tag:blogger.com,1999:blog-950610514704668490.post6209949320126476219..comments2023-08-17T00:39:54.547+10:00Comments on A little bit of Kaos: Why I am not Phelan LuckyMargarethttp://www.blogger.com/profile/06767582964487650597noreply@blogger.comBlogger4125tag:blogger.com,1999:blog-950610514704668490.post-1913333898670503842016-01-24T06:43:19.376+11:002016-01-24T06:43:19.376+11:00Kira McDonnell
I appreciate your comments and you...Kira McDonnell<br /><br />I appreciate your comments and your deep desire to support your friends (and my son). The problem I identified is not a problem with fundraising. The problem is that good intentions, awareness, hard work and luck are not a formula for seeing that quality science moves in the direction of most value to children and adults with 22q13 deletion syndrome. Without qualified and unbiased science guidance, there is a lack of science policy that prevents the POSSIBILITY of a better future from becoming a REALITY. I suspect you run your family finances primarily on priorities and planning, rather than hope and luck. Jack and David deserve at least that much consideration. <br /><br />I don't want to detract any further from the beautiful essay, above. If you want to learn exactly why I feel the research direction is misguided, you may read my blog: arm22q13.wordpress.com. It is about raising a child with 22q13 ds and the science behind it. I invite you to make comments there. My hope is that thoughtful families (and thoughtful friends like you) will begin to understand the importance of guiding research with the level of professionalism that is essential for real progress. I am 30 years into this and have not given up the hope to see science benefit David. But, on the present path, that is not happening. The sooner we fix this part, the more likely Jack will reap the benefits. That awareness is, perhaps, most important. <br /><br />Andy<br /><br />arm22q13https://www.blogger.com/profile/09103084656562425529noreply@blogger.comtag:blogger.com,1999:blog-950610514704668490.post-81209174150548647522016-01-24T06:02:45.336+11:002016-01-24T06:02:45.336+11:00A beautiful and poignant letter.
While I cannot r...A beautiful and poignant letter. <br />While I cannot relate personally as a mother of 3 neurologically "healthy" children, I can relate from the perspective of a family member to a cousin with PMG, MS and autism and as a friend to several mothers of children with varying degrees of autism along the spectrum.<br /><br />I also have the distinct honor and pleasure of calling 13 year old Jack and his amazing family my friends.<br />Jack has PMS (Ring 22). While I know his family in no way "feel lucky" that Jack was given this diagnosis, they have taken the opportunity to look at the cards that were dealt them and chose to have a positive perspective. Rather than sit back and let this extremely rare syndrome go unnoticed they have chosen to bring awareness and possibly some hope to families like yours. <br /><br />I am a big supporter of the Phelan Lucky campaign. I can't be there at 5am when Jack wakes up ready to start his day, every weekend; he likes to sleep in on school days. I can't be there to care for Jack in the way that I know it could really be helpful. What I can do is buy a t-shirt and donate money and share it with my family and friends so they can support it too. Why?Because we are all willing and wanting to help our dear friends and other families with PMS kids.<br /><br />The campaign could have easily been Phelan Love with a heart on Valentine's day or Phelan Hopeful or Blessed or you name it because these are kids that are being diagnosed and families that are living with it.<br /> <br />I can't fully relate to a PMS diagnosis, but I can honestly say that I am PHELAN LUCKY to know Jack and his family. My kids are PHELAN LUCKY to know Jack and to learn so much from him every time they spend time with him. Jack and your son Nicholas and you and all the families and those with PMS have so much to teach the world. Patience, perseverance, determination, unconditional love, understanding, faith and so much more.<br /> <br />My family of 5 is PHELAN LUCKY again this year and we are all working on growing the awareness of the campaign in our community, our schools and spreading the word as far and wide as we can. We encourage our friends to do the same because it is something. Just as the ice bucket challenge brought awareness to ALS, the Phelan Lucky campaign is hope that awareness and research and funding will come to those with PMS.<br /><br />Is it perfect? No. Show me a fundraising campaign that is. It is something. It is hope. It is a chance for more understanding of PMS in the future. It's the POSSIBILITY of more, better, hope. <br /><br />Best wishes to you and your family,<br />Kira McDonnellAnonymoushttps://www.blogger.com/profile/16325838852671527495noreply@blogger.comtag:blogger.com,1999:blog-950610514704668490.post-52755019736444062312016-01-23T09:14:57.492+11:002016-01-23T09:14:57.492+11:00Margaret sees her future with a precocious clarity...Margaret sees her future with a precocious clarity, considering she has only scratched the surface of her journey with Nicholas. (My son, David, is 30.) Some things she supposes may not occur as she predicts. Our children do grow up. They learn to worry. They are child-like in some ways, but older, too. We hope the happy ones remain happy. Many of our kids are happy as youngsters, although not all. Some of that childish self-amusement can remain and Margaret captures that essence beautifully. The two universals that make this essay one that every parent can understand are the desire for a healthy baby and the hope that our adult child will always be happy. "Not Phelan Lucky" is about giving up on the first and learning to appreciate the second. <br /><br />There is another reason for "not Phelan Lucky". This awareness campaign is about fundraising, the fundraising is about promoting science to treat 22q13 deletion syndrome and SHANK3 mutation syndrome, and those efforts for treatment are supposed to be about hope. I don't share that hope. The Phelan community lacks a well-conceived science policy. Without one, money is not well spent. Science, education, healthcare, economic, etc., are complex endeavors and too easily driven by the politics of the finances behind it. Our community lacks professional leadership. Perhaps we should stop operating on "Phelan Lucky" and start "Phelan Professional". That is when I will start feeling lucky.arm22q13https://www.blogger.com/profile/09103084656562425529noreply@blogger.comtag:blogger.com,1999:blog-950610514704668490.post-52004801705329894952016-01-22T13:06:39.323+11:002016-01-22T13:06:39.323+11:00I think you're much closer to seeing the posit...I think you're much closer to seeing the positive side than you think. A wonderful piece of writing from a wonderful person.Anonymoushttps://www.blogger.com/profile/10984056773208742174noreply@blogger.com