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've been trying to make a point of taking a few minutes each day to share something about how Epilepsy affected our family. It's only been a little over a year since we got an official "Epilepsy" diagnosis. However, it has been with us since the day my son was born. Unfortunately, it just took the doctors over three long years to figure it out.
As a newborn, my son never stopped screaming, crying, writhing in pain and rarely slept. If he did, it was never longer than a couple of hours and then it was right back to the screaming. Nothing soothed him. Nothing made him feel better, although sometimes the sound of the vacuum would relax him until the moment I dared turn it off. (I read that trick in a colic book.)
Our first Pediatrician failed us miserably. He not only missed many genetic markers that are obvious to most other doctors we have met, he brushed off all of my concerns and claimed that I was a "nervous mom" and that my son's issues were nothing more than him "being a little colicky" and "acid reflux".
It took the first ten months of his life for someone to listen and even then it was an off-chance meeting with a Pediatrician we'd never met who asked me what was wrong with Abram's eyes and had concerns for his large head. Thanks to that man, we were referred on to Neurology and we started on our journey to answers but they certainly didn't come easy.
Since the Summer of 2013, we have seen dozens of specialists including numerous Neurologists, Neurosurgeons, Epileptologists, Nephrologists, Endocrinologists, Geneticists, ENTs, Developmental Specialists, Cranio-Facial Surgeons, Orthopaedic Surgeons, Physiatrists and more.
Last month was literally the first month where Abram did not have to go to the Hospital or have any Doctor's Appointments since the day he was born!!! We spent it going on lots of walks, attending all of his therapies, going on a train ride, going on a horse-drawn wagon and checking out a Fire Truck at our tiny town's Halloween shindig. It was incredibly refreshing to have a month off.
Yesterday, we traveled to our University Hospital again where we had a follow-up with Abram's Developmental Specialist. She stated that I am doing everything that I CAN do, so that was a relief. We were informed that with the new "Neuronal Migration Disorder" diagnoses that he now qualifies for the Brain Injury Waiver and for the Health and Disability Waiver in our state - so if he should ever outgrow his current Intellectual Disability Waiver - we will have already applied for the other Waivers in hopes of never having a lapse in his care.
The Mayo Clinic gifted us an answer after we'd been fighting for so long to get one. I feel lucky that we have a wonderful Pediatrician (she started her own Special Needs Kids' Clinic) who went to bat for us to be able to get us there. It took five long months of waiting to get the referral but it was well worth it.
If you are fighting for a Diagnosis for your child, don't give up. I know that it's a long and difficult road. I personally had a lot of people ask me why I wanted a diagnosis, it is just a "label" after all. I cannot disagree more with that thought at all.
For us, a diagnoses meant everything. We needed to know what caused our son's Epilepsy and Global Developmental Delays so we could know how to best treat it. What we finally learned at Mayo explained the cause, which in turn can help us with his treatments. The information and "labels" that we got will help us help give him the best possible life by giving him the therapies that he needs the most.
Some of his new diagnoses include a Neuronal Migration Disorder (Cortical Dysplasia), issues with his hippocami twisting and Mesial Temporal Lobe Sclerosis. These issues explain nearly all of his other symptoms and diagnoses. There is no treatment or cure for his migration disorder and they types of seizures he suffers from do not have a surgical approach that can help them.
What we can do is keep doing what we are already doing: therapy and lots of it. Abram is currently in Speech, Occupational Therapy and Feeding Therapy. He "graduated" Physical therapy when he started walking but he will have to go back within the next couple of years so he can learn how to conquer things like going up and down stairs and jumping. He lost his words with his last round of serious neurological issues last spring and has yet to regain them but he is beginning to make more and more sounds and is finally able to point and use a pincher grasp at 3!
Abram's life is changing. It's not easy. It's a lot of work for him but he doesn't know it any other way. His fierce willingness to fight for mobility, to speak and to keep fighting to learn and re-learn how to do that blows any of my life's issues out of the water. This kid is incredible. He's my little fighter. My little badass. My little Abram Mayhem.
Hello, Everyone. Today we went and got yet another opinion from our local NeuroSurgeon. He was a very nice man and I cannot complain about him or his bedside manner. He was very kind and concerned but unfortunately he did not have anything new for us to learn. However, at least there is finally some consistency amongst the doctors that I do trust and he denied that there was "fluid all over his brain" like the other Neurosurgeon noted.
Luckily, I decided that in order to prevent myself from going absolutely insane I CANNOT concentrate on all of their differences in opinion. I can only focus on the similarities in opinion or continuing care and what will be the best option for our son. Right now the only thing we can do about Abram's cyst is to know the symptoms and signs of any worsening Neurological issues, to call 911 if said neurological issues happen and then to follow-up with another MRI in six months to check for growth. That is it. That is literally our only option. It is a hard pill to swallow but it is what it is and I can't let the weight of that bring me down. Sadly, this fight to get an answer about the lesion in his brain has veered our family off onto another path with what is now assumed to be a "genetic and chromosomal abnormality" in our son in addition to the cystic lesion of the pineal gland in his brain.
