Family and friends, we wanted to let you know of some great news!
So, as some you know, we had an appointment with a geneticist down in south Florida on the 4th and wanted to write and let everyone know how things went. We met with Dr. Benke and part of the way through the appointment he stated that he felt like he knew what was going on. He said that, based on the labs and our explanation of what we’ve been dealing with the last year, he felt like Naomi’s body is having difficulty processing an organic acid called Glutaric Acid. He was really straight up with us that he was giving us a presumptive diagnosis, but said he felt strongly that this was what was going on. The only way to definitively diagnose this disease is with a spinal tap, but since he didn’t feel like Naomi’s case was severe enough to warrant that, he told us to decrease the amount of protein that she gets in her diet and she will start taking something called Carnitine which is used to detoxify the brain. We had some more labs done today to cross off a couple of other things that could possibly be causing this and will be talking to Dr. Benke on the phone or via email when those results come in. Even though this is another presumptive diagnosis, we feel like this is the first time that a Dr. looked at us with certainty and told us what we were dealing with. He taught us how to treat it, expected it to be dealt with in this manor, and gave us instructions to determine if his assessment was wrong. He’s been in this specialty for 35 years and told us he was confident about this diagnosis and hoped that with this treatment we could avert the spinal tap and see our daughter well. He also finished by giving us a website that had 25-30 different metabolic specialists in Brazil that we could work with and was willing to communicate with them. We want to thank you all for your prayers and for being with us as we are continuing to walk this crazy journey. This is the first time that we have had a peace about a diagnosis and felt that everything Naomi has been going through was explained. We are very excited to be in this position and are thankful to have you all praying in our corner.
We love you all!!!
The Mersingers
