The Crook Family: Surviving Genetic Disorder

One of the biggest challenges my son and I face living with a Urea Cycle Disorder is keeping a balance with diet, medication, and health. It is akin to being a tightrope walker going across a canyon -- and keeping your balance pole steady. There has been some cognitive deterioration and mild brain trauma for my son, it was as a result of being in a hyperammonemic coma. Myself? From the decades of being undiagnosed, I also have some issues cognitively but am able to be productive.

Originally, during our crisis in December 2003, our son was misdiagnosed with Reye's Syndrome or Meningitis... he would not be alive today if it were not for a veteran Pediatric Neurologist who recalled back to his medical school days that this might be an Inborn Error of Metabolism. His hunch was correct and many months later, it was officially diagnosed by March 2004 to be an Urea Cycle Disorder.

Being hypervigilant against viruses, sticking to a low protein diet, and other daily stresses is part of the plan to keep your footing while on the tightrope. I would say since our 2004 diagnosis we both are now confident with sick day protocols, working full time, going to college, and not letting UCD win the battle. One huge help in our daily walk has been Ravicti. We are very appreciative of the grant from Good Days from CDF for obtaining Ravicti at an affordable cost.

My son and I participated in an Awareness Video for the Good Days from CDF's Annual Fundraising Gala at the Gaylord Texan Resort this past September 2014. Truthfully, our story is much more complicated than the brief YouTube video. However, it does illustrate the need for physicians to learn about our rare (genetic) disease.

Calling All Runners!

If you’re a rare disease patient or patient advocate who is passionate about helping patients with undiagnosed diseases, we have an opportunity for you!

The Genzyme Running Team has posted information for those interested in getting involved in the team's activities to support NORD's efforts to help undiagnosed patients. Read about how you can get involved.

Crunchy Chicken Salad

Do you find yourself wandering the produce aisle and try to figure out how to use the pre-packaged veggies?  

Need some ideas?  Never fear... we have some dinner tonight!

My Hand Quilting Project

     At my Quilt Guild club meeting, Cindy Blackburg was our guest speaker.  We loved hearing hearing her stories, seeing her beautiful quilts, and shopping afterwards.  I was intrigued by her stamping template method for hand quilting and decided to buy her Log Cabin pattern, stamp and ink pad set. 

     I have to confess that I have been collecting a large amount of (Moda) Barbara Brackmann's Reproduction Civil War fabric since 2002.  Eeeek.  Guilty of an "Obsessive Crafting Disorder".  And truthfully, this Log Cabin project was a great excuse to finally use up my stash.