Posts in Category: Guest Posts

Hard questions – tougher answers

Everyday you wake up and your day ahead will be full of questions – What should I wear? What should I have for breakfast? Shall I go out tonight?

Having children presents you with a whole new set of questions – What should I dress them in today? Where should we go out ? Questions become a whole lot more exciting and interesting. You begin to think towards future questions like – ‘I wonder what they will grow to be: a teacher, a pilot, a doctor, famous? Will they be popular in school, intelligent? Will they get married and have children of their own?’ –  These are all questions which me and my husband faced when our darling baby boy Archie was born. Two years on and those questions have changed! Changed in the worst possible way.

Archie was taken poorly last week. After a few manic hours in Cardiff’s A & E we were told he had developed pneumonia. While we watched with heartbreak as around 10 to 15 doctors worked on Archie one doctor approached us and asked – ‘What is your end of life care plan for Archie?’ – complete and utter devastation consumed us both. We know the time will come when we have to let our little boy go, but really so soon? This was very unexpected.

During our week stay in hospital while Archie recovered we knew the haunting question we were faced with days before had to be addressed. We knew we had to discuss this along with others like, where we would like Archie to die, and how much we would want doctors to intervene with keeping our Archie a few months longer. These are the toughest most heartbreaking questions any parent could ever imagine to answer or even contemplate. How does any parent answer such questions? We did so like some sort of robots. I didn’t cry, I answered as if it was the most natural thing in the world. Why? How? I don’t know! I really can’t answer that. There are so many hours in the day where I break down and cannot bear to cope any longer but there are other times when something takes over me and leads me in a very robotic manner.

We cannot plan for the future with Archie like most parents do for their children but we can plan to give him the most loved dignified special ending possible. When Archie tells us he wants to go and sleep with the angels we have planned to make him comfortable and stay by his side until he takes his last breath. We want family and friends to be able to send him off with love. Archie will know he is and will always be loved.
People reading this may wonder how on earth can I write and talk about this so calmly. Some of you may wonder why am I even telling you all. Please trust and believe me that it is not done without complete and utter devastation and emotional and physical heartbreak. I had a nightmare the night after we were faced with these questions. The nightmare involved me losing my child. I woke up as from most nightmare to hopefully be granted with a sigh of relief however I remember I am living this nightmare. There is no waking up from it!

Being a parent to a terminally child leaves you no choice but to cope with what has been dealt to you. It simply comes down to you either cope or you don’t. Myself and my husband have decided to cope. It clearly doesn’t come without its struggles. I have learnt through this journey that there are days when I don’t want to cope anymore , I get days where I don’t want to see anyone and I simply want to cry and hold my hands up and give into the strong image me and my husband so often portray. I have learnt that I am aloud these days and I will have them I just might not show anyone.

Why am I telling you all this then? My reason is I want people to understand life is extremely hard for us and all the other families in the same situation.

We are faced with the most traumatic, heartbreaking questions and situations ever imaginable but we deal with them.

We deal with them with some inner strength you might feel you don’t have. Please don’t tell me you could never do it because the hard bear fact is if it were your child you would.

Why? Because you have to.

Please, please remember that for all that bravery and toughness we portray in front of you the public, behind closed doors our hearts are aching, we are broken, we are still human after all. Be patient and gentle with us as we deal with the situation and questions simply because we have too, not becasue we want to.

Fun in the Forest

Isabella, Deborah, James and Auntie Bev


Recently, four very special ladies from Clippers hairdressers in Thetford put themselves through weeks of training in order to complete a team tri-athalon on behalf of Isabella.
They asked their customers, friends and families to sponsor them so that Isabella could get to enjoy some more happy times and we get to make some more memories with our precious daughter.
They raised a phenomenal amount of money, so much more than we could have ever imagined and we will be eternally grateful to them for all their hard work and efforts.
We chose to spend some of the money on a five day break at our local Centreparcs which is only a few miles from us. Perfect, as Isabella doesn’t travel too well and also our nursing team could access the site if necessary.
We took my special weenie auntie Bev with us which was a great help to James and I as she is very patient and helps in any way she can.
We were blessed with beautiful weather which meant we had loads of time outdoors in the fresh air exploring the vast expanse of forest and lakes.
We took Isabella swimming every day which is one of her most favourite activities and we got to go on the rapids, slides and whirly pools too!
Isabella’s daily routine means that she has to stop for tube feeds, medicines, treatments etc every couple of hours. This meant that we got to visit practically every restaurant and cafe that centreparcs has to offer and we were delighted by the warmth and friendliness of the staff we encountered, letting us get on with our procedures without rushing us or making us feel awkward.
The food was fantastic and it was a good job that we had to walk everywhere or we would be enormous now!
Isabella got to experience ten pin bowling, crazy golf and even went to her first disco! She had a great week and stayed very relaxed the whole time as did I after my afternoon at the spa with auntie Bev!
Janes didn’t miss out, he was happy to put his feet up and catch up on a little well deserved afternoon nap!
We can’t thank Lydia, Sally, Michelle and Sinead enough as they have really achieved what they set out to do. Isabella had a very happy week and we made some fantastic memories.

