In July, I wrote a piece on the isolation of special needs parenting. I've been taken aback from the response that I got and the fact that people from around the world (literally) read what I had written and it resonated with them. I heard from attorneys, research writers, bloggers, teachers, therapists, moms, dads, grandparents and everyone else in between.
I was absolutely blown away by the sheer numbers of people who not only read it, shared it but who also felt compelled to respond. I was relieved to hear people saying that my words were exactly how they felt, that the piece seemed to be written just for them and they wanted to cry because they UNDERSTOOD. I was thanked for speaking the truth. Special needs parenting IS isolating. Unless you are living it, you have no idea how much so. I think that the important lesson I have learned here is the fact that although we are occasionally (or more so than not) feeling left out, isolated and alone - the proverbial "WE" of the special needs community is always out there waiting to give you a kind word and a sweet nudge in the right direction. I learned so much about my fellow parents: that we ALL feel isolated and alone from time to time. I have found that along my path, a few people will try to "shame" you for feeling that way. As if admitting that life with a special needs child is hard is succumbing to defeat or that I am somehow less of a parent for not being the happy-go-lucky parent I wish I were for every second of every day. I also realize that the folks who try to shame you may be the very same people who would never admit to having a bad day let alone a bad moment where grief flickers in your heart. Let me tell you now... life is imperfect. We all have bad days. Our kids have bad days. Everyone has moments in their life where they feel lonely, abandoned or shunned. It is inevitable. Shaming other parents for admitting that their lives aren't always easy and not owning the fact that these feelings exist seems so backwards to me. I share our story in the hopes that our journey can help someone else along the way. I share the good, the bad, the ugly and all the parts in between INCLUDING the absolute joy in the little things AND the suffocating, heart wrenching loneliness that comes with all of it. I always remind myself that the good days always outweigh the bad ones. I've learned to celebrate the small things and let the mundane issues fly right out the window. Letting go and changing my perspective has been hard and will most likely always be a work-in-progress. That pesky grief sometimes sticks itself in like a nasty little splinter. I pluck it out, smooth out the wound and move on with my day. However, it is inevitable that there will be another splinter... another heartache... another moment of grief. To my special needs parents out there: Just know that it is normal to feel grief as long as you don't stay there for long. It is okay to feel sad as long as we continue to feel the overwhelming good that comes out of each day, too. We aren't alone in our isolation at all even though it can feel that way. We may be disappointed by the family and friends we thought would be there BUT how lucky are we that we have an entire community of people who are connected around the world by the very things that make us feel alone?! Changing my perspective has been hard. Letting go of the people I expected to be here was hard for me but I'm lucky that with each person who has stepped back - several more have stepped up. Sharing Abe's story has changed my life. Sharing him with people who understand him (and us!) has made this journey easier. It has been wonderful connecting with and falling in love with children from around the globe who share a similar life. We are lucky even in our isolation. Some of my favorite comments on my post regarding the isolation of special needs parenting are as follows:
Many people cannot fathom why I share Abram's journey. Many people think that it is wrong that I do so or that I "over share". However, if I hadn't shared our journey - we wouldn't have come as far as we have. If I hadn't share his struggles, I wouldn't have heard from other parents a litter farther on their journey on what to do, who to talk to or how to get things done. If, after all that my son has gone through and will continue to go through can help another family or another child not feel so different, alone or isolated - than sharing this journey is worth it. To those who are on my path and in my life - I can't thank you enough for sharing your family and your kids with us. All of you give me strength when I have none and make me so proud. My life. Our life. This is indeed our life - that proverbial "we" of the people on similar paths. The hope we give one another. The absolute love and joy that we share. The grief we admit to and crush like a bug until the next time. The honesty, the friendship and the bonds that are just as strong as blood and who in turn become like family.
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. Much love. ~Erin~ This is Abram with is personal hero (and mine!), Jason Cranford.
