When your child has an extremely rare diagnosis and the doctors inform you that they have nothing to share with you on what to expect or how to proceed you feel 100% utterly alone in the world. It took over three years for us to get Abram's diagnosis and when we did - I scoured the internet searching for someone to share this journey with. During that intense search for other boys like my son, I found Kelli.
Buried deep in a year's old Facebook post I found her asking a premie group: Does anyone else have a child with a diagnosis of UBE2a? I immediately wrote her a message and became fast friends with her and her husband. For two years we've cheered one another's boys on and shared the triumph and the grief that come with the unknown of a rare syndrome.
When I learned that there was a Global Genes Rare Advocacy Patient Summit in their state, I swallowed my dignity and my pride and set up a fundraiser to get ourselves to California to meet them and the end results have been nothing short of a miracle for my family.
From the moment Abram and I walked into their hotel room, it was clear that these people were meant to be our family, too. Abram and I were right where we were meant to be. I didn't have to explain anything or apologize for the fact that Abram wanted to open and close their closet door a million times because from the very second we stepped foot into their lives in REAL life - our boys were interested in doing the same thing. Jackson immediately said "hiiiii" and my son ran into Kelli's arms like he'd known her his whole life and gave her the biggest hug. The boys played in the bathroom and the closet and Abram crawled right up in AJ's lap. Family is all about love and with this family, we have a bond that is even thicker than blood. Our bond is tied right up in our sons' very own DNA and I know that my life has changed forever.
Not only have they been supportive of us since we got our diagnosis but we share a similar path. Abram is two years older than their sweet Jackson but they have similar likes and dislikes. One of those dislikes being Hollywood Boulevard. Haha.
The conference itself was not what I was expecting as many of the seminars were geared more towards the medical professionals than parents who have children with rare diagnoses but regardless, I was able to gather information from the vendors at the event that may be helpful in the future (and helpful to my friends whose children have yet to get their diagnosis). It is still just a hard pill to swallow realizing that even the biggest people in the fields of rare genomes and rare disease have never heard of your child's medical condition. But, we educated people on what it is, what its symptoms are and had the cutest boys showing them that they can do anything they set their minds to.
This family gave me experiences I never thought I'd have in my lifetime from actually being in California, to seeing Hollywood and watching Abram see and hear the ocean for the first time. This trip was heart warmingly overwhelming. Seeing how this family embraces these boys and how these sweet girls took Abe in as if he were their own sibling - engaging him, playing with him, talking to him just made my heart melt. In my heart and my head all I could think about was how special and unique this family was and how much love they had to give and how lucky we were to be a part of it. At that very moment (and from here on out) we became family and I hope that as the years pass - we can visit them often.
To those who helped us make this trip by helping with our fundraiser - you literally changed our lives. Thank you so much for giving us the gift of an extended family that we will forever share an unspoken bond with. Coming home was hard but having this experience and meeting another family living and following a similar path was the best thing that has happened since Abram was born.
The more we share Abram's story - the more our UBE2A family grows and despite the fact that the tiny handful of other families we have met string across the globe from New York to Scotland, England to Australia and Ireland - I know that someday - we will ALL meet and share our boys for the sweet little miracles that they are. This is only the beginning of a life-long friendship and a new extended "family".
In addition to meeting Jackson and his amazing family - I also had the opportunity to meet two other moms who I have spoken to for years. Moms who have helped me through many a hard day and moms who are on a similar journey with rare diagnoses, epilepsy and autism. And like meeting the DeStasios, our time together was effortless and seamless - like we'd been friends forever. Sharing our stories and our children with one another over the years has been the one thing that has gotten me through many a dark night. People who don't live this life don't understand why it's important to share Abe's journey but in the end - sharing him with the people who WANT to know more has been key in understanding him better. Connecting with other families and children with rare diagnoses is the best thing that has ever happened to me. These kids have SO MUCH to offer the world and I am so proud and honored to know all of you. You are ALL my family now. I love you guys.
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.
Last Friday, my family along with another Iowa family had the great opportunity to meet with US Senator Charles Grassley. The Senator was gracious and allowed us twenty minutes to discuss with him the obstacles our children have faced in regards to their medical history, lack of seizure control before CBD and to discuss the Compassionate Access, Research Expansion, and Respect States Act of 2015, also known as the CARERS Act.
Many people in Iowa don't quite understand the gravity of the matter when it comes to US Senator Grassley's involvement in medical cannabis. To our family, not only is Senator Grassley an Iowan, he also sits as Chairman of the Committee on the Judiciary and holds the key to families like mine gaining legality at the Federal Level. Without Senator Grassley allowing the CARERS Act to a vote in the Senate, families like ours will continue to fear being prosecuted at the Federal Level regardless of our state's laws.
