BiographyCerys was a long awaited baby, during my pregnancy I had extra increasing fluid around her[Polyhydramnios];Talipes[club foot] was diagnosed at the 20 week scan, and right renal pelvic dilatation![kidney problem]. This meant weekly scans to monitor.
She was two weeks late, followed by a 15 hour 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. A week in hospital, spending short periods of time with mum at first, then more as I got better.
Early Years
She had weekly visits to clinic for strapping on her right foot, [This is a stretchy tape wrapped around her foot and leg to keep it in a set position, to try and turn it outwards. Which is taken off at home and reapplied the following day.] Then an operation at 15months to correct the talipes [club foot] An Achilles’ release. 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, and regular changes of casts during this time.
Also Cerys had a severe milk allergy diagnosed when she was 6month old by skin prick tests, she has mild eczema, and mild asthma too.
She gets allergic conjunctivitis, allergic rhinitis, and post nasal drip,so colds are not fun at all!
Cerys had Measles for her first birthday [pre MMR at 15months!!], 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 theatre 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. it took the team 32 times to cannulate her wrist in theatre!
She had chickenpox again, very mildly at 4yrs 10months!
Cerys had the MMR Pre School booster and was fine!
Cerys had to wear day splints to help turn and hold her foot out, and night splints too - from 2yrs-5yrs! She has had three lots of casting, where she is put in a plaster cast to turn her foot out.
Cerys 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 22q11.2 done.
Blood tests confirmed this at 4years 6m! 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
We applied for a statement of SEN and were turned down, we went to tribunal in London and again were turned down. We had to re apply for a statement, 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 2006; a moderate learning base, and did 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 won’t wear them because of this!
In 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! In 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 a date for Cerys Tendon Transfer Operation, January 2007. This has been differed for 6 weeks because Cerys had a cold and wasn't well enough!
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!
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, and on her understanding of language, 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 anaesthetic!!!].
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! She uses domperidone now too. This aids motility.
She’s got tapering fingers[always wondered about these!], slightly 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 that’s our opinion as parents. She can be very narrow minded and hard to sway. She’s 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! She has vitamin D supplements.
Recent Info
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! Cerys cant walk very far without causing pains in her feet and legs and also lethargy, and over exerting herself makes her more susceptible to cough, colds and infections. Cerys has a low immune system, which works slowly.
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
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 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+.
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!
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,[not keen on for her education but socially a good move] we had several problems but on the whole it was a good year. Hopefully this year will be even better.
Cerys has glasses for reading June 2011.
Cerys has always had stomach problems, bad digestion due to her hyoptonia she's now on medication for acid reflux.She was on Ranitadine, which has been changed to domperidone. She also suffers from sinusitisi! Cerys has learning difficulties with Maths being very hard [as common in 22q11.2]. She is a good hearted young lady, who is naive.
Hi 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 wonderful and we all had a great day.
We will organise another one in October Half Term.
Cerys has been getting progressively 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 had a gastro app next week, its gluten intolerance.
We 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.
September 2012 she moved to a senior school, which has a good inclusion team[some of the main teachers need educating about SEN though].Cerys has again had lots of colds and sinusitis, and been getting headaches, which I put down to colds and sinuses etc to start with. The colds cleared up, Cerys still getting headaches in the evening, night time and worse in the morning, which ease a bit and get worse again, and her head hurts when leaning forward. So I booked an eye appointment thinking she may need new glasses! January 2013 , at the eye appointment, Papillodemia was diagnosed[blurring of the optic disk]. We were sent to the GP. Referred to the hospital, and had an MRI scan. Cerys has too much fluid around her brain and her veins are narrow here too[not surprised she has small veins everywhere else]. Idiopathic Intracranial Venous Hypertension IIH. The consultants looked at her options, a vp shunt wont fit as Cerys ventricles are too small, stents aren’t viable as she has multiple narrowings in her veins in her head, so its a Lumbo peritoneal shunt, Lp shunt. Cerys had four lumber punctures under GA, and a CT scan with contrast. Cerys had an LP shunt fitted May 28th 2013.
30th May emergency Op because she had a perforated bowel, [congenital malrotated bowel detected] and admitted to PICU. A central line fitted in theatre! [We nearly lost her]!!
Nine /ten days in PICU , morphine line, NG tube for stomach secretions, and catheter fitted, oxygen tube, fed via her veins TPN, another CT contrast scan,Infection at Lumber shunt site, antibiotics, a lumber drain done to release built up fluid, and then when improving moved to PHDU, Central line taken out and Picc line inserted, then back on the ward and home a five days later. Return for a Lumber tap to drain a build of fluid in the valve, then another op in July to reconnect the shunt tubing.
