Last week, we traveled back to the Mayo Clinic in Rochester, MN to check on Abram's pineal cyst to once again rule out neurosurgical intervention.
Abram was put down for a sedated and intubated MRI early on Wednesday morning and the procedure took about 2 hours. It is always extremely nerve wracking putting a child with underlying neurological issues under anesthesia. I hate it, actually and the worry is nearly consuming while my son is out of my view. However, Mayo takes care of things so expertly that they are like a well oiled machine. Before he is put out, I get to hold him in my arms as he's put down with gas so he doesn't have to suffer through the multiple pokes to get an IV started to get the actual anesthesia. The team there is always welcoming, answer my questions and easily put our fears at ease.
Last time, he had a hard time waking up from the anesthesia so this time, we opted to NOT give him any of his cannabis oil before the procedure. He seemed to be less groggy but he woke up angry and had a huge fat lip from where the breathing tube must have rested and pinched on his face. It's five days later now and it's finally gone down a bit and just has a canker on the inside but it was a good price to pay knowing what we know.
Unlike our experience at home where you have to wait WEEKS to get answers from your MRI - Mayo Clinic tells you the results of your scan within a few hours. As soon as Abram woke up, we got him lunch and went back to the Hotel to relax before we had our follow-up with Sleep Medicine. The Neurologist who heads the Sleep Medicine program there is so nice and even comes out to get his patients himself - which I find both impressive and humbling. Last year he suggested we get Abram's tonsils and adenoids removed due to obstructive sleep apnea but with his eating issues, we postponed the surgery because we didn't want to have further complications due to him not eating or being unable to eat the cool/soft/squishy foods required. We were also concerned on how accurate the results of a sleep study could be when he barely slept at all.
Our Sleep Medicine Neuro was very good at explaining that they don't need to see "perfect" sleep at a sleep study and that just a couple hours would suffice. After I showed him some videos of how Abram sleeps - he explained to us that the reason he sleeps in the positions that he does is because he's protecting his airway and that when he wakes up screaming the way that he does - is because he is having a "confusion arousal" where his Oxygen has dipped below where it should have. So, he told us that we'd need to come back in November (after Abram is done with his Neuro-Intensive Therapy) to have another sleep study and to meet with the ENT Surgeon again. He explained that even if we could improve his sleep by 40% - that it would help him immensely with learning, neurological development and everything else. We were told that they don't do outpatient surgery like this for kids like Abe with underlying Neurological conditions, so he would be put into the ICU for observation and we would be asked to stay in a hotel near the Hospital for a few days incase of an emergency. The last thing I want to do is come home and have an issue that required help and be stuck worrying if he'd get proper care and/or needing an ambulance transfer to Mayo.
In addition, our Sleep Medicine Neuro was a little shocked to meet a child with UBE2A. He told us he'd been a Neurologist for 38 years and that Abe was the FIRST KID he's ever met with this condition. Ironically, he had literally just been researching UBE3A (Angelman Syndrome) the night before not having any idea he'd meet a boy with UBE2A the very next day. He seemed quite impressed and interested in learning about it and told me it was "quite nice" that I dedicated a page of this website to help other parents newly diagnosed with UBE2A to find much needed information and someone to connect with.
Luckily, he told us the pineal cyst was 'stable' before we left because when we met with the Neurosurgeon, about 4 other doctors came in with him and I think I would have panicked if I hadn't known that all was well before seeing that many faces coming to see my son's brain scans. Our Neurosurgeon told us that Abram's pineal cyst is "stable" and that we don't need to keep scanning it unless something major occurs like extreme headaches with nausea and vomiting or issues with his eyes and being unable to look up. I was relieved to hear we wouldn't have to continue to put Abram through these scans so often. He did share that it could cause issues for him later in life. It may need to have surgical intervention at some point but it *could* just stay the way it is for the rest of his life and not cause him any more issues. I'm just glad to have an end to the brain scans for now so we can focus on everything else. What a relief!!!
Before we left, we met with our "coordinating pediatrician" who kind of sits and talks with you forever about the things that you find most concerning currently and how Mayo can assist you in the areas that you need. We talked at length about the differences we've seen since we started using cannabis oil and our hopes to wean him fully from the nasty benzo, Clonazepam. She agreed fully that getting off that drug would help him immensely and thought it was a great idea to be solely on cannabis oil ONLY. She asked who we followed up for with Neurology and I explained that since Iowa's law requires us to have an Iowa Neurologist to keep us "legal" in Iowa with his medicine - we were unable to keep a relationship with Neurology/Epileptology there. She shared how difficult these laws make it for physicians to be able to help because in MN only MN residents can be helped with their cannabis law as well. (Despite the fact that our Law Makers in Iowa somehow think they can send us there for help.)
