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.
Today was not about Tay-Sachs was born out of a simple thought… We were driving back home one evening after a nice day out to visit Amélie’s grandparents when it occured to me that it had not been about Tay-Sachs. We had been a family like any other who sat for lunch and dinner, went for a stroll, played with our daughter, took her for a swim in the pool and allowed her to watch CBeebies before going to bed.
I then started thinking that since Amélie’s diagnose a few days had been like that, although our daughter suffers from this awful condition and we had to change our lives and adapt a lot as she has too, we have had days where we were just as happy and positive as any other family, but mostly these were days when we did not allow the disease to take over our lives – these were the days that have felt the best!
So I discussed with Daniel that I wanted to start a website where families who are unfortunately going through the same could share, inspire and feel a little bit positive whilst forging relationships and getting support from others that truly understand what they are going through.
Today was not about Tay-Sachs was created very quickly thanks to our great friend Steve who has stopped at nothing to get it done and looking as great as it does.
We will be updating this website as much as we can with our experiences, with acquired knowledge, with facts on the disease and research and with fundraising activities in order to find a cure for Tay-Sachs and its allied diseases.
So friends and family please contribute with your words and stories. Awareness is a big part of our fight and could prevent other people from going through the same.