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."
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:
I've never been further West than Vegas and/or Colorado so I'm pretty excited that I'll finally be able to see California while doing something so amazingly life-changing for my family.
I can't thank you guys enough!!
Abe's been doing well in therapies (although he battled a nasty virus for a couple of weeks - and now mommy has it!). He gets his first talking board this week (where he can make two choices on a board that "talks" for him) using the Picture Exchange System and I am just so excited.
We had a great Easter, cooked a good meal and Abe got to have his first Egg Hunt where he actually saw the egg, opened it and wanted to gobble up the candy. But once he realized what the game was - he wanted to eat EACH piece of candy and had no desire to collect the eggs without eating the prize. Hah! So big sissy helped him and we set the candy aside for later. :)
I just wanted to post an update thanking everyone for the donations! Abe and I will be busy doing artwork for everyone and sending out thank you(s) very soon!
We are almost half-way to our goal which is amazing and we are so honored.
I wanted to share a little photo of Abram and his UBE2A "brother" Jackson and explain why this is so important for BOTH of our families!
When you have a child with a rare condition, it is difficult to navigate alone. When I stumbled upon Jackson's family and saw their little boy's face, I felt like I'd found MY family.
We may not share the exact same journey but our boys share the same condition and have experienced many of the the same struggles and hardships.
Meeting this family at something as important as the Global Genes Rare Advocacy Summit would be life-changing in so many ways!
As parents, we will be able to learn more on how to best advocate for our children, meet other families who are also dealing with rare conditions and most importantly, we will be able to meet each other in REAL LIFE.
To have our two boys meet, would mean the world to us. Thank you so much for the shares, the kind words and the donations. It is much appreciated.
It is official that Abram's UBE2A "brother" and his family will also be attending the event as well. It would mean the world to us to be able to meet the only other family in the country who also has a child living with this rare condition.
We appreciate the donations, the kind words, the support and the "shares" of his campaign on social media!