We met with Dr. Ben-Ezer, the Kidney Doctor at CHOC for 3 ½ hours yesterday. Overall, I was very impressed with this doctor. If you recall, Dr. Shields had already faxed a letter to Dr. Ben-Ezer detailing his concerns. Prior to our appointment, Dr. Ben-Ezer pulled all of Jenelle’s labs (dating back to 2003) and reviewed all the numbers. Right from the start she said she did not think Jenelle’s bi-carb issues were related to her Kidneys. She determined this by comparing her average bi-carb level to something else called an “anion gap”. However, there were some weird findings of the bi-carb levels even when she was on a maintained level of Topamax, so she wasn’t sure the Topamax was causing the problem either. She asked if we had ever had a “blood gas” test done and we said no, so she said she could run it right there in the room.
First the doctor did “a blood gas” test on blood taken from Jenelle’s finger (just a prick.) The readings (the specific numbers of which I can’t recall, but it included things like CO2 levels and PH levels) indicate that Jenelle has “Metabolic Acidosis”, but that this Metabolic Acidosis is not caused by her Kidneys. The blood gas test further showed that Jenelle’s kidneys and liver functions are normal. Jenelle has always had very blue feet, and upon seeing them, the doctor ordered a second “blood gas” test taken from her toe to “prove a point.” Obviously, the levels from this test were even worse confirming her Metabolic Acidosis. Just to give you an idea… the oxygen level in the sample taken from her hand was 63% (which isn’t great), and the oxygen level in the sample from her foot was 36%. Dr. Ben-Ezer prescribed a bi-carb supplement for Jenelle and wants to see her in a month, but after that, she thinks we need a Rheumatologist. I have no idea why we need a Rheumatologist, other than Dr. Ben-Ezer works with kidney problems, and this isn’t one!
So, what is causing this Metabolic Acidosis? Unfortunately, we don’t know. Dr. Ben-Ezer said, “its like what came first, the chicken or the egg? Here we’ve found the chicken, we just need to find the egg. Will Jenelle be able to go onto the Ketogenic Diet? We don’t know, however I personally know of two children who tried the diet but were taken off because later they were diagnosed with Metabolic Acidosis. Dr. Ben-Ezer plans to call Dr. Shields today to discuss her findings. She did however tell us we could proceed with the diet without waiting for the findings from the Rheumatologist – so that is hopeful.
As a follow up, I wanted to point out a couple of things from my last update about Dr. Dravet. As I’ve been mulling over all the information from this past weekend, I’ve noticed two things: First, I personally think there were some “language barrier” issues. When Dr. Dravet said Jenelle did not have Epilepsy, it is my feeling that in Europe, Neurologists only think that Epilepsy is when seizures only come from a problem with the brain. In the United States, seizures and Epilepsy are usually synonymous – if anything for the sole purpose of taking the stigma away from the word Epilepsy. So, according to US Neurologists, Jenelle has uncontrolled seizures of an unknown cause that is also known as Epilepsy. The second thing I noticed is that the Health Insurance Industry really dictates how U.S. doctors can practice medicine, and in reality, how doctors diagnose problems. Dr. Dravet said that in France when a child is referred to a Neurologist, they immediately run all tests including MRI, EEG, metabolic panels and chromosome panels. In the U.S., you have to have a reason to “suspect something” before you can “order” the test. Because their hands are so tied, US Doctors literally take a shot in the dark hoping they will find the answer by chance. We definitely need a call for better health reform.
One last thing –I wanted to give an update on Jenelle’s friend Lily. Unfortunately, even after brain surgery, Lily continued to have grand mal seizures, almost as bad as before her surgery. It was so heartbreaking to hear. As a last resort, her doctor felt they needed to try Vigabatrin – a drug Jenelle had some success with that we had to purchase from Canada. Lily’s Mom is concerned with the risk of vision loss as a side effect, but was willing to give it a try!. We had a lot of Vigabatrin “left over” from when Jenelle was on it, so I sent what we had to Lily’s Mom last week. Lily started it last Thursday, and they haven’t seen a grand mal since! (Knock on wood – us seizure Moms are superstitious!) Lily's website has moved, so here is the new link in case you’d like to check on Lily (and her cute little sister Andi) from time to time. We are definitely saying prayers that the Vigabatrin is the answer for Lily!
Lily's New Website!
Thank you all for your thoughts and prayers for Jenelle. At this point, we need to meet with Dr. Shields again and discuss where to go from here! I’ll keep you posted!