My dearest (I think she wouldn’t mind me calling her friend) Deborah has just posted the following on Facebook:
‘I am thinking of making Isabella a badge to wear, it would say the following:
“My name is Isabella. I am 4. Past 4 and 1/4 and heading for 4 and 1/2. I can hear you. I can understand you. I just cannot talk to you. So please do not talk to me like I am a baby!!!
And I understand exactly how she feels. To be honest I have always found baby talk irritating anyway and it usually results in kids with a winy voice… but I shall not pass judgement for this is exactly what I’m trying to ‘raise awareness for’…
Instead of going around it the usual way, and explain what Isabella has and how she is a little girl who suffers from a horrible disease I’m going to try to bring it closer to home in a really easy way.
You, who are reading this, able bodied and hopefully healthy, try to imagine for a full 5 minutes not to be able to talk, or walk, or see clearly. So close your eyes if you must, start by asking someone to talk to you as if you are a newborn, remember you can’t express yourself via language or movement, let them go on for a bit, take it seriously, please.
Do you feel like an idiot yet? Is it nice? Would you rather this person wasn’t talking to you? If this was life, if you suffered an accident or had a terrible disease that lead you to such disabilities would this be the way you would like to be treated? No, I am certain no one would! I’m certain you would, if this exercise lasted long enough, break your silence and tell this person to ‘shut up’! But Isabella can’t, so she won’t and if she could she would probably be too polite to do it because she is lovely too!
No one chooses to be ill, to have disabilities, to be unable, but it’s everyone else’s choice to treat people with respect. I can assure you that Isabella and those who suffer from disabilities and limiting illnesses will never be disrespectful to you, that if they could talk what goes on their mind you would be astonished at their wisdom and their beautiful words, because they see the world differently, they don’t have malice, prejudice or any pre made judgements.
Next time you come across Isabella, or my daughter Amelie or another child or adult with special needs treat them with the attention and respect they deserve, touch their hand, stroke their head, read them a book, if you are unsure how to act just ask their carer, ask what is acceptable, if they can hear, see, what they like and don’t like, just as you would with any other child. Failing to do so you may risk them thinking that you are an idiot…
You also wouldn’t want to make a parent feel the way my friend Deborah and I many times have, would you? It’s a lot worse than people staring at your child having a tantrum. Our children are special they are not stupid!
I am going to take a risk and speak on everyone’s behalf here – Isabella, Amelie and the other children with special needs and their parents appreciate everyone that makes the effort and who shares this message.
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.
There were many moments throughout the Olympics that made me get a lump on my throat – Jessica Ennis getting her gold medal, all the unexpected medals and the sense of achievement and pride of the athletes, at the opening ceremony when the olympic medalists waived their right to carry the torch on behalf of young athletes and let them carry it instead, Tom Daley fighting for a medal as if life itself depended on it after going through such a traumatic year with the loss of his father, the advert for the paralympics – the Superhumans – those who have limitations and challenges beyond belief and that push themselves to the limit and make a point of living life to the full!
All of these people make up for those that always make me wonder – ‘How did he/she make it into adulthood? Is it for the divine purpose of hurting others?’ I am talking about the Breiviks, Ghadafis and every other tyrant in the world.
Today I looked across to Amelie, sitting on her special blue chair (an attempt to keep her cool as she doesn’t deal well with hot weather) and I have realised that at 33 months and despite all her limitations, set backs and challenges, she has achieved and accomplished more than many people in a lifetime!
Amelie is not able to walk or run but she has inspired her father and close friends and family to run marathons to total more km than many will ever run throughout their entire lives! And now because of her hundreds of people have signed up to take upon themselves to run 10k everyday, in her honour and in honour of other children that like her, Archie, Isabella and Luca cannot run – The CATS 10k Challenge, 13 in 13.
