Elena and Danielle
I have two sisters. That's Elena there are on the left, and Danielle over on the right. They're really very special people.
Both of my sisters have a rare genetic disorder called Argininosuccinic aciduria (ASA). When my older was sister was born back in 1981 only 1 in 1,000,000 were diagnosed with the disorder in the United States, and since my younger sister 's birth in 1987 it's been 1 in 70,000.
Basically ASA is a defect of the urea cycle that causes ammonia to build up in the blood. This build up can become toxic if a high enough level is reached. High blood ammonia is probably the number one cause of my sisters' many hospitalizations throughout the years. To combat their ammonia level, my sisters take arginine supplements three times a day. Without this their blood ammonia would soar and they could potentially go comatose (which they both have on more than one occasion). In addition to the arginine, my sisters are required to be on a very low protein diet. My mom has mastered measuring, weighing, and calculating the grams of protein they ingest on a day-to day basis.
While ASA has a common set of symptoms for the purpose of diagnosis, the level of mental and physical disability that accompanies the disorder varies from case to case. My sisters' levels of functioning are very similar to one another; both have severe MR and require assistance and supervision with most daily living skills. Unfortunately, both of my sisters also have seizure disorders that they developed at different times of their lives. So in addition to the arginine, both of my sisters take seizure medications as well.
At this time my sisters still live at home with my parents, and they participate in a day hab program with AHRC. They are both ridiculously spoiled and are probably more active with extracurricular activities than I ever was. I think they are really getting full enjoyment out of life.
I would love to say that at this time they are both thriving and maintaining their health, but that wouldn't be completely true. Elena (knock on wood) has been doing pretty amazing quite consistently for several years and seems to be well-managed on her current medication dosages, diet, etc. Danielle, on the other hand, has been good, then not good; bad, then really bad; over and over for the past few years. In fact, in the Spring of 2008, we all really thought for a moment we were going to lose her. Obviously and fortunately we didn't, but she's still struggling to find a happy baseline. My family continues to work with a very knowledgeable and supportive care team with the hopes of enhancing both of my sisters' physical well beings.
As for now, at the end of the day, both of my sisters seem happy and productive ... so really, whatever happens next is just that ... No sense in ruining the now, worrying about the later.
