tag:blogger.com,1999:blog-62080718045196394022024-03-18T20:12:04.480-07:00Living With Phelan-McDermid SyndromeThis blog started off as Living Without A Diagnosis. But after 5 and half years we have a diagnosis.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.comBlogger59125tag:blogger.com,1999:blog-6208071804519639402.post-7811929190798489292018-10-27T09:39:00.000-07:002018-10-27T09:39:22.331-07:00 Did you see me in Crowborough High Street today dressed in my wedding gown?<span style="font-family: sans-serif; font-size: 12.8px;">I'm trying to get lots of votes in the Aviva Community Fund competition to win £1000 for the Phelan-McDermid Syndrome Foundation UK. Voting is free and easy to do. <a href="https://www.avivacommunityfund.co.uk/voting/project/view/4-1837" target="_blank">Vote for PMSF UK</a></span><br />
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I was challenged that when we reached 1500 votes I would go shopping in my wedding dress and that's what I did! I wore a sign on my back saying "not a runaway bride" as I didn't want anyone to worry about me. </div>
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PMSF UK is a charity close to my heart as my son has Phelan-McDermid Syndrome.<br />
It's so rare that he is 1 in 4 million! PMS affects every aspect of his life. He has mobility difficulties including low-muscle tone, sleep problems, behavioural difficulties, medical needs and he is completely non-verbal. He will need additional support for the rest of his life.<br />
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The Phelan-McDermid Syndrome Foundation UK (PMSF UK) is a registered charity in the United Kingdom. PMSF UK provide a supportive and inclusive community for those who have or know someone with PMS - a rare abnormality caused by a deletion, or loss, of the terminal segment of chromosome 22. There are almost 200 individuals who are diagnosed with PMS in the UK & Ireland. All individuals with PMS have difficulty communicating; many are non-verbal and have issues around cognitive development and mobility and most have low tone in their limbs. All people diagnosed with PMS need additional care to support their daily lives.<br />
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A Family Day gives those with PMS and their families the opportunity to come together to meet other families in the same situation and share knowledge and support.<br />
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You can read more about PMS at <a href="http://www.pmsf.org.uk/" target="_blank">PMSF website </a> and also donate to my new <a href="https://uk.virginmoneygiving.com/PMSFMarathon" target="_blank">Virgin London Marathon fundraising page</a><br />
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Don't forget to vote!<br />
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Thank you so much.</div>
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SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-38028604315430914592017-01-12T04:57:00.001-08:002017-01-12T05:01:52.724-08:00The Birthday PartyLast weekend, we went to our beautiful niece's first birthday party. The whole family were invited and we all went along (well minus the teenager who had to stay at home to finish homework). B was in his element. There was a bouncy castle and lots of lots of yummy food at the buffet. Birthday parties (well any parties for that matter) are always a tiny bit bittersweet for us. It's very emotional watching another child doing things that B cannot do and particularly if they are much much younger than him! It really drives it home for us how disabled and diffabled B actually is. It's getting harder and harder each time. Family and close friends are very accommodating when it comes to B. They will tolerate a lot out of love for him. However at this party B knocked over a small crawling baby as the baby wanted something B was playing with. Fortunately the baby was pretty resilient and rolled right back over for another round with not a tear in sight. We were literally watching him like a hawk just feet away and B's dad dived to intervene. But we can't constantly watch over him. I felt absolutely awful about it. The baby's mum knows B really well and is a good friend of the family. However I can't help thinking this won't always be the case. There are a lot of 'what ifs'. What if B does it to a child who isn't so resilient or a child we don't know or a parent gets really angry? B has always been like a gentle giant. He never purposely hurts anyone but the bigger he gets, the smaller the babies get and the more dangerous he is going to seem. It's pretty heartbreaking to think about this, let alone write it down. But that's where we have found ourselves now. Do we stop taking B to parties? Do we stop taking him to softplay centres? Where does it end? Driving home quietly in the car after the party, it crossed my mind that perhaps we will have to take it in turns. One of us goes to a party with the other children and one of us stays at home with B. There's an awful guilt that washes over me when I consider putting B in club (respite) so that we can go to a party without him. He loves parties! This is a reality we need to face up to. In happier news, the host gave B the most incredible personalised and special needs friendly going home bag filled with chocolate spread (B's absolute favourite) and a chewy tube amongst other things. This made me choke up a bit because it was so thoughtful and kind. Who knows what the future is going to hold now. His older sister keeps asking what B is going to be like when he's a teenager and we honestly don't know. He will probably just be the same but bigger! I only know a couple of older boys with PMS so I just have them to use for comparison.<br />
B has his own birthday party to look forward to in March and all the usual party etiquette goes out of the window! He's having a bouncy castle and a softplay all to himself. It will be his party on his terms and he'll love every minute of it.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-61633221490802750612016-08-27T07:36:00.000-07:002016-08-28T01:01:45.755-07:00Baby After A Disabled ChildThis year our lives were turned upside again with the arrival of a somewhat surprise new household member henceforth known as Lady P. My pregnancy last year came as a huge shock to us. I'll be honest, when we first realised there was something "wrong" with B, we became completely consumed with getting him 'better' which then became an obsession with getting him a diagnosis. The thought of having another child was furthest from our minds.<br />
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I had always thought in the back of my mind that I would have four children. My husband is one of four, it's a round number and well I just like things to be even. I'll confess that when it finally dawned on me how difficult life was to become with B, I grieved a little that my plans to further expand our family were over. I had to push the niggling broodiness far far away to the back of my mind and get on with taking care of B and his brother and sister. This was surprisingly easy to do as life was hectic and chaotic. I resigned myself to being a mother of three and moved on. So fast forward seven years and I imagine my utter shock and surprise as discovering I was pregnant. At nearly 40 I honestly thought it wasn't possible. I cried at the doctors. I was convinced I was peri menopausal. I was absolutely in shock. The first thoughts going through my head were panic and terror. I don't think I'd ever been so terrified. I didn't know how to tell my husband and I kept this news secret for a while whilst I tried to get my head around it. How would we cope with both my pregnancy and a new baby? We had only just moved and the house wasn't big enough for a new baby and we had no family nearby. We were just at a stage where we were coasting and things were difficult but not impossible. I'd also started a part time job earlier in the year. The timing was the worst timing ever! (Or was it?)<br />