‘A Special Place’ by Isabella

I have just come back from my holiday to a very special place. It was to an island called Tresco which is one of the Scilly Islands which sit about 20 miles off of the coast of Land’s End, Cornwall.

My Great Aunties Bev, Max and Ade and my Great Uncle Smartie treated me, Mummy and Daddy to a week with them in a place which can only be described as ‘a little piece of paradise’.

The island is only a mile wide by a mile and a half long and there are no cars there. We arrived by helicopter which was very exciting (although I did have a small snooze mid flight!) and we were delivered to our cottage on the back of a tractor and trailer which was a fantastically bouncy ride!

The sea is as aquamarine and the sand is as soft and golden as the Mediterranean and luckily for us the weather matched, it was gloriously hot and sunny!

We stayed in a beautifully bright cottage right on the edge of the beach where we awoke every morning to the sound of Oyster-catchers playing on the sand. I could hear the waves gently lapping on the shore as small boats quietly sailed past.

We spent our days outside, on the beach, paddling in the sea, going for walks around the island breathing in the freshest of air I also got to go swimming nearly every day which I really loved. With the help of my swimming costume with built in floats and a rubber ring, I even swam by myself, I just kept kicking my legs and off I went, giving Auntie Ade a bit of competition!

Mummy and Daddy had a good rest too as everyone else did all the cooking and washing up which they were very thankful for.

We all had a wonderful time and Tresco will always be our very special place. xxx

Isabella ‘treats’ daddy to a show for Fathers Day

Isabella and James

Everyday is so important to us all as a family, but always try to fill our ‘family days’ with fun things that Isabella will enjoy.

Fathers day this year was no different and when we found out ‘In The Night Garden Live’ was being staged not too far from us we jumped at the chance at going.
Now Isabella has never been very interested in television but one program she has always enjoyed is In The Night Garden, not because of the colourful images, instead she loves the music each character sings and dances to. It not unusual for Isabella to stop everything she is doing to do her unique style of dancing when her favourite character – Upsy Daisy – comes on to the screen.
After having a lovely picnic next to showdome  (where the show is staged) in the grounds of Woburn Abbey we went in and were shown to our front row seats by some very helpful and understanding staff.  The stage was set up only a metre from where we sat with the Pinky Ponk being projected above our heads. The first character on stage was Makka Pakka who wanted to wash all his friends’ faces. We then met Iggle Piggle, The Pontipines, The Tombliboos and finally Upsy Daisy. Unfortunately due to Isabella’s poor eyesight she was not focusing on the 6ft tall Upsy Daisy standing only a few metres from us but was constantly looking towards the speaker which was transmitting Upsy Daisy’s voice.
Now Isabella might not have watched the show but her facial expressions told us she enjoyed the music.
We all had a great day and look forward to many more days not about Tay-Sachs.