For those of you who don't know - he is the man who makes Haleigh's Hope (and Cannatol!) and who has given our son the best quality of life he can possibly have. He is directly responsible for our son being 2+ years free of seizures in addition to numerous other health improvements including being 100% off anti-epileptic drugs and other pharmaceuticals, finally being ON the growth chart, finally being able to go to school and participate in an inclusive preschool program and my favorite thing yet - his ability to start making sounds and evening saying "mom" at the age of 5. Jason, I can't thank you enough for what you did for my family. You are an amazingly kind, generous person and it is an honor to know you. You are doing such great things for the special needs community and beyond - and you do it for all the right reasons. Thank you so much for all you do for everyone you can. We <3 you! This kid is tired from 5+ hours of appointments at Mayo today. So, I let him eat a peanut cluster. ;)
We met with Mayo's best Immunologist and were taught what each of the different immunoglobulins do. ALL of Abe's are low but the good news is he is at least making them and they are not at zero, so that is a plus. They drew blood to re-run the immunoglobulin labs and he got a pneumonia shot that they are using to see if his body is retaining the information on how to fight viruses. As of right now - his body is not retaining any of the illnesses he has had in the past, which means he doesn't have the antibodies he needs to keep from getting sick. So, we do labs in 4 weeks to see if the pneumonia shot he got today is still present in his cells' memory. If it is, we are good. If it isn't, we have to start Immunoglobulin Therapy. I was impressed that the Doctor had done her research, had read all of the case studies on UBE2A and even gave me a copy if the Japanese study that just came out this year. She was impressed we have connected with THEE Rafaella Nascimento. Our other appointments were all mostly discussions on finally obtaining an official Autism diagnosis and our need for ABA therapy. Overall, slightly terrified at what it all means but beyond lucky to have caught it at all thanks to another UBE2A mama Tracey Stedman Harris, who continues to change lives and help the families who are navigating this rare diagnosis. Thanks everyone for your support. I remember the day vividly: it was the day before Christmas and our genetic counselor called to tell us our son's official medical diagnosis. We had waited over three years to find a cause of our son's multiple health issues and she immediately began the phone call apologizing profusely for the medical term she was about to use. As she went on, she informed us our son had a mutation in the UBE2A gene causing an "x-linked mental retardation syndrome", now known as "UBE2A Deficiency Syndrome". I was not offended by that term in this specific instance as it was referring to a medical term. Instead, I was relieved to finally have a name to call what had affected my boy's life since the moment he came into this world. I had a name to call "it" - that thing that had caused him to be globally delayed, have seizures, self-harming issues, and absent speech. The "R-word" is not not something I use to define my son but I am also not afraid or ashamed that it is on his list of medical diagnoses. Since we began this journey, I have noticed that even within the special needs community people act as if having a cognitive issue is somehow "lesser than" other diagnoses or people assume that it somehow makes him "unable to communicate or understand anything". I've been to meet-and-greets with other special needs parents who, upon introduction to an entire room of people, felt the need to share that their child is NOT affected cognitively as if it is a dark dirty thing that needs to be concealed or hidden away. It was spoken as if they were waiting for the crowd of people to usher a sigh of relief for them when many of us were probably biting our tongues. It is sad that even within the special needs community, children with intellectual disabilities are put in that "other" category at all. By acting as if an intellectual disability is something to be mad or ashamed about only further perpetuates the entire idea that having it is something unsavory. To assume a child with intellectual disabilities cannot understand or communicate with people is so far off base that I want to scream. I refuse to not speak up when I hear things like this. I have found that even those who are supposed to be closest to us say hurtful things about our son's intellect, his inability to speak (for now) and/or how he behaves. For years we were made to feel as though we were "crazy" or that we were making up what was going on with our son. Now that it is more obvious to everyone we have