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When I finally plucked up the courage to tell my husband, of course he flipped out too. It was never going to be easy. But we're a team and we talked and talked and talked. Eventually, we started to make sense of it all. It might not be as hard as we first thought. We can do this. And most importantly, perhaps a new baby would indeed be GOOD for our family? I actually found myself getting a little bit excited. We agreed to keep our secret really secret. We thought that people were going to judge us and think we were mad! Yes we were crazy but it had happened and we had to get on with it. Ending the pregnancy was never ever an option. I won't lie, I was absolutely terrified that the baby would be disabled too. Even though the odds of having another child with Phelan-McDermid Syndrome are 1 in 9 million, I was still worried and worried throughout the pregnancy. I could not believe we had found ourselves in this situation. The pregnancy was really hard. Much harder than with my other pregnancies which I could only put down to my age and being overweight. The typical first three months of sickness, the middle trimester where you start to show and feel a bit better just before the final trimester when the sickness returns with a whole host of other medical problems(!), sleepless nights and being too big to barely move off the sofa.<br />
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I had to be careful around B and things like putting him to bed and changing his nappy was really hard as he kicks and squirms and could easily hurt me by accident. My husband had to take on the majority of the B jobs. Every time we went to the hospital for appointments, we had to explain about B's rare condition to all the doctors, consultants and midwives. In the end they stapled a PMSF UK leaflet into the front of my maternity notes. I'm more of an expert than they are in B's syndrome but they took good care of me. I was refused a homebirth on medical grounds and whilst I could have argued this case, I conceded and let myself go down the whole hospital birth route. I was under consultant-led care and just went with it. I refused all testing in the end. Whilst there is no routine maternity testing for PMS, it is possible they could have taken a sample via amnio (the same as they might for Down Syndrome) but this itself comes with a small risk of miscarriage and we felt that it just wasn't worth the risk as the chances of this baby being affected was still so rare. I always say to people never tell me the odds because after what we've been through, it means nothing to me. I tried to enjoy the pregnancy as much as I could and it went so fast. Life is so busy and chaotic that I practically blinked and missed it. We kept it secret for so long that by the time I got to the final trimester, it seemed almost awkward to announce it so we kept it off Facebook and decided to go for an enormous 'tada' when the baby was born. We were still feeling worried/anxious that people would think we were crazy to put ourselves through this again. And true to form, there were some people who couldn't be happy for us. But we let this go.<br />
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So of course when Lady P was finally born in a quick dramatic entrance on the antenatal ward in the hospital, we were ecstatic. We announced her birth on Facebook much to the disbelief of our friends. There's not many fun surprises in life any more and it brought a great deal of pleasure to many many people, the majority of whom were really really happy for us.<br />
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The early days were again really hard but B took it mostly in his stride. In the first week, we brought Lady P home, he mostly ignored me and her. Even though he was unable to verbalise how he felt, I think he felt displaced and confused. I cried a lot. With the hormones and accompanying emotional rollercoaster, I felt like B was mad at me and I'd ruined his life. Things were never going to be the same again and it was all my fault. I had to dig deep to find the will to believe in my own advice I've always given my friends when they had babies:- time to get used to the new normal. Indeed, within weeks, life started to resemble some 'new' normality. B even started to cuddle up to Lady P in bed or pass her a pacifier or a toy. Absolutely everything we did was a new challenge. Do I leave the baby upstairs whilst I get B's breakfast? Who gets put in the car first? When we go shopping, we have to take two trolleys. B goes in the special needs trolley and Lady P in the baby trolley. Would you believe we even managed to go on a family holiday to Cornwall when she was barely a few weeks old. One of us pushes the baby in a pram and one of us pushes B in his wheelchair. When Phil had to return to work, I was terrified of how I would cope and didn't leave the house. I had shopping delivered to my door. When B wasn't at school, he would pull on the front door handle, desperate to go out. I actually only ventured out with them both recently after over five months and it was scary. B requires so much support that it's really a two-person job taking him out. This is something I'm working on.<br />
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My biggest fear right now is that there is something wrong with Lady P. Whilst I was pregnant, I telephoned and spoke with B's geneticist at St George's in London. I told her I wanted to get the baby tested after it was born and she advised me against it, suggesting that I just enjoy the baby and to get in touch again if anything felt different. So now I watch the baby like a hawk and scrutinise every little thing she does or doesn't do. I try not to let it ruin her babyhood but there is this desperate need inside of me to see her meet her milestones. B's babyhood consisted of appointment after test after appointment after therapy. The prospect of going through that again makes me physically sick. I didn't get to enjoy B's babyhood. But you know what, even if there was something wrong with her, be it PMS or anything else for that matter, we are well equipped to deal with that and we would! At the moment Lady P 'should' be rolling but she isn't. It's around this same age that I started to realise that B was different to other babies. Once she conquers this skill, I think I will be able to relax a little bit. She already shows other signs that she's 'normal' like gurgling, babbling and bearing weight on her legs. I realise that the rest of ours lives are probably going to be a bit like this and I can't help it but that's the way it is.<br />
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B and Lady P are going to be best friends. I find myself wondering what she'll make of him as she gets older. We joke about how she'll get him into trouble when she realises she can blame him for things and he can't defend himself. I find myself in awe of my special needs mum friends who have an older disabled child and younger 'normal' children. But mostly, I feel so so lucky and blessed to get the opportunity to do this again that I will not take anything for granted.<br />
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<b>When I sat tearfully in the doctor's office, clutching my positive pregnancy test, he said to me "a year from now you will have this beautiful baby and wonder what all the fuss was about". You know what. He was right.</b>SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com1tag:blogger.com,1999:blog-6208071804519639402.post-10107957160557154522015-05-18T03:49:00.002-07:002015-05-18T03:49:50.652-07:00A poem about living with disability<div style="background-color: white; color: #666666; font-family: helvetica, arial, 'lucida grande', sans-serif; font-size: 12px; line-height: 16.0799999237061px; margin-bottom: 1em; margin-top: 1em;">
