To sum it up: I am pissed. I am so frustrated with the medical care my son has gotten since Day One. I am so tired of people being completely oblivious to the fact that even though we (as a Country) feel we live in such a great place with medical help - the fact of the matter is - it depends wholly on what insurance you have and how much money you'e got. If you or your child has a major health care issue and cannot afford private insurance on top of the Medicaid your child qualifies you are screwed. It's even worse if it's rare.
It seems to me that the doctors we have dealt with personally, would much rather tell you "I don't know" than actually do some research to try to educate themselves so that maybe they could offer some words of advice. Instead, they just point their finger at the next Specialist and send us on our way.
To help you understand my frustration, here is my breakdown in dealing with Neurology, Neurosurgery an Genetics:
Almost 18 months ago, I was told that my son had a Pineal Cyst. I was told that they are "notoriously slow growers" and that it most likely wouldn't grow at all. However, we were sent to another hospital for a follow-up MRI with a Pediatric Neurosurgeon. When we checked in and were about to put my son under anesthesia they had to ask me what we were even there for! Yes, that's right. They didn't even know WHY we were there. I had a lengthy discussion with the Nurses, the Anesthesiologist and everyone else involved in my son's care that day as to what we were looking for and much to my shock and horror the Radiologist came back and reported my son's brain scan as "normal" and "no mass lesion" when any fool with eyes can see that THERE IS SOMETHING IN MY SON'S BRAIN. (With this, I must stress the importance of YOU as a parent taking a major role in your child's health care. Get copies of everything. Get records as soon as you can. Get the Discs of all the scans and LOOK at them. READ the reports. You might be shocked at what these "specialists" are missing.)
So, I call my Neurologist who in turn is livid and makes the radiologist correct his report. Yet, you know what is scary? Typically Neurologists go by what the Radiologist says! What if that had been his first MRI? What if I HADN'T checked the scans and read the reports myself? Thankfully, we have a Neurologist who cares and advocates for his patients.
The truth is, we wouldn't be where we are or as far as we are. YOU have to advocate for your child. No one else is going to do it for you. No news is not good news. No news in actuality probably means someone is not doing their damn job and I have learned that time and time again. Anyhow, after that debaucle we met with the local Pediatric Neurosurgeon who told me that it is likely benign, can't cause symptoms, etc. Come back in one year for a follow-up MRI, which is where this part of our story actually begins.
Due to the fact that the Radiologist incorrectly reported my son's brain scan as "no mass lesion" when we were there for a follow-up BECAUSE HE HAS A MASS LESION, I wanted a second opinion. So, we got a referral to our state's teaching university (a four star hospital) and we got an appointment with what we were told was a world reknowned Neurosurgeon who came highly regarded. We also had an appointment with their Pediatric Neurologist as well to get another Neurologist's Opinion.
To get to the teaching hospital it is a 2+ hour drive to get there and when we met with this world reknown and highly regarded Neurosurgeon it was clear he had no interest in helping us and didn't even bother closing the door to the consultation. He took one look at my heavily tattooed arms, asked if I'd done drugs while I was pregnant, informed me my son had fluid all around his brain, that whatever was wrong with him happened in utero and that we needed to go to Genetics. He scoffed at my questions and quickly dismissed us.
Two hours later we met with the same teaching hospital's pediatric Neurologist who was in such a hurry to get away from us he seemed more like The Rabbit from Alice in Wonderland than a doctor. He couldn't stop looking at his watch, watched Abe roll around on the floor for less than 5 minutes, didn't even DO a physical exam and said "He looks fine to me. Come back in a year if he's still not walking." and he rushed off with his briefcase in his hand. I was livid. I filed complaints. Nothing came of it. I was hurt, disgusted and feeling betrayed by the medical system. How dare they not care about my suffering infant?!
After that, I researched day and night and read as many medical reports that I could find to educate myself as much as I could about Pineal Cysts. I joined a private support group for people who suffer from these lesions and for parents of children who suffer from these lesions. Thankfully, I stumbled upon the Skull Base Institute in Los Angeles and Doctor Shahinian. Luckily, my father and step-mother helped us out with the hefty consult fee it took to get a true professional opinion on the lesion in my son's brain. He informed us that my son's cyst was significant, that it was causing vision disturbances and that it would need to be dealt with. Last year was just not the right time. I had a hard time with understanding why his symptoms would need to worsen before this lesion was removed but the difficult truth of it all is - the surgery my son requires is literally the most dangerous sort of brain surgery there is. Pineal Cysts sit in the deepest part of the brain and most Neurosurgeons won't even touch this part of the brain until worsening (ahem, life threatening) symptoms arise. Doctor Shahinian is a Skull Base Surgeon and has actually invented surgical instruments with NASA to make endoscopic brain surgery more do-able and he is the one I will trust to remove this lesion when he says it is time. Luckily, we get to speak with him again on Friday. I am terrified of what he is going to tell us either way. Waiting is the worst but so is the thought of brain surgery. Hoping for brain surgery is even scarier but this little boy deserves to live his life pain-free and surgical intervention is literally his only option.
