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.
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.
Hi! I'm Erin. I am a single mom, tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.