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

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...

OUR PMS STORY

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