The Importance of Portage

Isabella and Jenny

Earlier this year, before there was even a hint of a diagnosis, Isabella was referred to the Portage team.  I had never heard of it before, but now it is our most important appointment every week.  So what is it? . . .
Portage is a home visiting educational service for pre-school children with additional needs.  In short, we call it special play time.
Our Portage home visitor is Jenny and she comes once a week during term time and spends at least an hour playing with Isabella.  It is not just any old play though, it is completely specific to Isabella’s skills and focuses on her retaining these skills for as long as possible.  Repetitive play is the key.
When Jenny first came to visit I was completely at a loss when it came to play.  I tried everything that I could think of but Isabella was no longer interested in most of her toys and would not play by herself at all.  The only thing she wanted to do was take bricks out of a box and pass them to me.  I spent day after day trying to encourage her but nothing would work.
Jenny has many years of experience and knew exactly where to start and gave me lots of ideas to start working with.  Our first task was to put together a special play box with around six different activities in.  These include a box of six bricks, musical instruments, glove puppets and objects to represent songs.  Each item is played with in a specific way and encourages different types of play.  The repetition of play means that Isabella anticipates what happens next so for example when the glove puppets come out, she knows to hold their hands as we then sing ‘Ring-A-Ring-A-Roses’.  With the box of bricks, she takes them out one by one and passes them to me, like she was doing before, but then she takes the bricks back again and puts them back in the box.
It might sound like no big deal to most parents but to a parent of a child with Tay-Sachs, this is a big achievement.  Isabella will gradually loose these skills but for the moment as she holds onto them and occasionally gains new ones we can only rejoice.
Portage is always such a positive experience, we focus on what Isabella CAN DO rather than medical appointments that talk about what she can no longer do.  We look forward to Jenny coming to play each week, it keeps me going to face the challenges that we face for the rest of the week and for Isabella it is simply fun.
Thank you Jenny and thank you Portage.
For more information please see Portage’s website.

Family Day

Deborah and Isabella on the Snail

Last week we had what we call a ‘Family Day’ – a day not about Tay-Sachs.

We don’t get many days when the three of us are all together and very often the time we do get is taken up with appointments.  We look forward to our family days as the only thing to be booked in is to do something nice!

On this occasion we went to the seaside – Great Yarmouth to be precise.

Now Great Yarmouth is not everyone’s cup of tea – indeed under any other circumstance James wouldn’t go.  But Yarmouth is for children and I remember getting very excited as a child knowing that we were going on a day trip there.  There is everything a child could wish for including a fantastic place called ‘Joyland’ especially for small people!

We arrived at lunch time so we sat on the sea front, Isabella eating her perfectly healthy lunch and Mummy and Daddy enjoying a naughty treat of chips!

After lunch Isabella experienced her first ever donkey ride – she loved it – laughing and squealing all the way.  James however drew the short straw and had to trudge through the sand whilst holding Isabella on as I stood back and filmed the occasion – I’m not silly!!

Once James had tipped the sand out of his shoes, we headed for ‘Joyland’ and thank heavens, my favourite ride – THE SNAILS – was still there.  Everyone in my family has been on the snails at some point in their lives, brother, cousins, aunties and even Mum when she was little.  I had to take Isabella on . . . once . . . twice . . . three times!  She loved it, just as I had hoped she would.

Another happy memory made and a good day was had by all.

The next family day is scheduled for Father’s Day when we are going to see ‘In The Night Garden’ Live Show!  We will let you know how we get on!

Isabella’s lovely weekend!

Pensthorpe Nature Reserve

By Deborah Alford

“As time goes by we are finding it increasingly difficult to have days that are not about Tay-Sachs. However, we are pleased to report that we enjoyed a fantastic day out at Pensthorpe on Saturday where Isabella enjoyed hearing the ducks and birds and feeling the wind blowing in her hair! We also had a scrumptious picnic! Today was spent at a one year old’s birthday party where we were made to feel very welcome. Isabella loved the bouncy castle! We arrived home to find a box of chocs on our doorstep from some very good friends! We have lots of appointments again this week so back to normal but feels like we have had a little time out.”

Isabella Alford’s Story


Deborah, James and Isabella

A few weeks ago I was put in touch with Deborah Alford, loving mother of beautiful Isabella who will turn two and a half years next month.

Deborah and I shared our daughters’ stories and how both our families came to receive the awful diagnosis of Tay-Sachs. We keep in regular touch, we share our day to day, our feelings and the practicalities of our new lives. Although our hearts break for each other’s family and for our own, it’s comforting to be able to have someone on the other side who truly understands.

Deborah kindly allowed me to share Isabella’s story on our website, here it is on her own words to me:

“I am pleased to say that I had an excellent pregnancy and a birth that was free of any complications.  Isabella was a healthy 8lb 2oz, beautiful and perfectly formed.  I struggled with breast feeding and after a week, Isabella had lost too much weight and I had no choice but to bottle feed.  At three weeks old she developed a strawberry Nevis on her head which grew at an alarming rate so we had to get her checked out at the hospital.  She had a scan of her abdomen to rule out any other growths but all was clear and we were assured that it was not a cause for concern and that it would shrink away as quick as it came.  It has.

