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Saturday, December 10, 2011 |
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Well we are back!! Lots of exciting things happening here! We have learned that clinical trials for an Angelman Syndrome treatment, will begin the first of next year. We recently had an opportunity to attend the FAST Gala in Chicago and had a blast hanging out with all the other very special parents.
On Sunday we had an opportunity to do an informal Q and A with the researcher and clinical trial director, over this project. We learned a lot of useful information and cannot wait to get started. This treatment has reversed cognitive and motor defects in a mouse model. It has not been tried on humans yet, but they are very hopeful that it will have the same effect in humans. My understanding is that they will be using a daily maintenance drug to replace a protein that is missing in individuals who have AS. No one knows exactly what effect this medication will have, but it is believed to be safe, as it is already being used to treat other disorders.
The trials will be held in Tampa Fl. 24 individuals who have AS will be chosen to participate. Those who will not qualify are the individuals who have intractable epilepsy, are already participating in another clinical trial, and are not between the ages of 4 and 12yrs.
If trials are successful, the medication should be made available to the general public within approximately 5mths. If the trial is not successful, there are compounds that will be explored and a new trial will start sometime after. Our research group, through donations, already has enough money to being a second trial. If you are interested in contributing, please go to www.cureangelman.org and show your support; its a great cause! :)
Anyway, Mr. Brady is doing great! He is living life to its fullest and we couldn't be happier. Of course he continues to keep us on our toes, but we wouldn't have it any other way. Just this morning he woke up before me, and I followed his trail of torn up paper and food, to find him sitting in the utility room with a box of laundry detergent poured in his lap. I guess after he emptied the cabinets and filled himself up on junk food, he decided to do a little laundry :)
I don't complain about the chaos that he brings to my life. I am so happy that he is here with us, and that he is able to do these things. If he is getting into something, that means he is doing well and that he is not non convulsive status.
He goes back to his epileptologist on the 20th for an EEG and an appointment. We have begun to get nervous every time we get an EEG because we never know if were going to be coming home afterward; however, I'm trying to remain positive this time, as he seems to be doing great. We struggled with a hunger strike recently, but once we decreased one of his meds, he began to eat again, so that is another hurdle that we seem to have overcome as of now.
Well its time to sign off for now. Thank you all for your kind words, support, and for following our little bundle of joy. GN all! |
posted by angelwings
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2:32 AM
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| About Brady |
Read Brady's Story Here
I am a happy, healthy 9yr old little boy. I have Angelman Syndrome which makes me even more special. I bring joy to all those who meet me. Just because I am unable to speak, does not mean that I dont have lots to say; I make that very clear to mommy and daddy everyday!
See my complete profile
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Big Happy Tent |
Big Happy Tent is a homegrown non-profit organization started by Marcel Cairo and his family. Our mission is to take Angelman kids and their families camping, surround them with nature, water, music and fun, and let them soak in the wonder and joys of life.
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Interactive Seizure Diary |
This
downloadable Interactive Seizure Diary helps you track your seizure activity and medication routine. You can also record doctor appointments and notes about how you are feeling. Before a doctor appointment, print the information and share it with your physician.
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Angelman Syndrome Foundation |
The
Angelman Syndrome Foundation is a national organization of families,
caregivers and professionals who care about those with Angelman
Syndrome. It is also a member organization of the International
Angelman Syndrome Organization (IASO).
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Angelman
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The AS Forum was created in April
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people with Angelman Syndrome (AS) to exchange information with each
other.
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Cure Angelman Syndrome |
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The Foundation for Angelman Syndrome Therapeutics (or FAST) is an organization of families and professionals dedicated to finding a cure for Angelman Syndrome and related disorders through the funding of an aggressive research agenda, education, and advocacy.
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