Story

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

 

Updates 3

Yesterday morning (16-01-2013) at 9am we went live with an appeal to help zane to see Dr Awad in Chicago, 9 HOURS later we had hit the target, There simply are not words to express our thanks, Any monies that have been raised on top will go to CAUK to carry on their amazing work

17/01/13 08:44

Here is Dr Awad, describing his work. He is THE man! http://www.uchospitals.edu/assets/uch_030655.html

15/01/13 23:00

Here Is a link to Dr Awad in Chicago. http://www.uchospitals.edu/physicians/issam-awad.html

15/01/13 22:57

Raising money for

Cavernoma Alliance UK

Cavernoma Alliance UK

Charity Registration No. 1114145

Cavernoma Alliance UK aims to provide advice and support for those with cavernous angioma through its organisational skills and by providing a service which makes the general public aware of cavernous angioma.

Donations 241

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Dear Brenda told me about Zane and I'm a dear friend of your Canadian family who love you.

Donation by Brittanie Sweetnam on 09/03/13

$20.00

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At the request of my oldest and longest friend Paula . Chicago is cold... bring warm layers !

Donation by Diane Katz on 31/01/13

$156.99

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You're a brave little lad. I hope the treatment goes well.

Donation by Kevin Bowmer on 27/01/13

£10.00

+ £2.50 Gift Aid

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Donation by Michael Smith on 22/01/13

Donation by Robert Rice on 21/01/13

£100.00

+ £25.00 Gift Aid

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Best wishes guys, sending loads of love to you all, love Michelle and Kayla xxxxxx

Donation by Michelle Sweeney on 20/01/13

£10.00

+ £2.50 Gift Aid

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Donation by sean staden on 20/01/13

£10.00

+ £2.50 Gift Aid

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Sincerely Hope that all goes well on your USA trip. Best Wishes for the future.

Donation by Jack Wilderspin on 19/01/13

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Wishing Zane and your family all the best Lee!

Donation by Daniel Ackerley on 18/01/13

£10.00

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. Wishing Zane all the best x

Donation by Linda Fallen on 18/01/13

£10.00

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Wishing little Zane all the best xx

Donation by Nikki Willard on 18/01/13

£10.00

+ £2.50 Gift Aid

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Wishing Zane lots of love and luck. Love the Mythen family x

Donation by Liam Mythen on 18/01/13

£10.00

+ £2.50 Gift Aid

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Wishing little Zane well xx

Donation by Leah Gatward on 18/01/13

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Best Wishes guys!!

Donation by Kara Brabant on 18/01/13

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Donation by Anonymous on 18/01/13

£10.00

+ £2.50 Gift Aid

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We hope all goes well and wish your family well..

Donation by Neil and Debra Parker on 18/01/13

£20.00

+ £5.00 Gift Aid

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Donation by Anonymous on 18/01/13

£20.00

+ £5.00 Gift Aid

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Donation by Tom Johnson on 17/01/13

£10.00

+ £2.50 Gift Aid

Wish the best of the world and hope you get better. (Brazil)

Donation by Luiz Pacheco on 17/01/13

£10.00

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Our best wishes

Donation by Shirley wells on 17/01/13

£10.00

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BEST OF LUCK ZANE. HIS HOLINESS THE 14 DALI LAMA SAYS THAT THE TRUE MEANING OF LIFE IS TO HELP OTHERS ,AND TO CONTRIBUTE TO OTHER PEOPLES HAPPINESS

Donation by paul heathcote on 17/01/13

£10.00

Donation by Toni Furness-Dear on 17/01/13

£10.00

+ £2.50 Gift Aid

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Donation by Damien Gentile on 17/01/13

£20.00

+ £5.00 Gift Aid

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My son, Dion Lee, posted the link. Best of luck Lee. Peter & Tracey Lee

Donation by Peter Lee on 17/01/13

£10.00

+ £2.50 Gift Aid

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Gorgeous boy, wishing you all the luck in the future xxxx

Donation by Tanya Forster on 17/01/13

£20.00

Donation summary

  • * Online donations£7,758.32
  • Offline donations£0.00
  • Text donations£0.00
  • Total raised£7,758.32
  • Gift Aid£1,538.38

* Charities pay a small fee for our service. Find out how much it is and what we do for it.