I submitted a poem for <a class="profileLink" data-gt="{"entity_id":"44590599003","entity_path":"\/groups\/profile.php"}" data-hovercard="/ajax/hovercard/page.php?id=44590599003" href="https://www.facebook.com/carersuk" style="color: #3b5998; cursor: pointer; text-decoration: none;">Carers UK</a> writing competition with the theme noone should have to care alone.. Try to read it in one breath! <i class="_4-k1 img sp_F_yq1ezxho8 sx_24c3c4" style="background-image: url(https://fbstatic-a.akamaihd.net/rsrc.php/v2/ye/r/sinZfNNNFDk.png); background-position: 0px -8160px; background-repeat: no-repeat; background-size: auto; display: inline-block; height: 16px; vertical-align: -3px; width: 16px;"><u style="left: -999999px; position: absolute;">wink emoticon</u></i></div>
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Being the parent of a disabled child is like riding a rollercoaster that never stops!<br />I’m waiting expectantly in line for the slow and steady big wheel with the mind-blowing view<br />When suddenly I realise I’m in the wrong queue!<br />Before I have a chance to argue<br />I’m being shuffled into a coaster train<br />The safety bar comes down over my head and squishes my shoulders down<br />And I’m trapped!<br />The train lurches forward and I’m thrown involuntarily<br />Whilst suddenly at amazing speed<br />I’m plunged into darkness<br />Being thrown left and right<br />And forwards and backwards<br />I try to catch my breath but at every chance<br />The train dips or climbs…<br />Everything around me is a blur<br />But every now and then I see the station looming<br />And for a fleeting moment I think the coaster might stop!<br />Stop! Stop! I want to get off<br />But it doesn’t stop, it speeds right past<br />Then I feel a hand on mine<br />Squeezing reassuringly<br />It’s my partner in crime, husband, father, lover, friend<br />We’re riding together round every bend<br />I’m not afraid I’m not alone</div>
SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-3147144961475012392015-05-08T05:28:00.000-07:002015-05-08T05:41:24.744-07:00Holidaying With a DisabilityI wanted to share with you all the experience we had with our last short vacation to give you an insight into our lives living with a disabled child.<br />
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By way of background, we don't go on holiday very often! At least it seems in comparison to our network of friends and family, we go away a lot less than them. This is due in part to financial constraints but also because it's simply so much work and so stressful it's not worth the effort. We rarely travel abroad and tend to take holidays in the United Kingdom which suits us. We like to drive our own car and we don't care about the weather.<br />
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We have to take a lot of equipment when we go away with Enigma B. Even an overnight stay can result in taking the kitchen sink and a partridge in a pear tree. His wheelchair alone takes up half the boot space. We do use a roof box for longer trips but otherwise it's a case of playing boot Tetris with the bags and suitcases.<br />
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Last weekend we decided at very short notice (4 days in fact) that we wanted to go away on holiday to celebrate our 12th wedding anniversary. This is usually a celebration that takes place sans enfants but due to the short planning and serious lack of babysitting, we had the (not so) bright idea of going away as a family and celebrating WITH our children. After some internet research, we settled on a little cottage in Devon. An area of England we really love and it would afford us the opportunity to visit some much loved places in the locality. Main things we consider when looking for a cottage: how many floors does it have as B is not safe on stairs, especially in unfamiliar territory: will there be other people, B tends to be noisy, cries at night and generally disruptive when away from home: can we park easily: what are the bedrooms like: can we close the doors: are the windows safe: and of course sleeping. Beds are a huge issue for us. B sleeps in a custom-made single safety bed at home which for the most part allows us to all sleep. Sleeping away from home is an instant nightmare for me. If he cannot sleep safely where we stay then NO-ONE sleeps. We are trying to fund raise for a travel version of the safety bed (it's like a blow up tent with a zip) but whilst that is happening, we have to make do.<br />
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Prior to setting off for the trip, I searched high and low for the travel bed guard and couldn't find it anywhere. I wonder if it went missing when we moved last year. That immediately put a spanner in the works. With no time to come up with another plan, we packed late Friday night and set off early Saturday morning. When we arrived at the cottage, we immediately clocked that it was not a separate building but attached by a very thin wall to the main house of the farm. If the alarm bells hadn't been ringing already they were when we opened the door to a roaring open fire! Beautiful yet nerve wrecking for mum-of-a-disabled-child. My brain always goes into overdrive in new places. I'm scanning over the plug sockets, the fires places, trip hazards, poke hazards, sharp objects, steps, gaps, gates, catches. You get the idea! You can't tell from glossy pictures on websites what the reality will be. There are steps down to the kitchen but with a handrail that B seems to be able to navigate safely. However the main stairs to the bedroom are steep and unwieldy. He manages to go up the steps with support but can't come down by himself so he settles on the bum shuffle. Goes against what his Occupational Therapist teaches but at least he's safe and it's only for the weekend. The bedrooms aren't much better. The doors don't close properly and cannot be locked so that pretty much sealed the no sleep tonight deal.<br />
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That evening it comes to our attention that no-one (blame me) packed any wet wipes. Thank goodness we have B's incontinence pads though as you can no longer buy nappies that fit him. We are in the middle of nowhere on a farm so I have to improvise and I wash B in the bath. He of course finds this hilarious. After the second poo that night (and another poo in the morning) his third bath was getting tedious for me! Anyway that night we consider there is no point putting B to bed as he won't stay put and won't sleep. I'm seriously regretting not bringing the portable stairgate (why why why?) I think sometimes part of me is in denial and I'm trying to live as normally as possible. Imagine having a small toddler.. ALL... THE... TIME... that's what it's like having a child with Phelan-McDermid Syndrome. He's a baby that's never grown up. I went to bed in the double bedroom and the big kids were in the bunkbed in the same room and B climbed in with me His dad stayed up. I must have drifted off at some point because when I woke and reached out for B he was gone! It was dark and I panicked. Looking around in the dark, B had got in bed with his brother in the lower bunkbed. I couldn't get back to sleep properly then and just drifted in and out. B didn't sleep either and was up and about going backwards and forwards between my bed, Alex's bed and his dad who had gone to sleep in the twin room on the other side of the corridor. Every time B went from room to room I would get a cold chill worrying about whether he might suddenly veer off and fall down the stairwell. Turns out husband was worrying about this too and didn't get any sleep. If I'd thought it about logically we could have taken it in turns and slept in shifts. It had occurred to me to block the door but that's unsafe for different reasons!<br />
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I caught myself pondering how on earth have we ended up on our twelfth wedding anniversary sleeping in separate bedrooms! HAHA<br />
