swan uk newsletter, edition 4, summer 2012

7/31/2019 SWAN UK Newsletter, Edition 4, Summer 2012

1/12

YGNETThe N ewsletter of SW AN UK

If y ou are interested in becoming a member of SW AN UKcontact Lauren on 020 7 70 4 31 41SW AN@ genetical l iance.org.ukFacebook.com/ SW ANchildrenUKTwit ter.com/ SW AN_UKYoutube .com/ SW AN childre nUK

Lif e W ithout A Dia g nosis

Edi tion 4 : Sum mer 2012

CO N TENTS2 About SW AN UK

SW AN UK Update

3 Fa milies M eeting Up

4/ 5 Tyler 's SW AN StoryDoes Your Child ComeFrom The Planet Zog?

6 / 7 Isabellas Story

8 M ed icines For Childr enNeed A Helping Ha nd?Sky Badg er

9 Fund ra ising Ne ws

10 Special Sibl ingsThe Hug e Bag ofW or ri es

1 1 Q a nd A :Your Q uestionsAnswered

1 2 G lossa ry : Finances

SW AN UK is a p roject run byG enetic Allia nce UK off eringsupp ort a nd information tofa milies of childr en withundiagnosed genetic conditions.

Registered charity (numbers1114195 SC039 29 9) A companyl imited by guarantee 057 729 99
mailto:[email protected]://www.facebook.com/SWANchildrenUKhttp://www.twitter.com/SWAN_UKhttp://www.youtube.com/SWANchildrenUKhttp://www.youtube.com/SWANchildrenUKhttp://www.twitter.com/SWAN_UKhttp://www.facebook.com/SWANchildrenUKmailto:[email protected]


2/12

SYGNET : The New sletter of SWA N UK : Sum mer 2012

Page 2 : Edition 4 : Summer 2012

membership of the regional areaFacebook groups is also growing.

W e are d el ighted that a numberof parents have now managed to

meet up (see page 3) and hope tocontinue to see more of this. If youwould like to be put in contact withother parents of undiagnosedchildren in your area, then get intouch and we will see what we cand o.

The number of people volunteeringt o f u nd ra i se f o r SW A N U Kcontinues to grow, providing a

valuable source of addi t ionalincome to help us meet the needsof the families we support, (seepage 9 ) . Our char i t y bandscontinue to be popular and wehave recently acquired hot pinkSW AN UK t-shirts fo r a nyone whofundraises for us. To find out moreabout recent fundraising or howyou can get involved contactHelen@ g enetica ll iance.org .uk.

W ith this ed ition of the newsletterwe have included envelopes so youcan raise funds by recycling oldphones or ink cartridges. If youhave any lying around please dosend them off every pennycounts!

Next t ime you are onl ine why nothead over to www.netbuddy.orgwhere the SW AN UK Coordinator

has joined as one of the residentexperts. She is on hand to answerany questions families may haveabout raising an undiagnosed child.

SW AN UK (Sy ndromes without aName) is a project run by GeneticAl l iance UK offering informationand support to families of childrenw i t h u n d i a g n o s e d g e n e t i ccondit ions. W e a im to develop acommunity of families for mutualsupport who can work together to

raise awareness of the issues theyface.

Life for families of children withundiagnosed genetic conditions isextremely isolating. Although theirc h i l d ma y h a v e s i g n i f i c a n tlearning and health dif f icult ieswithout a diagnosis they canstruggle to access information andsupp ort. W ithout a d iag nosisparents have no idea what thefuture may hold for their chi ld orwhether future children will alsobe a f fected.

If y ou or any other f a mil ies yo uknow could b enefi t f rom suppo rtfr om the SW AN UK communityplease encourage them to get intouch on 02 07 70 4 314 1 orSW AN@ ge netical l iance.org.uk

Life continues to be busy here atSW AN UK. W e now have a lmost400 famil ies known to the project

and more continue to makecontact ea ch d a y. There are over240 parents who have joined theSW AN UK Facebook group a nd

This is a great way to help raiseaw areness and every one a t SW ANUK is real ly grateful to Netbuddyfor being so support ive of ourwork.

I f you would l ike to f ind out moreab out SW AN UK or have idea s forfuture newsletters please contactLauren on 02 07 70 4 3 14 1 orSW AN @ ge netica l l iance.org.uk

The SW AN UK blog recently had aa fa ce l i f t (big thank yo u to RenataBlower for al l her hard work) andshould now be much easier for youto f ind your wa y around. If youhave a websi te or blog of yourown make sure you get ourfa bulous new ba dg e to l ink ba ck tous!

There are now over twenty SW ANUK members who blog regularlya b o u t t h e i r e x p e r i e n c e s o fp a r e n t i n g a c h i l d w i t h a nundiagnosed genetic condition. Youc a n a c c e s s t h e m a l l v i awww.swanuk.wordpress.com.

Please note that this newsletter is forinformation purposes only. All information iscorrect to the best of our knowledge at thetime of going to print. Inclusion of anyorganisations or products here does not imply

that they are recommendedor endorsed by Genet icAll iance UK orSW AN UK.

Ab out SW AN UK

SW AN UK Upd ate
mailto:[email protected]:[email protected]://www.netbuddy.org/http://www.netbuddy.org/mailto:[email protected]:[email protected]:[email protected]://www.swanuk.wordpress.com/http://www.swanuk.wordpress.com/mailto:[email protected]:[email protected]://www.netbuddy.org/mailto:[email protected]


3/12


Pa g e 3 : Ed ition 4 : Summer 2 0 1 2

In a r ecent survey w e a sked SW ANUK members to choose words which

t h e y f e l t d e s c r i b e d t h e i rexperience of parenting a chi ldwi th an und iagnosed genet iccondit ion. O ver 10 0 fa miliesresponded and the top 5 wordspicked w ere:

Frustrated (90 .8 % ) Isolated (82.7%) Stressed (79.6%) Lonely (65 .3% ) Anxious (65.3)

