Tuesday, August 5, 2014

It's been awhile!

Once again crazy life has detained me so it's been awhile since my last update. Many new things and many things remain unchanged. The good news is, Audrey has only been inpatient once since my last blog! She went 90 days to the date! That's the longest she's been out of the hospital since January 2012. This is definitely a trend I hope will continue.

Medically, she's not doing better. We have been able to do more at home to keep her here rather than in the hospital. It's a lot more work for me but so worth it to keep our little family together!Audrey's doctors are, as usual, pushing the envelope of treatment for her. Her amazing genetics doctor is challenging himself to find ways to help her and other patients with her genetic mutations. For the moment we have stalled because we have tried everything, even the "in theory this may help" but I know the science will come up with something soon.

Audrey's endocrinologist has also been hard working. She has thought "outside-the-box" for Audrey and she is now using a insulin pump to deliver continuous hydrocortisone to treat her adrenal insufficiency. We found out through labs that Audrey metabolizes cortisol about twice as fast as most people. This made her management very difficult to control. Since starting her pump though, she has been doing much better! We are so happy to be finding these small things which dramatically improve her quality of life.

And lastly, her GI doctor. He works tirelessly for Audrey (and his other patients) trying to manage her GI system. Unfortunately she has complete failure right now and while we hope to improve this, no one has yet seen any of the children with her mutation improve their GI function. This is a very hard pill for me to swallow. I am hopeful that they will find something to help her but I am realistic enough to know they likely will not. That being said, at least the surgeries she underwent last year have kept her out of the hospital. We had hoped she would be able to tolerate more formula after her ileostomy but that is not the case. What her ileostomy has done, is allow her to stay home and prevent the massive abdominal distention and pain she was living with last year. Last year she was inpatient at least once a month, usually for a bowel clean out and now we are able to avoid that. That alone makes the whole surgery worth it. Like her genetic treatment, we are just about at the end of the line for options for treatment of her go failure at her age. As she gets older additional medications may open up (ones that are approved for adult use only) or we may go the route to try some under compassionate use, though the risks and benefits will have to be carefully weighed. If there is one miracle she needs most, this is it.

Speaking of getting older...guess who is turning 5 soon?!?! I can't believe she is one month from being a 5 year old. Everyday that I see her grow and develop and learn new things is such a miracle because I know how precarious her life is. I have loved seeing her push her self the last few months to do what she really wants to do which is ballet. Last year when she started asking to do ballet, there was no way she would have been well enough or out of the hospital long enough to try. Now she takes a toddler class twice a week and while its hard on her body and takes a lot of medical prep work on my part to get her there, she's so amazingly happy I would move heaven and earth to be sure she gets to go. I can't wait to see all that she will continue to accomplish! Keep it up my girl!

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