Lola was diagnosed with Cyptogenic West Syndrome or Infantile Spasms on April 28th, 2011. You can find out more about the condition here. It is described as a “catastrophic form of epilepsy”. The West Syndrome is a combination of three elements, but one element may not be present: infantile spasms (which Lola has), an abnormal EEG (Lola’s EEG was slightly abnormal because the condition is in the beginning stages) and mental retardation (Lola is far from mentally retarded.) She is highly intelligent and shows no signs of retardation. Now because Rob and I didn’t wait to see if it “got better”, her prognosis may be better than most. We will warn you that the information given on the Internet is nothing short of depressing. We advise that you just follow Lola’s own journey rather than putting her in the dire categories that you read about on the Internet.
Two weeks before her diagnosis we began to notice a strange tick that Lola had picked up. Her eyes would get very still, her legs would seize up and her arms would fling up in the air bending at the elbows. I kept telling Rob that it looked like she was having a seizure. These movements would happen in clusters sometimes up to 30 times in a row. She did not look like she was in pain, she didn’t cry, she just sort of looked dazed. You could not distract her attention until she snapped out of it. She exhibited this behavior for a couple of days and I just had this sick feeling in my stomach that something was not right. Rob (being the rock in this family) told me to find a new pediatrician – one where there would be no language barrier. This was decided on Sunday. At about 3:50 am on Monday, Lola began to seize again. I couldn’t sleep the rest of the morning, so I began to Google and I was shocked with what I had found.
We all know that Google can be quite beneficial and we also know it can be quite detrimental. What I found was a YouTube video of a baby exhibiting the exact same signs as Lola. I frantically ran out to the laundry room where Rob was and began to shout “I found it” all while crying at the same time. What I had found was something called Infantile Spasms or West Syndrome. It had to be some of the most depressing information I had ever read. Part of me was glad that we could go to the new doctor with this theory, while the other was petrified as to what would happen to my baby. This little girl is my life just as she is Rob’s too.
We wrote to Dra. Liana Castro on Monday morning explaining what our theory was. She advised us to come in that day at 5:00 pm. We brought a video of Lola seizing, but it was not needed as she seized right before the doctor’s eyes. Dra. Castro’s face looked grim, but other standard tests were applied. The most noticeable was that Lola could not follow an object with her eyes. She would look everywhere but in front of her. The doctor tried the test with several different toys, but she would not make eye contact. Again another grim sign. Rob and I had noticed that Lola wasn’t making eye contact for a while now. We just thought that she was behind in developing that skill. The doctor was also concerned about Lola’s lack of weight gain. She is as long as a five month old, but as heavy as a two month old. She immediately began to come up with a plan. First and foremost was to get Lola in ASAP for an EEG of her brain patterns. While we still did not have an actual diagnosis, I just knew in my heart that Lola had West Syndrome. She had every classic symptom. The seizures began while she was beginning to dose off to sleep, when she would wake up, or when she was exhausted. Her eye contact was no longer there. And when she ate she would often flex away from the bottle in protest. While I wanted to have faith, I had my own instinct that this was it.
But then on Tuesday we were given a glimmer of hope. Lola went in at 2:00 pm for her EEG. She was given something to help make her fall asleep. After she began to doze off, 24 tiny electrodes were put on her head. To say this was my weakest moment as a mother would be an understatement. I cried as the test began. My mother stayed close and kept reassuring me that she was in no pain. Because of our job, Rob was forced to continue running the business. Though he didn’t say it, the desperate look in his face led me to believe that that was his weakest moment as a father. Lola stayed asleep for the first five minutes (the test runs for 25 – 30 minutes), then she woke up as she began to seize. Now I will say these are not violent seizures. Most wouldn’t even think she was having seizures if you didn’t know her. As she woke, she began to rip off all of the electrodes. We would have about another half an hour to get her to go back to sleep or we would have to come back the next day. Thankfully, after about fifteen minutes she fell back asleep. The electrodes were put back on and this time she slept through the entire test. The hope we were given was that the technician (even though she wasn’t supposed to) kept telling us that the EEG looked normal. She emphasized how crazy the brain pattern is of a West Syndrome patient and Lola was not showing those signs. Rob kept reminding me not to trust the technician as she was simply a technician and not a doctor. We were told we would have the results by Wednesday early afternoon.
