Guest guest Posted June 29, 2007 Report Share Posted June 29, 2007 Dear Congratulations on the birth of Willow, it does get easier eventually, although sleep is a major issue for lots of families. There is testing for CHD7 in the UK, I think!! you need to contact Simon through the UK support group he will know for certain, I think kirk is part of the testing or certainly knows where it can be done. We live in Manchester, and our daughter was diagnosed with charge in 2005, although our geneticist sent her blood to Holland, the diagnosis took 6 months to come back. If you want to chat email me either on here...my second home...or privately lesleychan@.... good luck and welcome here you will always have lots of support and sound advice from the people on this listserv. Lesley parent to le 13 Olivia 11 Fleur 3 and Amelie 2 with Charge > > , > Welcome to the list!! I wish I has something to say that would help. > I am still working on solids with my daughter Eva. She also has > never had sleep issues so I can't help you there. Eva was on oxygen > when she was younger is Willon on oxygen since she has the airway > issues? > I am sure someone here will be able to help and again welcome to the > group. > Willow is a very pretty name!! > Hugs, > Crystal mom to (11), (4), and Eva (2 year old CHARGEr) > wife to Dan in Illinois > www.babysites.com/sites/crystalm1476/ > > > > > > Hello, my name is and I am a mum to 9 month old Willow and > we > > live in Thurrock in Essex (is there anyone nearby?????). Willow > was > > born with choanal atresia, low muscle tone, a narrowing of her > > airway and quite bad feeding problems..................she is back > > to being NG tube fed although she tolerates solids but gags > > frequently and vomits. > > > > I am writing this hoping someone can give me some advice on > > diagnosing Charge. we have recieved information from the genetics > > team saying that CHD7 testing is not available in the UK, however > I > > have read different information saying that Great Ormond Street > > offers testing????? > > > > Also, and more importantly I need help to encourage Willow to > sleep. > > she wakes every night, crying in her sleep and we often cant wake > > her.....................we think this may be reflux (Great Ormond > > Street performed a sleep study and said her breathing pattern was > > normal), we don't get any sleep as a result and need some advice > on > > how to combat this > > Any help would be greatly appreciated. > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 29, 2007 Report Share Posted June 29, 2007 sounds more like obstructive airway, we have had several sleep studies done, and tonsils and adenoids out. Amélie frequently obstructs, and sats go as low as the 50 's one at 39. She is in 2 litres oxygen 24/7. we now have 4 nights respite wher a carer srays in her room, so we get some nights off from the no sleep!! Ensure you get a social worker, key worker etc and fight fight fight for your rights!! You will become your childs voice! hugs Lesley > > Thank you for all of your replies and kind words..........as most of > you have commented on, sleep deprivation is the worst and I only > hope that her reflux (if thats what it is) gets sorted, and the > professionals will take us seriously. I told her nurse today that > we need to have the PH test because she keeps being sick and her NG > tube keeps coming out (3 times in two days last week!!!). > > Willow is on oxygen (one of you asked) however we just had a sleep > study at great ormond street and they said that her desaturations > (which dipped to 60 in her sleep at the last study) had stopped, and > she showed no signs of abnormal sleep patterns............i'm not > convinced that this is a true indication of her sleep, because she > often takes huge breaths and seems to hold her breath/stop breathing > many times during the day!!!!!!!!!! > > thanks for listening > > > > > > > > > > > Hello, my name is and I am a mum to 9 month old Willow > and > > > we > > > > live in Thurrock in Essex (is there anyone nearby?????). Willow > > > was > > > > born with choanal atresia, low muscle tone, a narrowing of her > > > > airway and quite bad feeding problems..................she is > back > > > > to being NG tube fed although she tolerates solids but gags > > > > frequently and vomits. > > > > > > > > I am writing this hoping someone can give me some advice on > > > > diagnosing Charge. we have recieved information from the > genetics > > > > team saying that CHD7 testing is not available in the UK, > however > > > I > > > > have read different information saying that Great Ormond Street > > > > offers testing????? > > > > > > > > Also, and more importantly I need help to encourage Willow to > > > sleep. > > > > she wakes every night, crying in her sleep and we often cant > wake > > > > her.....................we think this may be reflux (Great > Ormond > > > > Street performed a sleep study and said her breathing pattern > was > > > > normal), we don't get any sleep as a result and need some > advice > > > on > > > > how to combat this > > > > Any help would be greatly appreciated. > > > > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 29, 2007 Report Share Posted June 29, 2007 Hi , Welcome to the list. You have certainly found the best place to get lots of advice and support. This list, as Les says has been a second home for us for 4 years. Our is 7 years old and we not only live in London but she has most of her care at Great Ormond Street Hospital so we have much to talk about. She too had a sleep study at GOSH and it just about showed a problem, but we do continue to have problems of a different kind. Would be happy to chat on phone so please feel free to e-mail us off list and we can give you our phone number and chat. We don't have reflux issues but am sure Simon can direct you to one or two other UK people who have. As with Amelie (and many others here), one of 's problems was tonsils and adenoids (which GOSH said were slightly enlarged but of course if you have narrow airways, slightly enlarged=obstruction!). She had them removed around 1-1/2 years ago (at GOSH) and the quality of her sleep improved remarkably even if the quantity did not. Of course it may be reflux rather than T&A but it could be both. had her CHD7 test done by Kirk's team at