96.6% of members who respondedsaid they would like to see moresuppo rt spe cif ica l ly for SW AN UKfamil ies in their area and 98.9%felt their family would benefi t f romopportunities to meet other familieswith undiagnosed children. Theyalso told us:

89.4% said they thought i tw o u l d h e l p e n c o u r a g eu n d e r s t a n d i n g a b o u tund iag nosed cond itions

86.2% felt i t would helpred uce isola tion

85.1% would l ike to seeactivit ies provided

7 9 . 8 % f e l t t h e y w o u l dbenefit from help to accessservices

75.5% thought i t would helpimpro ve services

O v e r t h e l a s t f e w mo n t h s ,increa sing number s of SW AN UKmembers have been meeting up intheir local areassomething whichal l of us at SW AN UK aredelighted to see! In the comingyear we hope to enable morefamilies to meet up so if you wouldlike to be put in touch with others inyour area get in touch by cal l ing0 2 0 7 0 7 3 1 4 1 o r e ma i lSW AN @ ge netical l iance.org .uk.

Families Meeting Up

SW A N UKfamilies in theSouth ofEnglandenjoying a dayout at a localchildrens

centre.

The SWAN UK Lads from The

M idlands at N aidex

SW AN UK Families in the South W est of England enjoy days out

SW AN UK families in NorthernIreland at the Donkey sanctuary.
mailto:[email protected]:[email protected]:[email protected]


4/12



My pregnancy with Tyler appearednormal at the time but looking back Iwas real ly worr ied that he didn' t k ick

and move as much as he should have.The scan at 20 weeks also showedthat he had enlarged kidneys and Ijust ha d a weir d f eeli ng insid e me tha tsometh ing wasn ' t r i gh t o r tha tsomething would go wrong. I hadanother scan at 30 weeks and hiskidneys were sti l l large, so they saidhe would need a scan and antibioticswhen he w as born.

He was born 4 days l a te on

23 / 11 / 09 at The John Rad cl if f eHospi tal in Oxford. He weighed 9lb7oz and had to have help to bede l i v e r ed by v en tous e de l i v e r y(helped by vacuum) due to his lowmuscle to ne.

W e t o o k hi m ho m e a f t e r h isultrasound scan on his kidneys andstarted him on a course of antibiotics.From the first night home he justseemed to cry in pain all the time andafter a few months it just wouldn't go

aw ay . W e thought something w aswr ong b ut the hea lth visitor said not toworry as al l ba bies cry l ike that and i twas probably ac id ref lux or wind. Ashe was our first child we just tookeveryone's advice and got on with it.He never rea lly slep t through the nighteither and was always throwing hismilk back up. W e had to g o to a f ewhospital appointments to check on hiskidneys and he had a procedurewhere they inserted fluid up into his

bladder and x-rayed over i t to checkthere were no further problems. Theysaid everything was now fine, but themoment we were discharged I knew Iwould be going back there I just feltit .

I started taking him to mum and babygroups at our local children's centreand met other mums with babies thesame age. At 6 months I started tono t i c e t he r e was a d i f f e r enc ebetween my son and the others. Hewa s st i l l very f lop py and w as fa r fromsitting up. Everyone told me not toworry saying he was just a bit slow

and he would catch up. But he neverdid. Months and months flew by andevery week I had to sit and watchother babies reach all their milestones.By 10 months old Tyler still couldn't sit

up unaid ed and I be ga n to wo rry. Thethought that there might be somethingreal ly wrong f i l led me with horror. Ikept putting all these thoughts to theback of my head but my health visitoragreed with my concerns and fi l ledout a fo rm to send us to apaediatr ic ian.

On Tylers first birthday we went tothe hospi ta l and met wi th thepa edia tr ician. He ex amined Tyler a ndwatched him play with his toys. He

said there was definitely somethingholding him back and at 1 year oldhe was the same as a 5 month oldbaby. He said we would need toadmit him to hospital for further tests.He thought that he probably had aneuromuscular disorder or a geneticde fect / syndro me causing learningdifficulties.

W e then saw a Neurologist - a doctorthat spe cialises in bra in/ neurolog ica l

disorders who said he had "sl ightdysmorphism and sparse hair" butdidn't look l ike he had a neurologicaldisorder. He also said that Tylerdefinitely did not have a musculardisease and that i t would probablybe some kind of g enetic synd rome. Hewould need an MRI, blood samples,lumbar puncture (a procedure to takea sample of fluid from inside thelower back for testing), various hearttests, eye tests, and hearing tests etc.He then a l so began see ing aphys io therap is t , an occupat iona ltherapist, speech therapist, learningteacher and dietician.

The first blood test was awful andthey only managed to get a smal lsamp le of b lood. W e then received aletter to say it showed elevated lacticacid levels. This could have been dueto the fa ct he w a s und er a lot of stresswhen the blo od wa s collected. O r itcould be because there was a

metabolic cause for his difficulties.They repeated the test again. Thesecond test had higher lactic acid

Ty ler's SW AN Story

levels - but ag ain he wa s unde r a lotof stress when the bloo d wa s ta ken.A few months later Tyler was put

under general anaesthetic for his MRIscan and lumbar puncture. They alsotook more blood for another lact ica cid test and fo r g enetic testing.

Once again the blood test came backwith elevate d la ctic acid levels. Therewas also an above normal lactic acidrea d ing in his sp inal f luid in the lumba rpuncture test. His MRI scan showed hisbrain was normal but also had someabnormal signal changes which could

be consistent wi th a metabol ic/mitochond ria l d isea se. Because of thiswe received a letter of referral tomito chond ria l d isea se ser vices. Theywanted to investigate further formitochondrial myopathy because ofthe elevated lactic acid readings.

Tyler had to go under a nother g enera lanaesthetic to have a muscle and skinbiopsy and more blood taken. Themuscle biopsy came back normal so hed o e s n o t h a v e m i t o c h o n d r i a l

myopathy, which we were real ly gladof. They then went on to investigatefor mitochondrial cytopathies whichare a l a rge group o f d i f fe rent


5/12



mitochondrial disorder. The tests forall these came b ack neg ative.

