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.
Looking back, the first realization of bad news was the day our Neurologist called me and told me that our son had a mass in his brain. I was so scared I nearly lost my mind and felt like I had a literal fist in my gut. That isn't news that you should have to hear over the phone and our journey since that day has changed immensely along the way but that original worry is still there.
At that time, we were told by a world reknown brain surgeon that the mass (cystic pineal tumor) would require one of the most dangerous types of brain surgery to remove. However, the risks vs the rewards of removing it at the time were too high and although he warned us it would cause him to have seizures, we were nervous and relieved to hear that we needed to wait for "worsening neurological symptoms" to occur before they would remove it. When we visited the Children's Hospital in our own state and we shared our concerns regarding said neurological symptoms and the three hour drive to get to their facility we were told "that's what helicopters are for".
Our friends have thrown fund-raisers for us to help us save money for Abram. One lovely lady even shaved her head in his honor and to see the support we had from our friends when we needed it most was the most uplifting part of this entire journey. No matter what we are going through, we have an amazing outpour of support from our friends, our family and our community here at home and online in the special needs community as well.
For the longest time, I thought that if we got that mass out of his head, he would be "fine". Alas, our journey has taken us on a different path entirely and I know now (or have come to terms with the fact) that Abram's case is so much MORE than a pineal cyst and that part of his diagnosis is truly a symptom of his actual diagnosis - the UBE2A Deficiency Syndrome. We cannot "fix" or "cure" what is going on in Abram's brain as I once hoped that we would be able to do. There is more going on in his brain with grey matter where it shouldn't be, atrophied hippocampus, suspected mesial temporal sclerosis, etc that cannot be fixed with surgery.
With what is commonly referred to as an "incidental finding" with a pineal cyst has become an annual (or even more often) issue of putting our son under a sedated/intubated MRI, kissing him goodbye and hoping that the anesthesia doesn't have a bad impact on his seizures. He had a really hard time coming out of it the last time, so this time - no cannabis in the morning of the MRI to see if that makes a difference.
Anyhow, after our journey to Mayo last summer, I thought that after they had found so much other stuff going on within Abram's brain tissue that the pineal cyst would be the least of our worries. Yet, when I specifically asked the Mayo Clinic why we were needing a follow-up MRI this fall - it was literally the pineal cyst that they want to check up on. Specifically to see if it needs "Neurosurgical intervention". Reading that made my stomach sink a little. I knew deep down that it needs to be watched. What they said would be a "slow grower" had doubled in size. What used to be a perfectly round cyst is now shaped like a kidney bean because it is getting squished in the anatomy of his brain as it grows. It makes me nervous. It scares me. I don't like it.
But I'm so thankful to have a Hospital that acknowledges it, that wants to follow it and that cares enough to make sure that our son's brain is OKAY. There are so many others with a pineal cystic tumors who are ignored, ridiculed and made to feel that they are mentally ill. They are told that this cannot possibly impact their quality of life but those doctors are wrong. We have sought opinions from individuals across the country from NYU, to Barrows Neurological Institute to Mayo and more.
These masses sit right in the center of the brain and press on parts in the deepest recesses of the organ that should never be touched. Sensitivity to light, sound, migraines, seizures, hydrocephalus, Parinaud's Syndrome and more are just a few of the things that can be affected by it.
Sleep is something that has eluded Abram since he was a tiny baby - as the pineal gland regulates melatonin and sleep - it isn't much of a surprise. It's just hard that here we are four years later and he still has never slept through the night. It's hard to know it's there and on his bad days it's hard not to jump to conclusions and worry that something bad is about to happen.
So, the second week in September, we journey back to MN to check in on the mass in our son's brain and to touch base with Sleep Medicine again. The thought of the MRI gives me anxiety but the thought of not watching it is even scarier.
It's hard watching your child never know what it's like to have a good night's sleep. Even the prescribed psychoactive benzodiazepines that our Neuro prescribed for his seizures would allow for him to have a full night's rest. I've learned how to live my life as if I have a newborn every night. I can't imagine how that must feel for Abram - to never have had a full night's sleep.... to never go more than 2-3 hours without waking up screaming.
I wish it were easier for Abram. But I will take these months of seizure-freedom and be proud and happy for him. I've learned to just roll with the punches and take things in tiny baby steps as they come. Worrying made me miss out on so much of his baby-hood. I'm not missing out on his toddler days worrying about what could be. If/when he needs to have brain surgery - we will deal with when it comes. And I know that our friends and family will have our backs 199%.
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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