Get Abe to the Rare Patient Summit

Hello. My name is Erin and my son, Abram has a very rare gene mutation called UBE2A Deficiency Syndrome. There are only a handful of people in the world with this condition and due to it's rarity, it is quite easy to feel alone in the world when it comes to advocating for him.  Our Geneticists informed us that our son's is the first case they have ever seen and they are now "learning from Abram" as to how to proceed with this Syndrome.

UBE2A Deficiency Syndrome has caused our son to have epilepsy, cortical dysplasia (meaning there are bundles of nerves within his brain in places they shouldn't be) along with other brain anomalies, hypotonia, a large fused kidney, an intellectual disability, absent speech, autistic-like behaviors and a host of other medical issues.

Due to my son's medical issues, I have been unable to work and we live on one income - which leaves us no money to save for important events such as the one that we are raising this money for.

I cam hoping to raise enough money for my family to attend the "Global Genes Rare Patient Advocacy Summit" in Irvine, CA in September.   My goal is to be able to travel with myself, Abram and my mother so that Abram can be present to meet other patients but so that I am also able to attend conferences to learn how to better advocate for him while my mom helps watch Abram during the times I am busy.

The Global Genes Rare Patient Advocacy Summit is where "rare advocates from across the globe come together to Connect, Collaborate, and Activate. This educational conference creates a space for members of the rare disease community to share best practices, create important introductions, and help catalyze powerfulcollaborations. Attendees share their experience, knowledge, and expertise as conference presenters and or participants."

http://globalgenes.cvent.com/events/2017-rare-patient-advocacy-summit/event-summary-b667f7db423b463f80ab2ef70b16b4a7.aspx?lang=en&sms=2&refid=SOCIAL


Having a child with something so rare is very isolating and programs such as this will help extend our support system for Abram as he grows and by sharing our story perhaps we can help others as we go along as well.

The money rasied here will be used specifically on Airfare, Hotel and the actual cost of the conference. Currently, airfare is a bare-bones minimum of $1,300 for (3) of us to travel but as the date gets closer, it is more than certain to go up. The hotel that the conference is at has block rates for guests at $159/night + 10% tax leaving the Hotel Cost at $700 plus the conference is $375 for (3) of us if we register soon and goes up to $450 after 4/30/17.

Being able to attend this conference would mean so much to my family. Not only would Abram get to meet other "rare" patients, we as caregivers would be coming home with more information on how to best advocate for Abram in the years to come.

I would be so thankful to have an opportunity like this. Not only would it be a great way to learn more ways of helping advocate for Abram but Abe's "UBE2A Brother" lives just 5 hours away from the conference and I'd love for my son to be able to meet him as well as I would love to be able to meet another family who has a child with this condition.

Right now there are literally only (3) little kids in the world (including Abram) that I am aware of because it is SO RARE and we would love to be able to not only go to an advocacy summit but also have the chance to meet Abe's "brother".

Thank you for reading, sharing and donating if you have the dollars to spare. 

You can also read more about Abram at:
www.ourabrammayhem.weebly.com