people asking "He will he grow out of it, right?" or "He just needs more time". Seriously, please just stop! Don't say those things to me, my husband or to anyone else with a special needs child. Please stop acting as if having an intellectual disability as a diagnosis is something to shush or fear. Abram is who he is and he has worked incredibly hard to do all the things that most people take for granted. As an infant we were told he may never walk so the fact that he is not only walking but running, jumping and walking up stairs with assistance is basically nothing short of a miracle for him at 5 years old. Abram's list of diagnoses is quite extensive and intellectual disability is just one of many on a long list - but out of all of them - having an intellectual disability is the one that people can't handle. Saying he needs more time just takes away how hard he has worked at his therapies for the last four years! Just because Abram cannot speak does NOT mean that he cannot understand you, your intentions or your tone. Just because he an intellectual disability does not mean that he cannot comprehend or communicate in other ways. Just because he has "intellectual disability" as part of his diagnosis does not mean that you get to limit his worth as a person! It is not okay or funny to joke about any part of the things he can not do, period. My little boy changed my life and my world and brought into it the best gift I could have ever received: the ability to take joy in all the little things. In our house, we celebrate milestones in inches and we find joy in the the little things most people find mundane. Having a child with an intellectual disability is the best thing that ever happened to me and I wish that people would stop acting as if his diagnosis will hinder the things he wants to do. Abram will be able to do all the things he wants to do, just like everyone else. Diagnoses do not define a person. Words, cruel personalities and unkindnesses do. Sometimes, the isolation of special needs parenting hits me in the gut like a ton of bricks. I find myself longing for meaningful friendships but realize that my life is vastly different from the days of laughing until I cried while watching a movie with my girlfriends or catching a good show. Now, I rarely get to go out. My husband and I have only had ONE NIGHT away from our son together in the last five years. One. Night.
We occasionally get invited to other children's birthday parties but Abram can not and will not handle the noise of places that involve dancing animatronics, loud games, rides or bounce houses. The sounds of children's screams upset him and let's face it - those places are full of high-pitched and shrill shrieks that most adults leave those places with headaches! Things like that overwhelm him, he ends up self-harming because his senses are overwhelmed and we end up leaving feeling defeated. Luckily, now we know his triggers and avoid them as best as possible. Summers are especially difficult as we are out of our routine and although I try to plan at least one excursion every week and/or invite someone to our home to join us we are almost always inevitably stood up, ignored or have our invitations declined altogether. Sometimes even going to the park hurts. I know the addiage of "never compare" your child to another but let's face it - EVERYONE does that at one point in time or another. And no special needs parent is comparing their child thinking "why can't my child do that?". I know, I for one am thinking something more like "You have no idea how lucky you are." because they really don't. Sometimes, I want to go shake the mom sitting on the bench with her nose in her phone and tell her "Look at your daughter! She's smaller than my knee is high and she can climb that jungle gym and go down the slide! Do you know how amazing that is?!" I get so tired of people staring at me as I help Abram do the stairs or show him that he can't simply walk off a platform or he could get hurt. I am not a "helicopter parent". What I do is necessary to keep my child safe. I'm so tired of when I DO get to see people and I try to share what is new in our world or what concerns I have about life in general for Abram at this moment in time that I hear "Oh, all kids do that!". Special needs parents hear this all the time and quite frankly, it's just not nice. For example, my son has just learned to unlock the doors and get out of the house. We will have to put in a more expensive alarm system to alert us to any window or door opening because him getting out of the house could put him in serious harm's way. Not only can he not speak, he has an intellectual disability and no concept of danger. He doesn't know he shouldn't just walk into the pond, in front of a car, into the field or the highway, get into a hot parked car or a neighbor's