After 4 years of relentlessly fighting to change laws for medical cannabis for Abram, I was able to attend the invite-only Grand Opening of MedPharm Iowa. We got to tour the grow facility as well as the labs where they will be making my son's medicine.
I cannot express how grateful I am that this is happening in our state for Iowa's sick and suffering. I am honored to know the amazing women who fought for this to happen in 2014, who I feel played a crucial role in my son being well and celebrating over 3.5 years of seizure-freedom and who I am lucky enough to call my dear friends. I will always be thankful to you ladies for blazing a trail so that kids like Abe could get the help they very much needed.
I am especially grateful to MedPharm Iowa who always make it a point to include patients and caregivers in their plans and try their hardest to deliver products that we all need. They took a chance by investing $10 Million Dollars just to help Iowa's sick and suffering so that families like mine can give their children a quality of life that they deserve.
I cannot express what it mean to see plants growing in Iowa and knowing that soon enough, my son will have the medicine he needs, right here at home. Our dispensaries open in less than 30 days I couldn't be more proud and happy.
An Interview About Abram
Des Moines Register - Photos of the Grand Opening
As I was taking Abe in to school to get his Kindergarten pic taken, I had the harsh reality of seeing how other children look at my son and my heart shattered into a million pieces.
I've seen those looks before. The side eye. The mouth gape. The leaning away from him as if they could "catch" what he has just by sitting or standing next to them.
I hate it.
I can't help but to think things like: what do your parents teach you about children like Abe? do they tell you things that make you scared? do they tell you things that maybe they themselves as adults don't understand but they are too afraid to ask? do they say mean things about him?
Then I Wonder:
Does Abram understand that they are being cruel? Does it hurt his feelings? Is this why he cries and is sad when he comes home?
I don't know because he can't tell me.
I've seen him try to engage other children and I've watched kids just get up and walk away from him as if he's invisible. It is gut wrenching.
I want to just say this:
Please teach your children to be empathetic to ALL people. Show them how to be kind, how to make new friends with people who may not communicate or look the same as they do. Teach them to say "hello" instead of telling them to look away. Show them how to be good humans. If they treat another person unkindly, correct them and show them how to apologize and start over.
Children learn from example. Do your best to be the smiling face in a room full of scowls and show your kids how to be kind, empathetic little humans.
Hello, Everyone. I haven't posted in a while and haven't been very consistent with my posts lately and for that I apologize. The year 2018 for us has been a difficult one for Abram as his self-injurious and aggressive behaviors increased at school and then we spent hours meeting with different specialists to get to the root cause of the flip/major increase in his behavior. We sought help from Neurologists, Behavioral Therapists, Developmental Pediatricians, Autism Specialists and everything else in-between.
In May, Abe had an overnight EEG to rule out seizures (he still has focal and generalized discharges but they are no longer going into seizures) and Mayo Clinic diagnosed Abram with behavioral dyscontrol. To put it in simple terms, due my son's brain abnormalities, epilepsy and atrophied hippocampus, he simply cannot help his impulses. Add to that his intellectual disability and Abe spends a great deal of his life feeling out-of-control - at least this is how the psychologist recently explained why he is so "bossy" about certain things.
After our Mayo stay, we decided to try a medication called Guanfacine - a non-stimulant blood pressure medication that is prescribed off-label to treat children with ADHD. Thankfully, his self-injurious behaviors (SIBs) decreased immensely and although it will most likely never be perfect, it has been an easier couple of months. However, we've also been on summer break and out-of-school so the true test of the medication will be when Abe starts Kindergarten next month. To give you an idea of who often his SIBs were happening, on his worst day with his aide at school in the spring, he'd hit her and his peers 53 times and he'd banged his head into objects 23 times in just 3 hours. Today, he bangs his head a handful of times and hits about the same amount but it is manageable and almost always has an obvious trigger.
Children with self-injurious behaviors not only risk damaging their beautiful little faces, teeth and eyes but they can give themselves serious brain injuries by doing it - which is exactly how Abram found himself in the ER last week with an assumed subdural brain bleed and a terrified mom and grandma.
