Monday, December 29, 2008

Merry Christmas to all and to all a good night's sleep!


What a whirlwind of a week we have had! Last week at this time I was running on adrenalin, shopping, cleaning, wrapping, organizing, scheduling, cooking....Merry Christmas to all and to all a good nights sleep! This morning I slept in until 10:30, of course not without waking every four hours, feeling more tired than ever! I was only able to do this because Drew took off this week for a vacation at home! We love vacationing at home! The accommodations are great! Yesterday our entire family spent the day in our pajamas playing with all the new goodies that Santa delivered! I knew that Jack's Nintendo DS was going to be just as addicting to him as it is to Drew and I. Our conversations about the game Mario Kart sound as serious as our conversations about the worlds problems, it's ridiculous! Don't worry Grandma, we are going to set some limits soon. Megan and Sophie have been busy playing Christmas for the last few days. If you can't find something in our house right now you need to ask one of them as they have probably wrapped it in paper and placed it under the tree. As for Lucy, it was like a Where's Waldo game on Christmas morning. Lucy had fun crawling through the sea of presents and wrapping paper, it was hard to see her at times. We had so much fun visiting with family, the time went by so quickly! We are trying hard to keep the spirit alive this week as we enjoy some time as a family reflecting on the last year and looking forward to the new year.

On a different note, last weeks appointment with Lucy's metabolic doctors was frustrating for many reasons, but mainly because there is still so much uncertainty! Drew and I agreed to participate in the research study which will look at Lucy's DNA as well as ours to determine if she has the gene for SCHADD. We also had labs drawn to look at Lucy's growth hormones. These were the labs that the Endocrinologist wanted done the next time she was having blood drawn. The results for these labs won't be back for several weeks to several months! Also we added Pulmonology to our list of specialists because apparently the Cystic Fibrosis (CF) door can not be shut! Lucy and I are carriers of the CF gene, Drew passed a screening for the the CF gene but never underwent further testing as there are hundreds to thousands of possible gene mutations for CF and it was never warranted. Now we are needing to look closer at Lucy to see it she has two pairs of gene mutations for CF, you need to have two pairs in order to have the disease. Many of Lucy's symptoms resemble the symptoms of a patient with CF; however, Lucy has not had any upper respiratory issues. We are learning that not all CF cases have upper respiratory symptoms. Lucy did pass the sweat test for CF in late June, apparently that does not mean much when you look at just her symptoms. Because of our amazing Pediatrician, we were able to get her in to see a pulmonologist at DuPont on Friday of this week. Hopefully, we can "shut this door"! We were hoping to get a week off from any doctor appointments, but are happy that we got in so soon to see the pulmonologist. Despite our frustrations, we are continuing to do all that we can to treat Lucy's symptoms. The consensus from our Christmas guests was that she looked so much better than she did in October/November. Drew and I agree, but at the same time we are still so worried.

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