garage. Although "all kids" may try to get out of the house not all kids face the dangers that my son does. It's even difficult for us to attempt visiting someone else's home for a party or a brief visit. While most parents get to sit back, enjoy a beverage and chat amongst friends as their children play, I never get to sit down. I don't get to chat. I don't get to enjoy adult time because I have to make sure Abram doesn't fall down the stairs, or run out of their yard, or run into the street, or get into a parked car, or tear apart their house, or get into a closet or drawer and hurt himself. I have to be close to him incase a noise or a loud laugh startles him because he WILL punch himself in the face and/or smack his face into the concrete, the corner of a chair or anything else that is near. But all kids do that, right? I don't get to relax or enjoy time with friends. I am always on guard. This is why I practically beg people to come and visit us. I don't get out much. I don't get to see many people. Our lives the last 5 years have revolved around endless therapies, countless doctors appointments, hospital visits and more therapy. It's so much easier for people to come to me because our house is safe for Abram. Having people visit him here versus out in the world is so much easier for him because he feels safe and I feel better knowing that I can let him be in the back yard without worrying about him escaping or hurting himself. He can play and be a kid without me having to constantly re-direct him and he in turn doesn't get as frustrated either. It actually gives me the time to have a bit of a laugh and good conversation. But, people are busy and we are a 30 minute drive outside of the city. I realize it takes effort and planning to be able to come and visit us and I am beyond lucky to have the handful of people who will make the drive out to see us. I realize that and I am thankful to my friends who do that for us. You have no idea what it means to me, truly. Some days are just harder than others. Some days I am reminded of the struggles Abram has to deal with every single day to do simple things like overcoming a texture to be able to eat a food, or tolerate a noise just to be able to enjoy a few hours at the pool. Some days I see the fog come over people's eyes when they just don't even want to hear about how our life is. People tune out. They really do. They always ask to be polite but they never really want to know. It's just that this life can be so terribly isolating. And sometimes the resentment of what others take for granted sits in my throat like a two ton brick. I wouldn't change Abram for the world. He is who he is. He is stronger than most people I know and he has overcome more than all of the adults I know and he does it with a smile on his face. He is an incredible, sweet and loving little boy who makes my life brighter and made me a better person. I do my best to be positive. I spend a great deal of time every day writing back to people who need advice just as I write to others who have had similar experiences. Special needs parents have their own little tribe of people who always have one another's backs but we are usually hours, miles or countries apart. It's just that most of us wish our friends and our families would take more time to be with our kids and REALLY get to know them. Most of us wish we didn't feel so isolated. I don't share this to make anyone feel bad or feel guilty. I share this so that people can maybe have a better understanding as to WHY we can't "just bring Abe" to events because it just isn't that easy. I share this so that other parents who also feel isolated know that this IS NORMAL and that it's okay to feel this way. As usual, tomorrow, we will wake up with a smile on our faces and start the new day like nothing made us feel lonely the day before. Until the next time it catches up with us. I always think that maybe the grief of what could have been never really goes away (at least not for me while my son is still so young) but the good days most definitely outweigh the bad. The people that have come into my life because of Abram have been some of the most fulfilling relationships I have ever had. It's just that sometimes, the isolation of special needs parenting hits me like a ton of bricks. But soon those feelings will be gone, just like that. I often see commentary in the news and online that medicaid is for the "poor". Often times, people seem to forget that Medicaid is also for the sick and the disabled, too. Abram qualifies for Medicaid under many different umbrellas including having an intellectual disability and an acquired (congenital) brain injury called cortical dysplasia. We have private insurance on top of having Medicaid because without it, we would literally be hundreds of thousands of dollars in debt to medical bills