After another sleepless night, I began to panic… literally. I was trying to stay strong for my little girl as well as for my husband, but I was cracking at the seams. I emailed Dra. Castro five times. I called her office. I paged her. I called the neurology department. I tried everything I could to get those results. By 6:00 pm that night I had my second panic attack of the day. Rob gave me something equivalent to a Valium and we just talked about all of the scenarios. Good and bad. He has been our rock throughout this past week. He has never downplayed this. He has never told me I am a crazy mother. He has never told me to just get a grip. He has been so unbelievably supportive and I am shocked that he has not thrown my crazy ass over the canyon yet. I don’t want the spotlight on me. Lola is the one who needs our love and support, but my God this is the hardest challenge I have yet to face. She is my baby. She is my life. That night we realized that we would not be getting any answers, but at around 8:00 pm Dra. Castro called with some news. She said that the EEG was slightly abnormal, but Lola needed to get in to see a pediatric neurologist immediately.
On Thursday morning, we were determined to get Lola in to see a pediatric neurologist. I emailed our OB-GYN, Dr. Nisman to get his referral, but had not heard anything. Dra. Castro was to email me her opinion, but again we hadn’t heard anything. I took matters into my own hands as I knew every day that went by meant that she could potentially get worse. The thought of her regressing was enough to kill us – to not see her beautiful smile, to not see her thrive. These images are a parent’s worst nightmare. I finally found a doctor who could get her in at 3:30 pm. Rob had to take a couple of clients to an appointment and he would meet us at the hospital thereafter. My mother and I took Lola to the store and we were told that her EEG results would be ready for pick-up. But just as we were leaving the store, Dr. Nisman called. He said he made Lola an appointment with Dr. David Luna at 11:45 am. It was 11:15 am and we had already made her an appointment with someone else. What to do? I truly believe this was a defining moment. I asked Dr. Nisman if he was the best and he said “yes, without a doubt”. So off to San Jose we would go. We knew nothing about this doctor, but we trusted Dr. Nisman and thank God we did.
I had an inkling to bring all of Lola’s diagnostic reports as well as her health book. I gave all of this to Dr. Luna as well as the video of Lola seizing. As he was getting ready to watch the video Lola then began to seize. He observed her, then watched the video for less than a minute and said she has “infantile spasms”. My heart sank, but I knew this was coming. I felt it. I wanted to be optimistic, but I just knew. Dr. Luna asked some questions and took a look at Lola. He said she looked good, but noted her eye contact was non-existent although she showed no signs of mental retardation. He began to teach my mother and me about the condition. He said her prognosis would be good if her CAT scan showed no signs of malformations or lesions. We asked about how often he sees patients such as Lola and he said VERY often. He went on to tell us that he has sort of become a specialist in the disease and this was like music to our ears. We knew we were in the right place. Dr. Luna wrote us a script to get Lola a CAT scan immediately. Within a half an hour we were at the imaging clinic and Lola was on the table. She was incredibly tired so there was no need to give her medication to hold her still. She was laid down on the table and I was suited up so I could stay in there with her. She did well, but then woke up to a seizure. My mother rocked her and eventually she was laid back down (again without medication). She slept through the entire exam. She was such a strong and brave little girl. She never once cried despite all that she was being put through. We only waited five minutes and the images were in our hands. We raced back over to Dr. Luna’s office only to find his office was now full. The next minutes felt like an eternity. I asked the receptionist how long before we would be seen and she said there was another family in front of us. We knew the results from the CAT scan would help determine Lola’s future. But Lola was giggling and practicing holding her head up. She was just the distraction we needed. But just then the doctor came out, held up the images in the light and said that there were no malformations, lesions, tumors or large epileptic foci’s. My mother and I burst into tears and the entire waiting room began to clap and congratulate. Finally, a bit of good news. I think I hugged the air right out of poor Lola. Now I am not an incredibly religious person. I believe in something although I don’t know quite how to define it. But over the past few days, I prayed, I begged, I tried to make deals asking God to harm me, but not my daughter. I asked my dad to work some magic up there as I rubbed the cross he once wore. This situation was out of our control and at that point all we could do was to have faith.