Then a long recovery at home.
Missed tons of school, because of hospital appointments, procedures, GA’s and recovery at home.
More hospital appointments, CDC appointments.
Cerys has functional gastrointestinal dysfunction and functional abdominal pain, due to poor motility, malrotated bowel and is gluten intolerant. Is now on a gluten free diet.
Cerys is also allergic to five types of antibiotics.
This horrible picu, near death experience has given Cerys Bad dreams, to add to the non sleeping problem she already has, enhanced social anxiety, school anxiety along with stress of school insisting she does GCSE's despite academically not being able [4 years behind her peers], resulted in a mental health crisis, and the emergence of 'duvet girl', home tuition and a fight with the LA, regarding school provision because mainstream clearly was detrimental to her health. Short days at school because of tiredness, due to 22q11.2, what she’s been through and the impact of IIH, and having a shunt fitted.
The LA disagreed so I appealed, and they conceded before we went to tribunal. She now has an alterative educational provision called Red Balloon of the air, and our daughter is engaged with her learning, in a plan which suits her complicated medical and educational needs.
Her leg and foot are turned in again and she has more exercises for this, she had casting done in September 2013 to help with this, however still defaults to an inward turn, which means she rotates her hip to compensate, and also trips herself over, can't walk far and is slow, uses a manual wheelchair when needed.
Her anxiety levels are very high and she’s worried about people pushing her back where her shunt it. She loves horse riding, animals, cooking, art, anime, harry potter, dr who, Sherlock Holmes, and computers.
She had Fibrous dysplasia noted on a barium swallow mri scan in Dec 2015, with debated discussions regarding the diagnosis, with a consensus agreed in Feb 2016, and flowing whole body scans, ct and mri, in addition, annual monitoring of this monostotic bone disease because it can become polyostotic or potential mMunne Albright syndrome .Unfortunately her medical list, gets longer.
• multiple medical procedures,
• multiple general anesthetics,
• 10 operations and recovery time,
• multiple hospital admissions,
• battles with various aspects of the nhs for treatment diagnosis and awareness,
• having to undergo private health investigations due to lack of knowledge or awareness or resources or care from the nhs,
• multiple stays away from home with lots of travel,
• our daughter being deemed a child in need due to the lack of support from the nhs,
• a long stay in picu [Paediatric intensive care unit] due to medical negligence, complicated surgery causing a perforated bowel, causing bowel damage and sepsis and near death experience due to not realizing this for two days despite parental concerns,
• followed by intensive home recovery care, from us and the district nurses team
• Dealing with our daughter’s speech delay and speech and language therapy and investigations,
• dealing with and getting support for our daughter’s developmental delay,
• Along with fighting the local authority for support for our daughter from playgroup to reception year when after attending a local authority LA tribunal we got her diagnosis and then a statement of special educational needs was implemented, followed by regular reviews and disagreements regarding her needs and lack of awareness of 22q,
• changes of educational provision to meet her needs,
• her statement of sen was recently updated to an EHCP,
• in year 10 a mental health crisis due to increased educational pressure and expectations of doing GCSE’s when she is not mentally capable, being at a level of a year 4 child,
• resulting in home tuition provided by school and then the LA ,
• another tribunal which the LA conceded and thus provide home alternative educational provision called Red Balloon, which educate her basic needs provides a mentor and a social group, from which she is slowly progressing at her own rate and level.
• In addition, our daughter is immune-suppressed resulting in lots of ill health, and additional care needs, multiple doctor and hospital appointments, antibiotics
• Basic blood test done at hospital due to small veins
• Intracranial hypertension IIH due to small veins and vein stenosis’s [narrowing], with four lumbar punctures to relieve high pressure
• Lumbar peritoneal shunt fitted
• Bowel difficulties and motility problems due to hypotonia, and a congenital malrotated bowel
• She has mobility difficulties due to congenital skeletal, muscle, ligament problems such as scoliosis and Talipes.
• Uses a manual wheelchair due to the above and low exercise tolerance resulting in frequent lethargy resulting in illness
• Also, she has just been diagnosed with fibrous dysplasia which is a degenerative bone disease.
• Furthermore, she has several allergies, one causing anaphylaxis.
• As well as mental health difficulties, and anxiety.
• To conclude she is also naive and vulnerable needing lots of support to learn basic life skills, and will live with us and need support her whole life.
• We moved to an extended bungalow for her benefit, so she has a bedroom downstairs, and does not have to use the stairs
• Additional broken arms x2, broken wrist, and broken elbow due to mobility issue’s, being
misaligned when mobile and lethargy
• Our daughter is registered disabled and is in receipt of high rate mobility and care from PIP.
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