A Little Protein Changes The World

We reviewed Macayla's genetic results today with the doctor and it confirms how complicated this disease really is and how difficult it is for the medical community to really define and classify it. Macayla does not produce enough of a protein in the lysosomes of her neurons (brain cells) and this means that the lysosomes can't get rid of certain waste products from the cells so the cells become damaged. Thus, her brain is deteriorating. I began to think about the actual size of the lysosomes in her cells. Basically, these lysosomes are microscopic trash cans in Macayla's cells and are unable to do their job and it has devastating results. These microscopic trash cans don't work because an even smaller part of her body, a gene, is mutated at one point. I don't know enough about DNA and genetics to do it justice, but my understanding is that there is a mutated part of a DNA molecule of a gene on Chromosome 1 inside the nucleus of the cells of Macayla's body. We're talking about something that is tiny, as in molecular, and it causes all of this! It is amazing to ponder how we are fearfully and wonderfully made.
In order for Macayla to have the disease, she had to get two copies of the mutated gene, one from me and one from Jennifer. One of her copies has a type of mutation that is more common among Batten's patients. The other copy she has is more rare. The good thing is that the more rare mutation is associated with some enzyme activity. This simply means that she may be producing some protein that helps the trash cans do some of their job, but it obviously is not enough to do the whole job. We also learned that there is no real clear-cut way to predict her prognosis. Other children with similar combinations of mutations had varying ages and symptom onsets. The other trick to this according to the doctor is that we are not really sure how other proteins being produced in the body may modify the progression of the disease. Each Batten's kid is really unique in their progression and prognosis. We will draw blood on Jacob and Jennifer and I to have it nailed down as to which mutation I have and which mutation Jenny has and see if Jacob has either.
We have been taking Cystagon for a week now and we are tapering her dose up over the next few weeks. She is taking it quite well, but it is powder that smells like old, boiled eggs. Old because there seems to be a hint of sulfer in the aeroma. YMMMMMM! Luckily, the taste and smell seem to disolve well in certain types of food such as applesauce and tomatoe sauces and this helps since she has to take it four times a day. We thank God for the strength he has put in Macayla to deal with all of this.

Medical Update July 14th

Macayla's genetic workup is back. We will go in next week to get more details, but the gist is that she has both copies of the CLN 1 gene from Jenny and I but each copy is mutated in different places. This means that Jenny and I carry two different mutations of the same gene. This helps us in isolating Jacob's genetics to see if he carries either copy or none or, God forbid, both. The genetics are very complicated and we hope to have more info next Thurs. We will also be meeting with the surgeon at the end of the month about having a feeding tube inserted. Mac's swallowing is hit and miss more often and the meds she takes often smell and taste awful. When swallowing is tuff already, it doesn't help to throw in something that tastes so bad it could make you gag all by itself. She will continue to eat even with the tube, but it will be mainly to ease her daily life on taking meds and will be a back up if she has a hard day swallowing food. It will be a full-time necessity eventually. Considering all, she has been the best patient and has really been tough.