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

My little star

Autism (again)

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.

Banana!

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?.

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!

Return of the poo

I'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.

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?

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).

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.

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..

A t-shirt arrived for B this week that I had ordered especially from eBay. It says 22q13 Google it!

Phonecalls

I'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.

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.

More genetic results

We 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!

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 shouldn't 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.

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.