The Neurogeneticist




These were among the promising words the neurogeneticist said to us on Friday as he discussed Lola’s undiagnosed condition.

I remember asking Rob on Thursday (the night before the appointment) if he felt worried about what we’d find out. And ever so calmly, he said he didn’t feel worried at all and he just thought this was something that just happened to Lola. Oddly enough, I too, didn’t feel as worried as my normal worrying self would have usually felt. I just kept telling myself as long as it’s not terminal and as long as it’s not a degenerative disease than I can handle just about anything. And thankfully…oh thankfully…the doctor said just that “I don’t think she has a life threatening illness or some type of degenerative disease where she will continue to regress. In fact, if I had to guess, I think she is just going to keep progressing just as she has been.”

Those words were like music to my ears, answers to my prayers, words I had wished so hard would be spoken and now I was able to hear them myself. I remember letting out a long sigh…one I had been waiting to exhale since Lola entered into the “undiagnosed” category when her lissencephaly diagnosis was retracted last year.

The doctors (a Fellow in the neurogeneticist department was there also) asked many questions about my pregnancy, our families, Lola’s life, Lola’s challenges, accomplishments and much more in between. They were both surprised with the level of care Lola received in Costa Rica as Infantile Spasms can be tricky to diagnosis and even trickier to treat with medication. They were even more shocked by the medication choices Lola’s neurologist (Dr. Luna) in Costa Rica put her on yet were pleased with how well she has responded. They voiced they would love to know why Dr. Luna chose the route he did and even said maybe he knows something they don’t! They said Lola is among the “lucky ones” in the Infantile Spasms world as most kids go undiagnosed for many months and they generally have hard to control seizures. We were warned Lola may indeed have a type of epilepsy as she gets older, but they are generally easier to control and they aren’t nearly as detrimental to the brain as infantile spasms are.

The doctor asked what we were hoping to accomplish with the appointment and Rob and I both expressed our concern that some strange symptom of this unknown condition might just pop up. Remember we thought Lola was a healthy little baby for four months until the seizures began. Probably feeling a bit traumatized by that hiccup in her life, we want to have some type of assurance that something life threatening wasn’t going to just suddenly appear as some conditions can at around the age two year. The doctor ordered three gene tests although he prefaced by saying he didn’t necessarily think anything would be found. He believes Lola had a new gene mutation which caused the decrease in white matter, the infantile spasms, the delays and the vision impairment. He heard all about her progress and he could see for himself how well she was doing (she was enthralled with his glasses). He said he had no doubt she would eventually walk and talk, but just like the rest of her achievements…she would just do it at her own pace. Now in the future, if she happens to have a surgery and needs anesthesia such as to fix her little crossed eyes, then he would like to do a spinal lumbar test to check the fluids that go through her spinal cord and up to her brain. He felt it is a low yield test (meaning the chances to find a diagnosis are slim), but it is something to consider in the future.

If these three gene tests (remember she has had many other panels ordered by her neurologist all which came back negative) are all negative then I think Rob and I have made the decision to just leave it alone. If Lola had crazy symptoms or if she was regressing than I think we would dig deeper to find answers, but the fact is that she is indeed progressing, she’s learning, she’s thriving, she’s healthy and most importantly she’s happy. She’s just Lola with or without a diagnosis. We have always said we would never let a diagnosis define her so as long as she’s healthy what difference does it really make? She’s going to go on to live the life she was given and we’re going to continue to push her to dream big, to reach for the stars and to stop at nothing to get there…even if it does take longer than the average soul. Who likes being “average” or “typical” anyway? We like unique and we embrace living in Holland and we wouldn’t change a thing about Lola. Which is precisely why I didn’t bat an eye when we were told our chances of having another child with Lola’s genetic condition were about 1 – 25%. I’ve never liked betting against the odds which is exactly why I’m not going to live my life around them. So bring on the baby!

**We go today to get Lola’s blood drawn for the gene tests and we have decided to donate some of Lola’s blood for research in undiagnosed genetic conditions. The blood will be sent off to the University of Chicago where they are doing extensive research to try and find patterns of gene mutations and symptoms in an effort to help children with undiagnosed genetic conditions in the future. Lola is already having her blood drawn which is why we feel compelled to donate it as it could potentially help another child in the future.

Playing in the ball pit at her Social Group.

Playing in the ball pit at her Social Group.