Dr. Luna called us in to go over the images. He said that Lola has a little tiny epileptic foci. He described it as going to a rock concert. You have the lights, the stage, the audience and the band. But when one of those elements doesn’t show up, it makes the whole rock concert bad. This is what this foci is doing in Lola’s brain. Now this isn’t to say that she is becoming mentally retarded. It’s just saying that all of the pieces aren’t quite connecting just right. Now the longer the seizures go without treatment, the more apt she is to have developmental issues. It is as if the brain gets placed on hold when the seizures take over. So what was the plan? He put her on a steroid for the next month. It starts out heavy for the first two weeks and then we will gradually wean her off the drug. She is not to be in contact with anyone except for immediate family and close friends. She can’t go out anywhere unless she stays in the car. She can’t be in contact with children or anyone that is or may have been sick. She is susceptible to infection during the treatment and it is important that she stay healthy. We are to document all of her seizures, her side effects and her development. He said that if she responds to the treatment she could make eye contact in as little as one week. The side effects of the drug could include extreme irritability, hunger, bloating and crying. Those symptoms seem like nothing considering what we have been faced with. We are to e-mail him every two days with updates about her progress or lack thereof. He cannot guarantee that she will respond to the treatment, but because the disease was caught extremely early, because she still shows signs of normal development and because her CAT scan looked good, he has reason to believe that she will overcome this. She will go in for another EEG in one month. If the EEG is normal and she is seizure-free than it means the drug worked. If not, then we must start a different kind of treatment. Most children with infantile spasms will go on to have other degrees of epilepsy. If she stays seizure-free than that means she has a good chance of overcoming this disease altogether.
You know, Rob and I have been trying to figure out our purpose here in Costa Rica. We are beginning to think that we were placed here so that we could afford to take care of Lola’s condition. While she was able to get in the CAJA (public health insurance) for free, time was of the essence. So far her medical bills have been around $500. This includes the doctor visits, the medication, the EEG and the CAT scan. Obviously we would have insurance in the States, but who knows what the co-pays and deductibles would have been. Also, each day that passed would have been one more day for her to regress. I cannot express the urgency in getting this condition medicated. The quick action of the doctors and the clinics may just give us our healthy girl back.
So now all we can do is wait. All that we ask of you is to keep Lola in your thoughts and keep her in your prayers or whatever it is you might believe in. We ask that you do not feel sorry for Lola or for us. Who knows why things happen to certain people, but obviously they happen for some reason. Perhaps to build strength. Perhaps we are to help raise awareness. Whatever the reason, we have to continue to have faith that she will indeed get better.
Update (June 9th, 2011)
Lola was put on a steroid treatment for one month. She became seizure free after about two weeks of the treatment. We went back in to see Dr. Luna and he put her on an anti-seizure medication. She will be on this for the next two years of her life. If in two years she is still seizure free, then we will begin to wean her off.
Lola also began weekly physical therapy sessions. We have found a wonderful team of therapists that will essentially help Lola grow past these developmental delays. She will many kinds of therapy including visual stimulation, hearing stimulation, motor skills therapy as well as learning about the sense of touch.
Finally, Lola’s follow-up EEG came back and the test came back normal. While the EEG is clear because of the medication she is on, it is still something to celebrate because it means the anti-seizure medication is indeed working. This is a significant milestone in her progression and we are so proud of our Lolita.
Update (July 1st, 2011)
Lola continues to take the 2 ml of Trileptal every day and has been seizure free for two months now. She is still in physical and occupational therapy weekly where she continues to improve her developmental skills. She was diagnosed with Cortical Visual Impairment which is a neurological visual impairment. She does not to see an ophthalmologist, she does not need glasses. She simply needs occupational therapy for her eyes as well as time for her brain to start understanding what it is she is looking at.
Update (August 29th, 2011)
We take Lola to see Dra. Mariana Vargas, an ophthalmologist here in Costa Rica. Lola’s eyes appear to look good except for a tiny blind spot which we are told she will grow out of. Dra. Vargas gives us the official Cortical Visual Impairment diagnosis, but makes a note that only Lola’s neurologist, Dr. Luna sees as a concern.