Abram had hit his head pretty hard last week while he was with his respite worker. Head banging isn't unusual by any means but he'd hit it (3) times on his swing and had done it so hard that it shook the floor above it where my mother and I were chatting. I didn't think much of it since it's a normal occurance but by that afternoon he had vomited and by the morning, he was screaming in pain, holding the back of his neck and vomited again.
We'd just by chance had an appointment at the University Hospital so we headed out on the 2.5 hour drive to go see our Developmental Pediatrician and the Psychologist who was supposed to do the official ADOS testing for a possible "official" vs "clinical" autism diagnosis. When we arrived, Abram was very much not himself. He was still screaming/crying in pain and holding his neck. I'd shared what had happened the day before and the moment our Pediatrician entered the room, she informed us that we needed to go to the ER right away as she feared he had a subdural brain bleed. She walked us right to the ER, explained to the staff that he has self-injurious behaviors and that he'd need a CT scan, immediately.
I made the mistake of googling a subdural brain bleed while we waited. BIG MISTAKE. But I digress, the getting of the CT scan in and of itself was traumatizing for poor Abe. He's been through so much medically that the sight of medical equipment sends him into flight or fight mode which makes things even more difficult. Because he is medically traumatized, he is literally unable to lay on a CT scan like a neurotypical child may be able to do.
Instead, he'd need to be sedated and thus we started our scary journey of watching him be drugged with benzodiazepines to which he had zero reaction and then ketamine. He'd gotten so much medicine that I had to sign a waiver that it was possible for him to stop breathing and they had a crash team in the room to help him with oxygen, heart monitors and the possibility of intubation. It was terrifying.
Having a team of 5+ doctors in the ER circling your child - just waiting for it to go badly is absolutely terrifying and one of the scarier experiences I've had so far. Much to the shock of the ER team - Abram literally never went to sleep. The doctor and nurses eyes kept getting bigger and bigger as Abram kept moving and responding to stimuli. At some point, he was at least out-of-it enough to be able to be strapped down to the CT scanner with large velcro straps and I had to put on a lead vest so that I myself could hold his head still while it was in the machine.
Shortly after that, he began hallucinating so we had to wait a long while for the medication to wear off before he was released from the ER. Thankfully, this time his CT scan came back normal (aside from his actual brain abnormalities) and we were able to leave and go back home. However, the reality of how bad head banging and self-injurious behavior rang true. It was a scary situation but thankfully it wasn't more severe and our son got to leave the hospital without proof of an additional brain injury (aside from the one he was born with).
We got lucky and appreciated everyone's kind words and love when it was happening.
I had the opportunity to speak at a press conference this week put on by Iowa's only licensed medical cannabidiol provider. I was able to share Abram's story and did my best to sum up the last 5+ years of our life in under three minutes!
Afterwards, I was interviewed by channel 5 news - you can see that piece below! (Just click on the picture). The interview took place in the elevator because Abram refused to be interviewed anywhere else! haha! They are in fact his favorite place to be.
My speech went as follows:
My name is Erin Miller and my son, Abram has been a registered Medical Cannabidiol patient since 2015.
Abram has a rare medical condition called UBE2A Deficiency Syndrome. It is a genetic disorder that has caused him to have epilepsy, brain abnormalities, Kidney defects, immunodeficiency, and autism. So far, less than 50 people world-wide have been diagnosed with UBE2A. So, Abram’s medical team are officially learning from him and not vice-versa.
Abram has had great success using CBD to treat his seizures. Today, he is currently 2.5 years seizure-free!
By using cannabis, we were able to wean him from a psychotropic drug called Klonopin. A benzodiazepine that increased his seizures, stole his words and caused him to regress physically, mentally and cognitively.
Today, Abram is 5 years old and can finally say “mom” again. He is making new sounds, knows over 50 signs, and he can identify most of the letters of the alphabet! I have no doubt that medical cannabis has given my son these gifts.
However, Abram still struggles. Along with the numerous medical conditions come behavioral issues, self-injurious behavior and outward aggression towards others.
In February, Abram began to exhibit these behaviors at school. On his worst day, he hit his school staff and peers over 50 times and he hurt himself over twenty times - resulting in huge bumps and major bruising on his forehead. As a parent, it is heart wrenching to watch. Our son’s behavior flipped like a switch and no one knew why.