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The following day was then mostly spent in a tired blur. Our anniversary meal consisted of a romantic dinner for five at Harvester. At least the waiter sang to us! The next night was not much better although B did sleep for longer periods between wandering around the house.<br />
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On the morning we left, I went through all the cupboards to check we had packed everything and I found a blimmin stair gate! I can't believe there had been one there in the house all along...SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-27694480986775002442015-03-26T10:10:00.002-07:002015-03-26T10:10:06.421-07:00OUR PMS STORY<div class="MsoNormal">
<span style="font-family: Arial, sans-serif;">Our son, Bastian, is a
7-year-old boy with Phelan-McDermid Syndrome caused by a rare deletion of
Chromosome 22q13. Bastians's journey to his diagnosis was a long and
arduous road and we almost gave up hope. Until late 2013, Bastian was
described as having Global Developmental Delay - a generic term used for
children who do not have a diagnosis. We also had a long list of syndromes that
Bastian did not have. We were informed that at least half of children with GDD
never receive a formal diagnosis. It also lulled us into a belief that Bastian
would "catch up" as the term delay implies. However we have since
found this to be false. In 2011 we were given the opportunity for Bastian to
join the Deciphering Developmental Delay (DDD) study. They took blood samples
and repeatedly tested his blood for different diseases. We received regular
updates with no news. However at the end of 2013, we finally received the news
we had longed for - a diagnosis of Phelan-McDermid Syndrome. The
scientific specifics of his deletion are: Karyotype ish del (22)(q13.3q13.3)(SHANK3-)[4{/22q13.3(SHANK3x2)[1].nuc
ish(SHANK3x1)[43/100]<br />
<br />
Bastian was a happy baby who appeared to be in good health. We first noticed
that something was wrong when he was about 3 months old. He was floppy and
wouldn't bear weight on his legs. Bastian was our third baby and everyone
else just believed he was a late developer because he was lazy. We really had
to push for help and so begun our journey of hospital visits, blood tests, MRI
scans, appointments, assessments, therapies and so on. Bastian was
delayed in all areas. His muscle tone was low and this made standing, crawling
and walking difficult. He wore a specially adapted safety helmet because he
fell over so much. We began an intensive program of speech, occupational, and
physical therapies. His speech wasn't developing although he was noisy with
sounds and shouts! He wore special boots to support his ankles. He
finally walked just before his third birthday but speech continued to elude
him.</span><o:p></o:p></div>
<div class="MsoNormal">
<span style="font-family: Arial, sans-serif;"><br />
With a lack of diagnosis and thus lack of personalised support, Bastian
continued to both confuse and amaze health professionals, earning him the
nickname of "enigma" . His hearing was tested twice and deemed
normal, but no speech came. He displayed characteristics of autistic
behaviour yet showed no social communication difficulties. His puffy feet gave
no clues. His MRI scan whilst "abnormal" did not result in a
diagnosis. He found sleeping difficult and cried every night for no apparent
reason. In spite of all our efforts, Bastian did not catch up to his
peers. In fact, with each passing year, he fell further and further
behind in all areas of development. At times, we would see Bastian
gain skills only to lose them quickly with regression. No matter what we
did, nothing seemed to help him.<br />
<br />
There are very few things Bastian can do independently and he requires constant
supervision. He has severe cognitive impairment and significant global
delays. He cannot speak and continues to have mobility difficulties,
tripping and banging into things. He is unable to walk for very long periods of
time and is dependent on a wheelchair when out in the community. He eats
food too quickly without chewing and chokes on his food almost daily. He
is not toilet trained and needs help to get dressed. He sleeps in a specially
made cot bed with a support mattress for his own safety. He needs care
for every moment of every day.<br />
<br />
Behaviorally, Bastian is a happy, loving, affectionate boy. He rarely
gets upset and has a laid-back personality. He loves to have his hand
held and to cuddle. He likes to pinch the skin on people's elbows. He
often chews and sucks his clothes. He is always smiling and loves to give high
fives!</span><o:p></o:p></div>
<div class="MsoNormal" style="margin-bottom: 12.0pt; mso-margin-top-alt: auto;">
<span style="font-family: Arial, sans-serif;"><br />
As Bastian gets older, we are experiencing new challenges. He had his first
seizure in 2013. Bastian is also at risk of other problems associated with
Phelan-McDermid Syndrome eg <span style="background: white;">lymphedema, </span></span><span style="background: white; color: #724128; font-family: "Arial",sans-serif;">Hypothyroidism,
Arachnoid Cysts and other illnesses.</span><span style="font-family: Arial, sans-serif;"><br />
<!--[if !supportLineBreakNewLine]--><br />
<!--[endif]--></span><o:p></o:p></div>
<div class="MsoNormal">
<span style="font-family: Arial, sans-serif;">If you asked us if we could
change just one thing that would improve the quality of life for Bastian and
our entire family, what would we change. What would we change? Would we
want him to talk? Of course we would! Oh how we would love to hear him
call us mummy and daddy. Would we rid him of hypotonia and poor motor
planning? It would be helpful if he could dress himself independently and
not fall in the road. Would we fix his digestive issues? He could feed himself
without fear of choking or would we pick toilet training? We would be so
happy to not have to change nappies and clean up messes. What about
seizures? Seizures are really scary. If we could not worry about
seizures, that would be a relief. </span><o:p></o:p></div>
<div class="MsoNormal">
<span style="font-family: Arial, sans-serif;"><br />
We are happy with any improvement and do not mourn the loss of a skill If
we could change one of his many limiting issues, it would be life altering for
him and for us. It would change his quality of life dramatically and ease
the demands of constant care.<br />
<br />
We can hope and dream they will find a cure to treat everyone with PMS but in
the meantime with an uncertain future, we take each day as it comes.</span><o:p></o:p></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span style="font-family: Arial, sans-serif;">Kat and Phil</span><o:p></o:p></div>
<br />
<div class="MsoNormal">
<span style="font-family: Arial, sans-serif;">Parents of Bastian</span><o:p></o:p></div>
SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com7tag:blogger.com,1999:blog-6208071804519639402.post-54245935939742946262014-01-18T11:28:00.001-08:002014-01-18T11:28:25.408-08:00My little star<div class="separator" style="clear: both;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhZuLF6yILEWHCguydnQtWYKG7d8n8xWnriudVer32drpsjck3h74VeRHhEFy4jq5GJdMza24IG3gEMZSwPElusV1iHYjE7BdYcF1jFhhhZBls0zFlu2x4oZhNMV7f1p0pE6zAi0MYCVjwg/s640/blogger-image--727639995.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhZuLF6yILEWHCguydnQtWYKG7d8n8xWnriudVer32drpsjck3h74VeRHhEFy4jq5GJdMza24IG3gEMZSwPElusV1iHYjE7BdYcF1jFhhhZBls0zFlu2x4oZhNMV7f1p0pE6zAi0MYCVjwg/s640/blogger-image--727639995.jpg"></a></div>SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-16909261733526772672013-10-28T12:25:00.001-07:002013-10-29T02:34:42.127-07:00Autism (again)<div>
