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%.
Today is like a new birthday for Abram... as it was one year ago now that we took a leap of faith and began using cannabis oil to treat our son's seizures.
With his diagnoses: UBE2A, pineal cyst and grey matter heteropia/cortical dysplasia he will never have a normal EEG nor is he "cured" of his Epilepsy. (I'm only stating that so people don't confuse his current success with not needing to worry anymore because Epilepsy is a cruel beast for which there is no cure and we must always be prepared!)
However, we have been given a great gift. We have been able to see our son thrive and grow. We have been able to wean over 3/4 of his last Benzo. We have changed minds and maybe even a hospital policy.
We have fought for law changes and have met our local Representatives, U.S. Senator and Congressman to tell them our story in hope that it helps change their mind so they help other people too.
Abram has come a long way physically and cognitively. He's giving us kisses, making sounds, growing like a weed, becoming social (and BOSSY!) And he's finally able to just BE a little boy who loves kitties, fire trucks and who thinks farts are hilarious.
If and when another seizure strikes, I know that we have amazing support because this journey also brought incredible people into our lives whom we never would have met otherwise.
Cannabis oil gave Abe a quality of life we never knew existed. I never expected to be here. I had no idea I would have to fight for law changes to get a medicine our sons doctor felt was best, yet here we are.
Abe has taught me so much and brought so much love and light into my life. Happy Seizure-Free Birthday, Bubster! In another week you turn 4! Mama loves you so much!!!!!!
We use Haleigh's' Hope and it has changed our lives.
Just before Christmas last week, we received a phone call from our Genetic Counselor at the University of Iowa. Over the summer we had met with a Geneticist again after our son had several new diagnoses and we were thankfully too impatient to wait another year to pursue answers.
The answer to the cause of all of our son's medical diagnoses is officially called "UBE2A X-Linked Mental Retardation." It is rare and we are the first case that the University of Iowa has ever seen. There are only 8 other cases noted world-wide and counting ourselves and another family I was lucky enough to stumble upon via Facebook of all places - that totals just 10 cases amongst just 7 families so far. This has absolutely blown my mind.
I will admit that I sobbed through reading the entire case study that was written in 2006. It was hard reading that out of all 8 patients cited in the study that none of them spoke. Other commonalities include my son's pineal cyst, seizures, his "dysmorphic facial features", large fontanelle (that didn't close until he was nearly 3), hypotonia, funky toe nails, puffy feet, skin abnormalities, his intellectual disability, fused horseshoe kidney, seizures and his brain abnormalities as well.
We were told that the Geneticists are officially learning from Abram and that there wasn't anything that they could tell us to do besides what we are doing already. Abram has been in multiple therapies a week since before his first birthday and gained the ability to walk just last Christmas. Reading that he may never speak hit me hard but I am doing what I can do to help him communicate the best. We are already in Speech twice a week, have been working on Feeding Therapy for over a year and he has Occupational Therapy as well every week. We are doing exactly what we need to be doing to give our son the best life possible.
The SLPs we have working with Abram are amazing: one works towards Neuro-Development with breathing, pressure points and learning some signs while the other works on eye contact and making requests appropriately as well as mimicking gestures and hand-movements. All these tasks require the hand-eye coordination that he needs so badly to be able to sign better vs. approximations and to eventually learn how to use PECS.
Searching for an answer and a diagnosis was a difficult task. There are many people out there who feel uncomfortable with genetic counseling and feel that physicians "tear their children apart" visually. When doctors and specialized physicians look at my son they see macrocephaly, dysmorphic facial features, a transverse palmer crease, hypotonia, diastasis recti, hypoplastic toenails, hypotonia and an epileptic. I was honestly RELIEVED when we met our first Developmental Specialist who looked at my child and starting at his head went down his entire body pointing out the physical markers of what she knew to be a part of a bigger picture.
We now know that "bigger picture" is the UBE2A gene mutation.
With Genetic Counseling comes the discussion that you could pass this on to another child. Abram's condition is "x-linked" which means that the mother is a carrier OR it could happen spontaniously. I plan to get bloodwork done to find out if I carry this gene mutation and what precautions I need to take for my own health, if any.