We have never even contemplated that one day Amelie could reach any mountain tops, but she has! – ‘Another mountain another thought for Amelie’
I certainly never expected her to be a good cyclist as she wouldn’t be getting that skill from any of us… but cycling she has inspired, 600 miles in 6 days and climbing over some of the toughest mountains in France! – Ride2Recovery2
And at her young age golf would definitely be a challenge regardless of the circumstances… – Charity Golf Day
But Amelie has achieved, inspired and accomplished a lot more than just the above.
She cannot talk or read and yet it was her determination to hang on to her abilities until they were no longer possible that took me and Daniel to sit through hours, days and weeks of research and paperwork in order to establish The CATS Foundation. We know that Amelie’s kind nature meant that she would want a treatment to be found for other children in the future, that she would want to help other families and children in the same situation as us, that if she could talk and read and grow into an adult this would be her goal. And so we are her eyes and voice and made it happen.
And through this whole process we made friends, friends that we would have never met otherwise, people that are also Superhuman in their own way, for they too dedicate their lives to something a lot bigger than the ordinary:
- we have met Ken and Julie Bihn, an extraordinary couple who set up the Cure Tay-Sachs Foundation in the US, they were our first contact in our ‘new world’, having set up the foundation in 2007 they have tirelessly and relentlessly raised money and awareness for Tay-Sachs ever since, their work in honour of their 12 years old daughter Dakota has allowed for research to develop to stages that were never thought of 10 years ago. We took a lot of inspiration from their work to start The CATS Foundation.
- through Ken we were introduced to Professor Timothy Cox at Cambridge, another outstanding human being who has dedicated his career (and probably most of his leisure time) to the study and research of treatments for lysosomal storage diseases affecting the brain, diseases like Tay-Sachs and Sandhoff. Professor Cox, or Tim as he insists we call him, has not only astonished us with his perseverance and passion for his work but also for his compassion, patience and understanding towards the children and families affected. He has been involved in the charity since birth and keeps us updated with the current research progress and any information we need.
- Julia Ogilvy was mentioned to me by Professor Cox as a guest at our first meeting. I didn’t know who Julia was and I couldn’t quite understand why would she be attending a meeting about Tay-Sachs, until I researched and found that Julia’s life had changed dramatically since two of her very close friends’ children were affected by the disease. In fact I should rephrase that – Julia took the decision to change her life dramatically! I felt I knew Julia before I met her, through her book ‘Turning Points’ I got to understand what a remarkable woman she is and how others have turned very serious and difficult situations in their lives into something greater than most would have done in the best of situations. I must confess that reading Julia’s book at that particular time was all the therapy I needed…
Perhaps it is true that good people attract good people, for that is certainly what Amelie has done!
Of course I would prefer not to have met any of the people above, nor to have extensive knowledge of Tay-Sachs, or to have started a charity, my first preference would always be to have an healthy child, but that is not the reality.
Lastly I know that we have a little Superhuman as we watch the immense effort and concentration that she has to put on to hold her little sister’s hand, but she still does it every time they are next to each other!
It has been a very long time since I have sat down to write on Today Was Not About Tay-Sachs, it’s not that these past months have all been about it but it certainly becomes more and more difficult to get away from it.
I don’t tend towards negativity or depression, this is not how I see life, it’s not how I was raised, I believe that life is what it is and that it’s up to us to make it work.
One of the hardships of being a parent of a terminally ill and disabled child is that we suddenly live in a bubble, not by choice, purely by default. Our children are different and so we have to be different too, it’s not a choice it’s a necessity. But there are choices that we consciously need to make and that most don’t have to, they think they do but usually just live in oblivion and limbo.
At some point, in the life of the parents of a child like Amelie (regardless of the specific condition) comes the time to decide how to deal with the situation and there are only two options – to be or not to be happy! Not with the situation or that our daughter has a disease, to be happy in general, to be a happy family or not. Most would say you can’t – a fair assumption. But would we have chosen to be unhappy and have Amelie suffering from a terrible disease and have a dreadful unhappy life on top of it? No, we wouldn’t because Amelie is our child, we love her, and ultimately this is happening to her. When we made the decision to be Amelie’s parents we took onto ourselves to look after her, love her, care for her, we didn’t know Amelie had TS, but Amelie didn’t either and did not ask to come to the world and so we love her just as we would if we had a perfectly healthy child.
