Hello! My name is Erin and my little boy Abram has UBE2A Deficiency Syndrome. He was diagnosed in 2015 after three years of endless testing and I'm writing to you - the new parent who most likely stumbled upon our blog because your son was recently diagnosed with UBE2A.
First and foremost, I want you know that there is a SUPPORT GROUPfor parents of kiddos with UBE2A Deficiency Syndrome. It is a private group with parents, their immediate family as well as two researchers who know more about the genetics side of things and whom are happy to answer questions for you. (These researchers have written two of the published case studies on UBE2A and are the most knowledgable out of anyone that could be on your team).
In addition, we have over a dozen families from around the globe, all of whom are living shared experiences and who can help guide you on this journey. You are NOT ALONE.
Getting a rare diagnosis can be daunting but it is so much more than that. Do not be afraid. These little boys are full of joy and love. Doctors most likely will fill your head with the things they cannot or will not do and let me be the first one to tell you right here and now that your son WILL and he CAN and he'll do it on his own time with joy in his heart and a smile on his face. These kids are fighters and people fall in love with their spirit everywhere that they go. They are nothing but love and the biggest smiles you'll ever see.
Don't fret too much. You've got this.
When families with boys who have UBE2A were asked to describe their boys in just a few words, the descriptors below were used. We hope that it brings you peace and hope in a time that may be scary and overwhelming for you.
JOYFUL • FUNNY • FULL OF LOVE • EMPATHETIC • SOCIAL • ENERGETIC UNIQUE • SMILING • SPECIAL • WONDERFUL • JOVIAL • CUDDLY • CALM CURIOUS • MISCHIEVIOUS • PERSISTENT • STRONG WILLED • DETERMINED ACCEPTING • HANDSOME • OVER ACHIEVING • HAPPY • CONQUEROR • FLIRT NEGOTIATOR • CURIOUS • RAMBUNCTIOUS • CHARMING • SMART • WARRIOR
Q & A on UBE2A
What is UBE2A Deficiency Syndrome? UBE2A Deficiency Syndrome (on Xq24) is an x-linked congenital disorder that causes several health conditions of varying degrees including intellectual disability, speech impairment, dysmorphic facial features, seizures, skin/genital anomalies, immunodeficiency, brain abnormalities and mid-line defects of the heart and kidneys in male patients.
Why are only males affected? What does x-linked mean? The UBEA gene is found on the X chromosome making the syndrome an x-linked mode of inheritance. This means that the gene causing the syndrome is located on the X chromosome. Females have two X chromosomes while males have one X and on Y chromosome, which is why carrier females who have only one copy of the mutation do not express the phenotype.
Is UBE2A inherited? Do I need genetic counseling? UBE2A is typically a gene inherited from the mother to her children however in some cases the gene mutates on its own in utero and is considered a de novo mutation. If a mother is a carrier, she has a 50% chance of passing it on to her children and her sons would have a 50% chance of having the syndrome while her daughters may also be carriers. However, UBE2A can also happen on its own which is considered a "denovo" deletion/mutation. In this case, it is a less than 1% chance of happening again. Many families choose to do genetic counseling because they want to have more children or they want to confirm if their mothers/daughters/sisters are carriers as well.
What is the function of the UBE2A gene? Scientists know very little about the function of the protein encoded by the UBE2A gene but are aware that the protein (also called UBE2A) does not function properly in the cells of the mutation carriers. However, so far all of the carriers of different mutations as well as the carriers with deletions encompassing this gene have a similar phenotype. So, it is believed that the loss of the protein function is what leads to the symptoms of UBE2A Deficiency Syndrome.
What is a mutation/deletion? Boys with UBE2A can carry point mutations, small deletions or larger Xq24 deletions that encompass the UBE2A gene along with other genes. According to the most recent case study, larger deletions encompassing the UBE2A and adjacent genes appear to result in more severe forms of of the clinical syndrome with a higher prevalence of white matter changes, heart defects and urogenital malformations.
What treatments are there for UBE2A? Although there is no "treatment" or "cure" for UBE2A Deficiency Syndrome, it is my hope that as a small group of concerned parents we can help scientists to understand the symptoms and cellular pathways that may help them to identify a medicine to help improve their quality of life. Although it isn't true for UBE2A today, maybe one day they will understand the cellular mechanisms affected by this syndrome.
What is the latest and ongoing research in this field? **coming soon***