We reached out for medical help but Abram’s numerous doctors and specialists could not find an issue in which to treat him acutely. It was suggested that we trial an opiate medication to rule out pain from his brain abnormalities but we decided the side effects of that medication were too risky after what Abram has already endured. I don’t feel comfortable putting my child on an opiate when the rest of the country is begging to get OFF of them.
In states like Minnesota where autism is a qualifying condition, many families see phenomenal improvements in severe aggressions and self-injurious behaviors. Especially in states where they have access to unhindered dosages.
After much discussion with Abram’s medical team, we decided to increase his daily CBD:THC and added in a third lunch-time dose to see if it would help Abram at school.
The results have been pretty astounding. His daily aggressions and self-injurious behaviors are slowly starting to go down. He is sleeping better. He is making more sounds and mimicking us. When we read books to him at night he is starting to copy the sounds of the animals that we read about.
Last year, I shared Abram’s story with the Medical Cannabidiol Advisory Board and why we need them to recommend the removal of the 3% THC cap. With the current law as-is, I will be unable to give Abram an effective dosage of cannabis oil to treat his numerous health issues.
By Christmas, our program will be up and running. Without changes to our current law - nearly all of the patients who have approved conditions will not be able to get products to effectively treat their conditions, including my son.
We need legislative action NOW - not next year. To make families like mine wait another year is unjust and cruel. I’ve already been fighting for access more than half of my son’s life already. Please help us.
Thank you for listening to our story.
Last March, Abram had the opportunity of a lifetime to be gifted an adaptive trike through the Variety Club of Iowa. His wonderful Occupational Therapist nominated for him to receive a bike and it is the one physical activity that he can do without fear. Abram has hypotonia, an abnormal gait and abnormalities in his brain that affect his vision in a manner in which he has a hard time with different terrains, stairs and other situations other than walking on flat concrete/flooring.
Riding a bike gives him a freedom he doesn't know in other aspects of his life. His face lights up. His little feet go as fast as possible and he flies! On an adaptive trike, he is able to just be a little boy with the wind in his face and the wonderful feeling of just speeding down a hill pedaling as fast as he possibly can. He doesn't have to worry about what his feet are doing because they are strapped in. He doesn't have to try hard to keep his hands on two separate handles as he has an adapted steering wheel on his trike as well. When he's on his bike - it is the only time in his life where is truly just free to be a little boy. It is the best thing to watch and something he worked SO HARD on to be able to do.
After participating in last year's Variety Telethon, my husband took it upon himself to start an employee giving program at his place of employment and last fall we were able to gift another little boy with a similar chromosome disorder his very own adaptive trike as well. It was the best feeling to see my husband do something so wonderful for another family and to get his employer involved in such a wonderful local charity that not only gifts adaptive trikes to special needs kids but they also provide funding for vans to transport children to doctors appointments and therapies, they work with Iowa communities to prove all-inclusive playgrounds, they help provide equipment and building expansions to much-needed therapy centers in Iowa and they help families who are struggling with the expenses of having medically complex children. Being able to participate in a tiny part of what they do makes me incredibly proud and happy.
In the fall, we were asked to participate in their new ad campaign. In all honesty, Abram had a hard time with the photoshoot and became overwhelmed, very agitated and cried so we were worried that they wouldn't be able to use his photos at all.
Imagine my shock when a friend wrote to me one day and informed me that they saw my son on a billboard in the city. I was so excited my friend Deb and I had to drive down just to see it in person. Seeing my son on a trike on a billboard made me beam with so much pride! He's worked so hard to be able to even ride a trike, especially when an orthopedic surgeon told us when he was an infant that he may never walk due to the nerve damage he received during his traumatic birth. I was beaming with pride and I was SO excited.
It turns out, he is on multiple billboards across the city and is in several different ads as well. We've driven around just to go and see them. There's just something so amazing about seeing him glowing in the night on an electronic billboard - it is literally a giant glowing example that NO doctor can set limits on what your child can or can not do. The only person that will dictate where Abe will go in life and what he will do is Abe. We are just here for the ride.
Abe - You are the light of my life and I am so proud of you. You work so hard to achieve your goals and no matter how difficult the road is - you do it with a smile on your face.