W e then ha d a letter to sa y that theneurologist did not need to see usanymore. He had carried out al l thetests he could and unfortunately wewil l not have a diagnosis for Tyler'sdifficulties. This really angered me. Ijust wa nte d to kno w wha t it w a s!Surely there was a reason for thelactic acid in his b lood and sp inal f luidand they couldn't just dismiss us? But ifthere are no more tests left to do thenwe cant really expect much more.W e just f elt there wa s no enthusia smto solve the puzzle; they just did whatwas required and gave up.

Fortunately a few months later we gotan appointment with a mitochondrialp rof essor. She is curre ntly lookinginto Tylers mitochondrial DNA to lookfor defects. The mitochondria havetheir own DNA sepa rate to the normalnuclear DNA. She described it ashaving a map and looking downevery single street and checking allthe houses are there and then lookingat the numbers on every single door

to make sure they were all correctand in the right place. They need toeliminate each of the streets one byone. Tyler's nuclear DNA was alsobeing tested for abnormal i t ies by adi f ferent G enetics depa rtment.

The professor said she is not 100%sure Tyler has a mitochondrial diseaseand i t would probably take 10 yearst o f i n d a d i a g n o s i s a s t h emitochondrial DNA is so complex.There are only a few specialists

worldwide, her being one of them.Sometimes test results come backpointing in the direction of a certaindisease but when they look for thegenetic evidence to back it up its notthere. Therefore no diagnosis can bemade.

In October 2011, we received aletter to say an abnormality has beenfound in Tyler's nuclear DNA. Theysaid they would need both parents

blood to research further into thecause of i t. The DNA abnormality isinherited from Tyler's father, but asthere is no known gene in the region

and his father does not have the samedifficulties, i t is a normal variant andnot the reason for Tyler's problems.Tylers mitochondrial DNA is still beinglooked at but we have given up hope

of them finding anything.M e a n w h i l e , T y l e r s e e s h i sphysiotherapist and various othertherapists every 3 weeks. He is ableto sit up for a few minutes on his ownalthough he doe s fo rg et skil ls. W eonly see hospital specialists once ayear now, which is a long time to waitwhen you have so many questions,ones usually that they cannot answer.His balance is the main problem thataffects him but also his development is

sev e r e ly beh ind . A t 2 1 / 2 h isdevelopment is at 9 months old. He isa lovely l i t t le boy and he wi l l happi ly

sit and play with his toys in his highchair and special corner seat. Heabsolutely loves music and tries hishardest to dance along to it, and itcalms him down when he is upset. He

is the cheekiest most gorgeous littleboy I have ever seen and I am soproud of him regardless. He is veryhappy just being the way he is andthats what matters the most.Parenting is very different for me, butI believe everything happens for areason and he brings me so much joy.He puts a huge smile on my faceevery single day and I enjoy everyminute I spend with him. He has shownme a world I never knew existed, avery challenging and emotional worldbut I have met some amazing friendsbecause of i t and I am very happy tobe pa r t of SW AN UK!

This article was originally featuredi n t he S W A N n e w sl e t t e r i nSeptember 1990. El izabeth hasnow sadly passed away but hermum Jackie has kindly agreed toallow us to use it again does itr ing any bel ls for you?

Elizabeth is a four and half yearold l i ttle girl , who in the absence ofa diagnosis for her problems hasbeen labelled as having grossgeneralised developmental delay,growth retardation and moderateto severe learning disabilities.

These terms dont really sayanything about who Elizabeth really

is though. W e b elieve that shecomes from the planet Zog whereshe is a perfectly normal l i ttle girl ,perhaps she wil l report back on ourpeculiarities.

Let me tel l you what we know aboutZog.

Zog is obviously a superior planet.Elizabeth functions at a level whichwe are at a loss to appreciate. Itslanguage is complex just as we

start to pick up some basic Zogian,Elizabeth wil l inevitably changedialect to challenge us just that little

bi t further. The people of Zog areclearly ful l of character and just alittle mischievous! They are sopatiently tolerant of our foibles,thank g ood ness.

A year on Zog is 700 days andtherefore Elizabeths developmentis spot on. Zog is warm and wetand Zogians main interests aremusic, singing and dancing. Life isobviously one huge party. I guessthe food is like Italian, therescertainly lots of pasta: and goatsare funny and make the right sortof milk. Hopefully they also clearup after the frequent meals whichdouble as sensory experiences.

The people of Zog are miniature inevery proport ion, and beauti fulw i th candescent h igh l i gh ts i nperfectly straight hair and witheyes you fall in love with. Im thefirst in the queue when they startday tr ips to Zog. A more wonderfulpla net I ca nnot imag inewhere thesun shines down on tiny Zoglianchildren laughing and cuddling eacho t h e r , a w o r l d f r e e f r o m

compet i t ion, respons ibi l i ty andstress. Clearly a far superiorplanet.

Does Your Child Come From The Planet Zog?


6/12



Isab el la w a s bor n on the 19 th Apri l2010 at 12.54. She weighed in ata whopping 9lb 5oz, with thebiggest blue eyes you have everseen. To start with everything wasfine, she smiled at 7 weeks, lovedtummy time, laughed and therewasnt a problem.

At four months she had rolled overbut then after that did very l i t t leelse and seemed to change. Shetended to keep her hands fistedand had a habit of crossing hereyes. She was not close to sittingup and wasnt reaching out forobjects, she also had a tendency to

just use her r ig ht ha nd . I w a s ve ryconcerned and thought that hersymptoms were similar to a child

wi th cerebra l pa lsy . Cerebra lpalsy is an umbrella term for braindamage and there are severaldi f ferent types of cerebral palsy.W e we nt to the d octors with ourconcerns. W e had to rea lly p ushfor a referral from the GP to see apaediatrician. The doctor we sawsaid she was fine, there wasnothing wrong. Finally we got areferral when Isabella was sixmonths old, but this was only toreassure us, he genuinely believedt h a t I s a b e l l a w a s o k a y .Isabel la f inal ly got to see a

paediatrician when she was 11months old! After checking her overand watching what Isabella couldand couldnt do, we were told shehad a defini te problem with her

central nervous system and wouldneed an MRI ( magnetic resonancei m a g i n g ) s c a n o f h e rbrain. Although she was 11 monthsold he placed her development atapproximately 4 months old on theG rif f i ths Scale. W e p ushed him fora pre-diagnosis and he l ike methought i t was probable cerebralpalsy, but he couldnt say for sure,he would ha ve to d o more tests.