and therapies if we didn't. Medicaid covers what our insurance does not - and in today's world and market - insurance providers are denying him standard care including his ability to have access to the therapies that teach him basic life skills like walking, using stairs independently, how to communicate with sign language, iPads, PECS, etc. The fact that people want to take my son's health care away from him hurts my heart in a deep dark place. Families like ours already have to fight tooth and nail to give our children a sense of normalcy and to be able to do all the little things that most folks take for granted. What is being proposed for Medicaid at the Federal Level is looking grim for kids like Abe. They want to change the way Iowa is paid for the Medicaid program, so instead of the Federal Government paying a portion of EACH state's medicaid costs - they want to cap the amounts allotted for each state and pick and choose who gets the help. Why? Because they "believe that states will reign in fraud and abuse if they know the amount they will receive is finite and not based on enrollment." With no laws preventing corporate insurance companies from discriminating against my son for his pre-existing conditions we count on Medicaid to have our backs. Without it, families like ours will be bankrupt. Children will suffer for it and will in the end be an even bigger burden on the state. Iowa has already "privatized" Medicaid and I can tell you first-hand what a nightmare it has been. Children are being refused services and access to life-changing therapies. Sweet little kids who need help are being denied wheelchairs and kids like Abram are being told that they aren't making improvements fast enough for their liking so they don't want to pay for therapies at all anymore or that people who have severe and chronic pain cannot go to the ER for help. Step up, speak out and do something to help. Write to your Senators and tell them how you feel about it. https://www.senate.gov/senators/contact/ Abram is TWO YEARS SEIZURE-FREE on cannabis oil and it's been 7 months since we weaned the last pharmaceutical from his body. Back then, our family hit our rock bottom after traditional pharmaceutical drugs not only failed - but further harmed our son. We had physicians telling us that our son's condition was "over their head" and eventually pointed us in the direction of Colorado and Cannabis. Since then, we have learned an official diagnosis of all his symptoms: UBE2A Deficiency Syndrome, a rare genetic condition that affects only boys and of which there are under 40 reported cases in medical literature worldwide. We also discovered that the fundamental cause of Abram's seizures and intellectual disability are due to a congenital abnormality in his brain called cortical dysplasia. We spent the first three years of his life in and out of emergency rooms, had numerous and lengthy hospital stays due to seizures, pushed for therapies and fought tooth and nail for something (anything!) to go right for Abram. He suffered immensely as an infant - always seemed to be in pain, never slept and was self-harming as soon as he was strong enough to get up on all fours. He was written off as a "colicky baby" and I - "a worried, first-time mom". To the parents struggling out there: trust your instincts and NEVER be afraid to tell a doctor NO or get a second (or fourth!) opinion. After we started Haleigh's Hope: we have had zero hospital stays due to seizures, we have had NO ambulance rides, we have weaned all of his pharmaceutical drugs and Abram was able to start pre-school in an integrated classroom. Every appointment since we started using cannabis has been a major improvement. The cystic lesion in his brain has stabilized, his kidneys are functioning perfectly, he is finally ON the growth chart (and even a little chunky when before he was way too little). He's grown over 4 inches in the last year when our Endocrinologist had actually encouraged us to do growth hormone shots just a year ago (to which we declined - as both his parents are short and his condition includes short stature). But.... he GREW. He's on the charts. He's also saying "MAMA" after having lost it to Klonopin and seizures over two years ago. He has worked SO HARD and I have waited so long to hear his sweet little voice say my name and there is absolutely no question in my mind or my heart that cannabis is the reason for all of his improvements. (Well, cannabis and our dedication to outpatient therapies every single week for four years!) My little boy can run, ride an adaptive bike, jump and play - all thanks to a plant. Cannabis gave us hope when we had none and we will forever be grateful to the people we have met and the journey this crazy ride has taken us on. Having a child with a rare diagnosis and special needs can be isolating