Doctor Shahinian told me to wait a year so I did. I tried to put it in the back of my mind and not obsess over it. I concentrated on helping my son with the things I could help him with and we dove head first into Physical Therapy, Occupational Therapy, Speech Therapy and more. We went to Genetics like the first Neurosurgeon suggested and we found our son has a Rare Chromosomal Deletion but since his father carries the deletion they felt that it was a benign finding. We saw Nephrology and discovered a horseshoe kidney that is for now operating at 100% with one doing 60% of the work and the other doing 40%. We went to Cardiology and thankfully found out his heart is "beautiful". Genetics tested him for several other clinical diagnoses but came up empty handed and told us to come back in two years in hopes that new testing may arise. So they had no genetic proof for the cause of my son's global developmental delay, hypotonia or any of his other health issues and diagnoses with are now pages long.
The year went by quickly doing all of those things and Abram was scheduled for a follow-up MRI (back at the hospital where the Radiologist failed to even note his mass lesion) and of course to our dismay our appointment got screwed up courtesy of a careless nurse not reading her reports and filing his MRI with the incorrect insurance which we had not had nor paid for in months. So, we had starved our son for 14+ hours by the time I stormed into their office with my screaming toddler who was beyond consoling at this point. She needed to see that her actions actually has an impact on her patients. A two year old who is non verbal and who has been diagnosed with an Intellectual Disability cannot comprehend why he cannot eat or drink. They would NOT let us get the MRI even though I offered to pay cash. I was disgusted. I filed a complaint and we ended up going back to the Children's Hospital for the follow-up MRI.
Our normal health care provider called us the next day with the Radiologist report which stated my son's lesion was "unchanged". I should have known better. When we went to see our Neurologist for a follow-up he didn't even know we'd gotten the MRI even though I had called his office THREE TIMES to let him know it was done and that we were coming in for discussion. He never had a consult with us about this MRI and I am not convinced that those images were ever even looked at. He did send the images on to the same Neurosurgeon's office whose nurse totally screwed us over on Abe's follow-up MRI and some time afterward I got a call from said nurse informing me that there was no need for follow-up. The Pediatric Neurosurgeon had no need to see us.
Fast forward 60 days and my son is in an ambulance after what we thought at first was a Night Terror that turned into God knows what. A seizure? Aspirating? No one knows. He spent three days after that on a video EEG that caught NOTHING and then another ambulatory EEG that caught nothing. And let me tell you... putting a child with Sensory Processing Disorder through EEGs is like putting them through torture. My son was so upset that by third day of the Ambulatory EEG that he'd clawed through most of his gauze and shredded it t pieces and managed to pop of eight of the sensors. I just asked for them to end the study at that point. What's the point? It's not accurate if the sensors aren't on. They weren't going to stay on. It was pointless. I was informed then that we were "out of monitoring options" because they were convinced they'd prove that it was seizures causing my son's issues. We have officially had a sleep deprived EEG, two 3-day Video EEGs and an Ambulatory EEG and they have found no evidence or proof of seizures.
So I went down to the Hospital in person and got a copy of my son's most recent MRI and was SHOCKED to read that the Radiologist reported that it was unchanged when in fact it had GROWN. I was beyond mad. I called his office. They would not let me speak to him to explain this to me. I called my Neurologist and he told me I'd need to see the local Pediatric Neurosurgeon. I called my health care provider whom I cannot get ahold of on the telephone and it's been two weeks.
After explaining to our Neurologist the issues I had with his friend he referred us on to the teaching University to a "new" Pediatric Neurosurgeon up there. This of course took two weeks and four phone calls to get. I'm honestly questioning myself on why I'm even going back there after how their Neurology Department treated us last year but I'm going to try to be open-minded about it. Maybe this guy will not be a total egotistical maniac. If he is... you might hear me screaming.
In addition to traveling up to the University we also have an appointment with the Skull Base Institute to speak with Doctor Shahinian.I'm scared shitless of what he is going to say. Waiting is awful. Yet, if he does tell us its time - Abe's Medicaid will not pay for us to go out-of-state for a surgery like this and I do NOT trust the people in this state with something as delicate and life-threatening as brain surgery. The surgery costs in upwards of $300,000 but if it comes down to that I have faith that fundraising will help us get what we need as SBI allows for down payments, monthly payments and the like. I will do anything possible to heal my son of this terrible ailment.
