From	Message
Sue Monday, June 14, 2004 19:19:37	Subject: charge syndrome?? Message: Hello Does anyone onhere have a child diagnosed with "charge syndrome"? I know It has been mentiond to me before on here regarding my daughter Katie, and I think her new neurologist is going to investigate it further for us, but I dont actually know anyone with it and wondered if any of your children has it thanks Sue x
Elaine Sunday, June 20, 2004 07:51:41	RE: charge syndrome?? Message: Hi Sue, My son has CHARGE Syndrome. He is almost 7 yrs old and was diagnosed when he was 3mths old. He has/had :- C-bilateral coloboma affecting the iris and optic disc.Registered Blind H-Double outlet right ventricle, Pulmonary stenosis, VSD. Repaired Jan01. Still has PAPVD and leaky Valves and Pulmonary stenosis. A-floppy airway, now resolved R-growth >3rd centile, delayed motor skills, VERY BRIGHT. G-genital hypoplasia,renal calculi,reduced renal function. E-charachteristic CHARGE ears, no hearing loss. He also has other bits and bobs. He attends mainstream school with a 1:1 aide and is doing well. If you would like to e-mail me with your phone no. I could give you a call and give you somemore information and no's for support etc. I am the Scottish Contact no for the CHARGE Family Support Group. Take care Elaine
Amanda Sunday, June 27, 2004 21:55:12	RE: charge syndrome?? Message: Hello, I just read your posting and would appreciate if you can advise what exactly is Charge syndrome. I hope you don't mind advising me Thank you.
miss a ling Monday, June 20, 2005 22:41:12	RE: charge syndrome?? Message: hello my son is 10 weeks old and i dont understand what the future will be! can u help! we love him so much!!
Alexis Tuesday, June 21, 2005 21:29:06	RE: charge syndrome?? Message: Hi Miss A Ling, Has your son been diagnosed with Charge? My son is currently being tested for it too. He is 22 months. So we are learning alot about the condition. There is some good information about Charge on the website www.sense.org.uk and also on the webpage of the Charge Family support group at http://www.widerworld.co.uk/charge/ Feel free to email me if you want to talk further. Kind regards Alexis
A. ling Wednesday, September 28, 2005 21:21:38	RE: charge syndrome?? Message: Thank you for your reply, my son hasnt 100% been diagnosed at the moment. we have spent the last couple of months(june/july) in hospitial he has had heart surgery doing well and is such an amazing and strong little boy! How is your little boy? xxx
Frances Bush Tuesday, January 17, 2006 17:00:06	RE: charge syndrome?? Message: Our son Dominic has partial CHARGE syndrome. He is 2 and a half and is making excellent progress. I think we are through the worst bit but the future is very shady! He has R & L colobomas although his vision seems only slightly affected. Had a heart murmur but this is now innocent and no danger. His development has been very slow, meeting all his mile-stones late, needing physio, S.A.L.T., etc. but he is now blossoming. He has only 3 of the main anomalies but several of the minor ones. We are now starting the statementing process as he will start nursery in Sep. I would love to hear from someone with any similar experiences, advice, etc. Frances X
Alexis Wednesday, January 18, 2006 21:17:44	RE: charge syndrome?? Message: Hi Frances, My son Jacob is nearly 2 and a half too. We have suspected he had Charge Syndrome since birth, he has bilateral coloboma, small heart defect, hormone issues, facial palsy, feeding difficulties etc.. His DNA is currently being tested for the recently discovered Charge gene mutation, has your son been tested..? I have been told informally that they have found a mutation but I am waiting for official confirmation. Like Dominic, Jacob is delayed reaching milestones but is doing great all things considered! He starts Preschool in October. There is a very active yahoo grp for Charge...you would be welcome to join. There is also a UK Family Support group which you can join, we went to their family day in Manchester last Sept - it was great to meet others. Where are you in the UK...we are in Berkshire.. Kind regards, Alexis
Holly Saturday, November 04, 2006 02:32:47	RE: charge syndrome?? Message: Hi my name is Holly. My son is 5 months old and he has been diagnosed with CHARGE Syndrome. We have spent most of his life in the hospital. He has the C- bilateral colobomas of the retina, optic nerve and macula he is already considered legally blind, H- he had coarctation of the main artery in the heart, which was repaired in July of '06, but he also has a small hole in his heart which they are continuing to watch, He does not have the A, R- he has the reatarded growth and development, he weighed 8-1 at birth and he only weighs 13 now, G- he also has this but not bad, E- he has the outer ear abnormalities, he also has mild to conductive hearing loss in both ears. This has been a overewhelming 5 months but I am learning as I go. Any imput from anyone is always useful.
Alexis Saturday, November 04, 2006 16:09:20	RE: charge syndrome?? Message: Hi Holly, My son has Charge too. At the start it is very very overwhelming but we have found it has got easier in time. (Although still challenging!) The best resource for help we have found is to join the Yahoo email group - there is a link to it from the Charge Syndrome Foundations website. Best wishes Alexis
Frances Bush Monday, November 06, 2006 23:45:19	RE: charge syndrome?? Message: My son, Dominic is now 3 and a half. He attends nursery with a statement, and a 1:1 teaching assistant. We live in Bexleyeheath, Kent. we will be going to the CHARGE family support group next weekend in Barnet. Anyone else going? I would love to receive more stories and answer any questions. Regards, Frances
	Maximum number of reply messages has been reached, please start another thread.

Click here for MessageBoard help © MACS. Micro & Anophthalmic Childrens Society. Registered Charity number 1040074 Site redesign by Columbus Web Design