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.
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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