Many thanks to The Gazette for printing my opinion piece. It is much appreciated. I was able to get a copy in the mail from my Aunt (Thank You!) and was so thrilled to see how much of the page it took up. I'm so proud of Abram. He has come so far and has taught me how important it is to stick up for the people that you love. Even if it means trying to change the law to help him.
(You can read this piece online here and I will paste it as-is below.)
Senator Chuck Grassley is moving too slowly.
Earlier this year, I had the opportunity to meet with our U.S. Senator from Iowa to discuss medical cannabis. Sen. Grassley was receptive to hearing about how my 4-year-old son Abram, who suffers from an extremely rare genetic mutation that causes seizures, has been able to find relief from cannabidiol (CBD), a non-psychoactive cannabis oil that has allowed my son to live seizure-free for over a year. My son’s quality of life has greatly improved in the last year because of this and we have managed to cut by three-fourths his prescription for a highly addictive benzodiazepine — an FDA “approved” psychoactive drug that was never tested or approved specifically for children under the age of 18.
Recently, Sen. Grassley introduced the Cannabidiol Research Expansion Act which would ease research barriers and exempt pediatric patients with intractable epilepsy and their parents/legal guardians from the penalties of the Controlled Substances Act for the possession and pediatric use of CBD. Though Sen. Grassley is sympathetic to pediatric epilepsy patients, adult epilepsy patients and patients with conditions other than intractable epilepsy would be excluded under this legislation. In addition, no amounts of the chemical compound tetrahydrocannabinol (THC) are permitted. Though my son would be covered under this legislation, many other patients would be excluded and I worry where this type of legislation will lead us when our son is an adult and still in need of this medicine.
There is a large body of research supporting the efficacy of medical cannabis as a treatment for many other medical conditions such as Crohn’s Disease, Multiple Sclerosis, cancer, and chronic pain. Additionally, medical cannabis has been shown to be more effective when THC and CBD compounds are simultaneously present, a phenomenon known as the “entourage effect” – and the patients that use these compounds also deserve protection from federal prosecution. Excluding protections for these patients is sending a message that somehow the lives of people with epilepsy matter more than those with other severe conditions.
Furthermore, Sen. Grassley has been ignoring a bill that would protect all Iowans who use medical cannabis from federal prosecution. The Compassionate Access, Research Expansion, and Respect States (CARERS) Act, currently in the U.S. Senate, seeks to remedy the legal discrepancy between state and federal law, ensuring that any patient who uses medical cannabis in compliance with his or her state law is no longer vulnerable to federal prosecution.
Not only is Sen. Grassley avoiding taking action on this vital reform to protect all users of medical cannabis, he has perpetuated misunderstandings of the bill. In a recent statement, the Senator wrote that the CARERS Act would “make access to recreational marijuana much easier for people.” This is simply untrue, and he knows it. The CARERS Act is clearly focused on medical cannabis, not recreational marijuana. In a climate where 76 percent of Iowans support access to medical cannabis for those who qualify, why is Sen. Grassley lagging behind? The CARERS Act is about citizens who obey state law no longer living in fear of federal prosecution.
Lastly, the Senator has cited concerns about the banking provisions written into the CARERS bill. Sen. Grassley is entitled to these concerns, but rather than propose a weaker bill, he should talk to the CARERS bill’s co-sponsors, using his position as Judiciary Chair to reach a productive compromise. The sick and suffering families in our nation do not have the time to wait.
Sen. Grassley has stated that the government has to “ensure public safety and the effectiveness of drugs available for patients” and that it “shouldn’t delay medical innovations that could help children or others.” In this regard, I couldn’t agree more with the Senator. Supporting the CARERS Act through the Senate Judiciary Committee is the perfect opportunity for Sen. Grassley to help Iowa children and patients, while ensuring Iowa public safety while also making a major impact on our entire nation. He should swiftly take action on the matter.
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%.
Right before Christmas last year, we finally got our diagnosis for Abram called UBE2A Deficiency Syndrome. Our path to get an answer seemed arduous but when it finally arrived, I felt relief. Our Genetic Counselor told us we were the first case the University of Iowa and the University of Chicago had ever seen. We were told they had no further information to go by aside from a Case Study on OMIM. We were told to "Google" our son's gene mutation and there we would find the Case Study she was referencing online. It was then that our Genetic Counselor informed us that they would now be learning from our son.
Despite not knowing more and being unable to do more than what we were already doing, I was pleased to have a name to call our son's condition. I am sharing our journey with Genetics so the people who don't have to face these issues personally can hopefully understand the reasoning behind the need and drive for genetic testing. Parents in situations similar to ours are often believed to be wanting a "label" for their children or that one parent wants to "blame" the other for their "bad genetics". Many people don't understand why we would want our children to be "Guinea Pigs" or why we would want to agree to Medical Research Programs. I think that somewhere in their head they flash to some terrible 1980's sci-fi program where our children are caged while being "poked and prodded". This is simply not so.