Isabella was also ahead of all her milestones.  She was early with the mumum sounds and carried on with the dada and proceeded with several words like Dad, cat, chair, hair etc.  She could point out all her main body parts way ahead of her friends and could identify all her animal flashcards correctly at about six months.  She was also up on her feet at six months, preferring to hold our hands and walk rather than crawling.  Her crawl always struck me as being a little slow.  By ten months she started to take a few steps by herself so we were sure that she would be walking by her first birthday.  At ten months though we did notice that her words had mostly fizzled out.  She would occasionally say the odd word but not as much as before.  We didn’t worry too much about this as my husband didn’t talk until he was three.

At Isabella’s ten month check I raised concerns about her sensitive hearing.  She startled a lot and also got very upset in busy, noisy environments.  We did get a call from the hospital but by the time this happened it had calmed down a lot and although the startle to noise was still an issue, she was no longer as upset by it so I didn’t pursue it.  Isabella had always been a sensitive baby, she cried a lot and was and still is very clingy to me.  When I met up with friends at groups or at each others houses she would never get stuck in and play with them, she refused to get down off my lap.  I admit to feeling a little stifled although I put it down to a shy personality as myself and my husband had also had as children.  Anyway, the walking continued to improve, she could walk by herself across rooms and zoomed around everywhere with her walker.  At 14 months I was puzzled that she still hadn’t let go for good but health visitors told me the usual line that she will do it in her own time.  By 18 months I was concerned and felt we needed some help as Isabella’s feet seemed to be falling inwards.  We were referred to a physio who explained that Isabella is hyper mobile and that all her joints were too lax.  This explained why she wasn’t walking by herself continuously as it usually takes longer with hyper mobility.  They recommended she wear boots to support her ankles. I also realised at this time that Isabella had never stuck her tongue out. A nurse friend of mine suggested she might be tongue tied and I thought this might explain the breast feeding difficulties and the lack of talking.

On October 5th 2010 we took her to see a GP who quite honestly scared us out of our minds.  She felt that Isabella had a whole host of motor and fine motor delays.  She asked if we had Spina Bifida in the family.  She referred us to a paediatrician which took two months, leaving us to come up with all sorts of medical possibilities, most of them scary.  The paediatrician saw straight away that Isabella was having absence seizures which in itself was a lot to take in, we thought she was a day-dreamer.  Isabella then had appointments at  Addenbrookes, Cambridge for two lots of E.E.G’s, neither of which showed any epileptic activity.  She then had a C.T. scan to rule out tumours.  This was clear too.  We were then referred to a neurologist who felt that there was likely to be a more serious problem and that we would need to see an ophthalmologist and have various other tests.  That night I read about Tay-Sachs after hours of internet searching and I knew in my mind that everything fitted.  We saw the ophthalmologist who found the cherry red spot and I knew exactly the kind of disease we were looking at.  Two months after I had read about Tay-Sachs and after a myriad of blood tests we received the diagnosis.  This was March 15th this year.

Since October 2010 Isabella has regressed a lot.  She can still bear weight on her legs and still prefers to be walked around with us supporting her and up the stairs albeit very clumsily.  She can no longer crawl so cannot move around by herself.  Her skills with her hands are very limited but we have portage once a week which has helped enormously in retaining the play skills she still has.  She has a tremendous amount of energy and strength and when sitting or laying she loves to ’dance’ by flinging her arms and legs about or by bouncing on our laps.  She smiles and laughs a lot and responds really well to music and words, anything that sounds funny and rhymes usually does the trick.  Her vision is now very limited but seems to phase in and out, she feels our faces a lot which breaks my heart every time.  Feeding has started to become a bit troublesome in the last couple of weeks and drinking is causing more concern.  We are trying our best to combat this by adjusting routines and techniques.
We are lucky to have a very good team of health care professionals around us who we feel are doing all they can to help.  We must have every type of worker available!
Isabella is our one and only child.  She is our world.”

Welcome to Holland

I have just been contacted by yet another wonderful mother who, having a son in special circumstances herself, decided to reach out to me to show me her support and has shared this poem with me which I think is beautiful and will for sure stay with me. I thought that others might take the same inspiration from it as Katy has been taking and this is why she thought it would be meaningful to me too!

Thank you Katy!


Welcome To Holland

by Emily Perl Kingsley
I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this……
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Colosseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, ”Welcome to Holland.”
”Holland?!?” you say. ”What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say ”Yes, that’s where I was supposed to go. That’s what I had planned.”

And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very very significant loss.
But… if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland.
©1987 by Emily Perl Kingsley. All rights reserved.