Dealing with life outside the ‘bubble’ is increasingly hard, I would say in proportion to how different our own situation becomes. It has been a while now that I look at life outside of our bubble and become shocked and upset about the lack of perspective of those living on that side and more recently I have had parents in the same situation commenting on the same fact – why do parents of healthy children don’t value their time with them? Why do they complain openly and so much? Why do some make parenthood sound like a nightmare and battle that they had no idea they were getting themselves into?
I have many times seriously considered closing my FB account purely due to parents’ accounts of their days with their children. I ask myself – ‘Have you never seen or dealt with a child before you decided to have your own?’ – How can they go on and on (usually on a daily to weekly basis) about how tired and exhausted they are and how they need a break, and oh, let’s not even go into the ‘dreadful’ summer holidays… how dare they allow the children to have 6 weeks off school to play and enjoy themselves and spend time with their parents? Has anyone ever seen a boarding nursery where you can ship them off as soon as they start talking/walking? I haven’t! So what is going on here? Why do people decide to have children and then spend their lives moaning about them and seem to just be desperate to reach the end of the day (the kids bedtime)? Is this what being a parent and enjoying your children means? No, it’s not!
I have carefully judged this ‘phenomenon’ from two perspectives – the one from my own upbringing (a healthy child) and the one from parents like us and those we meet at our hospital stays.
I have never heard my mother moaning about a day with us, she was always attentive, she always got her own work done and played with us, paid us the attention we needed and educated us accordingly. Perhaps my mother was not neurotic about having a little child with her because she knew that children need love, care, attention and that it was her choice to have us, not the other way around. My earliest childhood memories are of my mother teaching me how to colour on the kitchen table while she was making dinner or doing the ironing, it doesn’t really matter what she was doing because what I can remember was that she was paying attention to me without indulging me. I remember she always spoke to us a lot (as she does!), I had a little black board where I was taught how to write and count before I went to school. She would take me out and involve me in her shopping and take me for an afternoon snack. And when dad came home we all sat down at the dinner table and had a lovely meal and spoke about our days – we were not pulling our hair or screaming or overtired, we were looked after with pleasure and so we were pleasant and happy children! So what is my mother’s (and others like her) secret? Is it perhaps that Facebook didn’t exist at the time and so she didn’t have to set aside the time to go and update it with what she did that day? No, I don’t think so. She chose to have children and to be happy, very simple! And so she made it work for her and for us.
And then we have the parents that have it a bit more complicated… we have John’s mum for example who was staying at a bay across from us at hospital. John is two years old, one of twins, they are four children in total. John had a stroke (yes at the age of 2!) and he had been in hospital for over 3 months! John’s mum stays with him all day, everyday! She comes in after she takes the other children to school and while her husband goes to work. She places him on his special chair (I will spare the photo of this particular equipment), she feeds him via his tube and little spoonfuls of cereal to try to get him back into eating orally, she baths him, changes him, sees and speaks to the registrars, sees and speaks to the specialists, she takes him to see the play specialist, she takes him to physiotherapy and occupational therapy, she feeds him through the tube several times in between, she plays with him, she allows him to watch a little bit of TV while he has dinner, the other kids and the father come over to visit at 6pm, they all eat NHS food, they give a cuddle to John and sit around his bed, the kids and dad go home, mum stays and puts John to bed, she pulls the tiny bed out and goes to sleep again in what it is a very uncomfortable bed, by now managing to ignore all the beeps and noises that go on the ward as she is tired and has been there for over three months… all day, everyday! John’s mum has never once complained to me about John and all the work she has with him, she certainly does not have time to go and moan on facebook, she hardly has time to see her other children or to eat or have a proper shower. And yet she always has a truthful smile to him, full of love and hope, despite not knowing how John’s condition will improve and not knowing when they will leave hospital. This is just one example! The ward at Evelina Children’s Hospital in London is always full, children of all ages, from newborns to teenagers, children with brain tumours, who had strokes, children who have very rare diseases and severe disabilities, children who are still being assessed but we know by now that if they are on that ward the news will not be the best, terminally ill children, children like John and Amelie! And the parents? Yes they are there with them, all day, everyday just like John’s mum, no bedtime ritual with books, no wine on the sofa to unwind, no facebook to vent!