So, why do people want an "answer" with genetic testing? For our family, Abram had a complex set of what seemed to be never ending diagnoses with no discernible cause. Yet, all the while, our Neurologist felt that what he had going on was the cause of some other underlying condition. He was tested for Fragile X, Noonan Syndrome and William Syndrome and all came back normal. It wasn't until his seizures worsened and the pharmaceutical drugs made him spiral into decline that we pushed for further genetic testing because there are types of Epilepsy known not to react well to certain anti-epileptic drugs. If your child had devastating and life-threatening seizures or a rare set of circumstances, wouldn't you want to know how to best help them be well?
Genetic testing has nothing to do with " wanting a label", or placing blame on one parent or the other - it is about doing what is best for your child now, what to prepare for in the future and paving the way for the families diagnosed after your child. Plus, with any luck - it will allow you to connect with other families whose children deal with the same set of similar circumstances. However, it is important for parents of typical children to understand that when it comes to health care in our Country, having a "label" is important for medical purposes.
For our son, his diagnoses and "labels" rightfully qualify him for waiver services and have enabled him to have access to various therapies like PT, OT, Speech, Feeding and so much more. For medically complex kids, "labels" help them not only with services and therapies but they help them throughout their education and it guarantees them their right to learn just like everyone else's children. So yes, families want a "label" but not for the reasons some people seem to think.
For our family, the "official" name of what to call the proverbial "it" that was affecting our son, changed our lives. I spent hours coding this very website so that if any other parent googled UBE2A they would find us. There were literally less than a dozen people in the world with this gene deficiency and even fewer known to have the same gene mutation as our son. Even more rare was the fact that Abram's gene mutation was "de novo" meaning that his UBE2A gene spontaneously mutated. If we were to have more children, we would have less than a 1% chance at having another Abram. A less than 1% chance! How cool and special is that? The best things in life really do happen by chance and I wouldn't change our lives one bit if we had it to live over.
What transpired after diagnosis has made my heart grow. Two months after coding this website, I was contacted by the medical researcher who had studied and written the very first Case Study on UBE2A. Seeing the name "Nascimento" in my inbox felt like I had been contacted by a rock star. I was elated. We have become friends. She has been able to explain to me better about how this gene impacts him and how all his diagnoses are the symptoms of the UBE2A Deficiency Syndrome. She made me cry with joy when she said that by sharing our journey we will one day be able to help other people and with all hope, help them better understand UBE2A Syndrome. Now, the very same Rafaella Nascimento, who researched this gene and gave us a name to call our son's condition, gets to know Abram. She gets to share in our grief and our triumphs. We get to learn together. How lucky are we that we live in a world so connected by the Internet? What would have felt lonely, is now filled with more people who care.
Genetic testing gave us our answer. It isn't the answer that people may imagine. In fact, it wasn't the answer that we imagined. There isn't a cure and very little is known about this condition. However, I have been extremely lucky in connecting with two other families whose boys share similar issues with the UBE2A Gene. Our boys have similar features, health concerns and delays. Meeting these wonderful parents online and getting to see the faces of my son's "brothers" is truly the best thing ever. I get to share our life journey with people who understand where we have been and what our struggles are.
Thanks to Rafaella, who reached out to me all the way from Brazil, I am waiting to hear back from the family I first read about in the Case Study who share the same mutation. I'm just elated to find people who live a similar journey and with whom I hope to meet in real life someday. All of this wonderful stuff is because we got our "label". Sometimes "answers" don't come in the way they think they will. Sometimes our "answers" are in the people we find along the way in our journey to find them.
Due to the fact that there is very little known about this syndrome, we have agreed to take part in Medical Research Programs at three of our nation's best Hospitals. These world-reknown hospitals will be following Abram's journey for at least the next 7 years. They will note his multiple health concerns, diagnoses, symptoms and any other issue that may arise with this new and most likely under diagnosed UBE2A Deficiency Syndrome. This means that the fact that we use cannabis oil (CBD) to treat Abram's seizures may play an important part in the future treatment in children with UBE2A who suffer from seizures as well. Abram's Sensory Processing Disorder also drastically improved with the use of cannabis oil and if that fact can give a family some hope, then we have done our part.
If everything that Abram has gone through can help another family with this diagnosis, that is what matters the most. In the world of special needs and medically complex children, there is another world entirely. Within it are people who are filled with love, hope and humility. People who want to celebrate with you, cry with you and cheer for your children every step of the way.
So please, stop shaming parents who want an answer for their children's medical complexities. Searching for an answer isn't about labels or blame. It's all about love and doing what is best for our little ones. Genetic testing is so much more about finding what is right than what is "wrong".
Abram was featured in June's "CULTURE" Magazine in an article titled "Abram's Biggest Advocate". You can read it online here and I will paste the article below as well. Many thanks to Jamie Solis for asking to learn more about Abe and for sharing his story!
It is written as pasted below:
Abram’s Biggest AdvocateErin Miller Discovers the Healing Properties CBD Oil for her Young Son’s Rare Condition
When Erin Miller first brought Abram home from the hospital, she knew something was wrong. Her newborn son was inconsolable and screaming constantly, however his doctors were not concerned about Abram’s behavior.
