Thanks to Heather for sending me this story, which she thinks is the first one in the US mainstream media about a child with DiGeorge. A little baby called Emma Grace was given up both by her blood mother and by her adoptive mother because of her "condition", which happens to be exactly the same as my daughter's: truncus arteriosus and DiGeorge syndrome. The poor baby lay there in hospital waiting for bypass surgery, and nobody came to visit her (though the kind nurses tried to atone for this); when she had the surgery, no-one was pacing up and down outside.
It's completely heart-breaking (and reminds me of the pregnant woman I once spoke to on the phone at the request of our joint cardiologist - her baby also has DiGeorge. Despite my best endeavours, she chose to have an abortion, which at the time made me catatonically depressed for about two weeks). This desperately sad story has a happy ending, you'll be glad to hear - you can read it in full here.
Thank you very much to everyone who wrote about Nell - I REALLY appreciate your messages.
Continue reading "The baby no-one wanted" »
Jasmine Beedles is five years old and has DiGeorge syndrome, which in her case affects her heart, lungs and bowel. Her parents, Sam and Ben (who are friends of another DiGeorge parent I know and who contacted me about this), have been told she doesn't have long to live because her heart, which is in the wrong place, is failing and can no longer be 'fixed'. "We have to go back to the hospital next week to do an end of life
plan, which we are both dreading," Jasmine's mother told her local newspaper .
What Jasmine really wants to do is go to Disneyland (she's pictured on her first visit) one more time to celebrate her sixth birthday in June, but it's expensive and her parents are not well off.
"Jasmine kept asking to stay in the Pink Hotel when we were there,
but when we priced this up it is going to cost £5,000 because we need
to take two carers. We are looking to raise this money for her, as it will be her last
holiday and we want to make it as special as possible, because she
deserves it," Jasmine's mother said.
I can't bear it. Jasmine's mother is anxious not to be seen as "scrounging for money", but let's just ignore that. You can send a cheque (made out to Ben Beedles) via the the journalist who wrote the story I've linked to above -- Stephen Mather, smather@cheshire.newsquest.co.uk at the St Helen's Star, 23a Hardshaw Street, St Helens, Merseyside. WA10 1RT; or you can send one directly to Jasmine's dad, Ben Beedles, 21 Walkers Lane, Sutton Manor, St Helen's, Merseyside, WA9 4DX.
I wouldn't normally do this - there are charities such as the Make A Wish Foundation who specialise in this kind of thing, but frankly time is of the essence, plus I got a letter this morning which made me cry, from the mother of a child with DiGeorge who died last year, aged 41, because the relevant surgery wasn't available when she was little, so DiGeorge and mortality are on my mind. And now I'm off to count my blessings.
I came across this through the VCFS group on Facebook (yes, thank you, I know, I'm too old for Facebook). Quinn Bradlee has DiGeorge syndrome/VCFS and practically lived in hospital until he was 16.
"He kept having all these terrible things wrong with him," says his mother, Sally Quinn, a Washington Post
writer. (His dad is Ben Bradlee, as in Watergate). "You'd turn around one day, and whammo — it was something else.
… You never knew where the next bomb was going to go off. We couldn't
figure out what was happening." He wasn't diagnosed until he was a teenager.
Anyway - Quinn (pictured) is now 25 and has helped make a documentary about the syndrome. It's called Anomaly Syndrome 22. I need to see this, and so do a number of you - I'll find out where it is and get back to you. Here's an article about Quinn, DiGeorge/VCFS and the whole shebang, courtesy of USA Today. I find myself curiously uplifted of a Monday morning.
From the front page of this morning's Times: news of a magic-sounding pill called PTC124 which could in time "fix" faulty genes and their associated disorders. Which would be nice.
Nell had her cardiac check-up last week. It went very well and they don't want to see her again for another year. There was a very freaked-out looking couple with a tiny baby in the waiting room, which reminded us of us this time three years ago, existing in a state of constant fear and panic. I wanted to go up to them and point at Nell doing ballet in the soft play area and say, 'Look, it's going to be okay, please don't worry,' but of course you can't without knowing their baby's medical history.