These are the routines, the lives, the bubble of parents like us and I am only mentioning what we have to do, not what we cannot do due to our children’s limitations. But given the choice I would prefer to be running after a 2 year old rather than to be carrying her and placing her in a chair like John’s, or to be taking her to the park and seeing her climb up a tree instead of going around with her in the pram hoping that she is enjoying the wind on her face, or even giving her a time out for being naughty instead of pulling out the suction machine to make sure that she does not get another lung infection that will lead us to another hospital visit.
I have now come in contact with many parents who have children with severe conditions, some with Tay-Sachs, some with others, they all seem to have chosen happiness, to love and care for their children and give them the best time possible so perhaps we are not the ones who live in a bubble… the bottom line is that nobody is born with a ‘health warranty’ and all it takes is a quick walk down a children’s hospital ward to understand this, children are the best in the world and they deserve to have happiness as the only choice!
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
When I thought of starting Today Was Not About Tay-Sachs, I was thinking of the days when the disease did not rule our day but mostly when it did not rule Amélie’s day, it was the fact that she was enjoying it and living it to the best of her capacities and this is what I thought it was important to share!
But I would like to say, for our sake as Amélie’s parents, and other parents in the same situation that for us, there is no time off and Tay-Sachs is never old news, in fact time is in reverse, we have to live life in a very different way and this is not easy.
The day I was told my daughter had Tay-Sachs I died – the person I was, the life I had, the future I envisaged, it all died… but it is not as easy as turning off a button, moving countries or changing names. Amélie needs us and we need each other, so we are still here, we look the same (probably slightly thinner and more tired), we live in the same place, do our day-to-day as much as we used to, but inside I am not the same person and there is no turning back from it.
I would like to think that in someway it has made me a better person, perhaps because I am now involved in trying to help others and doing something worthwhile, but this also makes me think that we should all aim for this regardless and it should not take such situation for someone to do so. Of course given the choice I would rather not think that it is making me a better person, I would rather have a healthy daughter and get on with life being oblivious.
I have read so many blogs, websites and stories of other parents in the same situation and how they deal with their feelings, with their life… some are angry, some are resigned, some are grateful that God is making their child an angel… there is no right or wrong way to deal with this and whatever the way is it needs to be understood by those around the parents.
Make no mistake, no one goes through it as us parents do. Yes, the situation is lived and felt by family members and by close friends but it is different! And it is important that those around acknowledge it, understand it and act sensibly.
We have to deal with the fact that our daughter is regressing everyday, we know what is ahead of us, we cringe inside every time we take her for an appointment (and we have many!) because we don’t want to hear that she has got worse, we watch her every movement to make sure that it is still there, that she is still able to do it, we test her eyes everyday, we have to put elasticated belts around her waist to help her maintain her posture, we need to pay special attention to her drinking and eating and have our fingers crossed that she will do as well as she did on her last meal, we can’t keep her away from germs and lower her immunity but we need to avoid her getting colds and infections as this increases the risk of major regression. We live in constant state of fear and apprehension, not a choice any one would make.
Those around us don’t live this, they feel for us and for our daughter and they try to support us. The best support anyone can give to parents like us is to try to understand, to embrace how we parents are choosing to deal with this awful situation and take it on their stride.
