Where we are now…
- We are still waiting
- We are making some exciting steps
- Mason had a little “hiccup” in his pretty long stint of good health
- And last but not least, Mason is as adorable as ever
Still Waiting…..
The bronchoscopy went well and
the fluids were sent off for test. All results have come back negative or what
has becoming like fingernails to a chalk board to me “inconclusive”. The one
major test we are still waiting to hear results of is the genetic blood work.
The genetic test will be able to definitively give us a diagnosis or leave us
with the only other option of diagnosis, which is a lung biopsy. The turn
around time for this is usually 6-8 weeks. The first week of March will be the 8-week
mark and I can hardly take waiting any longer. Can we get some answers
already?!? So…..we wait
Making Exciting
(very, very, very exciting) Steps
Searching for information on
chILD gets you a very dismal amount of information. Searching for support
groups and contacts to other parents or families dealing with chILD gets you
pretty much nothing. Recently I was connected to a Facebook group of parents to
chILD kids. This group has been such a great resource of information. To hear
the stories about others path to diagnosis and people posting daily with
updates and questions has been absolutely invaluable. This group is how we made
our EXCTIING step! (can you tell how EXCTIDED I am about this?)
A doctor specializing in chILD has
agreed to take on Mason’s case. First let me tell you there are probably only a
handful, literally not even 5, doctors that have extensive knowledge of chILD.
Second, this doctor is arguably the leader of this very selective group. Third,
everyone in the Facebook group had nothing but amazing things to say about her
and her staff and said they would drive days if needed to see her. Fourth, our
pediatric pulmonologist in town totally sang her praise and was more than
excited to get her on board. Fifth, she has been having email correspondence with
us and seems like the most caring doctor who is already invested in Mason. Sixth….ok
really I don’t think I need to go on. THIS IS EXCITING!!!!
Right now we are in the process of
transferring files and test results for her to review. The goal is to see her
within the next month to either A) if genetic test gives us a diagnosis we’ll
talk treatment B)if genetic test are inconclusive we’ll talk biopsy. Jonathan
and I could not be more happy with our doctors here in Tulsa however we are so
excited to have a specialist assist us with getting the best possible care for
Mason.
Mason had a little
“hiccup”
Mason has a
pretty long stint of being overall healthy. His retractions were almost gone
and his respiratory rate was under control. We were in the process of tapering
him off his oral steroid to try and find what the very minimal dosage Mason
could be on and still be stable. Things were looking good!
Then a
stinking virus hit our house. The first sign that Mason is getting sick is
always his fluid intake. It’s usually a pretty distinct progression. He barely
drinks, then you start to notice retractions when he breaths, then he drinks
even less and starts refusing food and then his respiratory rate increases. This
pesky virus stopped our steroid tapering, we had to up it back to 3ml a day,
boo. His strange “I’m sick so I won’t drink” caused us to go to the ER for some
good ol fashion IV fluids. (Side note: just a little reminder of how rare chILD
is. Our sweet ER doctor came into the room to see Mason and promptly told us
that as soon as she read his chart she ran to the computer to do some quick
research on what chILD was.) Just like previous times of being sick; the IV
fluids perked him right up and he has been on the mend ever since. I have no
earthly idea why this kid won’t drink when he is sick! Mason is still a little
on the snotty side but is drinking, eating and playing like normal. Wahoo for
that!
For those of you who may not know what retractions are or just want to see what Mason's look like here is a video. This is not the worst Mason has ever been but they are visible here. Watch the skin retract between the ribs when he breaths and you can clearly see him "belly breathe." He is a toddler on the move so this is the best I could get.
Last but definitely
not least….Mason is still as adorable as ever