Isabella had her MRI scan in July oflast year. An MRI uses strongmagnetic f ields and radio waves totake pictures of the brain. That wasa tough day for us. She was putunder general anaesthetic, so shewasnt allowed any food from6 am on the day of her scan and i twasnt until 1p m! W e decided towake her up early, so she could atleast have her b rea kfa st a s norma l.She was so good and she didnt cryonce, even though she had missedher snack and lunch. She let thenurse put the magic cream on herhands and bandage them up andthroughout the whole time she wassmiling. It was hard holding herwhilst a team of doctors and nursesinjected her, within seconds shewas l imp and I had to leave her.That was the first t ime I had left

her, with strangers, in a strangep la ce a nd it hurt like hell. The scanresults came back normal someweeks later, this threw me; I wasconvinced that the MRI would showthat there was damage to thebrain, which would explain why shewas so far behind with herd evelop mental milestones.

Over the last year Isabella sti l l

hasnt reached any new milestones.She has very high muscle tone, thismeans the muscles in her arms aretight. It makes getting dressed and

general arm movements verydif f icult for Isabel la. Added to thisshe has involuntary movements inher arms, again these interferewhen Isabella is trying reach for

objects. She also has a tendency tobite her left hand, when she ishappy, sad, and excited andfrustrated, so practically most ofthe time. This worries us, as itleaves red teeth marks on herthumb. She is unable to hold objectsin her hands for longer than acouple of seconds, which means shecannot feed herself or play withher toy s inde pende ntly.

Isabella has variable tone in herlegs which means sometimes theyare t ight at other t imes they aremore relax ed. Isab el la has a very,very weak trunk, which means shecannot sit up unaided, she just flopsbackwards or forwards. Similarlywhen you are holding Isabella shehas a tendency to throw herselfbackwards and she feels a lotheavier, as she is not bearing anyof her weight. She also has a widebase of gait in her legs whichmeans she sits in the buggy withher legs wid e op en. W e p ra ct iseexercises in her physiotherapysessions to encourage her legs toclose tog ether.

She cannot bear any weight on herfeet. On occasion she may put herfeet down, but they turn to the side

and she curls her toes. She hasspecial shoes and leg supportscalled gaiters. The gaiters looklike shin pads. They are made of along piece of material with metalstruts inside and they ar e w ra pp edaround her legs and fastened withvelcro. She has to wear these tokeep her legs straight, along withher shoes when she goes in herstanding f rame. She is then

strapped into the standing framewith several velcro straps aroundher feet, legs and bottom. Thestanding frame is to help her

Isabellas Story


7/12



s t reng then he r musc les andencourage her to bear weight onher feet. She absolute hates it andh a s a m e l t d o w n a n d c r i e suncontrollably, so much so the

physio has said just to stand her inher shoes and gaiters. This sadly isno easier as Isabella tenses up andscreams the minute she sees hershoes and hears the velcro on thegaiters. So by the time she isstrapped up she is beside herselfand totally inconsolable thisbr ea ks our hea rts. No p ar ent wantsto see the i r ch i ld in pa in .W e have been re ferred to a

neurologist (brain specialist) whoafter assessing her in October lastyear said it wasnt cerebral palsy,but wasnt sure what it was. Her e v i e w e d h e r MR I w i t h h i scol leagues and said i t would beworth doing one again this July, tomake sure nothing is missed, as thebrain is sti l l developing. He alsorequested a lumbar puncture(where they took a sample ofspinal f luid) and blood tests whichIsabel la had done in November,fo r which she wa s sed a ted . All ofthese tests have come back normal.She was also tested for RettS y n d r o m e ( a d e g e n e r a t i v edisorder) thankfully that was alsonegative.

Back in February on the advice ofthe neurologist we tried her on L-Dopa (a medicine given to pat ients

with Parkinsons) to see if it wouldhelp her with her high muscle toneand help her arms feel more looseand re laxed, sadly it didnt. Wewerent shocked, as he said thechances of it working were verysmall, but he didnt want to leaveany stone unturned.

Isabellas daily routine includesexercise. Every morning after

b r e a k f a s t I s a b e l l a h a sa physiotherapy session with mefor an hour. These are exerciseswhich I got given by her physio.

The exercises make sure thatIsabella stays supple and that hermuscles dont seize-up, as she isntmobile. They also try to helpIsabel la understand her body, for

example Isabella cannot touch herfeet with her hands, or clap herhands, so help her do this throughexercises. The physio also comes tosee Isabel la every 3 weeks for aPhysio session and to see how she isdoing.

Isabella also has an occupationaltherapist, whose role is to adviseon specialist equipment to assist

with Isabellas daily activities. Shearranged for a special ist chair(bee chair) for Isabella. It is onwheels for use around the houseand can be made higher orlower depending on the act ivi tyIsabella is undertaking. It ensuresshe is sitting in a supportiveposition, so she can concentrate onreaching and grabbing for hertoy s. It d id ta ke Isa b ella some timeto adjust to it, but she will now sit inthere quite content for at leasthalf a n hour, b ef ore she b ecomesfrustrated and wants to come out.She has also just in the last monthgot a bath seat, which means shecan now sit in the bath and playrather than just lying flat, onsevera l b a th maths.

