Rare Disease Day

A disease is defined as RARE in the United States if there are fewer than 200,000 people living with it in our country.  Our 2 year old, Jacob, has Blue Rubber Bleb Nevus Syndrome, a vascular condition that causes overgrowths of blood vessels throughout his body.  It is one of the rarest of the rare conditions in that there are less than 300 cases EVER reported in literature since this condition was identified, and fewer than 150 people living with BRBNS in the world.  We are hopeful that the Global Genes Project and the doctors at Boston Children's Hospital will one day find the cure to his condition, and until then, we will tell our story and raise awareness for his and other rare conditions.

Today is worldwide Rare Disease Day! It is not a day that garners much attention, certainly it never did by me until this year.  The essence of what makes Rare Disease Day is that by being member, you automatically experience isolation in your battle.  In our case, Jacob has one of the rarest of the rare diseases.  After Jacob's diagnosis, we felt very alone in that we knew so little, our doctors had so little information, and most (including us) had previously not even heard of his condition.  In our search for answers and care for our son, we have come across only a few on similar paths, but each has brought us hope. So has the knowledge our family and friends have sought while walking beside us.  We no longer feel alone on our journey and are fortunate to have a wonderful support system of people who love us, as well as an amazing medical team both here at home, and in Boston that understand, and are learning more about Jacob's condition.  I think this day is so important to combat the isolation so many feel in fighting their rare disease, as well as to raise awareness for so many conditions that are otherwise unknown to the most people.  As I said before, learning more about his disease, and finding others who understand it as well gives us
which is what Rare Disease Day is all about.  Hope for a cure. Or at least hope for a little understanding.  By reading his story, you have understanding of the path he walks. As he grows, I hope he continues to find understanding and compassion in those he meets.  We thank everyone who  has followed Jacob's journey, as by doing so, you are showing your support for Jake and people like him living with rare conditions. If you'd further like to support Jacob and others with rare conditions, you can change your profile picture today on facebook to this:

Also, even though we do most days, wear jeans today with the awareness of those struggling with rare diseases and the hope that the answers may lie in their genes.  I love my "rare" boy, and thank all of you for loving him too.  Keep praying for today's miracle!