‘They may resent other children…‘ – we are parents, and like any parent we enjoy children, we think they are cute, they are funny and they make the world a better place. Other children existing does not make our child any better or worse, to think that we would think otherwise is a mistake. We don’t resent other children!
‘We won’t be able to relate fully to children of the same age‘ – as regression kicks in, our children start falling behind so we won’t be fully aware of the milestones that other children the same age are now reaching. Don’t be awkward about it, we are normal and we like to be treated so. Of course constantly mentioning how a child the same age may now be proficient in another two languages and is just the brightest of the crop may be pushing it, but children are themselves and should be celebrated however they are.
‘They are fine!‘ – we are not! And until (and if) we are told that our child has a chance we will never be. Parents that laugh and have a normal conversation are not necessarily suffering any less than those who are more able to show their feelings in public. Culture, upbringing and personality makes us all quite different in dealing with all kinds of situations in life and this is no different. Ask! Ask if your friend or family member is ok, ask if they need anything, if they would like to talk, to go for a walk, to have a drink.
‘I don’t know what to say…‘ – we don’t either! No one does! So you can say just that. The most important thing is that we know that you are there for us and our child. To ignore it is to show no compassion and no real concern for either of us. Now days there are so many ways to avoid direct communication, if you are worried you are interfering or that the parents may need space, send a message, an email, a text or even write a card or a nice letter, everyone likes to feel that they are loved and thought of, and mostly all parents like to think that their children are too. You may not get a reply straight away but you will do at the right time.
‘I have problems too…‘ – we all do. And we also did before our daughter was diagnosed with Tay-Sachs. It is part of human nature to create problems if one is not there at hand. However use your sensibility and common sense, do talk about your problems and concerns but do be aware not to make them over inflated and give the impression that your problems are bigger than ours – our perspective on ‘problems’ has changed massively and we will not be able to understand it as we used to – we will instead start to think that you are insensitive and self-centered. Do not concentrate on us only, but do sympathise with our situation.
Mostly it is important that we feel we are being respected. That those around us that really matter are making an effort to understand what we are going through, the changes that have occurred in our lives and how we have changed. To be brutally honest we do not really care about most mundane things, our approach to life becomes so down to earth, so close to nature that we do not have the energy or the emotional resources to be required to deal with anymore than we are already dealing with.
So if you are close to a parent of a child that is ill (not just those with Tay-Sachs) be honest, try to understand, respect them and be there for them.
Coming back to being a better person, we can all be a better person at any time. We receive and send endless chain emails, we look at awful documentaries on tv, we pass by terrible situations every day. We make a mental note that we would like to help, we get home, have a cup of tea or coffee, put our feet up and forget about it… Hospitals are packed with children with many different conditions, some may be helped immediately, some just need organ or bone marrow transplants, their lives depend on it, theirs and their parents’ suffering could end the moment more of us decide to put the cup of coffee or tea down and do something about it!
So please put your cup down, think of how you can help someone and better yourself!
Amélie Durão Lewi was born on the 2nd of November 2009. After an uneventful and quite easy pregnancy, Amélie made us wait for another ten days after her due date, but arrived safely and screaming healthily at 10.17pm.
We were quite relaxed since the first moment, our baby was healthy, feeding well and good natured.
We took Amélie travelling at 6 weeks to visit her grandparents, uncles and aunts and cousins in Portugal. Like her mum, Amélie is an excellent plane traveller, she just sleeps!
We attended lots of activities while Amélie was a baby – baby sensory, music, baby massage, swimming and she was always happy, attentive and going at the pace of her little friends, many of them slightly older than her.
We noticed from the beginning that Amélie did not like sudden loud voices, and seemed to be more inclined to certain people than others. But overall she was happy, determined, energetic and reached all her milestones quite ahead of time.
