impacting the nervous system. I have found www.agsaa.org to be the most family f...
Read more