At 10 months old, Abram got sick, which led him to seeing a new pediatrician who instantly noticed something wasn’t right. Abram was referred to a neurologist, who found a cystic pineal tumor. This type of tumor is dangerously located on Abram’s pineal gland in the middle of his brain.
Erin explained, “The brain surgery is so dangerous, they wanted to wait for worsening neurological symptoms before they would perform surgery. We were warned the tumor would cause seizures, so when Abram started having seizures, we thought it was because of this mass.”
“Right after the very first dose, he stopped signing ‘ouch.’ For the two weeks after that he had maybe two absent seizures where he would just kind of stare off, and then they were gone. He hasn’t had a physical seizure ever since.”
Abram’s seizures started around his first birthday in June 2014. By October, his seizures took a turn for the worse. Abram was diagnosed with a generalized seizure disorder and epilepsy, and he was prescribed Klonopin.
Erin said, “The first month on Klonopin was awesome. We were really excited because he fed himself for the first time with a spoon. It seemed like it was going in the right direction. But then suddenly he started having more seizures, different kinds of seizures, worsening seizures, and the more the seizures came, the more Klonopin they would give him.”
At just two years old, Abram was taking more Klonopin than most adults are prescribed. Erin recalled, “I found out later that Klonopin had never been tested or approved for kids under 18.”
While Abram was on Klonopin, he lost his words and ability to walk or crawl. His symptoms worsened over time, and Erin brought him back into the ER. The following day, his regular neurologist admitted that Abram’s case was over his head, and the family would be referred elsewhere.
Before Abram was moved to a level 4 epilepsy hospital, Erin recalls the neurologist’s life-saving recommendation, “Our neurologist came in and was whispering, ‘You guys need to go to Colorado, and you need to try cannabis.’ Even though I was really angry with him for not knowing how to help Abram when I felt like he should have been helping, I’m so grateful for him telling us to try cannabis oil, because that is exactly what helped my child.”
“Since they’ve started cannabis oil one year ago, Abram has been weaned off three-fourths of Benzodiazepines, and they have one milliliter of Klonopin to wean.”
Once they were transferred to a specialized hospital in Minnesota, Erin hesitantly inquired about cannabis for her son. Instead, doctors prescribed Abram with Keppra. Abram’s side effects were terrible and B6 was added. This resulted in 14 days straight of Abram screaming constantly and even ripping his hair out.
Erin realized cannabis oil might be Abram’s only hope. Although CBD oil is legal for medicinal use in Iowa, the state doesn’t have dispensaries. Erin explained, “My only choice was hemp that could be shipped. I ordered Charlotte’s Web Oil. The first day I finally decided to do it, he was hitting his head and signing ‘ouch.’ Right after the very first dose, he stopped signing ‘ouch.’ For the two weeks after that he had maybe two absent seizures where he would just kind of stare off, and then they were gone. He hasn’t had a physical seizure ever since.” June 27th marks Abram’s one-year of being seizure free.
Around Christmas Abram switched strains to Haleigh's Hope out of Colorado. After this change, he started giving kisses for the first time. Abram also started laughing, giggling and making more sounds. Since they’ve started cannabis oil one year ago, Abram has been weaned off three-fourths of Benzodiazepines, and they have one milliliter of Klonopin to wean.
“We actually saw his neurologist last Monday, and I told him, ‘I don’t want him on this Benzo anymore. I want to see what happens if we take him off. I feel like that is what took his words. Maybe if we take him off of it, maybe he’ll get his words back.’ Crazy enough, his neurologist agreed that in November, once he hits the 18 months seizure-free mark, he is willing to have my son on cannabis only.”
Abram’s “official” diagnosis is UBE2A X-Linked Syndromic Intellectual Disability or UBE2A Syndrome for short. Although this condition is super rare, as the Millers are only the third family in the world to have this particular spontaneous gene mutation, Abram’s story is making a huge difference in the lives of countless others.
Erin is part of a group called concerned Iowans 4 Medical Cannabis, which gives Erin the opportunity to advocate for all children and adults in need of medical cannabis.
Yesterday, we had another play date with a great family we met shortly after moving out of Des Moines. It's incredibly hard meeting other parents in "real" life after you have children, let alone after you have a child with special needs! Luckily, I met Sadie at a local restaurant where we exchanged numbers and have been able to get to know one another a little better over the last year.
What I like best about our encounters is the fact that she doesn't feel the need to warn or explain to her children what Abe has going on. They don't treat him any differently than they do each other and he learns so much from them just by watching them and interacting with them.
I love that even though he doesn't have words they don't call him "baby" like other children do. I love that they aren't "warned" about how to act when they do come. These kiddos enjoy spending time over here with him and they have so much fun together.
How lucky are we that he gets three kiddos so close in age and size to come over and play and who live less than 15 minutes away? I felt so lost and alone when I met their mama. She reached out to me and for that I am extremely grateful!
Thanks for being my friend, Sadie. And thanks for sharing your family with Abe. He loves it.
Hi! I'm Erin. I am a single mom, tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.