Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


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Cerys

Before Diagnosis

CerysCerys was a long awaited baby, during my pregnancy I had extra increasing fluid around her,Talipes was diagnosed at the 20 week scan, and right renal pelvic dilatation! She was two weeks late,followed by a 15hour labour; then emergency c-section. The umbilical cord was wrapped around her abdomen 5 times, she was distressed and she'd swallowed meconium.She was cut on the face during delivery, i said a quick hello, a kiss [no cuddles] and Cerys was whisked off to NICU, because she was making grunting noises.I stayed in recovery for 12hours!I had an unexplained temperature! The NICU unit took a Polaroid of Cerys for me to look at;which was lovely of them.

Early Years
She had weekly visits to clinic for strapping on her right foot, then an op at 15m to correct the talipes[club foot].She had three kidney scans[because of the antenatal renal pelvic dilatation] and a hip scan to check for possible problems because of her talipes[none found].She had a second op on her Talipes foot to realign the foot 2 weeks later.Then plaster casts for 4 months afterwards.
Also Cerys had a milk allergy diagnosed, eczema,and asthma too.
She gets allergic conjunctivitis, allergic rhinitis, and post nasal drip,so colds are not fun at all!

Cerys had Measels for her first birthday [pre MMR at15months!!], She did not build up antibodies to measles,so because of this, and the way she is when she's ill etc, we opted to give her the single vaccines of the M.M.R, costly but worth it.
Cerys had Chickenpox at 3yrs 3 months, unfortunately they started appearing as she came back from theater after her adenoidectomy; bad timing! But she'd been exposed to the virus since she started playgroup at two and half years old, on a weekly basis! She was covered, and we were isolated in a side room.
She had chickenpox again, very m idly at4yrs 10months!
Cerys had the MMR Pre School booster and was fine!

Speech and development

CerysCerys has delayed speech and development, she failed her 21 month check up; and the retest at 24 months.
She was then referred for a hearing test, which showed up as normal; she was then referred for speech therapy.
Two years and her 4th speech therapist later,we met Julie;This lady is excellent,without her we would not have been put on the road to diagnosis! She diagnosed a suspected sub mucous cleft palate, and Velo pharyngeal insufficiency and Cerys was referred to The Nuffield Throat, Nose and Ear Hospital in London ,[ Dr B McArdle and Pam Williams Chief SLT whom where both great].
From there she was referred to GOSH [Mr B Sommerlad Consultant cleft surgeon and Dr A Habel whom runs the 22q11] both of them wanted a test for 22q11 done.
Blood tests confirmed this at 4yrs6m! I've always said there was something more wrong than just delayed speech and development, but I'm only her mum!
Lots of pushing for appointments etc can only do so much; it takes a professional to question why a child speaks a certain way,to refer to a specialist to prove or disprove their concerns.

Since Diagnosis

CerysWe had to re apply for a statement , our first one was turned down, and I'm sure she's only got one now because of her diagnosis! [Apparently most LEA's automatically rejected first applications for Statements!]We got the results of her confirmed VCFS on the last day info could be submitted to the panel at CAST, whom decided on the Statement,and a kind lady faxed a copy to them !! Lots of pushing from me again, to hurry this up.
Cerys started her new school in January; a moderate learning base, and is doing really well. It's amazing what the right help can do.
She still wears a night splint[afo] and has a day splint and boots but will not wear them;her consultant said not to push her to wear the day splint.
Shoes are a nightmare to buy, her right foot is one-one half sizes [variable] smaller than her left, plus she's got high insteps, and her bones on her talipes foot aren't in the correct position still and very prominent so rub on shoes if they have a hard fabric, but she doesn't like floppy shoes she likes the support of boots, or shoes that come up high. She cannot wear trainers [or plimsolls yet because her small foot is too small!], she simply cannot get her feet in them, or if she does they rub on her and she wont wear them because of this! So she wears her shoes or goes bare footed for PE! She can wear Clarkes t-bar style shoes but for the last year we haven't been able to buy them. Clarkes young girls shoes stop at size 7, and young ladies shoes start at size 8. No shoes cross over in styles, and Cerys has a size 8lft,and6.5-7.25 ish rht foot, so we've been buying kicker boots, which open low, are soft but supportive. We buy one size but they stay on because they are boots, Cerys is o.k with them because she's used to previously wearing an afo and boots to accommodate it. Clarkes are the only shoe shop that do the 'Odd shoe service'. You pay for one and a quarter pair of shoes, and they match up two sizes of shoes, to give you a pair of shoes. The odd shoes that are left over, get sent back to the warehouse, are matched up to make a pair and sent back out.So they don't loose money, they gain it by providing this service.Saves buying two pairs of shoes though.
29th March 2006 Cerys has just failed a hearing test at school, so has again been referred for further tests.[When she had her cleft op, a test showed she had glue ear, although all previous tests showed nothing was wrong!]
Cerys has recently had a soft cast applied to her right[talipes]leg, because she is turning it inwards lots and swinging her hip out to compensate for this, also putting extra strain on her left leg, This cast will be on for two weeks then reviewed. But we both feel she'll need another operation on her right Talipes foot! This is an ongoing problem she has, and with weak floppy muscles and ligaments too, it is made worse! [23.06.06]
We have a date for Cerys Tendon Transfer Operation, 30th January.This has been differed for 6 weeks because Cerys had a cold and wasn't well enough!