W e now have a speech andlanguage therapist, who visi ts

Isabella. Isabella doesnt speak,although she has just started to sayMa-ma. Isabella will eye point,which means she will look at whatshe wants. She will also vocalise indi f ferent ways and general ly weknow what scream or shout meanswhat. W e have started to introducea Big Mac switch and haverecorded the word Mummy on theswitch. I will leave the room

and someone else will tell Isabellaif she wants Mummy to come backshe needs to hit the switch. To dateit has been very successful and

Isabella understands that when shehits the switch, Mummy comesback. This will be built on in thefuture by introducing more switchesand more choices, such as food

types or toys.On the 19th of March 2012Isabel la was a very brave l i t t le girland gave more blood, this t imewithout going under anaesthetic orbeing sedated. She was a star anddidnt cry or wriggle. This blood isnow being sent for genetic testing,as all the other tests have comeback normal. This could take years,as they may f ind abnormali t ies in

her genes, but as the test is so newthey may not have the researchda ta to b ack up their f indings.

Despite al l of her dif f icult iesIsabel la is a happy, relaxed anddel ightful l i t t le girl whom weadore. She is very determined anda l i t tle f ig hter.

W e are a lway s looking f or morestories to share on the SW AN UK blogand in the newslet ter , are youinterested in sha ring yo urs?

It can be as long or as short as youlike and dont worry about yourspe lling o r gr ammar a s we ed it them.

To share your story just email it in a

word document along with any photosyou wa nt included to:

SW AN @ ge netical l iance.org .uk


8/12



W ellChild have recently launcheda new resource called Medicines

for Chi ldren, in partnership with theR C P C H ( R o y a l C o l l e g e o fPaediatrics and Child Health) andNPPG (Neonatal and PaediatricPha rma cists G ro up). You can find itonline a t:www.medicinesforchildren.org.uk/ .Medicines for Chi ldren provideonline or printed leaflets givingf r e e , p r a c t i c a l a n d r e l i a b l einformation on over 100 medicines.

W rit ten spe cif ical ly for pa rents,they answer the questions whicha re of ten a concern, such a s:

W hen and how do I g ive my childtheir medicine?

What if I forget to give the

medicine, or I give it twice?

Are there any possibly side effects?

Parents and carers can search bythe name of a medicine, the brandname of a drug or the disease,cond i t i on o r i n fec t i on be ingtreated. There is also a newssection and a range of videosshowing how to give medication.

Medicines For ChildrenAll information is written andr e v i e w e d b y p a e d i a t r i c i a n s ,pharmacists, and parents andcarers with real experience of theconcerns and issues parents face

when giving a child medicine athome.

P a re n t s h a v e b e e n a c t i v e l yinvo lved a t a l l s tages, andW ellChild continue to we lcome newparents and carers to join ourteam. This could be through helpingto make sure leaflets are easy tounderstand, giving your views onhow the resource cou ld be

developed, or by helping topromote the website by becominga Medicines for Childrenchampion.

If you have feedback on thewebsite, or wish to get moreinvolved, either contact HannahBemand a tha nnahbema nd@ wellchild.org.uk.

W ellChild's Helping Ha nds is aunique scheme offering practicalsupport to sick children and theirfamilies through one off homeimprovement projects, such as aga rden or bedroom makeover.

Need A Helping Hand?

Sky Ba d ge r to the rescue!

Sky Badger bel ieves that familylife should be full of fun andadventure especially when yourchild has a disability or l ifethrea tening illness. But too of ten, noone tells you about the help,advice and opportunit ies that areavailable to you. This is where Sky

Badger comes to the rescue.

Sky Badger is a new informationweb site where f amil ies of disa bledchildren can access most up-to-dateinformation about everything youcan do to make family l i fe better,from something as simple as freecinema tickets, to grants to helpyou buy equipment , or evenwheelchair-friendly scuba diving or

hang-gl iding.

You can f ind Sky Badger onl ine atwww.skybadger.co.uk

W hen yo u're caring f or a sick chi ld,re-decorat ing a room or adapt inga garden can seem like climbing amountain - there just aren't enoughhours in the da y . W ith the generous

help of volunteer teams fromcompanies situated local to yourfa mily W el lChi ld a re ab le to makea dramatic and last ing impact tothe daily l ives of sick childrenaround the UK.

If you are a family with a chi ldwho you think could benefit from aHelping Hands project then pleasecontact the Helping Hands team on

0 8 4 5 4 5 8 8 1 7 1 o r e m a i lh e l p i n g h a n d s @ w e l l c hi l d . o r g . ukAlternatively you can downloadand complete the appl icat ion formf rom bi t .ly/ KJad JK
http://www.medicinesforchildren.org.uk/http://www.medicinesforchildren.org.uk/http://www.medicinesforchildren.org.uk/http://www.medicinesforchildren.org.uk/mailto:[email protected]:[email protected]://www.skybadger.co.uk/http://www.skybadger.co.uk/mailto:[email protected]:[email protected]://bit.ly/KJadJKhttp://bit.ly/KJadJKhttp://bit.ly/KJadJKmailto:[email protected]://www.skybadger.co.uk/mailto:[email protected]://www.medicinesforchildren.org.uk/http://www.medicinesforchildren.org.uk/http://www.medicinesforchildren.org.uk/


9/12



Fundraising News

Since the last newsletter, threeSW AN UK member s/ supporters

have completed challenge events,raising over 500 to support ourwork. A MASSIVE THANK YOU toClive Roberts (Laurens dad) andAlex Deacon who ran the BrightonM ara thon in Apri l and to SW ANUK member Anna Grif f i ths who ranthe Bristol 10k in May. Greatpersonal achievements for them alland rea l ly g ood news for SW ANUK.

Severa l other SW AN UK membersand supporters are already raisingsponsorship for events over thenext few months. In July, GaryMaskel l and Nei l David wi l l betaking part in the London toBrighton Bike Ride and HayleyPelham and her children will betaking part in the Big Toddle. InAugust, Claire Lennon will be doinga Skydive (very brave!) and Kara

Campion Spencer will be havingher all her lovely long hair shavedoff (very, very brave!). Meanwhile,23 members of our SW AN UKFacebook group have got togetherto organise themselves to do asp onsore d w eig ht loss. SW ARM(Shed W eight and Raise M oney) 4SW AN UK has been g oing strongsince mid April.

