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.
There is nothing that I can stress more when you are dealing with a sick or special needs child than the fact that if you feel that you have gotten terrible care or that the individual you met with did not answer all your questions - PLEASE get a Second Opinion.
Until I had a son that has had medical issues since day one, I had no idea how different and often times completely opposing views doctors and nurses would have as to what is considered appropriate care for my child. If you are new to the blog you might be shocked to hear we had an Orthopaedic Surgeon tell us that our son may not walk, a Neurologist who told us he was "fine" and a Pediatrician who missed a lot of signs of a serious issue for the first ten months of his life!
I am lucky to have had a nurse friend advise me on what to do when no one else was listening. So, if you are reading this because you have a sick child and no one listens... find someone who will. Since my son was born we have seen Nephrologists, Orthopaedic Surgeons, Neurosurgeons, Neurologists, Ophthalmologists, Cardiologists, a handful of Pediatricians, Orthotists, Physical Therapists, Occupational Therapists, Dieticians, and almost any other kind of "ist" there is out there. Once I finally got his first Pediatrician to admit that something was off with my child, there hasn't been a day that I haven't fought like hell to do everything that I can for him.
After my last post, we decided to travel to Iowa City to see another Nephrologist. She concurred that he does have abnormal kidneys but that the scans weren't exactly the best. It appeared that they are almost on top of one another, so she doesn't believe them to be horseshoe kidneys per se but said that there was flesh where there shouldn't be any and that they definitely aren't where they are supposed to be. So, she recommended that he get a nuclear test (Mag 3) to check his kidney function and to make sure that everything is working properly. They were going to try to schedule it the same day as his next MRI (in three weeks, eep!), so he only has to be sedated the one time. Sedating your child is risky and scary but sometimes it is a necessary evil.
In addition to the Nephrologist, we also managed to get the Sleep Study conducted over mother's day weekend. We took our own supplies and showed the sweet nurse how we prevented him from ripping off the sensors during his three day EEG. They managed to get the information they needed from the very little time that he slept (he woke every 60 minutes the entire night) but I am hoping that it is enough to show the Pulmonologist what is going on in Abram's sleep. We have already ruled out Aspiration but are still waiting to hear if he has sleep apnea or RLS before chalking his sleep issues 100% as an affect of his chromosomal disorder and the mass on his pineal gland.
The Geneticist also called back to report that Abram's test for Noonan Syndrome came back as "normal" but that the test only catches 60-70% of the cases so a normal result doesn't necessarily rule out Noonan Syndrome but it makes it less likely. That was a $4,700 test for a maybe? So, now we are still waiting on the results of my husbands blood work to see if he is a carrier of the Chromosome 7 Deletion. If he isn't, then they will be testing for Fragile X Syndrome.
We also have had a follow-up with our Neurologist who upon walking into our appointment was convinced that he would start medication for Abram's seizure-like activity but after seeing him and how much he'd improved socially and physically since our last meeting changed his mind entirely! That was a big relief. The less medicine the better because most anti-seizure medications make kiddos very sedate and his entire personality could change.
Next month is another huge month with appointments and follow-ups but I am hoping that July will bring fewer doctors appointments and more fun! This is officially Abram's third summer and I plan to make it the first memorable one for him. He deserves to be a kid. If the Fragile X comes back as "normal" too, I think we'll be taking a break from the hunt for a diagnosis or a name of a syndrome for our son's affliction. Life is too short to spend it in a waiting room!
Hi! I'm Erin. I'm Abe's mama, a tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.
MOST POPULAR BlOG ENTRY