2/15/09 - A Day of Rest

Today provided Alyssa with a much needed day of rest. Just being at home seemed to give her spirits a big lift! No PA announcements, ringing monitors or questionable food. Mom & Dad kept track of BP, which was was great all day. What a nice feeling to be able to report a total lack of activity.

A brief word on the discharge process - We're not quite sure how seniors or those living alone can get through all of this without help. Alyssa is taking 10+ medicines, so she may not be the best example, but between going through the discharge instructions, filling the prescriptions and setting up a daily schedule, this became a very time consuming and confusing project. We ended up creating a spreadsheet in Excel which helps us better track all the elements of Alyssa's care. But it is a very fluid process, especially when you are trying to control blood pressure. The timing and dose of the meds are constantly changing - if her bp drops too low we back off on her next dose; too high, we move up the timing, which then changes the whole timetable. It's a challenge, but one that we embrace enthusiastically!

Alyssa started off her day by going to Greece Baptist Church's morning service. She was recently baptized there along with her brothers, Ryan & Kyle. For varied reasons, the three of them did not complete the classes at age 14 which is the typical timing. Pastors Steve, Bob and Sarah have visited with Alyssa in the hospital and many members of the congregation have followed her progress through this blog. Sarah was surprised and delighted to see Alyssa walk into the service (late of course;) recognized her presence and gave thanks for her incredible progress. It was a special moment for all of us!

Yesterday we promised a word on the diagnosis process. Based on all data received to-date, Alyssa has been tentatively diagnosed with Hemolytic uremic syndrome (HUS) a disease that occurs primarily during infancy and early childhood. It is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Alyssa's is called Familial, Atypical HUS, which affects less than 10% of all HUS patients. It is largely due to mutations in the complement proteins factor H, membrane co-factor protein and factor I, leading to uncontrolled complement system activation...basically, she has a defect in her complement gene. As mentioned before, this disease normally strikes kids under the age of 10; rarely in the teens and almost never beyond 20. To say that Alyssa is in rarefied air would be a gross understatement. Some reports state there are as few as 300 - 600 cases within the USA. And almost all of these involving children under 12. Alyssa did find a 28 year old patient living in Arizona and has begun communicating with her.

The way her hematologist, Dr Kouides describes it, Alyssa had to fall victim to the perfect storm - just the right mix of circumstances to "tip her gene" and cause her to fall ill. The fact that she made it to age 21 before becoming symptomatic can be looked as a positive sign for her relative to relapses. It may be another 20 -30 years before she experiences a potential relapse or maybe never.

We are a generation that now runs to the Internet to uncover information on every topic of interest. The information you will find relative to HUS can be very frightening. With so few impacted by this disease, information reported isn't necessarily the most current and at times inaccurate. It is a nasty, nasty disease, but Alyssa has defied the odds and beaten it so far and we expect nothing less than more of the same from her in the future.

There is no real way to predict what the future will hold for Alyssa. The genetic testing that she is currently undergoing may shed more light on this topic along with the exhaustive research that Dr Kouides and his colleagues from throughout the country have put into her case. It may or may not confirm the diagnosis. For now, we will take it one day at a time and celebrate each step forward. Alyssa wouldn't have it any other way!
dd