If you are interested in learning more about the Variety Club, please visit their website: varietyiowa.com/learnmore!
In honor of yesterday's "World Rare Disease Day" I wanted to share a little bit about the connections we've been able to make since Abram was first diagnosed with UBE2A Deficiency Syndrome.
It's been a little over 2 years since we got the diagnosis of UBE2A. Abram's case was the first that the University of Iowa, the University of Chicago and Mayo Clinic had ever seen! I was relieved to finally have an answer and immediately tried finding other families through Abe's blog and lots of digging!
Now, we know TEN other families from around the globe. I cannot tell you how amazing it is to have a group of moms and dads who can help answer questions and offer guidance. When doctors and geneticists admit that they are "learning from Abram" it is very important and special that we have these other families to rely on for medical information as they have or are currently already living it.
These phenomenal moms and dads have helped us understand certain parts of Abram's condition and have alerted us to things that our doctors didn't even know to look out for! When it comes to rare genetic disorders, how lucky are we to have the power of the internet to connect us all?
A extra special "thank you" to Tracey Stedman Harris who lost her sweet boy Nathan and continues to help guide families like ours! You can read Nathan's story on the UBE2A Brothers.
Here are some of their sweet faces and I'm sure you'll agree that all of our boys share that amazing award winning grin! <3<3
Today is World Rare Disease Day so we wanted to share some facts with you about rare disease and what it means for Abram to have UBE2a Deficiency Syndrome.
In the US, a condition is considered "rare" if it affects fewer than 200,000 people. Abram's condition has fewer than 50 people acknowledged in medical literature world-wide and we have been beyond lucky to have found and connected with 10 other families world-wide!
Here are some facts on how Rare Disease impacts people:
• Rare Diseases impact more people than AIDS and Cancer combined
• 50% of the people affected by rare diseases are children
• 30% of children with Rare & Genetic Diseases will not live to see their 5th Birthday
• Rare Diseases are responsible for 35% of deaths in the first year of life.
• 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease
Abram was diagnosed with UBE2A Deficiency Syndrome when he was 3 years old after years of waiting and trying to find an answer as to what was causing all of his health concerns.
This syndrome is x-linked so only males are affected. It can be inherited or it can occur spontaneously - like in Abram's case. It is characterized by certain (extra cute!) facial features as well as possible heart, brain, genital and kidney malformations. It also included moderate to severe intellectual disability, global delays, impaired or absent speech and seizures.
UBE2A (ubiquitin conjugating enzyme) is a protein that helps to tag other proteins with ubiquitin for degradation. Although researchers know the gene that causes these symptoms, they know very little about how this protein works within the cells or how the deficiency of UBE2a works within the cell.
We know that there are researchers interested in learning more about UBE2A and we hope that by sharing our son's story - that we can meet more families and someday have a foundation of our own.
By now, I'm sure that all of you know that Abram has a rare gene mutation called UBE2A Deficiency Syndrome. For Abe - this has caused him to have brain abnormalities (cortical dysplasia), a large pineal cyst in the center of his brain, hypotonia, fused (horeshoe kidneys), funky big toe nails, epilepsy, autism, intellectual disability and he is non-verbal.
We are lucky in the fact that we were able to try CBD oil (Haleigh's Hope) after other pharmaceutical medications had failed him. We are lucky that we have found something that not only increased his cognition but helped his seizures immensely... we are currently over 2.5 years seizure-free because of Haleigh's Hope.
In advocating for medical cannabis in our state, we are often told that we should "wait for FDA Approval" for our son's treatment from many doctors as well as our law makers.
Many people don't understand the gravity of rare disease but this infographic really brings some important facts to light!
When rare disease impact more people than AIDS and Cancer combined - yet only 5% of rare diseases have an FDA approved drug for treatment, families like ours don't have the time to wait.
I truly hope that Iowa's Medical Cannabidiol Board and the Iowa Legislature do the right thing for their own rare patients. We need to expand the conditions for our medical cannabis program in addition to increasing or removing the THC cap all together.
When your child or loved one has something rare, with little help or understanding of how to help, any treatment that can improve the quality of life should be made available to those who need it most.