Senator Grassley was kind enough to get down to the details on the CARERS Act right away. He shared many of his concerns with this bill including the worry that by allowing each state the right to create their own marijuana laws, that the United States would inevitably end up with 50 different marijuana laws. The Senator feels that it is important for marijuana laws to have uniformity regardless of the fact that 23 states already have legalized some form of marijuana. Senator Grassley also shared his concern that smoking marijuana is not supported by medical research. However, the type of medicine we use for our children comes in an oil form and is taken sublingually. The Senator also discussed that he did not care for the banking section of the CARERS Act at all. When I asked if that part of the bill could be discussed and changed if it were allowed to go to vote in the Senate, he said that it could. So as a parent, I am having a hard time fathoming why the CARERS Act is not being allowed to be sent to the Senate for a vote when the items that the Committee on the Judiciary find concerning would actually be up for discussion at that point.
As we chatted, our families talked to Senator Grassley about the side effects our children have faced due to pharmaceutical drugs. Abram's quality of life seriously diminished after he was prescribed Clonazepam, a benzodiazepine. I shared with the Senator that according to the FDA, there is no clinical trial experience with Clonazepam in patients under 18, that 30% of the trial patients had nervous system damage resulting in Ataxia, and that the adverse side effects on mental development could not become apparent until many years later.
At that point, I presented the Senator with a little informational brochure. The imagery shows the regression of my son on too much benzodiazepine and the progression he made with the addition of the CBD. You can see in Abram's eyes that his life was improving. While looking at this image the Senator's eyes widened and he said: "You really CAN see a difference, can't you?"
In addition to the FDA's trials on the particular drugs that reeked havoc on Abram's health, I also brought along the patent held by the United States Department of Health and Human Services that proves that Cannabinoids are safe and non-toxic up to 700mg. Abram only needs a small .10mg dose twice daily to have 100% freedom from physical seizures. I asked Senator Grassley why marijuana was still on the list of Schedule I Drugs when their Patent 6630507 proves marijuana in fact does have medicinal value but I did not get an answer.
Senator Grassley just reiterated that there is a lot of movement towards medical marijuana and that research on CBD is not on federal barriers. He reminded us that he and Senator Feinstein wrote letters to the Department of Justice and the Department of Health and Human Services asking them to classify CBD separately from the whole marijuana plant. He also reminded us that the federal government also removed the Public Health Review process that marijuana researchers had to undergo, a move that has allowed marijuana to be studied under the same amount of restrictions as other Schedule I drugs. To give credit where credit is due, Senator Grassley has taken a few steps in the right direction but we need more action from him and our federal government and passing the CARERS Act to the Senate for a vote would be a great step.
I tried to explain that CBD has been great for us and although Abram is seizure-free right now, the reality is that with our son's rare UBE2A gene mutation, the need for stronger medicine will most likely be a reality. (People often mistake Abram not having seizures right now as Abram being "cured" and that he'll never have a seizure again. This thought is foolish and I must clarify that regardless of AEDs and CBD, our son's brain is permanently injured, he has a neuronal migration disorder, already has atrophy in his hippocampus and his brain still fires irregularly all the time during the day and during the night. CBD has managed to keep those electrical shocks from manifesting into physical seizures but make no mistake - free of physical seizures does not mean free of abnormal brain activity.)
I tried to explain to the Senator that Abram is doing well right now but as he grows the need for a stronger CBD/THC ratio may become a reality sooner than later and that if/when that need arises I will have to break both state and federal laws to do just that if laws stay the way that they are. I intend to fight for Abram's right to that medicine now in hopes that when he needs it; I won't have to continue to worry about being a Felon by doing so.
While CBD doesn't help everyone, it does have the power to save lives. CBD has changed my son's life and it has changed the lives of many children that I know and love. I tried showing Senator Grassley as an example that if CBD helped just 10% of the 50,000 Americans that die each year due to seizures, that he himself would be responsible for saving at least 5,000 epileptic lives each year. Senator Grassley seemed a little exasperated at that number and asked why they would continue to push for these laws when "only" 5,000 lives would be saved. That statement took me off guard for several reasons because sitting right before him were two families and two boys whose lives had been changed immensely by CBD. Our sons' lives would be counted amongst those 5,000 lives. Yet, I couldn't help but to wonder what number of lives the Senator would deem worth saving. I would hope that ONE LIFE would be worth fighting for. While I bit my tongue, the other family spoke up and reminded him that that number was only meant as a representation of the epileptic lives he could save each year and that it didn't even include the impact he could have on the other people who suffer from different debilitating diseases and disorders.