Genetic counseling from here focuses primarily on reproduction. Despite the fact that I personally hadn't planned on having more children - this diagnosis would not prevent me from having another child. The gentle tip-toeing that happens when it comes to diagnoses like this and future pregnancies makes me sad. To think someone would NOT want to have a child because of this diagnosis breaks my heart. This little boy has taught me so much about life, love and to slow down for all the little things. His smile can melt the most bitter heart and his hugs make all my petty thoughts go right out the window. He is Abram and the world has so much to offer him. I would choose him all over again. Without this diagnosis I would have missed out on an entirely different world - a world I could not picture myself without.
Does this diagnosis change things for Abram? No. We will have to continue to do what we have always been doing. We will provide all that we can to ensure that he has the best life possible. Will sharing our story possibly help someone else down the road? Yes. Absolutely, Yes!
Abram will now inevitably be a patient in a future case study on UBE2A. Optimistically, when another parent reads about "Patient #9", he will give another worried parent hope that their child will be able to do so many more things that the case study states. This is a new syndrome. Perhaps someday it will have a name and it is most likely under diagnosed.
So much of Abram's future depends on intervention and therapy now. The only thing that I can do is to continue to share our story and our successes. I hope that by doing so I can meet more people with this diagnosis who are going through similar struggles. I hope that Abram can blow this whole "absent speech" thing out of the water but if he doesn't I will help teach him other ways to communicate. His facial expressions already say so much more than words ever could. Life is too short to concentrate on the things that he cannot do.
Abram can light up a room with his smile. His laughter can wipe away any tears. His fierce love (ahem - obsession) of kitties is heart warming. His hugs light up my word.
Diagnosis or no.... there is ALWAYS HOPE.
With love from Iowa,
**Updated to say this: Even our Geneticist felt extremely uncomfortable using the term "mental retardation". The case study that I was given to learn about my son's condition began by telling me what a burden people with this diagnosis are on society. Sadly, so many people have used the words used to describe a medical condition and use them in a hurtful way towards people. Although this is our son's medical diagnosis - there are better terms for this condition such as "intellectual disability" and I hope that the medical profession catches up. A medical diagnosis is what it is. It isn't anything to be ashamed over. It is a diagnosis and nothing more. It doesn't define our son, nor will it ever define him. Abram is more than a diagnosis and more than a word. If you find yourself using "mentally retarded" as an insult to someone - please think twice about it. You are hurting more people than you know.**
Hello, Everyone! Last Friday, we were given the opportunity to meet with US Senator Joni Ernst. I had previously met with her Regional Director and had written her a lengthy letter back in October. The day after I had posted my letter here, I had a phone call from Washington D.C. letting me know that Senator Ernst wanted to meet my family and talk with us in person about our concerns regarding cannabis oil.
We met Senator Ernst at the Federal Building in downtown Des Moines with our friend and fellow advocate, Sally with the Iowans 4 Medical Cannabis group. Senator Ernst was waiting for us and kindly greeted us at the door with a smile. She even held the door open for us so I could push Abram through the door and into the office in his stroller. We were able to sit with the Senator in a room where she apologized for the mix-up in responses and immediately wanted to hear all about Abram and the struggles that he has had.
It's always hard to figure out what to say when folks ask that particular question because there is SO MUCH to share and it's been a long 3-and-a-half-year struggle to get here. We are finally in a place where he is functioning and not in pain, so the little boy people see today, is not the same boy you would have seen seven months ago. So, I started our story with last October and shared with her my largest concern about our journey regarding Pharmaceutical Drugs. Pharmaceutical drugs can be helpful in some ways but in some cases the detrimental effects it has on a child is horrific.
I had taken the time to print out all the known side effects of the last two Pharmaceutical drugs that my son had been prescribed. I made sure to highlight each of the side effects that Abram has experienced in yellow so that the Senator could see the side effects my son had to personally struggle with. For just two prescription drugs, there was a total of 14 pages worth of known side effects.
The first drug I shared with her was Klonopin, a benzodiazepine. According to the Stanford School of Medicine, "Klonopin is very habit forming (addictive) and may become so in only 2-4 weeks of use, causing psychological and physical dependence." In addition to and much to my horror, Stanford states that "Klonopin's effects on children, including possible long-term effects, have not been thoroughly studied."
The side effects my son has experienced on Klonopin include drowsiness, behavioral disturbances, irritability, speech problems, constipation, agitation, sleep disturbances and more. Many of the side effects that are listed, I may not know due to the fact that he is non-verbal and he can't tell me what is hurting. I made sure to let her know that BEFORE we added in a benzodiazepine, my son was able to speak at least 3 words and has since worked nearly an entire year now to get his words back but to no avail. I also let her know that thanks to cannabis, we have been able to cut this medicine by more than 1/3 and are hoping to wean him completely off this drug at some point.
