Yesterday Rob took Lola to go see a new neurologist, Dr. Jennifer Zimmer, out of Riley Hospital for Children. You may remember, we were not impressed with the last neurologist and decided to find someone who showed a genuine interest in the care of our daughter. While I was not able to attend due to work commitments, Rob gave me a full detailed report of the appointment.
Dr. Zimmer began the appointment by thoroughly examining Lola. The usual measurements were taken (weight, height, head circumference) and then she took a close look at her spine, her feet, her abdomen as well as her eyes. She went through a detailed history of Lola’s background with Rob and asked numerous questions about her care in Costa Rica, the tests that have been performed, Lola’s seizure history and also her current medication list. After her questions were answered, she patiently answered my long list of questions I had given to Rob. She did not rush him and she did not seem bothered by the continuous questioning. She was calm, collected, knowledgeable and informative. She was exactly who we were looking for for our daughter.
Here are some topics that were discussed:
A Diagnosis: Apparently the reason why Dr. Patel never contacted us with an exact diagnosis for Lola was because the MRI CD from Costa Rica was difficult for the radiologists to read. I accept this excuse for Dr. Patel, but I am still appalled that even a phone call wasn’t place to tell us this news. Dr. Zimmer took the MRI CD again to try to get a better reading of it. She said if it was unreadable than perhaps she would order another MRI for Lola. But based on the images she saw, she leaned more towards an isolated lissencephaly diagnosis with a touch of pachygyria just as Dr. Luna did in Costa Rica. She explained that the lissencephaly diagnosis is gauged by how smooth the brain is whereas a pachygyria diagnosis is gauged by how thick the matter is. From the images she could see (so a preliminary hypothesis), she thought Lola’s brain was smooth in the occipital lobe (vision) and the gray matter was a bit thick in some areas. Regardless, it does not change her prognosis as each and every individual case is different. Our goal in getting a diagnosis is not to try to figure out Lola’s capabilities in life, it is simply to have an accurate term for her condition. Dr. Zimmer promised to follow up in the next two weeks regarding the reading of the images.
Seizures: Dr. Zimmer said Lola has a 50/50 chance of going on to have another form of epilepsy as she ages. There is simply no way to predict whether or not she will have seizures as it is a matter of how the connections in her brain are moving. If Lola is to have a seizure, it is not deemed a true medical emergency at this point. We are to contact Dr. Zimmer to determine a plan of action. If Lola were to have a seizure lasting longer than 5 minutes, we will be given a prescription for Diastat (valium) to be administered rectally during a seizure. Dr. Zimmer said seizures can come in many different forms so we are to keep an eye out for Lola staring for long periods of time, fixed pupils, twitches or shutters. Thankfully, Lola has showed no signs of seizures for almost a year except for one tiny cluster in October 2011 that we attribute to a very hot Costa Rican day.
Medication: Lola is to continue to take Trileptal 2ml twice a day until she is two years old or until she shows seizure activity. If Lola is seizure free then we will begin a slow wean off of the drug in which we already are as her dosage has not been increased since October 2011 even though she has increased her weight. Dr. Zimmer felt Trileptal was a safe drug to use and if anything felt the side effects were quite mild compared to many other anti-seizure medications on the market.
Development: Dr. Zimmer was quite impressed with Lola and her development. Obviously Lola is delayed, but Dr. Zimmer said the real advances in the development come from therapy, within Lola and the help from her attentive parents. She told us simply to continue with everything we are already doing as Lola is on a good path right now.
Neuro Tics: As of recently Lola has begun to exhibit signs of neurological ticks such as shoulder shrugging and head shaking. It is interesting because we kind of forget that she really does have a neurological condition. Obviously we know she does based on the developmental delays and the need for medical intervention, but she is just Lola to us and her normal is our normal. So when these tics started to appear, it quickly reminded us that Lola’s brain works in a unique way comparatively speaking. Dr. Zimmer said the tics are nothing of concern, but they may come out in many different forms. It is simply a way for Lola to stimulate herself and to provide her body with extra input. Often the tics happen when we are in a noisy environment or when a toy is quite loud. While we try to keep Lola’s world a bit quieter than most, she still has to be exposed to real life. So the tics come out and that’s OK. I know my leg starts to jitter when I’m anxious and my husbands feet seem to constantly move when we are watching a movie. We all have them, but we don’t notice them because most of the time nobody else does. Lola’s just happen to come out in a more obvious form.
Gene Testing: The one topic Dr. Zimmer contradicted Dr. Luna on was regarding if Lola’s condition was epigenetic (not passed down) or genetic. Dr. Luna felt Lola’s condition was a result of a migration disorder that simply took place in my womb. Dr. Zimmer is suspicious that Lola’s L1S1 gene mutation or deletion would have been inherited from an X chromosome. While we are not concerned with why Lola has the condition, we have decided to go through with the gene testing for a couple of different reasons. The first is we may indeed like to have another child at some point and the gene testing will help to determine if either Rob or me carry the L1S1 gene mutation. Would we have changed having Lola had we known? Absolutely not. But the gene testing will help us make an informed decision based on factual statistics. Another reason for the gene testing would be to help science learn more about Lola’s condition. Her DNA will be put into a national database that will help categorize the various degrees of her condition. I would never subject Lola to clinical research such as a medical trial, but I think a drop of blood could potentially help make sense of this condition and how it effects many lives in lots of different ways.
All in all, Rob was very pleased with the professionalism of Dr. Zimmer, but also the compassion she showed Lola. She was eager to see how Lola’s life would play out and voiced that she hoped to be a part of it. It was a relief to hear how well the appointment went and I finally feel my worried mind can rest a bit knowing Lola now has a neurologist who genuinely cares about her well-being.