I know many of you have been anxiously awaiting an update today. Kat is asleep for the night and resting comfortably. We were released from the hospital yesterday, only 3 hours after her surgical biopsy. There's something about being sent home so quickly that was very unsettling for this MD (AKA: Mama Dr.). So I slept for about 3hours...if you call it that and was wide awake at 2am! I researched more info as I listened closely to Kat's breathing and monitored her for potential bleeding. She did fantastic through the night only to be awakened at 5:30 to head back to the hospital for an upper GI.
If I had only known that we would not be called back for the procedure until 7:45, I would have headed to the Starbucks drive-thru that was open before 6!! Kat returned to sleep in the car and was in a great mood while we waited and waited; despite her very empty stomach! She made friends with a little girl who could have been her sister. The little girl was fair-complected and petite for her age, but had the sweetest smile!
The procedure involved having a narrow but long tube put down her nose and esophagus; followed by a syringe of barium. She was 'pinned down' a bit excessively by a less than pleasant imaging tech. The senior doc and resident got a great look at her trachea, esophagus and upper bowel. They did not identify any abnormalities!!!
Kat and I were both thrilled to have that test out of the way! We took a break with some strawberry pediasure and pringles for breakfast;-) Then, I went and begged the lab to attempt to work us in for her sweat test while we were in the building, but it wasn't 'in the cards.' So, we headed home in time to Skype in for Couples Therapy class.
Fortunately we were able to get in a nap, although it was brief. Then, I called the coordinator back who was working to get us a sooner GI appt. Again, not 'in the cards.' BUT, the biopsy results had just been entered into the computer and the surgeon called me right back.
Drum roll please.........
GANGLION CELLS PRESENT....NO HIRSCHSPRUNG DISEASE!!!! AMEN!!!!
As fantastic as our news was today, we remain without a diagnosis for Kat's malabsorption problem, miscellaneous respiratory issues, and failure to grow ;-(
So, you're probably wondering, what next??? That's the million dollar question!!
We have a sweat test at 10:30 tomorrow...our 4th drive into Houston this week. We will have sweat test results late tomorrow and then we will either push forward towards a Cystic Fibrosis diagnosis or be able to set it aside. The other results that are pending are the chromosome panel (due any time) and the gene sequencing for CHH, Cartilage Hair Hypoplasia (dwarfism).
Whether Kat has CF or CHH, we are in the 'one in a million' category with regards to a diagnosis. I think if I hear one more time, 'well, her symptoms aren't typical,' OR that would be 'highly unlikely,' I think I will explode!! Yes, I KNOW how UNlikely these would be with Down syndrome!! Really?? I trust we will eventually get there, but we might have to push for treating her symptoms; despite the absence of an official diagnosis.
We continue to feel uplifted in prayer and hope we can return home by early March!
We met another little girl on our way out of the hospital with a precious soul. She wore her bright pink boots in her reclined wheelchair and shared her beautiful smile with us. I suspect she had Cerebral Palsy (completely immobile) and was also non-verbal. Her mother spoke very little English, but I attempted my best broken Spanish and took the opportunity to meet lil Mara's soul...not her disability. I left the hospital honoring Kat's challenges...she is so very blessed with all of her capabilities!!
In closing, Kat and I shared a few minutes before she crashed for the night; which entailed her first 'Pebbles' scrunchie pony-tail on the top of her head;-) She got the biggest kick out of it when I gave her a mirror:))
More to come tomorrow!
Blessings to all,
Nicole
So glad to hear that Kat does not have Hirschsprung Disease. Kat is such a brave little girl. I had failure to grow issues when I was a toddler, and at age three I was admitted to the hospital weighing only 23 pounds. I remember having some of these tests that Kat is having. I was put under for an esophagus biopsy and remember waking up with my head in the toilet, throwing up barium. Yuck. By the way, the docs never found anything wrong with me, and I eventually began to grow normally. So who knows.
ReplyDeleteHopefully, you find something that is very treatable and Kat will start to grow and feel better very soon.
Hooray for no HD!! I'm keeping you all in my thoughts and prayers that we can cross CF off the list too! Kat, you are an amazing trooper! Nicole, would you share the Pebbles picture? I'm sure Kat is adorable!!
ReplyDeleteBig hugs to you both. You are on a long, hard road and I pray for a pair of ruby slippers to take you both home healthy and quickly! :)