The brain lesion and all of his "global" developmental delays are completely separate issues needing to be dealt with. It was difficult realizing that something else is causing the rest of his issues when I hoped I would be able to blame his condition on the brain lesion. To hear that your child has a "genetic or chromosomal abnormality" just brings fear to your heart, a million more questions about other defects and most importantly what my child's expected life span is.
This realization is especially paintful because there is no "cure" for genetic abnormalities. The only thing the Doctors can do for our son is to offer him symptomatic treatment (which we have already been doing since he was 10 months old), preventative measures for heart defects, etc and to assist his father and I in finding a good support group where we'd be able to meet families going through a similar struggle.
I often hear, "I don't know how you do it" as I am sure most parents do. Although for me, it means a little more than a kinder way of saying "your kid wore me out". In fact everyone who has been able to spend a significant time with my son on a bad day has told me that they don't understand how I am functioning and for me it just is a relief to hear that they get it. Obviously no one wants to be the parent with the child that screams non-stop and be the receiving end of all those judgemental people and parents out there but having the confirmation that something isn't right after having to fight so hard the last 16 months is a relief. I have no choice other than to hold back the tears and fight as fiercely as I can to ensure that my son gets the medical attention that he needs and believe me, I have fought.
I do it because I am Abram's Mama and I made a committed and purposeful choice in bringing this little boy into the world. It is my job to make him feel better and NOT being able to do that has been the hardest thing I have ever been through and will continue to go through. I just want our son to be able to say that he is proud of us for doing our best and loving him as much as we could. I just want him to live and love life and be happy so hopefully we are finally on the route to more answers so we can help him accomplish all that he wants to and more.
Today we made the drive to Iowa City to see a Neurosurgeon and a different Neurologist for a "second" (ahem, third and fourth) Neurological opinion. It's strange to feel excited or anxious to meet a Neurosurgeon but after reading about his Academic Background, I felt like he had a background that would cover the bases with what our son is suffering from.
Instead, I got a barrage of strange questions including: What I do for work, What I did before that, Have I been around Chemicals, Did I do drugs when I was pregnant, etc etc. He seemed very disinterested in our son, didn't pick him up, barely touched his head (just measured his soft spot) and immediately dismissed us telling us that what is wrong with him is part of a "bigger picture" that the cyst has nothing to do with his symptoms and that what is wrong with him happened to him in-utero and that we do not need to come back. He also informed us that our son has fluid on his brain (all over his brain) and that it is not hydrocephalus and that the cyst will need to be monitored with yearly MRIs.
This information was all talked AT me while he either a) kept his eyes closed shut while speaking to me or b) staring at my tattoos with a look of absolute disdain on his face. (Typically I cover up my tattoos in front of folks like that (and even my Grandpa until last year!) but it was so ungodly hot in there, I was sweating profusely and the coffee was kicking in like crazy.) I was offended, disgusted, outraged and near tears. Livid, actually. But we were quickly shooed out of there and weren't even made to check-out. I basically felt like I had been attacked, blamed for my son's condition and quickly excused. He didn't even shut the door during our consult. Needless to say I was and am extremely disappointed. *sigh*
After that appointment, we we had to wait around a couple of hours to see the second Neurologist at the Specialty Pediatric Clinic and I did like his bedside manner. He seemed hurried but he was more thorough than the Neurosurgeon (clearly) and asked more about his birth than anyone else has. He also took a look at the MRI and told us that the cyst is not causing his problems, that is is *almost* a "normal" kid and that he will most likely "grow out of it". He said that he would not recommend genetic testing or the 24 hour video EEG that our local neuro has ordered. Again - completely different diagnosis. I want to rip my hair out.
So this is what we are left with:
So what are we supposed to make of this?! We have a Physical Therapist who admits that our son is hard to deal with and that she couldn't imagine having to have a child like him in her home full-time. The other Physical Therapist has had such a hard time with him she wants to co-teach with another Occupational Therapist (the best one at the outpatient service we use) because the first person who got assigned his case turned it down as she didn't feel that she had enough experience.
People that are around him the most see that he is fussy and has a lot of issues so I am so frustrated and torn on which opinion to believe! I was hoping that out of them all at least two would have a similar diagnosis but that just hasn't happened and then we as parents are left here standing all of the (mis)information trying to figure out what is best for our son?
Who am I supposed to believe? I know in my heart that what my son is doing isn't "normal" but it would sure be nice to jump on that boat of denial. I would like to think that the cyst isn't causing issues but no one can seem to come up with another cause that could be causing him so many issues. The Neurosurgeon today is the first one claiming that our son has fluid all over his brain. If that is true, why haven't the two radiologists and the three other Neuros mentioned it?! I'm convinced that no one knows a god damn thing. I'm pretty sure that in back of the offices somewhere is a spinning wheel with different diseases on it and they throw the freakin' dart. Nah... if that were the case... I'm certain we'd have better odds of getting the same answer.
God damn it. I guess it's just back to more waiting.
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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