The second drug I shared with Senator Ernst was Keppra. The known list of side effects of Keppra wasn't quite as lengthy as Klonopin but it also hasn't been around quite as long either. The U.S. National Library of Medicine states that appropriate studies have not been performed on the relationship of age to the effects this drug has on children younger than 4 years of age! Yet, this drug is being given to children well under the age of 4 without anyone blinking an eye. No one is crying for more research like they do for cannabis. My child was only 2 when he was prescribed that medicine and it was a drug that our local Neurologist told us he would never have put him on! We had been sent out-of-state for help and they didn't listen when I told them that our child already had behavioral issues. Some of the known side effects of Keppra include aggressive, angry, anxiety, change in personality, crying, headache, irritability, quick to react emotionally, restlessness, shaking, trouble sleeping, etc. To follow-up what "Keppra Rage" was, I then showed Senator Ernst the video of my son on Keppra. The day I made that video was the day I finally decided upon trying cannabis oil and we have never looked back.
We let Senator Ernst know that my son has not had a seizure since we started Abram on Cannabis oil in June and that we are going on six months of happiness since we started him on CBD. I hope that by sharing the side effects of the pharmaceutical drugs versus a little boy in real-life who is alive and thriving thanks to cannabis, that the Senator understands how important her support is in the Senate.
When the topic of the safety of cannabis arose, I showed the Senator the labs of the particular strain we are using. I can get more information about what is and isn't in my particular bottle of cannabis oil than the information I can get from a pharmaceutical company about a particular drug. Children like Abram are so sensitive to everything that having a natural, organic choice in lieu of a chemical option is incredibly important. Just last month we were given Klonopin made by a different manufacturer and it had a negative impact on Abe. We happen to have a great Pharmacist who changed it right back but many people aren't aware of these sensitivities.
Senator Ernst then talked about how she wanted to see more research done before she made any decisions on specific bills. At that point, I gave her a hand-written note with the information for the US Patent regarding Cannabinoids as antioxidants and neuroprotectants. I let her know that according to the patent currently held by the United States Department of Health, cannabinoids are non-toxic. The patent even states: "No signs of toxicity nor serious side effects have been observed...even in large acute doses of 700 mg/day." I also let her know that the cited research within that patent goes back to 1942. Our son currently needs what our Neurologist refers to as a "micro dose" of CBD and has seen great seizure control and cognitive gains. I'm fighting for an expanded medical marijuana bill because as my son grows - CBD may not be the only thing he will need. It is realistic for us to prepare for the need for something stronger and CBD unfortunately doesn't work for all kids. Every child deserves a legal chance at being seizure free.
We quickly ran out of time but I gave the Senator one of the "Cannabis is Medicine" tees we made to raise awareness in Iowa before we left. I hope one day I will get to see her wear it. In the end, I hope that our meeting has helped show US Senator Joni Ernst that cannabis is medicine and that it can help. I hope that it will help her realize that marijuana needs to be re-scheduled (or even de-scheduled) so that research our Politicians claim needs to done, can actually be done legally and at the Federal Level.
I hope that our story helps her see that Medical Marijuana is more about health and quality of life than it is about someone getting high. I hope that she sees that expanding the uses of this medicine could help thousands if not millions of people.
Many thanks to US Senator Ernst for meeting my family and hearing our story. It meant a lot to my family that she took the time to meet with us and hear about Abram and how cannabis has changed his life. Now we are hoping to get her support in Washington D.C.! Regardless, she was kind to us and she gives a good hug.
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.
Last night was my first town hall meeting and the very first time that I spoke publicly about my son's health care issues and needs. It was hard for me to do and very emotional. I was so nervous when I was handed that microphone that my heart was beating in my chest. I honestly can't even remember exactly what it is that I even said but it went something like this:
"Hi. My name is Erin Miller. My son has been a patient of Unity Point since he was a tiny baby. Your Neurology Department found the mass in his brain at 10 months old. They guided us through his first Ambulance Ride and following Hospital Stay and they were the ones who gave us our son's Epilepsy Diagnosis last October. Your Neurologist also was the person who encouraged us to try CBD and then was unable to sign our card for us. So, I'm curious as to why your Hospital has a policy against CBD when your Physicians feel otherwise".
