The Symptom Puzzle

We had our first appointment yesterday at Texas Children's Hospital (TCH). Katarina met the developmental team...developmental director, speech therapist, physical therapist, nutritionist and genetic intern. We now have an appointment with the pediatric surgeon on Friday to address the pre-liminary diagnosis for Hirschsprung disease(HD) that we received in Lubbock. A confirmatory 'full thickness' biopsy of the colon needs to be done in order to know whether Kat definitely has HD. The initial biopsy does indicate a strong likelihood of HD, but we must take the next steps to know for sure.

In the meantime, we await blood work results to begin exploring other challenges Katarina may be facing. She recently had an elevated thyroid level; which is not uncommon in children with Down syndrome (DS). The thyroid is one of the easiest problems to treat. Another challenge Kat may be facing could be a type of leukemia. With Down syndrome (DS), there is an association with leukemia; although it is a small associaton, it is a possibility. Her recent battle with multiple infections and her difficulty in gaining weight certainly raises concern.

NOTE: God is great! We got the bloodwork back TODAY despite being told it could take a week! EVERYTHING came back NORMAL except her thyroid function; which we already knew was elevated. This means for now, we can set aside 'leukemia' as a diagnosis, and focus on the colon and malabsorption issues.

You are probably beginning to gain a better sense of how incredible Katarina really is. I have always known her uniqueness and yet I am still absorbing the depth of her uniqueness at a physical/medical level. We will do everything we can to get the medical team to understand the complexity of what is going on in her body as swiftly as possible, despite her joyous soul and peaceful state of being!!

We are grateful for your prayers and ask that you continue to pray for the medical process to function at its best in order to get Kat closer to the treatment phase!

Katarina has been feeling great despite all of her challenges. She was her precious self all day yesterday....and didn't meet a stranger. I was most touched by the spontaneous kiss she blew to another little girl waiting to get bloodwork done at TCH. That moment fully captured her spirit!!!

Hugs and love,
Nicole

P.S. The clouds have cleared and the sun is out, the wind and waves have subsided...kind of isomorphic to our medical storm...a brief lull that we will definitely embrace!!