<span style="font-family: inherit;">This post was going to be called Living with a Diagnosis again as it's been the prevailing theme this last few weeks but after today I've returned to the Autism Again. Feeling very fed up and dejected today on the back of a positive few weeks. We have been seeing a Sleep Hygienist a few times to get some advice to help B sleep at night and in view of getting medication (hormones) to help him get to sleep if necessary. The sleep hygienist cannot prescribe the meds so we saw a doctor today. I thought it was going to be a quick appointment but it turned into one of my worst nightmares. Due to administrative error with the appointment time, I had to wait an hour. I was given the option of having another date in a few weeks time but opted to wait as it was crucial to get this problem sorted out once and for all. I did a good job of entertaining B in the waiting room.</span><br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhigZEnEQrWP74VYExsFSyOr66AolsulqokQ9AbH8nHxD5txWZGPn4kzpNxonNso59DSCj0FcQDa_tMzVxDIcZElbEk9YQq_mhZFJfV8gBC3yy0-PQA44sKZ10HLXSpfd1bkgVYs2Ccfil4/s640/blogger-image-1593631241.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhigZEnEQrWP74VYExsFSyOr66AolsulqokQ9AbH8nHxD5txWZGPn4kzpNxonNso59DSCj0FcQDa_tMzVxDIcZElbEk9YQq_mhZFJfV8gBC3yy0-PQA44sKZ10HLXSpfd1bkgVYs2Ccfil4/s640/blogger-image-1593631241.jpg" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Banana!</td></tr>
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<span style="font-family: inherit;">We drew pictures together, read books, played with make believe cooking, made and flew paper aeroplanes. I was feeling quite smug at my ability to keep him occupied but was relieved when the doctor arrived. However within just a few moments in her office she immediately got on to the topic of autism and ASD (autistic spectrum disorder). Now B has had two different assessments about a year apart with both outcomes being that he does not meet the criteria for ASD. I'm happy with this. In my view and experience he does not seem autistic although he does have some autistic traits. This is even more notable considering his diagnosis of PMS. He has frequently been described by others as unique, an enigma, not fitting any box. This was because no-one knew what was wrong with him. He was abnormal and not typical but was not typical ASD either. So you can imagine how put out I was to cover this 'old ground'. It's not that I resent a diagnosis of ASD it's just that I don't believe it 'fits' B. The PMS is the prevelent syndrome. I don't want B 'lumped' into the autistic category without considering his other needs which are due to the PMS. By all means some children with autism have PMS but not ALL children with PMS have autism - does that make sense?.</span></div>
<div>
<span style="font-family: inherit;"><br /></span></div>
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<span style="font-family: inherit;">The doctor could see I was getting upset and she kept changing the subject back to the sleep medication but then returning to the autism again! She just couldn't let it go. I tried explaining to her that lots of people think B has autism on first sight but once they get to know him it becomes obvious that he doesn't. He just shares some traits. She asked to give him another assessment (which would be his third ASD assessment) but I said no thank you for now. It's something we could consider down the road but for the time-being he had an assessment a few weeks ago and I don't think it's necessary for another one so soon. I left with B's medication prescription clutched in my hands but a sorry looking expression on my face.. The doctor seemed genuinely sorry to have brought the subject up again and I said I'm tired of hearing this repetition. I guess it's never going to be something we can truly put behind us. I appreciate that she is experienced and an expert in ASD but I am an expert in my child and I think this is one of those occasions when mum knows best!</span></div>
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SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-76408107092563406782013-10-12T08:04:00.001-07:002013-10-12T08:04:23.383-07:00Return of the pooI've being trying to get hold of B's paediatrician all week but her email is bouncing and no returned phone call. We haven't seen her at least for a year, possibly longer and in light of his new diagnosis I have many questions to ask her. We are still waiting on results of his EEG, official bloodtest results from the lab, me and hubby's bloodtest results from the genetic lab. I want a copy of his MRI brain scan results which I have never seen.<br />
<br />
Also this week fun challenge of collecting another poo sample. This is a difficult task in all ways. It's not fun. I need a 'fresh' sample so within 24 hours. I can't catch his poo at school and I'm not willing to make a request for them to send home a pooey nappy for me to open and retrieve poo. So B this morning decides to provide me a nice sample to collect which I promptly do and then it's a mad dash to the hospital to get it there on time... It's a nasty job but someone has to do it. They give you a tiny scoop and bottle. I can't decide how much to scoop, how much do they need to make a test? And do they want sweetcorn or not?<br />
<br />
Sorry if this is too much information (no I'm not sorry you are reading this blog because you are joining me on this adventure all the way - insert maniacal laugh here).<br />
<br />
En route to car I bump into sister-in-law herein known as S. S gets roped into the journey with me. I'm going down and I'm taking as many people with me. B is pleased to see S in the car. His happy. It's an hour round trip to hospital in the car and traffic. I'm glad S is keeping me company. The poo in the medic bag is sitting on the back seat. I feel like it's a scene from a movie. We pass a runaway bride in the High Street. She's a long way from the registry office and being comforted by either passers by or family members it's not clear. I feel a bit sorry for her but on with the mission.<br />
<br />
We get to the hospital and B knows exactly where he is going. But we get to the children's' OPD and it's closed! I can't believe it. All this trouble and it's closed. I'm determined to get this poo sample off. I do not want to take it home. I don't want to repeat it. We try the children's' ward and collar a nurse. She's sympathetic about the poo and wants to get it to the right department too so she sends it off in one of those awesome sucky tube thingies. We wave goodbye to the poo and head off again. I feel quite relieved that it's finally gone but also wondering WHERE has it gone? That tube could get anywhere in the hospital. S tries to reassure me. It's labelled so that's good. The question now is will I ever get results from this test or will I get a call to repeat it again with a fresh sample. Watch this space..<br />
<br />
A t-shirt arrived for B this week that I had ordered especially from eBay. It says 22q13 Google it!<br />
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<br />SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-21179786480937100152013-10-10T09:35:00.000-07:002013-10-12T14:13:55.765-07:00PhonecallsI've spoken to the geneticist again this week to ask a few more questions that I forgot to get answered during our appointment last week. I think I was a bit overwhelmed by it all and needed some time for it all to sink in. Turns out they want to study B, not because of his rare disorder, but because the researchers used very new technology to find out the results. I'm hoping they might write a paper on him. That would be very exciting.<br>