Children's Hospital in Birmingham. I am not sure whether they have now started generally testing. They had been working on backlog from years ago. Simon will know. I am partner to the Simon that Les mentioned. If you drop one of us an e-mail off list with your phone number, we can call you and chat. He is:- Si_@.... Better to use this address for him as he is way behind on e-mails on his CHARGE e-mail address. Look forward to getting to know you and Willow more and hopefully getting to meet you as there should be a CHARGE family day in Barnet in October or thereabouts if you are interested as well as one North England (sorry, really tired, can't recall where exactly) in Sept. Hope you get to get some sleep soon. Let us talk respite! Les will be a good advisor on this one as she has fought social services really well for this one (sorry Les, know " really well " does not describe your emotional journey!). Oh heck, our phone number is all over websites and newsletters anyway since Simon does these too so if you would like to, give us a ring on 0. Things will settle in due course, promise! Flo > > > > sounds more like obstructive airway, we have had several sleep studies > done, > and tonsils and adenoids out. > Amélie frequently obstructs, and sats go as low as the 50 's one at 39. > She is in 2 litres oxygen 24/7. we now have 4 nights respite wher a carer > srays in her room, so we get some > nights off from the no sleep!! > > Ensure you get a social worker, key worker etc and fight fight fight for > your rights!! > You will become your childs voice! > > hugs Lesley > > On 29/06/07, jennygrace20 jennygrace20@...> > wrote: > > > > Thank you for all of your replies and kind words..........as most of > > you have commented on, sleep deprivation is the worst and I only > > hope that her reflux (if thats what it is) gets sorted, and the > > professionals will take us seriously. I told her nurse today that > > we need to have the PH test because she keeps being sick and her NG > > tube keeps coming out (3 times in two days last week!!!). > > > > Willow is on oxygen (one of you asked) however we just had a sleep > > study at great ormond street and they said that her desaturations > > (which dipped to 60 in her sleep at the last study) had stopped, and > > she showed no signs of abnormal sleep patterns............i'm not > > convinced that this is a true indication of her sleep, because she > > often takes huge breaths and seems to hold her breath/stop breathing > > many times during the day!!!!!!!!!! > > > > thanks for listening > > > > -- Flo (UK) Mum to - CHARGE - (7) and Elly (4) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 29, 2007 Report Share Posted June 29, 2007 , You could also try the more informal blue food colour trick. Put a few drops of blue food colouring in her formula. If you see blue coming from her mouth or nose, you know she's refluxing. This obviously isn't foolproof but can provide some proof. Jeanie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 30, 2007 Report Share Posted June 30, 2007 Hi , Another UK family here...is and Neil and our son is 3. We're in Ascot in Berkshire and go up to Great Ormond St alot. Our testing of CHD7 was carried out in Holland but our genetist from St s in London arranged the testing for us. I have heard that GOS can also arrange it. We haven't experienced sleep probs with yet...so I can't help with that but anytime you want a chat free free to call us on 01344 891188. Look forward to hearing more about Willow. is > > Thank you for all of your replies and kind words..........as most of > you have commented on, sleep deprivation is the worst and I only > hope that her reflux (if thats what it is) gets sorted, and the > professionals will take us seriously. I told her nurse today that > we need to have the PH test because she keeps being sick and her NG > tube keeps coming out (3 times in two days last week!!!). > > Willow is on oxygen (one of you asked) however we just had a sleep > study at great ormond street and they said that her desaturations > (which dipped to 60 in her sleep at the last study) had stopped, and > she showed no signs of abnormal sleep patterns............i'm not > convinced that this is a true indication of her sleep, because she > often takes huge breaths and seems to hold her breath/stop breathing > many times during the day!!!!!!!!!! > > thanks for listening > > > > > > > > > > > Hello, my name is and I am a mum to 9 month old Willow > and > > > we > > > > live in Thurrock in Essex (is there anyone nearby?????). Willow > > > was > > > > born with choanal atresia, low muscle tone, a narrowing of her > > > > airway and quite bad feeding problems..................she is > back > > > > to being NG tube fed although she tolerates solids but gags > > > > frequently and vomits. > > > > > > > > I am writing this hoping someone can give me some advice on > > > > diagnosing Charge. we have recieved information from the > genetics > > > > team saying that CHD7 testing is not available in the UK, > however > > > I > > > > have read different information saying that Great Ormond Street > > > > offers testing????? > > > > > > > > Also, and more importantly I need help to encourage Willow to > > > sleep. > > > > she wakes every night, crying in her sleep and we often cant > wake > > > > her.....................we think this may be reflux (Great > Ormond > > > > Street performed a sleep study and said her breathing pattern > was > > > > normal), we don't get any sleep as a result and need some > advice > > > on > > > > how to combat this > > > > Any help would be greatly appreciated. > > > > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 30, 2007 Report Share Posted June 30, 2007 , I remember Kennedy taking " breathing breaks " that used to alarm me to no end. She still does it sporadically at night but not very much (she's 9) -- Personal Web Site: http://chargesyndrome.info The Adventures of Kennedy Blog: http://chargesyndrome.blogspot.com Secretary, CHARGE Syndrome Foundation Inc: http://www.chargesyndrome.org Email: lisa@... " It is far better to grasp the universe as it really is than to persist in delusion, however satisfying and reassuring. " --Carl Sagan Quote Link to comment Share on other sites More sharing options...
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