So, it seems that when we go back in November we will see Sleep Medicine, ENT, a Developmental Pediatrician, a Dietician, Speech and a few other areas I cannot recall. We will be busy again rolling into the Holiday Season but I am so thankful that that cyst has decided to stay put, to not grow and that neurosurgical intervention is NOT needed at this time.
Life is good. Our family has much to be thankful for. Although Abe's "normal" still includes endless therapies and doctors appointments with specialists and sub-specialists - I know we are beyond LUCKY to have answers and to be able to cross invasive brain surgery off of our list for now.
I'm not sure to start as I feel like every single time that I have posted lately I have just been a sad Mama. Since the day Abram was born he has been fighting and he is one tough little boy but I am hoping and praying for a day when he can have a full 24 hours of feeling good. A week or a month would be even better but for now I would settle for an entire day of happiness for this little boy of mine.
Abram has been having a lot of sleep issues lately. It seems like he has reverted back to an almost newborn-style schedule and wakes every night anywhere from three times to a half-dozen or more. However, his wakefulness involves a lot of screaming and sets my heart pumping full of adrenaline because he scares me out of my own sleep so badly. This poor kid just doesn't seem to be able to catch a break. With every month that has gone by since the day he came into this world it seems like another issue comes to light. It seems with the more questions we have, the less answers we get and the more hopeless and lost I feel.
I knew motherhood would be hard. I knew it wouldn't be all sunshine and lollipops and I am absolutely aware that there are probably a lot of folks reading this who have it a lot worse than I do and for that - I feel incredibly selfish for even saying that right now I just feel lost, helpless and a little hopeless even.
Most recently, Abram has started to have strange episodes. The first time we were just playing and he just screamed out, his entire body went limp and he flopped into his Boppy limply. His eyes were open but he wasn't there and he was not responsive and then.... just like that he was back up and playing like nothing happened. The second time I had just put him down for a nap and within 15-20 minutes he was screaming bloody murder. I ran into his room to find him face-down in his crib screaming and screaming. I picked him up and ran into the living room so I could get a better look at him and find where he was hurt. His entire body was limp, his head was just dangling there (as was his legs and his arms) and even though he was still screaming... he was not responsive to me at all and again his eyes were open but no one was home. I took him to the doctor that day and we were scheduled for an EEG that we had to wait two weeks to get. In the meantime, he had a third episode that was similar to the one I just described but his muscles were rigid and tense. After the last two episodes, he just "came to" gasped for air and fell right asleep. I've been told that these episodes could be seizures or they could be night terrors. What the correct answer is - I do not know and again we have to wait and see.
Abram just had his EEG this week. I think the worst part of it was sleep depriving him, which we had to do in order to avoid sedation again. So we had to put him to bed two hours late, wake him two hours early and not allow for him to have any naps. I was assured that the EEG itself was not painful but Abram was not a fan of being strapped down to a board and having a sweet nurse draw on his head and attach the sensors. His head was then wrapped like a mummy and I was able to crawl into bed with him and cuddle him while he was supposed to be sleeping. Again, he had several wakeful issues during his EEG and at one point just sat straight up in the middle of it. It was a short EEG - only 65 minutes and then we were allowed to go home. Now we are just waiting for the results on that and I am anxiously waiting for our Neurologist to get back from Vacation so I can talk to him about some of our most recent concerns.
Luckily, I still have a couple of weeks left to ask the advice of Dr. Shahinian of the Skull Base Institute in LA, so we have a phone consultation with him again on Monday. I typed up an email with a lot of our newer concerns, questions and sent him a link to some video clips that I feel are important for him to see as Abram has developed a lot of strange quirks with his eyes on top of the strange scream/sleep episodes.
In other news - we are still waiting to get in with a Geneticist to figure out the cause of Abram's Hypotonia and are now working with a Dietician to make sure he is getting all of the healthy fats and foods he needs to make sure he grows up all healthy and strong.
That's all for now. There will be more news after we speak to Dr. Shahinian and after we get the results of the EEG. As always, thank you so much for the support. I have found an incredible network of people who suffer from Pineal Cysts as well as Parents of children with Special Needs and I must say that it is incredibly heart warming to have people who understand what we are going through and who take the time to send a kind word whether they are across town or on the other side of the globe. Our little family cannot thank you enough for your kind words.
Hi! I'm Erin. I'm Abe's mama, a tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.
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