Home Sweet Home!!

Hey Team:

Kat and I returned to Lubbock on Saturday...5 weeks after heading to Houston in search of medical answers. I thanked God as we pulled into the driveway together...something I wasn't sure would happen the day we left for Houston!!

We received long awaited news on Wednesday, March 10th that Kat has 'pancreatic insufficiency' which is the cause of her malabsorption and failure to thrive. Her pancreas is not producing enough enzymes to break down food for absorption; and specifically high fat foods.

The gastro doctor suggested that we run bloodwork for a rare disorder called 'Shwachman Diamond Syndrome'...try saying that fast three times! I will refer to it as SDS. It is a genetic disorder where the parents are both recessive carriers of the gene mutation. It is the second most common cause of pancreatic insufficiency after Cystic Fibrosis. We have another two weeks of waiting for the test result, but in the mean time, we have begun enzyme treatment.

If the test comes back 'normal', the doctor might suggest a biopsy of the small intestine. However, she stated that if Kat responds well to the enzyme therapy, there would be less urgency to proceed with the biopsy. We pray that Kat does NOT have SDS b/c there are some very serious hematological issues inherent with the disorder, namely Leukemia, but also skeletal issues similar to dwarfism.

The most worrisome piece of Kat's symptoms is an outbreak of pinhead sized red-speckled dots under her skin called 'Petechiae'. Several doctors have examined her when the specs were present, but the blood work continues to come up 'normal'. The petechiae could be explained by the hematological problems associated with SDS, but at this point, no one can explain it.

We are in the process of getting our bearings and returning to some level of 'normalcy'...whatever that is! Kat returned to her school today for a few hours in an effort to transition her back to a schedule. Her friends greeted her with curiosity and her teachers were thrilled to see her;-) I made my way to campus and worked for the first time in several weeks. I know it will take time to be clear headed after many sleep-deprived days and loads of stress, but it was nice to return to my office.

Ultimately, Kat is my hero! I am amazed at her strength in light of her body's limits. Over the course of the last few weeks, she has learned to sit up from a lying down position!! You will have to see it in person, but it is definitely her creation. She pulls her knees into her belly, then pushes her hands towards her feet and pops upright;-) The best part of her ongoing development is the addition of the word 'ma ma'!!! I've waited 21 months to hear those words, and they melt my heart<3

After giving blood on March 10th, we headed to San Antonio where I was scheduled to present my research on resilience in families raising a child with Down syndrome. It was wonderful to meet other people who have been touched by DS and hear about their journey. Kat didn't meet a stranger during our time at the conference...she waved at anyone who was looking;-)

I can't thank our friends and family enough for the numerous prayers, emails and phone calls during this time. We are grateful for your love! I will post more as things progress.

Blessings to all,
Nicole