As I said this, I could see the woman sitting next to me furiously shaking her head "no" and instead of allowing the Nurse Practitioner (who was the one speaking at this event) to answer, the woman seated next to me was handed the microphone.
She introduced herself as Chaney Yeast, and promptly informed me that what I was saying was incorrect and that they do not have a "policy" against CBD. I don't recall what else she said because I was absolutely floored at what I was hearing. As soon as I heard her say her name I knew exactly who she was. Unity Point's lobbyist who fought AGAINST the CBD Bill in 2014 was sitting right next to me. She also happens to be the Manager of the Regional Child Protection Center at Blank Children's Hospital.
When I first started getting involved in legislature, I read about Chaney Yeast in the news because she was the woman who stated publicly that “We don’t know if families use it for their children that maybe four years from now they could contract cancer or something like that.”
I found it interesting that a woman in the crowd was trying to tell me what I have lived and experienced for the whole of 2015 was untrue. I let her know (with microphone in hand) that their own COO had spoken with me on the matter and that I have a letter from him admitting that they won't back it until the FDA approves the use of such oils.
We each only had 3 minutes so that conversation went quickly but I scooted next to her on the bleacher and showed the before and after photos of my son and told her of all the improvements that he has made courtesy of the CBD. I explained to her that her Hospital was unable to help us on more than one occasion and that it was difficult to understand how a Physician can tell us behind closed doors to try a medicine and then not give us legal access by signing our Application for a Registration Card. I reminded her that I'd written to their CEO and their VP only to be ignored. But she held fast to saying that none of their Neurologists feel comfortable with CBD or signing for anyone.
I was hoping that hearing what we'd gone through with the ups and downs of diagnoses and medical emergencies and their own physicians throwing their hands up in the air and admitting defeat in not knowing how to help - and admitting to us that they didn't know what to do would make her realize how poorly their hospital policy is affecting people. But... she held on to her point that Unity Point does not have a "policy" against CBD - that they are just waiting for FDA Approval. However, they as a Hospital actively lobbied against the CBD Bill in 2014 and will clearly continue to do so which breaks my heart for all of the other children who suffer, who need help and who are being ravaged by pharmaceutical drugs.
So, I decided to look up the definition of "policy" to see for myself if I was missing something. What the difference is between not acting on helping a patient (while waiting for approval from the FDA) and the literal definition of "policy" was. Here is what I found:
noun, pol·i·cy often attributive \ˈpä-lə-sē\
Definition of POLICY1. a : prudence or wisdom in the management of affairs
b : management or procedure based primarily on material interest
2. a : a definite course or method of action selected from among alternatives and in light of given conditions to guide and determine present and future decisions
b : a high-level overall plan embracing the general goals and acceptable procedures especially of a governmental body
Perhaps I am just reading the Dictionary wrong but it seems to me that their actions definitely prove that what they are doing is indeed a "policy" but that is clearly my own opinion. As a mother whose child has been directly impacted by this (non) policy - this is just hard to swallow. I just don't understand why they aren't helping.
She tried telling me that we are on the same team and fighting for the same things but I disagree. I don't think that it is okay for a Physician to tell a scared set of parents with a sick little boy that a) they don't know how to help and b) tell them that they should give CBD a try and then not actually be able to help. She told me that she knows that none of them are comfortable signing for the cards. In my opinion, it is wrong for them not to sign when they themselves felt that it would benefit our child. A hospital's non-policy or hesitence to not help and even hinder the cause says everything that it can possibly say without even uttering a word.
Clearly, I am thankful that our Physician told us to try CBD a handful of times before we finally decided to pursue that option. If he hadn't done so - my son would NOT be seizure free today. My son wouldn't have those awful side effects from CBD like cognitive gains, sleeping, eating, playing with other children, actually being able to play with toys and improving on his fine and gross motor skills like a champ. That physician saved my son's life. And even though I am angry at him for not standing up for what is right or what he felt was best for our child... I am thankful for him telling us about it. I understand that he is an employee and has to follow the guidelines set upon him by his employer like anybody else. It just happened to affect my family personally and I took it personal as most rational people would.
Last night was an emotional night for me and of course I barely slept a wink because all I could think about was "what if". But I can't think that way anymore. I'm changing all those "what ifs" to What Now.
