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