Hannah's Hope

Hannah's Hope from Matt Sames on Vimeo.


I thought I'd use this post to take a break from our polliwogs to talk a little about someone else's polliwog, and the reason I've been so busy lately. The video above is about Hannah and her parents' fight to save her. Hannah has a very rare genetic disease called Giant Axonal Neuropathy (GAN). She is a couple months younger than Aubrey. Without any type of treatment, Hannah will likely die in 15-20 years, and right now there is no treatment. She's walking fairly well now, but she'll probably need a walking aid in the next few years and she'll be in a wheel chair by the time she's 15. By age 20 she'll probably require a tracheotomy and artificial life support, and although her mind will still function well she will have mostly lost the ability to speak. In her early to mid 20s she would probably die of a respiratory infection because her diaphram in too weak to pump her lungs properly. This is the prognosis for Hannah and others with GAN unless a treatment is found.

Hannah is the way she is because one of the 30,000 genes in her DNA is messed up. It is messed up in all the cells of her body and in the cord blood stem cells her parents saved. This particular gene is important for the communication network between her brain the rest of her body. Without this gene, this communication network will slowly break down. This means that her brain has trouble telling her muscles what to do (including her heart and diaphram). It also means that if she feels something (touch, heat, taste, etc.) her brain has trouble getting the message. So if she steps on a nail or touches a hot stove she will get burned without knowing it. All of this gets worse as she gets older.

Hannah's parents got the diagnosis last April (which the doctor basically told them was a death sentence), and instead of feeling sorry for their horrible luck they decided to start a foundation to research a cure for GAN. This is where I came in. I work at the UNC Gene Therapy Center, where my research focuses on correcting genetic defects in the brain and spine. I use a human virus called AAV (that is completely harmless) to deliver genes to cells in the body, thus replacing the bad gene in the DNA with the correct gene. Since we are permanently correcting the person's DNA, if everything works you would only need one dose and then the person would be "healed" for life.

With money from Hannah's Hope Fund, I'm putting together a small research team and working with other labs around the world to develop a treatment for mice with GAN. Today is the day my funding begins, an exciting time! If we are successful in mice, Hannah's Hope is raising money to pay for an experimental human clinical trial to give the therapy to Hannah and others with GAN. The clock is ticking for them, and this will take millions of dollars. If we are successful with GAN, the same strategy could be used for Lou Gehrig's Disease (ALS) and Spinal Muscular Atrophy (which affect 1 in 6000 people and kills more infants than any other genetic cause). You might say I'm trying to cure the incurable, quite a daunting task! But as Hannah's mom Lori ends all of her emails, "There are no obstacles, only opportunities."

If you want to know more, I've pasted the Hannah's Hope website below. Her parents are phenomenal and inspiring... I've gotten to know Lori pretty well over the last 6 weeks. If you are in the giving mood, there aren't many charities that are more worthwhile.

http://hannahshopefund.org