I am doing all that I can for my son. I am a good mother. I am a fighter. I am an Advocate and now that makes me an Activist, too. Standing up for what you believe in is hard. I sat in those bleachers with tears pouring out of my eyes as I spoke to that woman but I said what I wanted to say.
We definitely aren't fighting the same fight but in the end, she gave me her card and I shook her hand. I just hope that she listened and actually heard.
TODAY marks 115 days SEIZURE FREE courtesy of CBD.
We finally made it to the Mayo Clinic in Rochester, Minnesota last week. I must once again thank everyone for the help they sent our way in the spring so we were able to afford to stay out-of-town while our son needed to be in appointments throughout the Mayo Campus for the last week.
We FINALLY have an extensive medical team standing behind us and for us. The level of care and compassion at Mayo compared to anywhere in Iowa was beyond any expectations that we had. We did not get good news but it was news we needed to know and it is never easy to hear unexpected results after your child undergoes his fifth sedated MRI at just over 3 years of age.
In the last 7 days we met with a new Neurologist, Neurosurgeon, a Geneticist, a Genetic Counselor, a Genetic Researcher, a new Developmental Pediatrician, ENT and Sleep Medicine Physician. My son had to endure an MRI with lumbar puncture, multiple blood draws and a 16-point sleep study and another Video EEG in the last week.
They used a different kind of MRI machine on Abram in Minnesota called a 3 Tesla. (You can read about it here.) Basically, this MRI takes thousands of images in comparison to the hundreds that are taken here. Which means a clearer picture of what is going on within Abram's brain, literally.
Sadly, they found that in addition to the Pineal Cyst they have also discovered that Abram's brain has multiple abnormalities. It turns out that while he was developing, some of the gray matter in his brain did not "migrate" out to the outside of his brain. So, he has certain types of brain matter within the white matter of his brain that is not supposed to be there and he also has grey matter within his cerebellum.
These changes are what they feel are causing Abram's seizures causing him nearly all of his issues including his inability to retain language. They are not sure if he will ever be able to speak but they aren't ruling it out, either. So in that way, we will just keep on doing what we have been doing and immersing him with as much therapy and outside help that we can get. We FINALLY have an SCL and Respite Team that we adore and are working TOGETHER to do the best for Abram.
We also have been advised to do a Full Exome Genetic Test. In doing so, it will check all of Abram's Genes and see if there are any abnormalities that the three of us don't share. From there, they can try to narrow it down even more if they happen to catch something. We have joined Mayo's Research Study so any testing that happens after the Full Exome will be covered in full in trade for our DNA.
Many people don't understand the point in doing this sort of testing but this is what they need to understand: Genetic Testing is not to figure our what is "wrong" with our child. It is not to be used to point fingers at which parent a child got handed down a gene from. This is about how to prepare for our son's future. This has the potential of not only possibly catching something to help Abram live the best life but it also has the potential to help other families who come after us. Abram's story, diagnoses and genetics has the great chance of helping another child and another family know what to expect. This is about doing what is best for Abram. If they don't find an answer - so be it. If we find a causative gene - we can help pave the way on how to best prepare a family with a similar diagnosis.
The EEG found that his brain fires all of the time from all over the place, due to the fact that he has grey matter where it shouldn't be. There is no surgical fix for that type of seizure so it is something he was born with and will always have.
In addition, the feel that the pineal cyst is significant and want us to get another scan in 6 months. I was hoping that this would be the last time they would tell me it was "incidental" and "not causing any issues" and we could go on with it. It just sucks is that the reality of it is that it requires constant monitoring. And constant worries about the effects of the Anesthesia on our son.
The best news was that when I shared that my son was on CBD and had been 9 weeks seizure free they all didn't look the least bit shocked and were pleased to see that it was working. It was even referred to as an "innocuous drug" and without side effects.
I was told that there was NO NEED for the change in meds (in addition to his Clonazepam) and that if nothing's broke - you don't fix it.
CBD has given my son the first summer in his life where he was able to enjoy it. He laughed more. He loved more. He got to be a little boy for the first time in his life.
He got to run the first time and get a skinned knee at his Grandpa's. He got to go to the splash pad and have fun with other kids. He got to go to the play area at the mall for the first time ever without hightailing it for the car because it was too overwhelming.
We didn't get the answers we wanted but we got the ones we needed. I officially know that I am doing all that I can for my son. We officially have a TEAM of medical sub specialists who are willing to help us and take care of our medically complex boy.
