My youngest son, Joshua was born with a rare genetic condition called 8p23.1 deletion.
8p23.1 deletion/duplication/inversion is very rare that our 8p group only has more than 65 cases around the world. Joshua was born with a microdeletion of genetic material on his 8th Chromosome. It’s a unique genetic arrangement which causes extreme cuteness, irresistable smile and unstoppable energy. This also means he is living with multiple disabilities both cognitive and physical. Currently, he has a learning disability on the more severe end of the spectrum. He also has Epilepsy with seizures due to his pachygyria, an abnormality in his brain growth. Currently he is under heavy duty drugs to prevent life threatening episodes.
Apart from our close and local family and friends we get unending support from our 8p Family. They are the families of the other 100 people worldwide with the same diagnosis. We share everything and anything 8p, thus making all of us experts in such a rare condition.
One of those parents, the formidable Bina Shah created the Project 8p foundation https://www.project8p.org/ and has arranged a conference in New York, USA on June 2019. The Foundation has recruited geneticists to launch a study into Joshua's and Hannah’s (another 8p cutie) genetic condition to help those affected and get some true information about how it affects others and how the subsequent disabilities and health complications associated with this genetic condition can be best managed. Please visit this link, https://www.project8p.org/research-study
At this conference, some of the world leaders in genetics, cardiology, epilepsy, pediatric neurology and general medicine as well as the centerpieces of the entire reason it exists will convene as resource speakers of the event. As many of the other 8p families are in the dark as to where will this illness will lead our kids, we are more than hopeful for the support that we can get from this conference as well as the linkages we will gain in the meet too. In short, this is a trip that we cannot financially afford, but for Joshua and Hannah to meet others just like them and to hear from medical professionals who can help them live their best lives, it’s not something we feel we can afford to miss either.
Other families also plan on travelling from UK (Hannah), Australia, New Zealand, the Phillipines (Joshua), Singapore (Maya), Mainland Europe, South America and also from across the USA. It will be truly magical to have so many ultra rare kids in the same placeķ with the same diagnosis (which is really the rarest).
I know it’s an ultimate goal to reach but we are hoping that if those that love us, Joshua and Hannah and other 8p kids alike, can even spare a few cents then it will help us actually meet and hug some of the people we have built huge friendships (since decades ago) and support networks online with, it also allows us to help shape the future of how families with any 8p related genetic disorder (inv dup del) will feel when they get such a scary and unknown diagnosis. We all support one another and we are one in this journey.
Our 8p Kiddos will change the future of science and genetics I must emphasize that although it seems a popular tourist destination it will be far from a holiday. The conference will be held at Columbia University and we plan on staying quite close by. I Lea (mom) and Shawnn (brother) will be going with Joshua. We both need to go as in the event of a seizure and aggression and anxiety, we need back up.
The Conference is on Fri 28th June-Sun 30th June – we will fly out Thursday 27th and return Monday 1st July in time for Shawnns 18th birthday. We plan on keeping costs as low as possible and our fundraising amount covers airfare, visa, accommodation (bed and breakfast) and travel insurance as well as the conference entry fee and lastly his.medications.We really, really hope and pray that you can all support us to allow Joshua to meet his 8p buddies and realise he is not alone in the world and that there are others just like him.
Yes! we promise to post loads of pictures of all the cuties together and keep you all up to date with the progress of the study.
Adapted from Rebecca Penders gofundme post for her same 8p cutie, Hannah. https://m.facebook.com/story.php?story_fbid=10162475098580347&id=539175346