Thanks for taking the time to visit zanes JustGiving page.

Zane underwent genetic testing in 2011 under professor Helen Firth at Addenbrookes, in early 2012 we were left reeling when he was diagnosed with CCM3, the most serious & aggressive genetic mutation that causes cavernomas, along with other issues. We have only recently told a few family members and friends about this.

Below is a letter from Connie Lee which explains how serious the illness is and how crutial it is for us to travel to the Chicago clinic and have the specialist mri and gain the expert advise and help of Dr Isam Awad.

Connie is the founder of Angioma Alliance and has a daughter Julia whose cavernous angiomas are caused by the CCM3 mutation.

 

520 W.  21

st Street,

Suite G2-411 Norfolk,

VA 23517-1950

www.Angioma.org

info@Angioma.org

11 January, 2013

I am writing this letter to assist Lee and Kim Smith in explaining CCM3 and the importance of their son Zane’s participation in the CCM3 Clinic at the University of Chicago in the United States. After raising £15,000 for Cavernoma Alliance UK, the family now find themselves in need of help.

Having a mutation on the CCM3 gene is an ultra-rare condition – there are fewer than 100 diagnosed patients in the world at this time. A mutation on the CCM3 gene causes the formation of abnormal blood vessels in the brain and spinal cord called cavernomas. Cavernomas are mulberry-shaped, leaky, tumor-like lesions that can hemorrhage and grow, causing potentially severe neurological deficits, seizure, and even death. 50% of people with a mutation on the CCM3 gene begin having brain hemorrhages as children, and Zane falls into this category. Very little is known about CCM3 – the gene was discovered as recently as 2005 and the fact that this is an ultra-rare disorder was not clear until 2011. Because of this, with the exception of just a few doctors, the medical community is not familiar with management of the illness. Zane is just 4 years old but has already had brain hemorrhage. He has 17 brain lesions, and this number is expected to increase over time.

CCM3 Action is a committee within the US organization Angioma Alliance. CCM3 Action is focused specifically on assisting individuals with this genetic mutation. We have established a clinic for patients with the CCM3 mutation at the University of Chicago. At clinic, patients receive a state-of-the-art MRI that includes measurement of the actual leakiness, or permeability, of their brain blood vessels. They also have a consultation with Dr. Issam Awad, the world’s foremost expert on CCM3 disease. Dr. Awad generates a written report of the visit which the patient can distribute to his or her home consultants. Dr. Awad also makes himself available to confer with the patient’s consultants if there are questions or changes in the patient’s condition. This allows a patient’s family to feel as though they have a world expert in their back pocket at all times. It will also allow them to participate in clinical medication trials when these become available.

We ask that patients raise funds for the visit so that we can make the best use of our limited resources. The cost of travel from the UK, imaging, and clinic visit for a child needing sedation for MRI is approximately $7500 USD (£5000).

Your support of young Zane and his family is deeply appreciated. Unfortunately, at this time, there is no CCM3 expert in the UK so their travel to our US clinic is the only way in which Zane will receive truly informed care and could make an enormous difference in how his illness is managed now and in the future. Thank you in advance.

Sincerely,

Cornelia Lee, Psy.D.

Founder, Angioma Alliance

Program Coordinator, CCM3 Action