I have written to you (Bill Leaver and Kevin Vermeer) several times since June with no response. Julia is listed as a contact for media on the Unity Point website and I have not received a response from her either. I called and left a message for Mr. Vermeer's assistant last week and did not receive a response that way either. Incase you didn't receive them before, you can find them by scrolling past this email to the bottom as they are also included in this email.
I have shared my story with the Des Moines Register, Associated Press, the President of the Iowa Senate as well as with all of the Republican House and Senate Members. Senator Grassley's office admitted that they were aware of your hospital policy not allowing your physicians to sign off on the CBD cards, which I found shocking. I also have contacts at most of the major news outlets for television as well. I am sure Iowans would be interested in hearing that the non-profit and publicly funded hospital who touts in their commercials about how much they care for sick kids are blocking an already extremely limited bill that parents fought so hard to get.
Perhaps my last emails were too lengthy but it is difficult to share my son's story without it. I am not going to write why I think CBD is a good choice for my child. Your hospital has made it clear with its policy that you don't trust your own doctors let alone the parents of your own patients to decide what is best for their children.
So I will just share with you some facts about my child's healthcare journey. My son just turned 3 this month. In those three years he has had to fight so hard to do things that other kids and families take for granted. Two years ago, I was informed that he has a mass growing in his brain and that the mass would most likely cause seizures and that it would require surgical intervention at some point in his life.
The mass is circled in yellow below. Due to that mass, my son has to go through routine MRIs which are dangerous in so many ways to a young body. Yet, your hospital won't let us have legal access to a medicine which is anti-tumoural and anti-seizure. Instead - you would rather us put him through MRIs and multiple sedations to make sure it isn't growing. So every six to nine months we have to say goodbye to our son and pray that he wakes up from sedation and that he doesn't stop breathing during the procedure again.
In addition to the mass in his brain he also suffers a Rare Chromosome Disorder called 7q31.31 which deleted the KCND2 gene, which also pre-disposes him to Epilepsy. He is just ONE of THIRTY-FIVE people in the world who are known to have this.
We learned all of this before he turned 18 months old. However, on top of that he was also diagnosed with Hypotonia (he was unable to walk until he was 30 months old), Sensory Processing Disorder, Microganthia and more. His diagnosis list doesn't stop there but due to the fact that you have zero care in the world for what my son is going through or what my family is going through. After all, your paid Lobbyist/Employee/Manager of Child Protection at your hospital stated publicly that “We don’t know if families use it for their children that maybe four years from now they could contract cancer or something like that.”
We have seen three Neurologists and five Neurosurgeons. We have been to two Nephrologists (one who incorrectly diagnosed my son at YOUR hospital - forcing us to go to Iowa City), we have been to the CDD to meet OTs, PTs, STs, Developmental Specialists, we have put him through FOUR EEGs and FOUR MRIs and we have seen countless other specialists like Endocrinology, Orthopaedic Surgeons and Cranio-Facial Surgeons. We have been to the MN Epilepsy Group and are heading to Mayo for their diagnostic clinic in the upcoming months as well due to the fact that no one in Iowa can put the pieces together for us.
I am writing you because I think that if you even took one look at these kids and the lives that they live you would understand that they need help NOW. My son needs reprieve.
His Generalized Seizures and Abnormal Brain activity make is so that he never gets a break. Can you imagine getting shocked all day, every day and even while you are sleeping? Could you imagine how the lack of sleep would make a person feel? My son has never had a full good day. My son has never had a full night's sleep. My son has never had a summer or a spring or a winter without countless appointments and that doesn't even count his therapies. Can you imagine working for months and even years on learning words only to have them taken away by a seizure? Can you imagine how hard it is as a parent not to hear your child call you Mama?
It is heart breaking to try to share his story with people who are so against a medicine that may have the chance of changing his entire quality of life. A medicine that has been proven in other countries and other states to be effective on Epilepsy. However, my son doesn't just have Epilepsy. He also has that mass in his brain that I shared with you.
If that were your child - wouldn't you rather take the slight risk of giving him a medicine that could have the possibility of not only taking away his seizures but also shrinking that mass in his brain? A mass that all of our specialists are waiting to grow. A mass that has doubled in size since 2013. A mass that can cause life threatening and irreversible neurological damage.