This coming Thursday we have a videofluoroscopy happening at Great Ormond Street - basically they film her palate as she makes a series of sounds on demands while keeping her head perfectly still (she's just three, so this has the potential to go really wrong, even with the lure of a Peppa Pig teddy). At 5pm we see the consultant and the plastic surgeon and are told what, if anything, can be done about her speech problem, which I was put out to see described in a letter from one department to another as "very severe". The description is accurate - I just didn't like seeing it typed out in black and white. To me she communicates beautifully and her speech has improved dramatically since her regular sessions with the genius speech therapist... but then we went to a birthday party yesterday and I was struck by how chatty her little friends were, and I suddenly felt incredibly sad. The point, I suppose, is that she doesn't feel remotely sad herself - she is the opposite of shy, jumps around, tells off anyone who gets on her nerves, and spent the afternoon racing around giggling and eating cake.
Anyway - I'm feeling some trepidation. If there's nothing they can do, we "just" get her a signing helper, which is not the end of the world. If there is stuff they can do, it's going to involve surgery, which makes me feel a bit sick. But at least her cardiologist said last week that she was 100% fit for surgery and that her heart is now in such good nick that a general anaesthetic wouldn't present any additional risk. Nevertheless, I'm feeling a bit anxious.
 Several new visitors to this blog have asked to be put in the picture about my experience with Nell. Rather than keep on repeating myself, which would be extremely boring for those of you who've read all about it in the Sunday Times before, I'm posting this here now and it'll be kept in the archives.
So if you wonder how I came to be in this boat, you could start by reading the piece below. It's ostensibly about abortion (no letters about this please: I'm personally not mad keen, but I also believe in a woman's right to choose, and I don't want to enter into a debate about termination here), but it was also the first time I wrote about Nell's illness - in fact I wrote the article four days before her open-heart surgery.
If you want more, you can read this - a column I wrote about CBeebies and which touched on special needs. The response to it was vast, so I wrote this, and here we are today. If you're after a straightforward, blow-by-blow account of what happened to us with Nell - just the facts, and no opinions, you can read a piece I wrote for The Daily Telegraph last winter here . (It is accompanied by an especially gruesome triple-chinned picture of me - I'd just like to point out that I've since lost four stone).
Yes, I know - the photograph I've used is hardcore. It's of Nell a few days after surgery. My hands have gone clammy looking at it again. But this blog is trying to tell it like it is, and that is how it was.
Continue reading "Nell, and how this blog began" »
 This really sweet and lovely baby is Alannah O'Malley, who is six months old today. Alannah has Tetralogy of Fallot and, like my own daughter, DiGeorge syndrome. Thanks very much to Rosie for sending her picture in.
Max Appeal , the charity which offers support, help and advice to parents of children with 22q11 deletion, aka DiGeorge syndrome, holds its annual conference in Leicester on October 21. Full details on their website, but the running order sounds very interesting - speakers include a cardiologist, a psychiatrist, an immunologist, and many others who have a special interest in the syndrome. (Also, any organisation that kicks off a conference with bacon rolls for everybody gets a major thumbs-up in my book). Children are welcome - there's a crèche - and there will be a party in the evening. I'm trying my hardest to re-jig my diary and get there, not least because I am fascinated by the way DiGeorge children all look different, but weirdly alike when there are more than three in a room.
India Knight was born in 1965. She lives in London with her three children,
writes a weekly column for The Sunday Times and has written two fiction books,
My life on a plate
and Don't you want me?
and a non-fiction book, The Shops.
After writing an article in The Sunday Times
about her daughter's special needs (Nell has a cardiac condition called truncus arteriosus, and DiGeorge Syndrome, aka 22q11 deletion) she was so
inundated with e-mails that she has launched this
weblog as a forum for parents in a similar position to keep in touch, compare notes and help each other.
You can read about India and her daughter here.
Send India a story by Email
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