So that, my friends is our Journey with Neurology, Neurology, Genetics and the very real fear that is happening to my son. I am beyond thankful for my parents who have given us unconditional support and my friends who always send an encouraging word when I need it the most. To sum it up... this fucking sucks but my son is amazing and resilient and strong. He will overcome this and most likely will not remember any of this craziness. I however, am screaming on the inside and cry a lot when he's not looking. Just so proud that I have people to count on including friends who do research and hand-deliver it to show these jerk Neurosurgeons in Iowa that there is real facts published in Medical Journals proving that what my son has is in fact symptomatic. (Cecil, if you are reading this - you are my hero.)
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.
There are days when it is hard to stay positive. Weeks even. I try my best to keep this blog "positive" as no one wants to read "poor me" posts but sorry friends, today is not one of those days.
I try to stay focused on the accomplishments and improvements that have been attained instead of thinking of all the things we haven't gotten to yet. The truth is, the majority of the time Abram is fussy and uncomfortable. He is almost *always* fussy and not feeling good. Please do not confuse "fussy" with unhappy, though. Abram is clearly in pain in ways he is unable to express to us verbally but he still tries to smile and will still muster a giggle immediately after being bent to his extremes at Physical Therapy or after getting jabbed multiple times to give blood. He loves the part of life where he actually feels good. I just can't wait to find out how we can make them come more often for him.
The last few weeks have been bad. He has been incredibly fussy, easily irritated and back to a nearly newborn schedule as far as sleep goes. I have been one tired mama. Today he had his Physical Therapy at ChildServe and we cut it short today because he was just so fussy and absolutely not having any of it.
When we came home, I fed him a bottle and laid him down for a nap. Within 15 minutes he did this really scary scream/cry - the kind of scream that most parents have to pull themselves off the ceiling from... and I ran into his room. He was on his stomach, with all of his limbs stretched out, face down (but with his head turned to the side, thankfully) and he was just screaming and crying a weird cry I'd never hear before. When I picked him up his entire body was limp. He was crying like he was pain but his body was just dangling there and he had no "real tears" coming out. He was like that for what seemed like ages and I didn't know what to do. I wasn't sure if it was a bad dream, if he was really even awake and just sat in his room and rocked him. Finally, he opened his eyes up and looked at me for a little bit while I sang to him and he just let out a big sigh (the gasp,gasp... heavy sigh that kids do after a good fit) and he went right to sleep.
At that point, he napped for a little while and when he woke up he was still unconsolably fussy. He wanted to eat but was acting like his bites of food were hurting him. So, I decided to run him to the walk-in clinic where as (un)luck would have it, our old Pediatrician was the walk-in doctor for us today. I hadn't seen him since I ditched him for another Pediatrician, so I felt awkward at our encounter but I'm pretty sure he has no clue that I've been seeing another Doctor for the last six months.
Anyway... I wasn't too thrilled that he was the doctor we got since he never noticed any of the issues we are having and didn't agree he was behind on his milestones until he was 10 months old. Alas, that's who we got and he gave Abe a thorough exam. He said that he was "fine" physically and had no ear infections/issues so due to the fact he has so many other issues going on that he was going to refer us to get an EEG done on him now as well. The Doctor was thinking that perhaps he was having a mini seizure (as this has happened on a less grand scale one other time, during the day as we were playing). He sent us on our way and told us to expect a phone call from a Nurse telling us the time/date of the EEG appointment.
I went ahead and called the Neurologist and spoke with his Nurse about what happened today. So at this point, we are waiting for him to look over things and he will getting back with me on what he wants us to do. Some seizures can be common in infants but adding this to everything else that is going on with his Pineal Cyst Lesion and his Hypotonia (and lack of knowing what is causing it) and I am just concerned that this can be another symptom of whatever it is that seems to be missing from this puzzle. As I have mentioned before, Hypotonia is typically a cause of an underlying disease and disorder so until the things I fear get crossed off the list our Neurologist has in mind - I prefer to stay on the side of caution!
When I saw my son like that, I nearly came out of my own skin. Holding your child and having them be non-responsive and just dangling there conscious but unconscious is really quite scary. However, I remained calm and did the best that I could in that situation. I'm just hoping that it gets figured out quickly. I'm so tired of having another "bad" thing happen. I've already had one good cry this week that resulted in a regretful migraine so instead of another good cry - I'm staying strong and doing what I can to help my son.
It was a rough day but this little man still remains in good spirits! He can be having a terrible stay and still find the time to give a smile or make a goofy face. Even if he follows it up with his infamous "beagle howl". It is these little moments that make all the scary moments worth all the fear and anxiety. If he can still smile and laugh after all that he has been through in his short little life.... than this Mama can get him through anything.
Enjoy the video. :)
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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