If that were your son's brain - wouldn't you want to take the risk of giving him a plant in lieu of waiting for the most invasive brain surgery there is for your toddler?
If that were your son - wouldn't you appreciate the Executives at your own child's hospital taking the time to respond to your concerns?
Please sirs. Change your policy on CBD. Please help my son.
I haven't had the courage to post here very often because when I try to tell this story over (and over) again I just get angry. After Abe had his ride to the Children's Hospital in October in an ambulance I thought that maybe we'd have answers. We went through a 44 hour VEEG and then a 22 hour Ambulatory EEG and had no events or episodes that we noted. I went all that time and all of those weeks thinking that they had just disproved seizures. WEEKS went by and we heard no news. None. At my follow-up appointment, I was told that his EEG was "abnormal" but I needed to re-schedule the next appointment with my husband so he could go over the EEGs with us. So we did. It was then that he told us that he has "Generalized Seizure Disorder" and that his EEG was "very very abnormal". He described it as "his brain is firing from all over the place all of the time". Then he gave us a list of medications in which we should look into and chose which anti-seizure med we needed to choose. Luckily, I have a great relationship with our Pharmacist who helped us pick based on his extensive knowledge of all that is Abe.
We chose Clonazepam over the rest in hopes that it would help is serious lack of sleep, his agitated mood in addition to helping his seizures. December was THE BEST MONTH we have ever had. All of our friends noticed just from his pictures that he was so happy and he felt sooooo good. He had a shine in his eyes. He smiled. He played with toys. He walked unassisted for the first time in his life at 30 months. He fed himself with a fork for the first time all right before Christmas. Everyone said "he seems like such a different little boy".
But then it changed. So we upped his Meds in January, February and March. For most of the month of March I called begging for help to our Neurologist's Office. We were trying to set up peer-to-peer conversation between our local doctor and the Skull Base Surgeon who had been following Abe since he was 10 months old. Our Neurologist had admitted that he needed outside help. I even wrote a research paper for him on the 7q31.31 deletion and our Geneticists findings as well as the info I had from the only 4 other families in the country who have similar but not the same deletion but I never got a response regarding my findings at all which basically proved that the 7q31.31 had no other patients who suffered from seizures.
After our Neuro and the Skull Based Surgeon's first peer-to-peer, we were told their concerns were things were structurally changing within the brain. We needed an "urgent MRI" that got pushed back a week. I bawled my eyes out. Then we got the MRI and it showed that in addition to his "11+mm prominent pineal cystic lesion" he now has a new 2cm occipital cyst as well and there are changes in his hippocampus and his temporal horns. It took another 10 days for these results to be discussed with the Skull Base Surgeon (who wanted to give us an even later date but our doctor refused).
Just last weekend, he had a seizure with his SCL on that Friday, by Saturday he was crawling and by Sunday he could only take a couple of steps before he collapsed and had to crawl the rest of the way. I called the "on-call" Neuro who asked me "What do you want to do?" In some occasions, it's great to have a doctor ask you that. However, that occasion is NOT when your toddler is having Neurological Issues and no one ever even really discussed with you what that REALLY MEANS or what to look for... that is not what you want to hear.
So, she advised us to give him an extra dose of meds and bring him in if it still continued. And it did. So we went to the ER. We were admitted and told he'd need another MRI and no one would even call to discuss with our Neurologist. So they prepped him for said MRI and full sedation (with breathing tube, etc) by giving him an IV (which is horrific for him, in so so many ways) and starving him. By 7pm that night he was a WRECK. They still didn't have a sedation team to do the MRI so they let him eat and then we had to withhold food again until his MRI that was to be at 8 am.
Eight o'clock in the morning came by quickly and after waiting several hours more and with Abe having a nervous breakdown, the MRI was canceled and my son was able to eat. By 2pm that day, our Neurologist told us the Skull Base Surgeon still said he was not a surgical candidate for the pineal cyst and had no other advice. No word about the Seizures or the changes in his hippocampus or temporal horns. No mention of the new occipital cyst. No explanation. No nothing. We were told that they didn't know how to help us and that we needed to go somewhere else.
Having your Neurologist tell you they don't know how to help your child is overwhelming. I'm NOT angry with him for that at all. I feel lucky that I at least have a doctor who is honest with me and WANTS to help my son get to someone who can help. It's an incredibly scary journey when the specialists need to point you in another direction.
Hi! I'm Erin. I am a single mom, tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.