Yesterday, I got a message from non-profit that works with genetics in the UK about UBE2A Deficiency Syndrome. At first, I was excited to hear from the person who reached out as they stated "We’re trying to get a survey to people affected by UBE2A gene variants to get their views on how the condition impacts affected people, their families and carers in their day to day lives. I was wondering whether you might be willing to look at the survey, and perhaps share it with the group?".
However, when I read what the purpose of the study was, I was mortified. First, I want to say that I fully believe in helping people understand the impact of my son's condition. It is important for people to learn about these rare gene variants so that children like my son have treatments for their symptoms/side effects from their rare condition. Yet, thinking and/or actually realizing that this survey's intent was to make sure that they present "an accurate picture of the effects of this condition on patients to the HFEA as they make a decision on whether the condition is ‘sufficiently serious’ enough to licence for PGD."
What is PGD? I didn't know either, but it stands for "preimplantation genetic diagnosis." It is "a technique that enables couples with a particular inherited condition in their family to avoid passing it on to their children. The process allows potential parents to conceive a child who does not have the genetic condition that they are at risk of passing on. PGD is used when one or both parents has a known genetic abnormality and diagnostic testing is performed on an embryo to determine if it has also inherited the abnormality."
I'm not sure how/where hope for treatment turns into absolute horror at the idea of someone wanted to genetically modify a child like my son to (for lack of a better word) "fix" him. I find this absolutely heartbreaking and horrific. It ruined my day and it made me cry.
Our first years were admittedly a struggle because we were fighting for a diagnosis and learned he had something quite rare. Once we learned the name of what to call the proverbial "it" of my son's diagnosis - things got easier, we found our tiny tribe of eight (and counting!) families to share our children's stories with!
Part of the survey's questions included all of the personal information about Abram's physical and intellectual issues but also what I would say to the board of the Human Fertlisation & Embryology Authority (HFEA), who is deciding whether Abram's condition is "sufficiently serious" enough to license for PGD.
This is my response:
If I could speak directly to the Human Fertlisation & Embryology Authority about UBE2A Deficiency Syndrome and its impact on affected individuals, their families and carers, I would say this:
My son, Abram has UBE2A Deficiency Syndrome. His condition is a de-novo mutation meaning that I was NOT a carrier of the genetic syndrome that my son lives with. This simply means genetically that if I were to have another child, I would have less than a 1% chance of happening again. Abram was a less than 1% chance of being Abram. Those are pretty extreme odds if you ask me! To be able to bring such an intensely loving, life-changing little boy into this world makes me feel pretty darn lucky.
Yes, having a child with a UBE2A gene variant is life-changing but not in the manner in which you think. When people only look at the side effects/symptoms of a diagnosis they fail to see all the amazing things that come into your life because of it.
To think that people would look at my sweet boy and NOT want him makes my heart hurt in a way I never thought it could. To think that his life is not worth living as-is just seems so wrong to me. We have our struggles but without them our lives wouldn't be as full or as rich. Without Abram - without UBE2a impacting our lives - we wouldn't know what it's like to truly appreciate the little things. Our lives slowed down, we love harder, my relationship with my husband solidified even more and our child's story inspires people.
UBE2A Deficiency Syndrome comes with its ups and downs but the with the therapy appointments and doctor appointments comes an entirely different family. Our son's therapists become like family - you get to add more people to the long list of folks who love your child and want to see him do well. School becomes more personal because you have someone working with them to help them succeed and when you see other children reaching out to your child in kindness, you remember how good the world is.
I would say to prospective parents who carry the UBE2A Gene: Do not be afraid. Do not look at case studies and decide who your child will be based on a list of things that may or may not happen. Look instead at the actual lives these children live - with families who adore them and people whose lives they touch because they are the kindest souls you'll ever meet. With award winning grins, these boys will change your life and your world for the better and with them will come a small tribe of your very own special community who will have your back through thick and thin. Let love win.
So to answer your questions: my son's "distinctive" facial features, his funky hair swirls, (kinda gross) big toe nails, skin abnormalities (oh no, a birthmark on his bum!) and his weight pretty much make him one of the cutest kids I know.