and scary but Abram has shown me a world filled with love, determination and kindness. He has led me to an entirely different life and I couldn't be more thankful for it. This little boy was put on this Earth to teach me how to love, forgive and fight hard for what I believe in. Before Cannabis, he had a lifetime of being told what he wouldn't and couldn't do and now he proves everyone wrong! He continuously improves his goals and smashes them to smithereens. Abram is my own personal little hero - proving to me everyday that there is always hope, love and lots of hugs if you know where to look. To Jason Cranford, thank you so much for creating something that is changing so many lives for the better and for giving me my son back! Much love, Friends. We couldn't be luckier or happier. Cannabis IS medicine. What we use for Abram:For those of your curious about what kind of cannabis oil/products we use for Abram, we use an organically grown from Colorado called Haleigh's Hope that is c02 expressed.. We also added in Cannatol RX last summer to try and help Abram with his self-harming issues and restless nights. With Haleigh's Hope, Abram became seizure-free and cognitively way more aware but we still struggled with major behavior issues. Before we added in the Cannatol, Abram would sit in his bed and night and slam his body around for up to two-three hours and slam his face and head into his crib slats. When he got startled or upset he would slam his face into the floor, concrete, an end table - anything that was near. He most recently lost a tooth due to damage he did to it over a year ago but the Cannatol RX has helped immensely with his difficult self-harming days and his sleeping. Since the video below, we have also gotten a Courtney Bed so if/when he does bounce around - he is at least safe and cannot bloody or bruise his head anymore. When we first started our journey - we did not know what we were doing and we used a product that we later found had lead in it. Then we met Jason Cranford and our lives changed for the better. I've learned a lot and his team that work for his non-profit the Flowering Hope Foundation have spent countless hours teaching me about cannabis and how to best advocate both at the state and federal level. Sebastian Cotte is their National Business Director and he has helped me immensely by teaching me how to advocate and how to speak with my Senators and Congressman in Washington DC. The best part? Haleigh's Hope also has a private group where you can meet and chat with other people about what you are going through and who are using the same products. The staff teach you how to dose and what medications could possibly interact and how to approach your doctor with knowledge and confidence. If you are thinking of trying "cannabis oil" - please be sure to purchase a quality product for your loved ones. We get messages often about how certain local drug or grocery stores have "CBD OIL" but I always let people know that not all products are the same. Before using anything - be sure that each bottle has a batch number on it and labs that match and prove that the product is safe and free of harmful contaminants like pesticides, mold and heavy metals like lead. We personally only trust the products that Haleigh's Hope and Cannatol RX make. We have been able to personally meet the people who have helped my son have a better quality of life and see where his medicine is grown. I like the personal level of care that you get with Haleigh's Hope/ Cannatol and how they help people in their darkest days see the light and HOPE that is offered in their oils and sprays, literally. I originally titled this piece "Seizure Free on Cannabis" not thinking that I should share the exact thing we are using as people could blindly go buy bad product and never see the results that we see. I do not want to further perpetuate that all oils are the same or have people believe that they can go to a health food store or a vape shop to get these products. They are NOT SAFE, friends. Please, be careful with what you choose to put into your child's and your loved one's bodies. We decided on an organic c02 expressed product because that is what was best for Abe. Haleigh's Hope and Cannatol RX are specifically what changed our lives and everyone should know what has given us our boy back. Thank you, Jason Cranford for all you do for our kids. It is the end of Rare Chromosome Disorder Awareness Week. This is the 2nd year we have participated in this social media gig and I am beyond thrilled to announce that since we began sharing Abram's story via this website and social media that we have officially been able to connect with FIVE other families who have had boys with UBE2A Deficiency Syndrome like Abram in - addition to the very dear micro-biologist who published the first case study on UBE2A.