Update (September 30th, 2011)
Lola has a follow up with Dr. Luna in which he is still very concerned about her eyesight. He sees the report from Dra. Vargas and decided to order a MRI to rule out Septo-Optical Dysplasia. Lola has the MRI at CIMA hospital later that evening.
Update (October 4th, 2011)
Lola is officially diagnosed with partial lissencephaly in the occipital lobe (visual cortex of her brain). It is otherwise known as “smooth brain syndrome” or pachygyria. While the news was initially devastating, it certainly helps to explain why she can’t see. It also explains why she has West Syndrome. Therefore she is no longer classified as having cryptogenic (unknown cause) West Syndrome as she now has symptomatic (a cause is known).
Update (October 8th, 2011)
Lola has her first seizure cluster in almost five months. Her dosage of Trileptal is increased to 2ml twice a day.
Update (December 1st, 2011)
We move back to the United States.
Update (January 30th, 2012)
Lola sees Dr. Hema Patel at Riley Children’s Hospital in Indianapolis. Dr. Patel questions Lola’s lissencephaly diagnosis and orders for the MRI from Costa Rica to be re-evaluated. An EEG is ordered.
Update (February 10th, 2012)
Lola’s EEG comes back normal which means the Trileptal continues to work. She stays on 2ml twice a day in an effort to slowly wean her off as she naturally gains weight. We still have not heard about an official diagnosis although we did switch neurologists. Lola now sees Dr. Jennifer Zimmer.
Update (June 2nd, 2012)
Dr. Zimmer calls with shocking news that Lola DOES NOT have lissencephaly as we have previous believed for the last eight months. The MRI technology in the United States proves to be much more advanced than that in Costa Rica as the MRI shows Lola’s brain is almost normal minus the exception of a “slight decrease in white matter”.
Update (September 7 th, 2012)
Lola’s urine analysis, blood work and first round of genetic testing all comes back normal. Dr. Zimmer refers us to a neurogeneticist in hopes to find answers for Lola’s delay. Genetic markers will be identified and analyzed by the neurogeneticist. He will then order more genetic tests, but results can take months. This is where I, as Lola’s mother, must learn about the word “patience”.
Update (January 22 nd, 2015)
I realize I haven’t updated the diagnosis dialogue in quite some time so I’ll try to sum up almost three years. Lola began having partial complex seizures in August 2014. She was put on Keppra in addition to the Trileptal and B6. We are still trying to maintain seizure control through dosing alterations.
Lola was diagnosed with Bosch Boonstra Schaaf Optic Atrophy Syndrome as a result of the NR2F1 gene mutation. It is extremely rare and it was a spontaneous mutation meaning neither Rob or I passed it down to her. The main symptoms are optic atrophy and intellectual disability. We are still learning about BBSOAS, but it is relieving to finally know why Lola’s path has been different than most. The gene mutation explains all of the symptoms Lola has experienced over the years. Infantile spasms, CVI, epilepsy, nystagmus, strabismus and global delay. These are all symptoms of BBSOAS. Lola is still the happiest, most bubbly, most amazing little girl. I’m happy we have a reason as to “why Lola”, but she will not be defined by BBSOAS nor will we let this diagnosis pigeonhole her capabilities.
Update (August 26 th, 2016)
After believing Lola had seizures for the last two years, one of her “episodes” showed up during a 5 day vEEG. She was sound asleep when she abruptly woke up and began to exhibit the signs of the episodes. It lasted seven minutes long. We were certain we had the info we needed to figure out what kind of seizures these things were. About a week later, Lola had an appointment with her neurologist who informed us that the supposed seizure was not a seizure at all. In fact, there was no change in brain waves during those seven minutes. We were dumbfounded yet relieved that these were not seizures. Lola is now being weaned down on her Trileptal. She no longer has the same restrictions we once had in place for her (food, environmental, etc). This news has allowed me to breathe with ease for the first time in two years. The most interesting part of all of it is that we now know Lola hasn’t had a seizure since she was originally diagnosed with infantile spasms/West Syndrome as an infant. We are now on a path to figure out what the episodes are and have already begun intensive testing to try to pinpoint a diagnosis. She sure is thriving though!