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Also this week have spoken to CAMHS a couple of times regarding B's last appointment about the possible autism diagnosis. I have never believed he has autism, the social communication disorder clinic said it's unlikely to be autism and now CAMHS do not think it's autism. So this new diagnosis has been brilliant to explain why B has autistic-like behaviour. It explains a lot. And explains why he has never been able to tick all the boxes. I feel excited.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-57118415334042480092013-10-04T14:21:00.000-07:002013-10-12T08:04:37.385-07:00More genetic resultsWe have our appointment today with the doctor from the south west Thames regional genetics service. B's daddy is able to come with us. I think it's really important that he hears from the geneticist himself. I know from previous experience that I am rubbish at appointments. I get flustered. I can't remember what's said and then I can never repeat it properly. This appointment is so important that we both need to hear the news. I also want B's daddy to be as excited as me!<br />
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We're bringing B with us and straight away he takes to the doctor and she leads him to the interview room. He is so funny he gets on the examination bed and takes off his shoes. He knows exactly what's going on and then my heart hurts a little bit that he <i>shouldn't</i> know what to do. No child should have to have been to hospital as many times as he has. It's normal for him and that makes me a bit sad. I'm bracing myself for the news and the doctor is fantastic. She gives us time to process the information, ask questions and doesn't rush us. She is clearly knowledgable in her field and B really likes her. He lets her examine his feet and listen to his chest and we convince him to get a saliva sample by pretending to brush his teeth with the scraper thingy. She also takes photos of him. The doctor gives us a leaflet about Phelan-McDermid Syndrome also unfortunately known as PMS (I mean what was wrong with calling it McDermid-Phelan Syndrome) named after the two doctors who discovered it in 1985. Doctor told me off for Googling and I swore that I didn't read about it too much which is true! It doesn't really sink in. We end the discussion with me holding back tears. It wasn't my fault after all. I've been punishing myself for 5 and half years wondering what I did or didn't do during pregnancy that caused him problems. It was just a random sequence of DNA mutation. They call it de novo which means it's not inherited. I ask her if this might explain his abnormal MRI and she thinks it probably does.</div>
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When I get home and finally research it I discover that the syndrome is much much rarer than I first thought. There are so many variations of deletion of chromosome 22 and many syndromes. Phelan-McDermid cases are rare with only 800 known cases world wide. This makes B about 1 in 9 million. There are better odds of winning the lottery.</div>
SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-7166481515738991862013-09-23T14:04:00.000-07:002013-10-07T14:19:24.650-07:00EEG testToday is the appointment to have B's EEG. B's daddy can't come with us which is okay because I think he is only allowed one person in the room with him anyway. As it happens Nanny can join us which it turns out is really good because it takes two people to pin him down! It's not as bad as it sounds. We arrive for the appointment and B is quite happy. He lies down on the floor in the waiting room and appears to have a little nap. As usual this amuses everyone. I'm used to it. It doesn't phase me any more. He tries to hang his jacket up on the big chair and can't reach. It's so sweet because this is what he has learned to do at school. He copies all his behaviours everywhere he goes whether it's appropriate or not. It's endearing now not sure how endearing it will be when he is twenty and climbing on to my lap for a cuddle. Ho hum. Anyway we don't have to wait long and he is called in to the room. B climbs onto the bed and makes himself comfy before the lady has a chance to say anything assuming he would sit on my lap. She asks him if he would like to watch a DVD. B can't speak so I answer for him (also a habit) I spot a Thomas DVD and I know he would love that so I say Thomas Thomas in an excited voice. How I imagine B would do it if he could talk.<br />
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He's quite happy he nestles down on the scrunchy blue giant loo roll blanket sheet and watches the TV screen in front of him. This is going surprisingly well. But as soon as the lady starts to stick the pads on his head his hands whip up and yank them off. This goes on for a while. His fast and stronger than expected! As soon as one gets stuck down he pulls another off. Nanny is plying him with buttons and I'm holding his hands down. It's a three man job but eventually we get the pads on and a hairnet over the top. This actually annoys him even more and he keeps trying to yank it off whilst also watching Thomas. The lady starts the EEG and keeps talking it through with us. It only lasts about 20 minutes then it's all over. The pads come off and I spend the rest of the day picking glue out of his hair. It's not a painful procedure but it was stressful and hot in the room. We wanted them to get the best results especially as I didn't fancy having to repeat this exercise any time soon. I asked if we could have the results straight away and she said no. I guess she got the information she needed but wasn't going to share it with me there and then. More waiting.<br />
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<br />SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-13036396747440525312013-09-09T13:48:00.000-07:002013-10-08T04:13:16.428-07:00EEG test letterI get a letter this week with details of B's EEG appointment following his discharge from hospital. They reckon the test is not painful or unpleasant and will take about 45 minutes to perform. A had an ECG a while back so I sort of know what to expect. They are going to stick little pads of wires all over his head and monitor his brain behaviour. This is going to be a challenge as B won't sit still - ever. Even when he is asleep he fidgets. They can't knock him out like they did for the MRI because they need to have B awake to get the figures they need. I'm a bit nervous about this appointment. I don't know how it's going to go. B's daddy can't come with me because he is already leaving work to come to B's geneticist appointment later this week. These things all seem to happen at once. It's a busy week with appointments for all the children. B is also due to see CAMHS. Nanny offers to come with me for the appointment which is helpful although I've been informed from when I took A that only one person is allowed in the room at the time.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-11368572903399216472013-09-03T14:10:00.000-07:002013-10-06T14:27:24.084-07:00Clinical Genetics Letter<div style="text-align: justify;">
I get a letter today. It's only a few sentences but the words jump out at me and I nearly pass out. It's from the Consultant and Honorary Reader in Clinical Genetics regarding the DDD study. It says "we have had some interesting results". My heart starts racing. I haven't felt this nervous/anxious since I opened my A'Level results! . I'm not sure what to do. Part of me knows from previous experience (you've read that right here in this blog over the years) that if it's good news ie the results are negative or normal or typical then they send me a letter saying so. I've NEVER had a letter that asks me to have an appointment to discuss things further. My mind is racing. It's got to be something important hasn't it. Otherwise they would put it in a letter. I can't wait for an appointment I've got to know right now. So it's nearly 5pm and I ring the number on the letter not expecting a reply but the Geneticist herself answers the phone and knows it's me straight away. I can hear her smiling on the phone so I brace myself. I have no idea what's she's going to tell me but I say to her I want to know now. I can't wait. I jot down what she tells me. B has a deletion in chromosome 22 - in some cells not all cells. He needs to repeat the blood and saliva test. She's pretty sure the results are correct because they aren't normally wrong but she says the research lab want to prove the results in a proper lab. I'm not really taking all this in but I say thanks and hang up. My head is swimming. I'm desperate to Google it but I'm scared too. We've been living without a diagnosis for 5 and half years. Part of me doesn't want to know. It's comfy not knowing. We've learned to live without a diagnosis. B gets the treatment he needs and support he needs, perhaps he doesn't need a diagnosis after all. I've got used to it. But the urge is too strong and I do a little Google, promising myself not to get too excited - just a little peak. Deletion of chromosome 22 is quite rare, about 1 in 4000. It's caused by a DNA mutation. B is an X-MEN ! How cool is that. I'm shaking a bit now and drop the news on B's daddy. He doesn't seem that excited and it upsets me a bit. It's awesome news and I want to scream. I suppose it's a bit surreal. Takes a while to sink in a little bit. We keep it to ourselves and wait for the appointment next month to get the whole picture.</div>
SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-49958166657908720672013-09-02T13:10:00.000-07:002013-10-06T14:47:13.028-07:00Hospital dischargeB gets discharged from hospital today With no further fits overnight, staff are happy to let him go home. The principal diagnosis is "febrile convulsion". I'm convinced it's related to his other problems so they put "global developmental delay and social communication disorder" on his discharge form. Investigations are "normal" and we never get the results of his urine culture. He gets a referral for an EEG. I guess they are looking for epilepsy because B is a bit too old for febrile convulsions. My research indicates that seizures are not uncommon in children with abnormal corpus callosum. B is much happier today. When he smiled at me, it was such a relief. He hadn't smiled for 24 hours and I was worried we wouldn't see his happy grin again.<br />
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It's a sad day too with mixed emotions. I am missing A's first day at high school. I wanted to be there for him, see him in his new crisp uniform and watch him off to school. It only happens once and I couldn't be there. As a parent you have to make these judgement calls. But it's still horrible choosing between your kids whatever the circumstances. Fortunately for us A is a cool guy who took it all in his stride and B' daddy sent me a picture of A in his uniform looking pleased as punch.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-19929639615545777992013-09-01T13:06:00.000-07:002013-10-07T13:00:28.091-07:00Another trip to A&EThis week B takes us all by surprise by having his first seizure or fit. It's Sunday lunchtime and B's daddy is making roast. B disappears upstairs briefly. We've started letting him do this because the team at Brainwave have suggested we give B more independence. The bottom stair gate has been removed for some time (since it fell off) and we are keeping the top gate open to allow B some freedom. He goes up to his bedroom to play which is not unusual but typically I'm always on edge, always keeping an ear open to him. This is some of the daily challenge of raising a child like B. You are always alert, never relaxing, never truly resting. Anyway, I can normally hear him playing and hear his little noises so I know he is okay. But after a little bit (I'm on the sofa knitting) I realise he's been quiet for a few minutes. So I go up to check on him and his got himself into bed and is throwing himself around the bed squirming and jerking and his eyes are rolling into the back of his head and he's moaning. It's so frightening but I don't panic. My mother's intuition tells me it's wrong and he needs help. So I call down to B's dad yelling there's something wrong with B. I get straight on the phone and dial 999. I've had to do this before so it's not as scary as the first time. I try to stay calm on the phone whilst B's daddy is trying to help B. I ask for an ambulance and explain what's wrong. It's hard to explain as we've never seen a fit before. All I know is that B is going unconscious and I'm worried he can't breath. He's now floppy and unresponsive. The ambulance doesn't come after 10 minutes and we call back. Still no sign of the ambulance and I'm pacing the path outside the house listening for the siren. The kids are freaking out too because they have never seen their brother like this and they are scared. L says she doesn't want B to die and that breaks my heart a little bit. I'm scared but trying to keep it together. The ambulance doesn't come after 30 minutes. We are still pacing with B's daddy trying to keep B awake and his breathing is funny and his tummy is making weird noises. We phone the ambulance again and they promise it's on its way. We could have got ourselves to hospital quicker than this. After about 45 minutes the ambulance finally arrives. The staff are brilliant and reassuring. The ambulance response lady on the phone says let B go to sleep so when the ambulance staff treat him they give him some oxygen and he starts to wake up a bit. Looks around but goes back to sleep again. He is like this in the ambulance to the hospital. Alert for a bit and then he conks out again. B's daddy takes A in the car and L comes with me in the ambulance.<br />
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We aren't bluelighted to hospital (which is always reassuring) and when we arrive it's back to A&E and normal A&E service resumes. We're back in the system. Sitting and waiting in the dullest place in the world. I hate A&E. The staff are overworked, tired but they do their best. I've tried to pack some stuff in a rush but I don't have everything and the kids get bored. B is just sleeping on my lap until he gets seen. After what seems like hours and explaining the same thing over and over, B finally gets admitted to the children's ward for observations. He has had his bloods taken (he was too sleepy to really complain) and his urine sampled. I haven't eaten anything since breakfast. Remember the roast that was cooking when all this happened - well that was ruined. Hospital don't provide food for guests of patients and the only food available is chocolate from the vending machine. By this point B's daddy has taken the kids home and I'm on my own with B. I can't leave him on his own and I feel a bit trapped. About 10pm I get given a beef sandwich, probably left over from the day's catering. I'm vegetarian but I'm desperate so I eat it. Fortunately B's daddy comes back later with my stuff and some goodies for me. Must remember in future to keep a packed emergency bag of supplies in the car.</div>
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One of the things that was most distressing about being in hospital is explaining to everyone that B is disabled. He can't speak and he can't answer their questions. I wanted to put a great big sign over his head saying "I CAN'T SPEAK". I had to explain it over and over. I persuaded them to let B sleep in one of the baby cots because it's not safe to let B sleep in a normal bed. He could fall out of it or even climb off it and go wondering! He was too big for the cot but he was fine curled up to sleep. I don't what we will do when he really is too big for the hospital cot. It surprises me that they don't have a better facilitiy in place for disabled adults with learning and behavioural difficulties. I'm sure we are not the only family! I sleep on a camp bed on the floor. I get some sleep on and off and B is sleeps well for a change. Staff say it's totally normal to sleep so much after a fit. B doesn't have any more fits but I'm woken up all night by observations and two more children being brought in in the middle of the night.<br />