By February 2011, at 15 months, we started noticing that while walking with her walker Amélie turned her left foot slightly in and we started to get concerned that she had a slight problem with her foot that might have been stopping her from walking independently. This coupled with the fact that she was always an incredibly measured child in the sense that she always descended from standing into sitting really carefully, she learnt how to turn her bottom out and descend slowly from the sofa, never once did she really bash herself badly as it usually happens at this age. So we went to ask for advice from the GP who at the time was not very concerned either and had referred her to a specialist… sadly events turned quite quickly after this…
In March 2011, Amélie caught quite a bad cold and cough and while she was ill we noticed that she was very lethargic, she stopped standing up or cruising, stopped babbling and hardly crawled. For the first few days we put it down to her simply being sick, I had been sick a few weeks earlier and could hardly get out of bed, but we got concerned when we picked her up to stand that she was unable to sustain any weight on her legs and started crying when she tried. Still thinking that the worst would be diabetes, as this is a sign on little ones and there is a case in the family, we booked an appointment to see the GP the next day.
Since then events unfolded so quickly that we are still going through them in our minds. The GP got really worried once we told him that Amélie was simply not behaving like our child and out of tiredness she was bending herself backwards in our laps (what looked like vacant moments), we were then sent straight to Lewisham A&E with a letter from the GP stating his concerns and once testing was done at Lewisham to rule out other conditions, we were transfered to Evelina Childrens Hospital (part of Guys and St Thomas’s Trust).
We spent 4 nights at Evelina. Amélie went through some grueling testing – loads of blood tests, MRI scan, EEG, ophthalmologic testing and finally a skin biopsy.
As she started to get better from her cold on the first few nights and started to crawl a bit more and trying to pull to stand on the hospital cot we thought at some stage that maybe we had blown it out of proportion and that it would be something quite simple. I wish we had been right… by the 3rd night, after the ophthalmologic test Amélie was found to have cherry-red spot, the indication to metabolic conditions. We were not in any way prepared for this diagnosis, we had no idea what metabolic conditions were, and we were certainly not aware to be carriers of any genes that together could be so terrible to our child.
So we came home knowing that our daughter had a terrible disease, one between many of the lysosomal storage diseases, and we kept on saying to ourselves that it would be ok, that it would be the mildest one possible, but we also kept on reading on the internet about all of them. I knew Amélie did not fit Tay-Sachs description in terms of the Classic Infantile form as she had hit all the milestones up to the moment she had a regression, and she was too young to suffer from Juvenile onset, however the description of startles to loud noises clicked with me, our daughter startles badly to loud noises and this did not leave my mind until the diagnosis day.
We were told Amélie suffered from Tay-Sachs two weeks after we had first taken her to hospital, hers was not a Classic Infantile neither the Juvenile Onset form, she is somewhere in between so her doctors are not fully sure of how quick or slow her regression will be, and how long she has to live. And this is the question that no parent should ever have to ask, but we had to…
Since then we have gone through the worst days of our lives, nothing can prepare you for a diagnosis like this and only those in the same position truly understand.
We wake up everyday and praise our baby for still being able to do the things she did the day before, we know that other parents are teaching their children new words, how to go up and down stairs, and the colours… we wish we could do that too. For us is just enough if she does not get any worse.
Amélie cannot stand or cruise any more and finds it increasingly straining to crawl and only does so very slowly and with a lot of effort, she lost the words she used to say but babbles a lot, smiles a lot and laughs a lot. She loves to be taken on walks, to be cuddled, to play with books and to watch CBeebies. Overall she is happy and this is what keeps us going.
We know the road ahead of us is too awful and we try not to look too ahead. We are enjoying our child the most we can and love her more than could ever be put into words but most importantly we make sure that she is enjoying herself and living life the best she can, with a lot of love, support and fun!
We hope that one day we can write an update that all has been changed, that Amélie and all the children in the world suffering the same and similar conditions can be cured and that Tay-Sachs and Lysosomal Storage Diseases become a serious diagnosis that can be treated.