TOTS 100 - UK Parent Blogs

Saturday, 27 October 2018

Did you see me in Crowborough High Street today dressed in my wedding gown?

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. Vote for PMSF UK

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. 

PMSF UK is a charity close to my heart as my son has Phelan-McDermid Syndrome.
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.

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.

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.

You can read more about PMS at PMSF website  and also donate to my new Virgin London Marathon fundraising page

Don't forget to vote!

Thank you so much.

Thursday, 12 January 2017

The Birthday Party

Last 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.
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.

Saturday, 27 August 2016

Baby After A Disabled Child

This 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.

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?)

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.

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.

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.

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.

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.

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.

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.

Monday, 18 May 2015

A poem about living with disability

I submitted a poem for Carers UK writing competition with the theme noone should have to care alone.. Try to read it in one breath! wink emoticon
Being the parent of a disabled child is like riding a rollercoaster that never stops!
I’m waiting expectantly in line for the slow and steady big wheel with the mind-blowing view
When suddenly I realise I’m in the wrong queue!
Before I have a chance to argue
I’m being shuffled into a coaster train
The safety bar comes down over my head and squishes my shoulders down
And I’m trapped!
The train lurches forward and I’m thrown involuntarily
Whilst suddenly at amazing speed
I’m plunged into darkness
Being thrown left and right
And forwards and backwards
I try to catch my breath but at every chance
The train dips or climbs…
Everything around me is a blur
But every now and then I see the station looming
And for a fleeting moment I think the coaster might stop!
Stop! Stop! I want to get off
But it doesn’t stop, it speeds right past
Then I feel a hand on mine
Squeezing reassuringly
It’s my partner in crime, husband, father, lover, friend
We’re riding together round every bend
I’m not afraid I’m not alone

Friday, 8 May 2015

Holidaying With a Disability

I 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.

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.

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.

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.

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.

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!

I caught myself pondering how on earth have we ended up on our twelfth wedding anniversary sleeping in separate bedrooms! HAHA

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.

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...

Thursday, 26 March 2015


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]

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.

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.

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.

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!

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 lymphedema,
Hypothyroidism, Arachnoid Cysts and other illnesses.

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.

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.

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.

Kat and Phil

Parents of Bastian