Lysosomal Panel

Some good news.......we just received word that her Lysosomal Panel came back NORMAL. Lysosomal storage diseases are genetic disorders resulting from mutations in genes coding for proteins involved in the degradation of normal body compounds, including lipids, proteins and complex carbohydrates. While most lysosomal disorders are caused by defects in genes coding for enzymes, some are caused by defects in genes coding for transport proteins, activator proteins, protective proteins or enzymes involved in the processing of lysosomal enzymes or substrates. The lack of one of these proteins leads to the accumulation of undegraded compounds which can disrupt the normal functioning of the cells involved. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).

We are keeping our fingers crossed for more good results.

Talk to you soon!

Chromosome 9

Hello everyone. Well, word is spreading about what is going on with our Jill. And frankly it is becoming a bit easier to talk about. For a while there I was in a haze - and feeling like it was a dream. Last week was a rough week. We are very optimistic and praying for a miracle. Jill is a tough little kid - and she'll be fine.

Debbie received a call from the nurse today who informed us that there is a Chromosome 9 abnormality - or an additional DNA gain. For example, if the pattern was supposed to be ABC-ABC-ABC-ABC, Jill's is ABCC-ABCC-ABCC. We're not exactly sure what that means.......but they are not finished with all the testing yet. In fact, it will most likely be several weeks until all the genetic testing is completed. In the meantime, we are living our lives as normal.

Feel free to post comments or send us messages. I'm still trying to figure out this BLOG thing myself. Thanks to everyone for your support and prayers. We appreciate it more than you will ever know.

Talk soon! Kurt & Debbie

What We Know

Jill has been diagnosed with something called Childhood Ataxia with White Matter Disease. If you look it up on the internet you will see many different types or strains of this disease. It's very complex. It is also very serious. White Matter in your brain is what basically controls your motor functions, vision, speech, thought process, etc. Those of you who know Jill will understand now why she acts a certain way. She tends to be a bit clumsy, she wears glasses that are stronger than mine, and she tends to have some difficulty expressing her thoughts. Now we know why.

Jill was thought to have ADHD which was diagnosed back in 1st Grade due to her lack of attention during class and going off-task. That has since been debunked. It is and never was ADHD.

April 15th, 2010

This blog is about our 9 year old daughter Jill - who was recently diagnosed with a form of White Matter Disease. I will be adding more information and details as time permits.