Luckily, his exasperation at theoretically "only" saving 5,000 epileptic lives annually made a good point as to why we need broader medical cannabis laws. CBD has changed my life, my son's life and the lives of the family who sat along side us in the meeting with Senator Grassley. Our children are proof of the success that children with seizure disorders can have on CBD. Even the Senator himself could see how CBD has changed the life of my son just by looking at the photos I had given him. Our children are a testament to how well CBD can work.
However, CBD doesn't work for everyone and I refuse to fight for just part of a plant when my friend's children are still suffering. I also refuse to stop at CBD only because I myself may find that Abram needs something more as he grows and as his brain develops. Abram's gene mutation is rare and the only other family worldwide known to have this specific gene mutation lost a child at 11 to a seizure. I want to ensure that my son has legal access to whatever he may need - whenever he may need it.
Alas, our time quickly ran out and after taking our photos with the Senator we went our separate ways. Many thanks to Senator Grassley for taking the time to meet with our families to discuss how CBD has changed our lives and to try to understand how important broader medical cannabis bills are to families in situations similar to ours.
Cannabis is medicine. The government has already proven it. There are families being torn apart and lives being uprooted so people in situations similar to mine can give their child a chance at life. Please, take the time to write to your Senators, your Representatives and your Congressmen. Change needs to happen now and we need your help to stand up for what is right and speak for the little ones who don't have a voice. We are not criminals. We are parents just trying to do what is best for our loved ones, same as you.
Below is more of the "brochure" I made about Abram. Enjoy.
I think many of you can recall the mad dash I was making last spring and summer to be able to obtain CBD legally for my son, Abram. After having very scary and serious side effects on the pharmaceutical drugs Keppra and Klonopin, we had decided to pursue CBD as an option (at the urging of our Neurologist) however due to Unity Point's stance on CBD - he was unable to help us get the Cannabidiol Registration Card.
At that point, I began my fight: both for my child's health care and diagnosis and for his personal freedoms to try cannabis as a treatment option. I wrote to every single Republican Senator as well as every single Representative in the Republican House (but that's another post entirely).
I must be honest in saying that as a mother trying to fight for her child's rights - it is very disheartening to say that out of 24 Iowa Senators - only 5 have ever responded to my concerns and questions regarding my son's healthcare and his rights as an Iowan and an American. As a parent with a special needs child, I should be spending my son's nap time as my own down time but instead I sit in front of this computer tapping away on the keys begging for anyone and everyone to LISTEN.
When I began writing to the Senators and House Members, as a mother sharing Abram's story - my son's story has changed immensely. First, he was a little boy needing legal access to CBD and I was begging for help since our city's own Children's Hospital was not helping us gain legality. Now he is a child who is TWO HUNDRED AND FIVE DAYS SEIZURE FREE and I am a mother who finally holds a Cannabidiol Registration Card in her hands today. However, they need to realize that in order to get the card, my son had to endure another MRI, a spinal tap, numerous meetings with geneticists, genetic researchers and medical researchers who were trying to help us. My son finally has a diagnosis that is incredibly rare and the only other family world-wide who shares this same mutation lost a child at age 11 to an epileptic seizure. These facts make me worry, make me squirm and make me realize even more WE NEED ACCESS NOW.
So here I am, over 100 e-mails deep just to our Iowa Senators to which only five of whom responded to my concerns. My issue with writing to our state senators is this: If you have a health issue like my son's - they don't want to hear about it unless you are in their district. I hear time and time again that I need to contact my own Representative (I already have) and to contact my own Senator (he's been to our home and met my family in person).
Health concerns of a toddler is not a "district issue". It is an Iowan issue. It is an American issue. It is also a world-wide issue and phenomenon that we are dealing with. Once again, my zip code should NOT dictate if my son's story is worth responding to.
I have a friend whose child suffers similar issues to Abram and her family was DENIED access to the Cannabidiol Registration Card because her Neurologist resides at a Level 4 Epilepsy Unit out-of-state. So, despite the fact that he is the best-of-the-best in the country and supports the use of cannabidiol, that physician is not counted due to the fact that he is not an Iowan Neurologist. How is that fair? When you have a child who has rare diagnoses like many of Iowa's most fragile constituents, you are also going to be punished for being forced to get care out-of-state because our own hospitals aren't equipped or are unwilling to help our children?
My son is 205 Days Seizure Free. (My son was healed illegally for 163 of them.)
I am not a criminal. Please quit making parents choose between being lawful and being a good and present parent. Most importantly, please, take the time to respond to the parents of suffering children in your state. Please stop making children wait. We need action from you.
Many thanks to Senator Brad Zaun, Senator Charles Schneider, Senator Jake Chapman, Senator Tim Kraayenbrink and Senator Michael Breitbach for taking the time to respond to my concerns. Your time and attention to this matter is greatly appreciated.
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.**
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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