If youd like to sponsor anyonementioned above, you can findthem by name on Virgin Givingw w w .uk . v i rg i nmoneyg i v i ng . com/giving/

Taking on a personal challengeand gett ing your friends, family,col leagues and neighbours tosponsor y ou is a g rea t wa y to ra isemoney f or SW AN UK. It ca n a lso

play an important role in raisinga w a r e n e s s o f u n d i a g n o s e dconditions and the diff iculties thatfamilies face. Sponsored runs,

swims, bike rides and countlessother challenge events take place

al l over the UK and part icipantsare usually welcome to raise fundsfor any charity they choose. Lookout for local adverts, or you canfind larger events l isted on theVirgin Giving Forum.www.uk . v i rg i nmoneyg i v i ng . com/

jf orum/ f orums/ li st.p a g e or as Karaand our SW ARM 4 SW AN UKgroup have proved, you can justtake on your ow n challenge. . .

If you are interested in raisingmoney for SW AN UK, you can f indlots of sugg estions in our SW AN UKFundraising Pack. You can find it atw w w . g e n e t i c a l l i a n c e . o r g . u k /p r o j e ct s/ p r o j e ct - d o c s/ SW A N %20 UK/ f - swa nuk- fundr a ising -p ack-2011 .pd f , or I can e-mail or postyou a copy i f you prefer.

Thanks a ga in to a l l of y ou who ar e

already fundraising to supportSW AN UK.

W hy w e need to ra ise money f orSW AN UK

The SW AN UK project is fund ed bythe National Lottery through theBig Lottery Fund. The grant coversthe costs of emp loying o ur SW ANUK Coordinator (Lauren) andproviding a basic service tofamilies in England.

Any money ra ised f or SW AN UKwil l be used to provide addit ionalservices for families with childrenwith undiagnosed conditions. Thesemight include buying in specialist

information to produce leaf letsaround subjects such as educationor social care rights, producingliterature and resources for thes ib l i ngs o f t he und iagnosedchildren known to the project orextending our services to reachf amilies in W a les, Scotland a ndNorthern Ireland. Money raisedmay also be used to help secureSWAN UKs future beyond the five

years of the Big Lottery Fundgrant .

SW AN UK is a p roject run by thecha r i t y G ene t i c A l l i ance UK(www.geneticall iance.org.uk). Anymoney you raise will init ially go toG enetic All iance UK. How ever ify ou let us know it is fo r SW AN UKwe will make sure it is only used tosup por t SW AN UK fa milies. If youdonate via the SW AN UK pa ge onVirgin Giving we wil l automatical lyknow to how to use it.

You can f ind the SW AN UK pa geon the Virgin Giving site bysearching for Genetic All iance UKa nd select the SW AN UK pa ge.Helen Parr, FundraiserHelen@ g enetica ll iance.org .uk0 2 0 7 7 0 4 3 1 4 1

Anna G riff i ths who ra n the Bristol 1 0K

Clive Robe rts and Alex Deacon who ranthe Brighton Ma ra thon
http://uk.virginmoneygiving.com/giving/http://uk.virginmoneygiving.com/giving/http://uk.virginmoneygiving.com/giving/http://uk.virginmoneygiving.com/jforum/forums/list.pagehttp://uk.virginmoneygiving.com/jforum/forums/list.pagehttp://uk.virginmoneygiving.com/jforum/forums/list.pagehttp://www.geneticalliance.org.uk/projects/project-docs/SWAN%20UK/f-swanuk-fundraising-pack-2011.pdfhttp://www.geneticalliance.org.uk/projects/project-docs/SWAN%20UK/f-swanuk-fundraising-pack-2011.pdfhttp://www.geneticalliance.org.uk/projects/project-docs/SWAN%20UK/f-swanuk-fundraising-pack-2011.pdfhttp://www.geneticalliance.org.uk/projects/project-docs/SWAN%20UK/f-swanuk-fundraising-pack-2011.pdfhttp://www.geneticalliance.org.uk/projects/project-docs/SWAN%20UK/f-swanuk-fundraising-pack-2011.pdfmailto:[email protected]:[email protected]://www.geneticalliance.org.uk/projects/project-docs/SWAN%20UK/f-swanuk-fundraising-pack-2011.pdfhttp://www.geneticalliance.org.uk/projects/project-docs/SWAN%20UK/f-swanuk-fundraising-pack-2011.pdfhttp://www.geneticalliance.org.uk/projects/project-docs/SWAN%20UK/f-swanuk-fundraising-pack-2011.pdfhttp://www.geneticalliance.org.uk/projects/project-docs/SWAN%20UK/f-swanuk-fundraising-pack-2011.pdfhttp://uk.virginmoneygiving.com/jforum/forums/list.pagehttp://uk.virginmoneygiving.com/jforum/forums/list.pagehttp://uk.virginmoneygiving.com/giving/http://uk.virginmoneygiving.com/giving/


10/12



Sp ecial Siblings

Sibs is the UK charity for peoplewho grow up wi th a disabled

b rother or sister. Siblings who growup with a disabled brother or sisteroften have more worries, moreresponsibilities and less attentionfrom parents than those who dont.They have a l i felong need forinformation and often have to copewith diff icult situations. Many feelisolated and that other people donot understand how they feel. Theya l so wan t t o have pos i t i verelationships with their disabled

brothers and sisters and to be ableto choose the role they play incurrent and future care.

Parents can talk to a ParentingSiblings Advisor in a one hourphone session on how to deal withspecific sibling issues. The advisorhelps parents feel confident aboutsupporting their sibling child andprovides them with activit ies that

are easy to use in a family wheretime and resources are limited. Anyparent who would l ike to arrangea free parenting phone session canca l l S ibs on 01535 645453 oremail info@ sibs.org .uk Visit theirwebsite www.sibs.org.uk for t ipsf o r p a r e n t s a n d f o r m o r einformation about the needs andex p eriences of siblings.

Jack at the childrens hospice enjoyingquality time with Ryan, John, Dad,Shane & Ronan.

So proud of my girls, Hope and Betsy.