UBE2A Deficiency Syndrome wasn't discovered until 2006, so when our geneticists found that this gene was the root cause of all of our son's numerous medical conditions, we were shocked when they told us that Abram's was the first case they have had and that they would officially be learning from Abram. I immediately joined Unique - Rare Chromo's website - which is a support network for parents who have the worlds most rare diagnoses. I filled out all the information about Abram's diagnosis and suddenly, I was connected with one other family in the UK that also had a son with UBE2A Deficiency Syndrome! I also made sure that this website was coded appropriately so that anyone searching for UBE2A Gene Variations could find us and before I knew it, the person who wrote the first case study found us and within another year - another family had found us! Learning that your child has something so rare, comes with a great deal of shock, anger and fear. For me, the shock wore off quickly as I had fought for over two years to get a proper diagnosis! I felt angry because not only does your child have a rare diagnosis but due to it's rarity the community support simply is not there. That is not to say that we don't have an excellent support system and a massive group of people who truly love and care for our son - but that unlike many other families with special needs children - we don't have that community of kids with similar diagnoses to try to relate to - and that in and of itself is very isolating. Rare Chromosome Awareness week is so important for us and for Abram because it gives us an opportunity to raise awareness for UBE2A Deficiency Syndrome. Many negative things can come out of social media but it most definitely can help families in situations when families like mine. Without the internet, we would not be able to connect with the families around the globe who have the same diagnosis. So far, less than 40 cases have been reported and we (as a group of parents) have collectively only been able to find and connect with six other families (not counting ourselves) and we are hundreds and thousands of miles away from one another - either on the other side of the country or the other side of the world from one another. It is so important to make connections with ALL people who make an impression in your life but there's something even more special about connecting with people whose children have what your child has and who can give you a glimpse into the future and show you exactly what hope looks like and to also grieve and feel broken hearted for the mamas who fought their children's whole lives being alone and not having the connections I am so very lucky to have with them, now. To that mama, thank you for being brave and sharing your story and your son's sweet smile with us. You have added three more families to the list of people forever connected to our lives and I couldn't be more thankful for what you have done or for your sweet boy. If you or your child has a rare condition and you have not yet signed up for rarechromo's Unique Database, I urge you to do so. Before we had our "official" diagnosis, I was able to put in all my son's symptoms an other diagnoses and could still connect with families with similar medical conditions regardless of having an official name or answer to the bigger picture. It was nice being connected to other parents who had children with the same situation and symptoms, so you are not alone. UBE2A has affected Abram in many ways and although it was a difficult journey to diagnosis and his medical history thus far has been a rocky road - I feel that we are finally coming into better days. He is learning to communicate (via an ipad and PECS), he is able to say "mama" again now (since March! I didn't want to say anything because I didn't want to jinx myself!), he is getting fast at running and has even conquered a rather large playground slide, just tonight. Rare Diagnoses can be isolating, overwhelming and scary but the wonderful people and the love that comes your way when you join the rare diagnosis/special needs world is incredible. You end up meeting the rarest kids in the world, the coolest parents and people you will ever meet and children who are the sweetest, most loving, forgiving and kind-hearted spirits in the world. Much love, friends. Spread the word! Every summer my husband's employer has an employee picnic at our local theme park, Adventureland. Abram doesn't enjoy the rides (aside from the tea cups) as the hydraulics on the machines scare him and sends him into major sensory overload and he immediately starts self-harming. Luckily, the park has a water park and being a summer baby - this kid loves the heat, being outside and doing water play. Most importantly, my husband's employer rented cabanas for his employees to enjoy this year so right next to the "lazy river" we could set up shop for the day under a nice shaded cabana that had a refrigerator, ceiling fan and access to the cold water, right there. Not to mention, a nice place to stop for breaks, eat lunch, and lather back up with sun screen. Abram spent FIVE HOURS at the park this year which is his biggest record at sticking to and tolerating any type of activity. We did several floats around the lazy river, visited the kiddie pool with it's very own swim up "pub" which Abram loves because he has an obsession with garage doors and the openings of the concessions are mini garage doors. So, he would order us to take him near the concession so he could sit on the seats at the bar, demand the lady behind the counter put the doors down (to which we explained she could NOT) but she was sweet and played a pretty lengthy game of "peek-a-boo" with Abram. Next to that is sort of a mini-American Gladiator water course where kids were trying to run across floating islands to get to the other side and Abram would squeal and squeal at the kids falling and splashing. He really wanted to try it himself but he is still much to small to attempt that type of thing! He just really has a great time watching other kids enjoy themselves as well. Overall, we had a great day. Abram had a blast and NONE of us got sunburned... which was a plus as it was over 95 degrees. Super thankful for the cabana we got to use and even more thankful that Abram got to enjoy a day at the water park - doing an activity that we normally could not afford to do! It was SO MUCH FUN! |
About MeHello! My name is Erin. I am Abram's mom, a tireless advocate for UBE2A Deficiency Syndrome and a fierce proponent for medical cannabis. MOST POPULAR BlOG ENTRYJOIN US
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