UCLA here we come... Again...

As you know, we met with Dr. John Menkes on Thursday afternoon. Wednesday evening, I decided to “Google” the good doctor to learn more about him. We had heard many things, especially that “he wrote the book on metabolic disease”- come to find out, he really did write the textbook "Child Neurology" (now in its 6th edition) as well as a recent novel called “The Angry Puppet Syndrome” I was particularly fond of a review I found “blogcritics.com” of his new novel by someone with the handle “bookofjoe” who wrote the following review:

“Menkes is a pediatric neurologist at UCLA, famous for his discovery of Maple Syrup Urine Disease (you can guess the main sign), also known as Menkes' Disease or Menkes' Syndrome.

I was in his clinic one afternoon during my peds rotation at UCLA Med School, where some kid whose disease was undiagnosable was brought in. Menkes walked into the room with all of us med students, interns, and residents behind him, looked at the kid, asked the mother a few questions, wiggled the kid's finger and wrists, said, "this is a case of so-and-so," and walked out of the room.

We all went and looked up the disease, and damned if the kid didn't fit the picture perfectly. Something like 17 cases reported in the world literature up to that time. The classic absent minded-professor, Menkes seemed a little baffled and bewildered, with these thick glasses and a scraggly beard, but that's a big-time brain in there.”

As of Wednesday evening, Brett and I were convinced we’d found our “Dr. House!” I wish it ended that way, but unfortunately, we left Dr. Menkes office on Thursday with Jenelle having stumped yet another one of the world’s top Neurologists. Our visit was invaluable as he really took his time to review her medical records and MRI, however he said there was really no diagnosis he felt she had. He did suggest some new genetic tests we could run, and pretty much agreed with everything Dr. Shields has been saying about Jenelle. He believes that Jenelle’s brain has “developed” abnormally, which of course is causing her problems, but why we may never know. Dr. Menkes felt the Ketogenic Diet was our best next step.

Perhaps it’s my optimistic attitude and positive outlook on life, but I truly feel that this may be for the best. As long as there is no diagnosis that limits her life or limits her development, then really there should be nothing holding her back once we control her seizures! Without a definite diagnosis, her potential remains unlimited!

Today I took Jenelle to CHOC for her upper GI and Swallow Study. The Swallow Study results were good (we will have to wait for the GI results) – Jenelle is not aspirating when she drinks, however, as the test went forward and they checked how she swallows food, I heard the Occupational Therapist say, “Wow, that is really strange!” Apparently Jenelle does not swallow her food unless it is followed by a bottle, and/or there is too much food in her mouth to force it down! This most likely is a sensory issue that can be improved with more therapy. But, it is dangerous in that she could aspirate on her food. The OT was surprised because she said that usually a child with a good “suck and swallow” like Jenelle’s with the bottle of milk, should also know how to swallow food – even pureed food! OK, so should it really surprise me anymore when medical people tell me Jenelle is strange?

I spoke with UCLA this afternoon and we are on for Monday – however we still won’t know if a bed is available until we get there. Please keep us in your thoughts and prayers next week! Thanks so much – I’ll keep you posted!