Lucas had a seizure in a busy car pa rkthey listened to mum and dad heldhands. So well behaved. . Do theyunderstand how different there lives arefrom others? I hope not

Lucas, Hop e and ba by Betsy.

Joel and his twin brother Toby.

Tommy with his big sister Lissy, shesalways on hand to g ive him snug g lecuddles on a weak day.

Kara-Leighs picture of her little sisterKaci.

The Huge Bag of Worries is abook about a girl cal led Jenniewho has been worrying about a lotof di f ferent things. One day shediscovers a huge bag of worries atthe end of her bed that thenfo llows her every where . Jenny isworried she cant tell anyone aboutthe bag and i t wi l l never go awayunti l the old lady from next doorexplains that Jenny needs to open

the bag and share what is insidew ith someo ne else.

Described as a good start ing pointto encourag e chi ldren to talk a b outthings that are worrying them, thismight be a useful tool for siblingsto discuss things concerning them.

The Huge Bag of Worries iswrit ten by Virginia Ironside andpublished by Hodder ChildrensBooks.

The Huge Bag of W orries

"Being the big sister to Gracie is funm o s t o f t h e t i m e , e s p e c i a l l ywhen I g et cuddles, b ut sometimes it canb e u p s e t t i n g w h e n s h e ' scrying and screaming and we don'tknow how to help her."

Cerys and her sister Grace.
mailto:[email protected]:[email protected]://www.sibs.org.uk/http://www.sibs.org.uk/http://www.sibs.org.uk/mailto:[email protected]


11/12



Q: How can I access my childs

medical / social / educat ionalfiles?

A : W hen y our child has lots of testsand assessments done it can bealmost impossible to try and keepup with them al l . One good idea isto have a specif ic f i le where youkeep copies of all the letters youreceive.

There may be times when you wantto be able to tel l people about thetests or assessments that have beendone or access copies of reportsthat have been writ ten about yourchild. For example you might wantthese to support a request for astatutory assessment of specialeducational need (statement).

One way that you can get copiesof everything is by using yourrights under The Data ProtectionAct you can f ind out more aboutyour rights under this act online atwww.ico.gov.uk

The Data Protection Act coverspersonal information held aboutyou (or your child) this includesh e a l t h r e c o r d s . T h e I C O(Information Commissioners Office)says a health record is any record

o f i n f o r m a t i o n r e l a t i n g t osomeones physical or mentalhealth that has been made by (or

on behalf of) a health prof essional.This could be anything from the

notes made by a GP in your localsurgery to results of an MRI scan orX- rays.

Under the Data Protection Act youhave the right to see informationwhich is held about you (or yourchild) this is called your subjectaccess rights. To see theinformation that is held about you(or your child) you will need towrite a letter to the relevant

people (like your childs school)and make what is called a subjectaccess request and ask for a copyof all the information they holdabout you (or your child).

I t is a good idea to put a headingin bold at the top of the letterwhich has your name, address andany reference numbers etc that willhelp them identi fy you.

You can access a template letterfrom the ICO web site at:bi t . ly/ cPPtfn

You can a l so access morei n f o r m a t i o n a b o u t a c c e s s i n ginformation in your childs schoolf i le and a template letter toreq uest it at:b i t .l y / oYnW Ua

Some organisations may chargeyou a f ee up to 10 and a ccordingthe ICO website, There arespecial rules that apply to fees forpaper based health records (themaximum fee is currently 50) andeducation records (a sliding scalef rom 1 to 50 depending on thenumber of pages provided).

Make sure you are clear in your

letter ab out every thing you wa nt tosee i f you forget something and

have to make a second request youwi l l have to p ay the fee a ga in.

After you have made your requestand the organisation has received

the information they need toidenti fy who you are and you haveprovided the fee. It should not takemore than 40 days working days(for schools this is 15 days.) Makesure you keep a copy of the letteryou send ideal ly send i t by emailor recorded del ivery so you haveproof of del ivery.

According to the ICO website if

you have sent all the necessaryinformation (including any fee) and

the organisation does notrespond to your requestwithin 40 da ys; or

you are not satisfied withtheir response.

You should send them a reminderlet ter by recorded del ivery (andkeep a cop y of the letter).

I f you do not get a prompt reply,or if you think the information youreceive is wrong or incomplete, youcan:

ask the ICO to carry outan assessment to see whetherit is likely or unlikely that theorganisation has respondedproperly; or

take legal act ion throughthe court.

If you have a question you wouldl ike answered please email i t toSW AN @ ge netical l iance.org .uk

You can also join our Facebook

group and ask other parents theirad vice. You can f ind the gr oup aton.fb .me/ n9j1d h

Piecing Tog ether The Jigsa w : Your Q uestions Answe re d

G ot A Q uestion?
http://www.ico.gov.uk/http://www.ico.gov.uk/http://bit.ly/cPPtfnhttp://bit.ly/oYnWUahttp://bit.ly/oYnWUahttp://bit.ly/cPPtfnhttp://www.ico.gov.uk/


12/12



BT basic: BT Basic is a low-cost linerental service for people on

benefits. The BT Basic line rental is13.80 every three months. It alsoincludes a cal l al lowance of 4.50every three months. If your phonecalls to normal UK or internationaldestinations never go over thatamount, your bil l wil l never bemore than 13.80 every threemonths. You can find out more fromthe BT website or by cal l ing 08008 0 0 8 6 4 .

