Jenelle saw Dr. Phillips today for her follow up after the MRI. While we were hoping for some further explanation about the MRI results, and maybe some more answers, Brett and I left feeling more confused than we were before we got there.
The really great news (that we already knew) was that Jenelle's MRI was normal. While that doesn't explain the cause of her delays, it does answer a lot of questions to the neurologist, and rules out a lot of really bad things. Among the many things, we have ruled out stroke, brain damage, cerebral palsy and brain tumor. We realize that we are very fortunate to have such a great result. Dr. Phillips talked a long time with us about "further testing" and where we go from here. He believes there are a few more tests we can do to rule some other things out, but that Jenelle's situation might be a case where we may never find a "diagnosis". Also, at this point, any "diagnosis" is something that doesn't really have a cure, so we should continue as we are with the therapy as that is really the only thing that is helping. Nothing indicates that Jenelle's condition is life threatening.
Dr. Phillips explained that we should treat Jenelle like a "normal" child, and that she will be able to do "what we expect" of her. So, if we carry her around, and treat her like a child that belongs in a wheelchair, she will be a child in a wheelchair, and so on. He also said Jenelle was "going to be who she was going to be", which really didn't make much sense to us. I'm not sure if he was trying to give us a dose of reality, or trying to sugar coat the situation, but it was obvious he was trying to say that we may never know exactly what is "wrong" with Jenelle. Brett and I are fine with that, but we do understand how some parents feel in this situation, and how it would be better if we had a "name" for what is "wrong" with Jenelle. We want to do some more tests, but how far we will eventually go in that process we do not know at this time. We know that we are fortunate that Jenelle is happy, healthy, and very loved.
Dr. Phillips is going to run some more tests including genetic and metabolic tests to further rule out other possibilities. He is also testing for Prader Willi Syndrome, a specific chromosomal disorder that effects the hypothalamus in the brain. He told us not to research it or worry about it (yeah, right) as it was just something he wants to rule out. They had to take blood and urine for the tests, and that was quite an ordeal that took all day. For her blood test, they had to poke her twice (tough to find a vein on her chubby arms), and took 7 small viles of blood. She was such a trooper, and handled it well without any anesthesia. Obtaining the urine sample was another difficult task in that they had to apply a "bag" to her and hope that it would catch her urine in her diaper(I would assume this is easier for little boys.) When I brought in her first sample, it wasn't enough, so we had to wait another couple of hours to get some more. Eventually we got enough for the lab - but it wasn't easy trying to make a 9 month old "pee" on command!
Jenelle's next appointment with the Neurologist is in 4 months (November). Jenelle is really doing well in her physical therapy, and may be starting occupational therapy in the next few weeks. That is encouraging!