From Cara Hello Friends, I have some very important personal news to share, and would like the WORLD to know about this, with your help. My daughter Eliza (almost 4 years old) was recently diagnosed with a rare genetic disease called Sanfilippo Syndrome, Type A. Like most people, I had never heard of it. Children with this disorder (also referenced as MPS III A) are missing an enzyme which is essential in breaking down certain sugar molecules. The result has grave health consequences with life expectancy in the early teens, sometimes less. It is a degenerative condition wherein the body and mind begin failing at varying stages and speed. Gradually a child will lose the capacity for speech, walking, swallowing, and ultimately the loss of vital organ functions. Often speech is the first thing to go, and many times around the age of 6. There is no cure, nor is there any treatment to slow the condition. It is a parent’s worst nightmare and an unfair sentence for any innocent child. We are crushed and have been dealing as best we can with the shock and emotion of all of this. In the past weeks, we’ve spent a great deal of time in researching various studies and clinical trials in the United States and overseas. HERE IS WHERE WE SEE A LIGHT OF HOPE There are research teams who are making significant breakthroughs in Sanfilippo Syndrome research, including a gene therapy cure that has been successful in animal testing. There have since been clinical trials on children that have produced positive results after one year. They are so close. More testing and trials are necessary, but the rarity of this syndrome (1 in 70,000) makes it a challenge for researchers to get adequate funding. Friends and family have asked if there is anything they can do, and THERE IS…. The clock is ticking for Eliza. Every minute her cells are being damaged. Our only hope is that we can raise enough awareness of Sanfilippo Syndrome and aid researchers, in their quest for a cure. Of utmost importance, we ask: 1) Please “like” and share this post with anyone/everyone you know on Facebook, Twitter, or email. 2) Please talk to people you know, or anyone for that matter, about our story and about Sanfillipo Syndrome specifically. If you can: Donations are directed towards essential research for a new clinical trial in Ohio being done on Eliza’s specific type. Pending funding, this trial is estimated in the next year or two, which is key. After talking with many experts, it is clear that increased funding will speed up the process. The Donation Link: teamsanfilippo.org/donate **Important related to Donations**: On the Review and Continue page on Paypal, there is an ‘In Honor of’ Free Form box. Please type in: ELIZA O’NEILL TYPE A I will have more information coming out about fundraising events as well. If you have any connections/ideas that you think may help, please let me know. Two days after we received the diagnosis, we took an unplanned trip to the beach. It is one of her favorite places. Eliza loves to run on the beach and she and I were holding hands running. She’s fast and hard to keep up with . She did not want to stop and I didn’t want to stop her….. I wished we could have just kept going forever. Eliza is a happy and playful girl, and has the most fun rolling around on the floor wrestling with her big brother. Each night at bedtime now, we hold the back of her hand to our lips and say “we love you forever,” because we know that someday that may be the only way to communicate with her, should there be no cure. Hold your loved ones even closer, cherish every moment….it means everything and more to us now. Keep us in your thoughts, and thank you all, from our hearts… Glenn, Cara, Beckham & Eliza Photo: Hello Friends, I have some very important personal news to share, and would like the WORLD to know about this, with your help. My daughter Eliza (almost 4 years old) was recently diagnosed with a rare genetic disease called Sanfilippo Syndrome, Type A. Like most people, I had never heard of it. Children with this disorder (also referenced as MPS III A) are missing an enzyme which is essential in breaking down certain sugar molecules. The result has grave health consequences with life expectancy in the early teens, sometimes less. It is a degenerative condition wherein the body and mind begin failing at varying stages and speed. Gradually a child will lose the capacity for speech, walking, swallowing, and ultimately the loss of vital organ functions. Often speech is the first thing to go, and many times around the age of 6. There is no cure, nor is there any treatment to slow the condition. It is a parent’s worst nightmare and an unfair sentence for any innocent child. We are crushed and have been dealing as best we can with the shock and emotion of all of this. In the past weeks, we’ve spent a great deal of time in researching various studies and clinical trials in the United States and overseas. HERE IS WHERE WE SEE A LIGHT OF HOPE There are research teams who are making significant breakthroughs in Sanfilippo Syndrome research, including a gene therapy cure that has been successful in animal testing. There have since been clinical trials on children that have produced positive results after one year. They are so close. More testing and trials are necessary, but the rarity of this syndrome (1 in 70,000) makes it a challenge for researchers to get adequate funding. Friends and family have asked if there is anything they can do, and THERE IS…. The clock is ticking for Eliza. Every minute her cells are being damaged. Our only hope is that we can raise enough awareness of Sanfilippo Syndrome and aid researchers, in their quest for a cure. Of utmost importance, we ask: 1) Please “like” and share this post with anyone/everyone you know on Facebook, Twitter, or email. 2) Please talk to people you know, or anyone for that matter, about our story and about Sanfillipo Syndrome specifically. If you can: Donations are directed towards essential research for a new clinical trial in Ohio being done on Eliza’s specific type. Pending funding, this trial is estimated in the next year or two, which is key. After talking with many experts, it is clear that increased funding will speed up the process. The Donation Link: teamsanfilippo.org/donate **Important related to Donations**: On the Review and Continue page on Paypal, there is an ‘In Honor of’ Free Form box. Please type in: ELIZA O’NEILL TYPE A I will have more information coming out about fundraising events as well. If you have any connections/ideas that you think may help, please let me know. Two days after we received the diagnosis, we took an unplanned trip to the beach. It is one of her favorite places. Eliza loves to run on the beach and she and I were holding hands running. She’s fast and hard to keep up with . She did not want to stop and I didn’t want to stop her….. I wished we could have just kept going forever. Eliza is a happy and playful girl, and has the most fun rolling around on the floor wrestling with her big brother. Each night at bedtime now, we hold the back of her hand to our lips and say “we love you forever,” because we know that someday that may be the only way to communicate with her, should there be no cure. Hold your loved ones even closer, cherish every moment….it means everything and more to us now. Keep us in your thoughts, and thank you all, from our hearts… Glenn, Cara, Beckham & Eliza.
Posted on: Fri, 23 Aug 2013 02:14:38 +0000
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