We took Jenelle this morning for her initial consultation with the Metabolic Specialist at CHOC. If you recall, Jenelle's Kidney doctor had continued to monitor her Metabolic Acidosis when she diagnosed it, even though it wasn't really her specialty. We finally decided to search for the cause of the acidosis, which led us to this referral. Jenelle was once seen by CHOC's Metabolic Specialist in January 2004 but his initial tests were inconclusive (surprise, surprise!)
We made the appointment for today back in November, and I had to complete 6 pages of medical history questions about Jenelle to send to them prior to today's appointment. We were impressed that they took the initiative to pull Jenelle's medical records on file with CHOC to review prior to our appointment today. As you can imagine, Jenelle's records are voluminous, so this spared us much of the time it can take to give a full medical history on Jenelle (and the poor child is only 4!) And still, the appointment was 2 hours long! Brett and I were quite pleased with the doctors and we felt the appointment was very productive.
They are going to order some tests for Jenelle including a basic metabolic panel and urine organic acids. They would also like to order some genetic tests including the basic FISH chromosome panel (DNA) test as well as check for something called "Fragile X". Sorry, I've forgotten what "FISH" stands for, but I recall we had it done when Jenelle was only months old to test for Praeder Willi Syndrome. I think it has something to do with mapping the chromosomes in her DNA. The results back then were normal (surprise again!) Jenelle has never been tested for Fragile X, and they say it is more common in boys than girls. Basically, it is where the "X" chromosome deteriorates or deletes through the generations, and if this gene is passed down the lineage, you begin to see mental retardation, some deformities and seizures.
The doctor agreed that we could hold off on Mitochondrial testing (which involves a muscle biopsy) and that we should only consider it if something came back in these initial tests to indicate Mitochondrial disease. The doctor also noted that Jenelle has never been tested for neurotransmitter disease (potential diseases and/or genetic conditions that inhibit the brain cells' ability to communicate with one another (transmit neurons).) This test would involve a spinal tap and a hospital admission. The doctor would rather do the least invasive tests first (the blood and urine samples) before ordering the spinal tap, and we agree. The neurotransmitter test may be something we will do in late spring.
Sometimes the hardest question we get from a doctor is "What do you want out of all this?" or "What do you hope to change?" The sarcastic answer that first comes to mind for me is "I want her to walk, talk, be normal, go to college, get married, have kids and win the Nobel Peace Prize!" (Doesn't every parent want that?) But obviously, we realize the point the doctors are trying to emphasize is that even if we ever find out what is "wrong" with Jenelle, there most likely is no cure, nor will it change her prognosis. We got this question today, and we gave them our usual answer. We want to know if there is something we can fix, or if there is something we have overlooked. Also, we'd like to see if we could reduce her medications in some way, and of course, we would want to know if this is something that could shorten her life. Brett and I realize that we may never know what is wrong with Jenelle. We may never find a name for it, and most likely there is no cure for it. We are not overly obsessed with an overwhelming need to find a name or exact diagnosis. We don't lose sleep thinking about it. But, if at all possible without putting Jenelle through too much torture, we'd just simply like to "know" why she is the way she is. Jenelle is thriving, is healthy and happy. Other than maybe wanting her to be a bit more "normal", we wouldn't change her for the world.
These tests and the results usually take a long time. We are scheduled to visit Dr. Shields at the end of February. Thank you for the continued prayers and support - I'll keep you posted with anything new.