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SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-37480529172804843852013-06-03T12:39:00.000-07:002013-10-06T13:24:41.703-07:00CAMHS ReferralI get a letter this week saying that B has had a referral to CAMHS which is the child and adolescent mental health service (who came up with this name I don't know). They have 'discussed' the concerns and want to meet to make recommendations. Another waiting list. They are trying to get their waiting list down but still likely to be a wait of several months. This is the story of my life. They promise to write again when B's name comes to the top of the waiting list.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-7792530987570731182013-04-30T03:20:00.000-07:002013-10-08T03:24:19.450-07:00DDD StudyI get a letter today from the South West Thames Regional Genetics Service about the DDD study. They are writing to tell me that the result of the array study undertaken on B has <b>not</b> so far identified the cause of their developmental difficulties. This is just a preliminary result and further research is activity continuing. Further research will include gene sequencing using the very latest technology that looks across all of the genes. A dedicated team of researchers will keep looking for a genetic diagnosis to explain B's difficulties until October 2015.<br />
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They are having considerable success in finding diagnosis for children in whom standard tests have been unsuccessful.<br />
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I'm used to hearing no news by now. I've become a little bit hard to it.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-92180312089881952102012-10-22T13:57:00.000-07:002013-10-06T14:26:46.424-07:00Brainwave Initial AssessmentI've got a letter this week from Brainwave letting me that B is on the waiting list for an initial assessment in 2013. I can't wait for this opportunity as Brainwave have come highly recommended. More waiting. They are temporarily suspending initial assessments due to a recruitment programme.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-8375810388495606112012-04-11T13:19:00.000-07:002013-10-06T13:31:31.151-07:00More genetic resultsToday I get a letter from Children's Medical Services with the results of B's latest chromosomal analysis. It's reported as 'normal'. He does not have Prader-Willi syndrome. So his excessive demand for food is more related to his behaviour and global developmental delay.<br />
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Yet another condition he does not have. The list of things he doesn't have grows longer. The frustration is overpowering.</div>
SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-71711507387952627662012-02-09T04:32:00.000-08:002013-10-16T13:52:23.789-07:00Joint social communication clinicI got a letter today saying that following the recent ESP meeting, B is on the waiting list to be seen at the Joint Social communication clinic. They want to check B for autism. I'm not convinced he is autistic. Whilst he demonstrates traits similar to autism, he does not tick all the boxes for autism and shows many signs that are not typical of autism. He is sociable, makes eye contact and has high sensory needs.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-28474529894069137762011-11-30T15:14:00.000-08:002013-10-16T13:48:07.883-07:00Development reviewWe're back at the paeditriacs again. Now B's problems are listed as developmental delay, severe speech and language delay, possible social communication disorder, abnormal corpus callosum on MRI brain scan.<br />
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I have brought up my concerns regarding the MRI brain scan and the possibility that B may have a spectrum disorder which falls under the diagnostic label of corpus collasum agenesis (I've been playing Dr Google again). The paeditrician has discussed this with the neuro-radiologist and he is of the opinion that the MRI does not confirm corpus callosum agenesis. The neurologist's opinion following an assessment last year suggested possibility of congential infection. However it is no longer possible to confirm this. B's guthrie card test which is screened for congenital infections was reported as normal. A full blood count in October 2011 showed a midly reduced serum ferritin. He has been started on iron supplements by the poo doctor.</div>
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B is howing signs of a social communication disorder. He has no speech and his communication is motoric. He interacts fairly well but his play is largely solitary. He is on the waiting list for assessment at the Join Social Communication clinic. He is also known to the regional genetic service where investigations are being undertaken to determine the reason for his global developmental delay. No results have been received thus far.</div>
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It's been agreed that it may be advisable to add to his list of diagnostic problems abnormal corpus callosum on MRI brain scan. However one cannot conclude that he falls within the spectrum of corpus callosum agenesis or hypoplasia.</div>
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I have requested a Re-referral to neurologist to consider questions about corpus callosum agenesis. More tests to exclude Prader-Willi syndrome.</div>
SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-41060069786179863032011-11-14T13:54:00.000-08:002013-10-16T13:51:46.204-07:00Doctor PooI got a letter today from the man we call the Poo Doctor. Really he is a Consultant Paediatrician in the area of gastroenterology. We went to see him in September because B has persistent loose stools and it's proving difficult to toilet train him. The results of the poo sample (that was fun collecting that I can ensure you - not) indicated a normal haemoglobin but a slightly low serum ferritin. Plasma, lactate and uric acid were normal. Eosinophil count was very mildly elevated but there was no history available of any allergic diathesis or food allergy. Elastase was normal. And not sufficient to test for reducing substances.<br />
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Suggested iron supplements and recheck full blood count and ferritin after three months. And fresh sample of stool (fantastic!) to be sent to look for reducing substances. And no routine follow up.</div>
SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-87706682813880895542011-06-21T04:27:00.000-07:002013-10-08T04:30:52.178-07:0039 month developmental checkI've got a letter this week from the GP surgery inviting B to attend a 39 month health check at the surgery. I have to chuckle a bit to myself about this. This is the first invite I have had. If I hadn't sort help all these years ago when I first suspected a delay, this might have been the first time it was picked up by a professional. Having older children alerted me to the fact B was not developing normally. I dread to think what a first time mum which a delayed child and no family would do. If you don't come into contact with other children regularly you have no basis for comparison.<br />
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For obvious reasons I refused this appointment. B already has so much intervention it wasn't necessary.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0tag:blogger.com,1999:blog-6208071804519639402.post-57832365379418183942011-04-11T13:15:00.000-07:002013-10-06T13:29:49.565-07:00More genetic resultsI get a letter today with the results of genetic testing for B to exclude Angelman syndrome. The test has come back normal. B is going to be recruited onto the DDD study (Deciphering Developmental Delay) which will be starting in a few months' time. As usual the news of a condition B doesn't have always comes with mixed reaction. I research the syndrome get myself in a panic and then feel relieved when he doesn't have it and then angry and upset again because we don't know what we're dealing with. I always think forearmed is forewarned. I crave knowledge on every topic. It's frustrating that we can't tell people what's 'wrong' with B.SlayerKathttp://www.blogger.com/profile/03583958107694148095noreply@blogger.com0