The rest of the things you mentioned (seizures, behavior issues, digestive problems) are things ANY child could have: 1 in 26 people have epilepsy, in my state of Iowa, 66.3% of ALL kids between the ages of 2-12 have behavior issues and digestive issues are extremely common - 60-70 million according to the NIH. Please realize that I'm not in the least bit minimizing these issues. Epilepsy has definitely impacted our life immensely but to NOT have a child with UBE2A because it *might* happen is difficult to bear when epilepsy in general is not uncommon!
Life is imperfect and filled with chance encounters that may or may not impact the journey you had expected to be on. Having a child with UBE2A Deficiency Syndrome has changed me as a person. It has made me a better human being and it has taught me the true meaning of empathy, compassion and kindness. It has taught me to see joy in the little things and to savor each milestone and everything that our son CAN do. We celebrate each milestone as a BIG VICTORY and we took the things we were told he wouldn't do and turned them into the things he IS doing. Diagnoses do not define a person's worth.
I would choose my son a million times over. Abram is smart, clever, charming and funny. He loves hugs, he thinks kitties are hilarious, he's a little gentleman pulling out chairs for ladies at the dinner table and he opens doors for strangers. He waves hello to everyone he meets, he adores babies and he exudes kindness. My son's life is worth living as-is and I wouldn't change it for the world. UBE2A is nothing but love.
In this house we celebrate the little things. This year, I found my joy in the fact that Abram was interested and able to tear into and open his own gifts. It wasn't long ago that the sound of tearing paper would send him over the edge and we would have to retreat while everyone else got to open their gifts. This year he wanted to open ALL the gifts.... even his cousin's.
When he really liked a particular toy or gift, he'd sign "open, open, please!" and have us pull the toys out of the box right then and there. His favorites so far were a large garbage truck, a cool semi his grandma got him that shoots cars out the front of it and a very special swing he can get into. I was hesitant about the swing and was worried that it might not be a good fit for his sensory needs. We'd tried something similar at therapy years ago and it did not go well, so I'd put this purchase off for a great deal of time. It turns out, he LOVES it and could spend a great deal of time just hanging there getting pushed in it. By the time he's done, he's literally folded in half and happy as can be.
My favorite part of the Holidays is getting to see all our favorite people. My dad was able to come visit us and he brought Abram a school bus from he and his wife, Dorie. Abram LOVES his Gramps n' Nana so he always gets so excited to hear that his Grandpa is coming for a visit and of course I have a video of such excitement. The fact that he says "yeah" seriously makes me want to cry all the happy tears.
Two of my oldest and closest friends were able to stop by with their husbands. I am always elated when our friends are able to come and visit. We live just far enough out of the city that it requires effort and planning to do so. I'm very lucky to have these great people in my life. Especially when the embrace my child and love him like he is their own family. Abram is lucky to have a very special "auntie" or two.
We also were able to see my husband's side of the family and spent Christmas Eve day with all of his cousins, his Grandparents, and he even got to play a fun game of "Plinko" where he won $16 and he was quite proud. He definitely did not want mom taking the money for safe keeping. He wanted to hold on to it tightly, which made me giggle. He had a blast putting the coins into the plinko game and was so excited to sit on the floor and open all his new toys. He now even has his own little dedicated device to watch his youtube videos on which is something that helps him calm down and gives him much enjoyment!
For me, the true meaning of joy is seeing Abram overcome his fears and do the things that people told us he may never do. He is such a hard worker and fights hard for the abilities that he has and the hurdles he's overcome.
Seeing my little boy getting excited to see his family at Christmas is heart-warming. He's such a sweet little boy who wants to be friends with everyone. He has so much happiness inside of him that I turn to him on hard days and he always finds a way to make me smile. His hugs are amazing and I couldn't be more proud of him.
He's been through so much, he's accomplished even more and every single year he seems to do all the things that we were told he may never be able to do. In 2017 Abram learned to say "mom" again, he learned to ride an adaptive trike, he mastered a rock wall, he's running, learning to do stairs, learning to communicate with an iPad and is making new sounds almost every day. He never ceases to amaze and surprise me and I cannot wait to see all the wonderful things he'll be doing by Christmas next year.
I hope that your Holidays brought you joy and happiness - even if it is simply the sound of your child tearing gift paper or getting a hug from someone you love. For us, all the important things are indeed the little things in life and I am grateful for all of them.
Hi! I'm Erin. I am a single mom, tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.