Carers Credit: is avai lable topeople who provide care for oneor more disabled person(s) for atotal of 20 hours or more eachweek and do not current ly receiveCarers Allowance. The credit willhelp to protect an individualsNational Insurance record to ensurethere are no gaps from having toundertake caring responsibil it ies.There are two qual i fying routes to

be able to get Carers Credit,either through the disabled personbeing enti t led to a qual i fyingbenefi t or through a cert i f icat ionroute. To find out more go tob i t .l y / JI74 N8

Council Tax: i f you are on a lowincome and are a carer or have adisabled chi ld you may be able toget a reduction or exemption fromyour council tax. You can find out

m o r e f r o mw w w . d i s a b i l i t y r i g h t s . o r g . u k /f43.htm

C inema t i cke t s : t he C inemaExhibitors Association Card (CEAC)is for anyone in receipt ofDisa b ility Living Allow a nce (DLA) orAttendance Al lowance (AA) orregistered bl ind. I t al lows a freeticket for the carer to accompanythe card holder to the cinema. You

can find out more by telephoning0 8 4 5 1 2 3 1 2 9 2 o r b yvisiting www.ceacard.co.uk/

Carers Allowance: is a benefit tohelp you i f you are caring for

someone. You may be able to getCarer's Al lowance i f you: are aged16 or over and spend at least 35hours a week caring for a personw h o g e t s e i t h e r A t t e n d a n c eAllowance or Disabi l i ty LivingAllowance (at the middle or highestrate for personal care). You can'tget Carer's Allowance if: youre infull-t ime education with 21 hours ormore a week of supervised study -or doing a course described as full-

t i m e b y t h e c o l l e g e o restablishment providing it or youearn more than 100 a week af tercertain deductions (like Income Tax)have been made You can f ind outmore f rom b i t.l y / yQ Z2oe

D i s a b l e d F a c i l i t i e s G r a n t s :provided by your local authori ty(council), these grants help towardsthe cost of adapting your home tomeet the needs of your disabledchild. This might include improvingaccess, making the property safeor improving the heating system.The maximum amount available is30,000 in England, 25,000 inNorthern I reland and 36,000 inW a les. (Scotla nd ha s its ow nsystem) Contact your local authorityto f ind out i f you are el igible andto req uest a n ap pl icat ion form. Youcan also find out more from

ww w.disab i l ityrig htsuk.org / f4 9.htm

Disability Living Allowance (DLA): isa non-means tested benefit to helpwith the extra cost of beingdisab led. W hen claiming f or achild you will need to demonstratethey need more care than a non-disabled chi ld of the same age.DLA has tw o comp onents, care a ndmobi l i ty which are awarded atdif ferent rates depending on how

severe are the needs of the personclaiming are. You can find out morea t b i t .l y / pZMvKM .

Healthy Start Vouchers: these areweekly vouchers available to some

families that can be used to buyliquid milk, infant formula, and fruitand veg that can be used in shopsdisplaying the Healthy Start sign.They are ava i lab le to somepr eg nant women and some fa mil ieswith a child under 4 who receivethe qualifying benefits. You cancheck the criteria and apply onlinea t www.healthystart.nhs.uk or cal l0 8 4 5 6 0 7 6 8 2 3 .

Housing Benefit: this helps with rentand other housing costs if you areon a low income and do not havesavings above 16,000. Extrapremiums may be avai lable i f youare a carer and have a disabledchild. To find out if you qualify andh o w t o c l a i m g o t oww w.disab i l ityrig htsuk.org / f4 4.htm

Motabi l i ty Scheme: if your child isin receipt of the high rate of

Disability Living Allowance (DLA)this scheme can help you hire orbuy a car or powered wheelchair/scooter. To find out more call 08454 5 6 4 5 6 6 o r g o t owww.motability.co.uk

W atersure: scheme to help if youl ive in England or W a les and havea water meter instal led in yourhome and struggle to pay yourbil ls because of being on a low

income or using lots of w a ter. If y ouqualify you wont have to paymore than an average householdfor your water even if you usemore water than averag e.

To f ind out i f you qual i fy go tow w w . d i s a b i l i t y r i g h t s u k . o r g /f58.htm.

For more information please visit

www.disabilityrights.org

G lossa ry - remember to keep this pa ge a s it wil l be dif fer ent ea ch ed it ion
http://www.bt.com/includingyou/other-products-services-bt-basic.html?s_cid=con_FURL_calls_basichttp://bit.ly/JI74N8http://bit.ly/JI74N8http://www.disabilityrights.org.uk/f43.htmhttp://www.disabilityrights.org.uk/f43.htmhttp://www.disabilityrights.org.uk/f43.htmhttp://www.ceacard.co.uk/http://www.ceacard.co.uk/http://bit.ly/yQZ2oehttp://bit.ly/yQZ2oehttp://c/Users/User/Desktop/edition%204/page12/www.disabilityrightsuk.org/f49.htmhttp://c/Users/User/Desktop/edition%204/page12/www.disabilityrightsuk.org/f49.htmhttp://bit.ly/pZMvKMhttp://bit.ly/pZMvKMhttp://www.healthystart.nhs.uk/http://www.healthystart.nhs.uk/http://www.disabilityrightsuk.org/f44.htmhttp://www.disabilityrightsuk.org/f44.htmhttp://www.motability.co.uk/http://www.motability.co.uk/http://www.disabilityrightsuk.org/f58.htmhttp://www.disabilityrightsuk.org/f58.htmhttp://www.disabilityrightsuk.org/f58.htmhttp://c/_works/Coordinator/edition%204/_New%20folder/additional.content.draft2/www.disabilityrights.orghttp://c/_works/Coordinator/edition%204/_New%20folder/additional.content.draft2/www.disabilityrights.orghttp://c/_works/Coordinator/edition%204/_New%20folder/additional.content.draft2/www.disabilityrights.orghttp://www.disabilityrightsuk.org/f58.htmhttp://www.disabilityrightsuk.org/f58.htmhttp://www.motability.co.uk/http://www.disabilityrightsuk.org/f44.htmhttp://www.healthystart.nhs.uk/http://bit.ly/pZMvKMhttp://c/Users/User/Desktop/edition%204/page12/www.disabilityrightsuk.org/f49.htmhttp://bit.ly/yQZ2oehttp://www.ceacard.co.uk/http://www.disabilityrights.org.uk/f43.htmhttp://www.disabilityrights.org.uk/f43.htmhttp://bit.ly/JI74N8http://www.bt.com/includingyou/other-products-services-bt-basic.html?s_cid=con_FURL_calls_basic

swan uk newsletter, edition 4, summer 2012

Documents