We finally made it to the Mayo Clinic in Rochester, Minnesota last week. I must once again thank everyone for the help they sent our way in the spring so we were able to afford to stay out-of-town while our son needed to be in appointments throughout the Mayo Campus for the last week.
We FINALLY have an extensive medical team standing behind us and for us. The level of care and compassion at Mayo compared to anywhere in Iowa was beyond any expectations that we had. We did not get good news but it was news we needed to know and it is never easy to hear unexpected results after your child undergoes his fifth sedated MRI at just over 3 years of age.
In the last 7 days we met with a new Neurologist, Neurosurgeon, a Geneticist, a Genetic Counselor, a Genetic Researcher, a new Developmental Pediatrician, ENT and Sleep Medicine Physician. My son had to endure an MRI with lumbar puncture, multiple blood draws and a 16-point sleep study and another Video EEG in the last week.
They used a different kind of MRI machine on Abram in Minnesota called a 3 Tesla. (You can read about it here.) Basically, this MRI takes thousands of images in comparison to the hundreds that are taken here. Which means a clearer picture of what is going on within Abram's brain, literally.
Sadly, they found that in addition to the Pineal Cyst they have also discovered that Abram's brain has multiple abnormalities. It turns out that while he was developing, some of the gray matter in his brain did not "migrate" out to the outside of his brain. So, he has certain types of brain matter within the white matter of his brain that is not supposed to be there and he also has grey matter within his cerebellum.
These changes are what they feel are causing Abram's seizures causing him nearly all of his issues including his inability to retain language. They are not sure if he will ever be able to speak but they aren't ruling it out, either. So in that way, we will just keep on doing what we have been doing and immersing him with as much therapy and outside help that we can get. We FINALLY have an SCL and Respite Team that we adore and are working TOGETHER to do the best for Abram.
We also have been advised to do a Full Exome Genetic Test. In doing so, it will check all of Abram's Genes and see if there are any abnormalities that the three of us don't share. From there, they can try to narrow it down even more if they happen to catch something. We have joined Mayo's Research Study so any testing that happens after the Full Exome will be covered in full in trade for our DNA.
Many people don't understand the point in doing this sort of testing but this is what they need to understand: Genetic Testing is not to figure our what is "wrong" with our child. It is not to be used to point fingers at which parent a child got handed down a gene from. This is about how to prepare for our son's future. This has the potential of not only possibly catching something to help Abram live the best life but it also has the potential to help other families who come after us. Abram's story, diagnoses and genetics has the great chance of helping another child and another family know what to expect. This is about doing what is best for Abram. If they don't find an answer - so be it. If we find a causative gene - we can help pave the way on how to best prepare a family with a similar diagnosis.
The EEG found that his brain fires all of the time from all over the place, due to the fact that he has grey matter where it shouldn't be. There is no surgical fix for that type of seizure so it is something he was born with and will always have.
In addition, the feel that the pineal cyst is significant and want us to get another scan in 6 months. I was hoping that this would be the last time they would tell me it was "incidental" and "not causing any issues" and we could go on with it. It just sucks is that the reality of it is that it requires constant monitoring. And constant worries about the effects of the Anesthesia on our son.
The best news was that when I shared that my son was on CBD and had been 9 weeks seizure free they all didn't look the least bit shocked and were pleased to see that it was working. It was even referred to as an "innocuous drug" and without side effects.
I was told that there was NO NEED for the change in meds (in addition to his Clonazepam) and that if nothing's broke - you don't fix it.
CBD has given my son the first summer in his life where he was able to enjoy it. He laughed more. He loved more. He got to be a little boy for the first time in his life.
He got to run the first time and get a skinned knee at his Grandpa's. He got to go to the splash pad and have fun with other kids. He got to go to the play area at the mall for the first time ever without hightailing it for the car because it was too overwhelming.
We didn't get the answers we wanted but we got the ones we needed. I officially know that I am doing all that I can for my son. We officially have a TEAM of medical sub specialists who are willing to help us and take care of our medically complex boy.
Hi! I'm Erin. I am a single mom, tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.