Sub mucous cleft palette
This was operated on Oct 2006, luckily results where almost instant[almost because she was out of it on morphine for at least a day and then when she came to she said 'Mummy I can say 's' and 'f', Truly amazing! Her speech is improving all the time.Wow! Mr Sommerlad is a great Specialist Consultant Surgeon [GOSH].She still has a nasal quality to her speech and lots of work to do on her sound system, further tests and procedure may happen in 18m when she's old enough to have them. ie a Nasendoscopy [video tube through nose under local anesthetic!!!].

Dont give up

CerysKeep pushing and fighting for your child, no-one else will, It pays off eventually.

Cerys has a brother Ryan whom is o.k. Her dad and I are both ok too.

Other stuff
Cerys is a really bad sleeper, she's very short for her age. She gets cold after cold etc, and takes a long time to get over all her illnesses. Her immune system is ok on paper but is lousy in real life. We are getting tantrums now[never had terrible twos'],but generally she's an easy going, friendly girl. She has learning disabilities,floppy muscles and ligaments, is a very bad walker, with the added problem of her talipes; she gets constipated a lot too;Although this has improved since having calcium tablets!
Shes got tapering fingers[always wondered about these!], sightly sloping eyes, small low set ears,curly toes,a small large bridged nose; Apparently!, a nasal high pitched voice, which is not so nasal now since her op. She is also pretty, but thats our opinion as parents.She can be very narrow minded and hard to sway.Shes got a poor attention span,low self esteem, lack of confidence, and dislike of loud noises and large groups of people, and a dislike of new situations, ie visiting a clown show, but we insist she goes and that she'll be ok because it will help her get used to new things.She loves routines. We love our special girl very much. Special children are born to special people!!
We are now using calcium sandoz syrup which Cerys likes much better than the tablets!

Recent Info

Cerys19th August 2006 we saw Cerys consultant on Monday, and she's now on the waiting list for another foot op, a tendon transfer to strengthen her right foot, on the right side. We have just got the mobility aspect of DLA, we've tried to get this since diagnosis, and have finally got it! Worth the wait!

Had the 'tendon transfer op' March 2007 all went well, and she has much better foot control.Still not perfect but hey ho, an improvement!


I've recently noticed a slight bump on Cerys' back between her shoulder blades, not enough to spot by looking at her but enough to notice when applying her diprobase cream! I mentioned it to her consultant Mr Conlan when we had her foot check up in November 2007, and we had some x-rays taken. Cerys now has and is being monitored for slight Kyphosis [rounding of the spine forward/hump], and slight Scoliosis on her lower spine[curvature of the spine in an s shape]. Both of these conditions may cause problems in adolescence. But Mr Conlan was very pleased with Cerys foot, so not all gloomy news. I was hoping to be proved wrong and that it was a normal bump/quirk of her spine!
4th November Cerys fell down stairs top- bottom and broke her elbow the olecranon bone, [the funny bone]. She had an operation and has pins/wires in her arm. She's now out of plaster 3rd Dec, and moving her arm more! Another op will be scheduled in the near future to remove the pins! Cerys had play therapy before this op, which helped greatly because she completely went to pieces in March when she had her last op. I highly recommend it.

Duxford 2007 with Max Appeal

CerysHi there we went along to the Max Appeal weekend at Duxford in June 2007. We didn't make Wimploe Hall on the Sunday because Cerys has a vomiting bug! We all had a fantastic time.Just thought you'd like to see a photo!It's the one above with the Memphis Belle!

Hi there we went along to the Max Appeal weekend at Duxford in June 2007. We didn't make Wimploe Hall on the Sunday because Cerys has a vomiting bug! We all had a fantastic time.Just thought you'd like to see a photo!It's the one above with the Memphis Belle!

Hi everyone, we are doing a fundraiser on February 13th 2007 for Max Appeal!of course! we have a donation page (link below). Please donate. Thank you in advance. Tracey, Cerys, Ryan, and Royston Rascals Childminding Group.This went really well, we had lots of fun and will raise 250+.Cerys is holding Maxi Bear and her brother Ryan is sitting next to her.

The Shuttle worth collection Easter 2008
Hi we met up with two Di George families this Easter and went to the Shuttle worth Collection, we had a great day out[well ....3hrs, because our children tire so easily! The weather was good to us too!

www.justgiving.com/RoystonRascals Right Arrow

Up to date info

Aug/Sep 2009 Cerys is getting pain in her back, due to her problems there, and due to the fact her feet are flattening! We have a new exercise regime and she's being fitted for shoe inserts in November.
Her last school year saw her transfer to mainstream education, we had several problems but on the whole it was a good year.Hopefully this year will be even better.

Cerys has always had stomach problems, bad digestion due to her hyoptonia she's now on medication for acid reflux. She also suffers from sinusitis!

Contact me if you want to email or call me. I'd love to hear from you.
Tracey01763220833
traceyhennighan@yahoo.co.uk Right Arrow

Pony Riding in Cambridgeshire

CerysHi Friday 4th June we went pony riding for the afternoon, courtesy of Max Appeal.[Thank you].
We went around the field, had lunch, learnt stable management[grooming, food etc], We then rode again, and played a few games. After that we fed the ponies carrots. The weather was wonderfull and we all had a great day.
We will organise another one in October Half Term.

Cerys has been getting progressivley worse tummy aches which are not helped by pain relief or heat packs! She has had a blood test for Coeliac Disease and we are awaiting the results. She has a gastro app next week!

Calvert Weekend Sep 09

CerysWe had a lovely time Cerys enjoyed the kayaking, archery, swimming and bush craft [using flints to make a fire! & enjoyed making & cooking bread over an open fire].She loved her pony ride on an Exmoor pony called Pixie 'It was brilliant' She said.She made lots of new friends too, and had a great time socialising with them.Thanks Max Appeal for a fantastic time.