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!
Tay-Sachs, as mentioned before, is part of the Lysosomal Storage Diseases, most of these are progressive, fatal and devastating. There are over 70 Lysosomal Storage Diseases and so the word ‘RARE’ starts to wear thin when we couple them all together.
Since starting this website I have learnt a lot, I suppose this is part of our journey now, to have a certain expertise on LSDs – I have learnt that rarity only means anything when it doesn’t affect you, once it does, it’s no longer rare, it’s reality!
I have been contacted by several parents who are going through the same as we are, some that have already completed the journey that we dread so much. A lot of these parents have children affected by Sandhoff Disease. Below is the rundown of what Sandhoff Disease is, and it is easy to understand why I call it Tay-Sachs’ other evil twin.
Sandhoff Disease is named after Konrad Sandhoff, a German chemist, who first described the disease in 1968. Sandhoff, is a progressive neurological autosomal recessive genetic disorder that appears in three forms: Classic Infantile, Juvenile and Late Onset or Chronic Sandhoff.
The fatty material (GM2 Gangliosides) which accumulates in the child’s brain cells is the same in Sandhoff and Tay-Sachs diseases. However, the enzyme deficiency in Sandhoff Disease arises from mutations in a different gene on a different chromosome: the beta (ß subunit of the hexosaminidase A enzyme (Hex-A) gene on chromosome 5 rather than the alpha (a subunit of the Hex-A gene on chromosome 15 for Tay-Sachs. Since both the alpha and the beta subunits are needed for the Hex-A function, children with Sandhoff are also deficient in Hex-A activity. However the B subunit is also essential for the functioning of another kind of hexosaminidase called Hex-B. As a result, children with Sandhoff disease lack normal levels of both Hex-A and Hex-B while those with Tay-Sachs still have Hex-B activity.
As with Tay-Sachs disease the severity of Sandhoff disease depends on the amount of residual enzyme that is produced. Children with virtually no hexosaminidase activity will have the infantile (acute onset) form of the disease. Those born with a small amount of hexosaminidase activity will have the juvenile, subacute form and those with still more activity will have a later onset adult (chronic) form of Sandhoff disease. The infantile form is the most severe and, unfortunately, the most common. The juvenile and adult forms of Sandhoff disease occur later and tend to be much more variable in their clinical features. The amount of residual enzyme, and therefore the clinical course, is determined by the specific mutation(s) in the ß-subunit of Hex-A.
Sandhoff disease, like Tay-Sachs, is an autosomal recessive disorder but, unlike Tay-Sachs, occurs more commonly in the non-Jewish population. In fact, given the higher incidence of Sandhoff in non-Jews and the clinical similarity of the two diseases, it is probable that some of the non-Jewish children diagnosed before the availability of the laboratory tests actually had Sandhoff disease.
Symptoms and progression of the disease occurs just as with Tay-Sachs and a cure would benefit all of those affected by both diseases.
1 – Offer concrete help/ Don’t wait to be asked: Childcare, routine household tasks, and even trips to the supermarket can exhaust our energy. When you are out running to the grocery store, dry cleaners or corner shop ask if the parents need anything picked up or if there are any other errands you could do while you are already out. Be a cook, baker or buy a nourishing and healthy treat.
2 – Offer to babysit on occasion: Parents go to great lengths to enjoy ordinary pleasures. Going out for an evening with their spouse, or taking time for themselves is rare. Something most people take for granted. If you are comfortable with the child offer to babysit. Offer to care for their other children if the ill child has to go to the doctor or hospital. When the parents are sick themselves or have had a especially difficult time caring for their sick child offer to come over and help distract the other children.
3 – Learn about the disease: All people close to the parents, especially family, have their own need for information. If parents don’t have the information seek it yourself and find it here and any of the websites on our links listing at the bottom. By becoming knowledgeable you will increase your comfort level in caring for the child when you babysit or even just visit.
4 – Seek support for your own emotional needs: To be a support to the parents, you may want to turn to other for help with your own grief. Covey your sadness but limit your dependance on the parents, who have limited emotional reserves and must focus on supporting themselves and their children’s grief. Grandparents, in particular, may find it helpful to talk to other grandparents of affected children. NTSAD has a Grandparent Support Group and it will be able to place you in contact with others.
5 - Provide companionship: It is easy for parents to feel isolated and alone, and too tired to reach out. Offer to come along to a doctor’s appointment. Make a weakly breakfast date, ask to drop in with coffee and pastry, offer to take a walk, or call on the phone. If you are family or a close friend from out of town ask if the family can manage a visit. You may want to arrange to stay in a hotel. If you stay in the home suggest meals are “take-ways’ or offer to cook. Lend a hand by washing your sheets and towels before leaving. Try to minimize adding any extra burden on the family. Make every effort to visit. This family needs to know you care and you do not want to miss visiting and getting to know this special child.
6 – Organize family get-togethers: Offer invitations to the whole family to visit your home. The simple mechanics of feeding, transporting, and caring rule out may activities many families take for granted, such as going to watch a football game or even to a shopping centre. Being invited to someone’s home maybe the only type of activity a whole family can do together.
7 – Invite siblings to participate in your family outgoing: Siblings of children with serious illnesses often miss out on fun. Parent worry about these missed opportunities and often feel guilty about it. Offers by family and friends to entertain siblings are valuable to both the children and the parents.
8 – Make efforts to help parents stay in their life: Even when consumed with the challenges of caring for an ill child, parents have and need careers, hobbies, interests and other relationships. Show interest on all facets of parents’ lives. Also, be willing to share what is going on in your life, even the hardships. Maintain reciprocity in your friendship with parents, as this is important to both you and them.
9 – Be yourself: If you don’t know what to say, be honest. If you are uncomfortable handling a child who is weak or stiff or has a feeding tube, let parents know. There are many other things you can offer. Use your strengths to help.
10 – Listen first: Parents of children with serious illnesses have a lot to say. Feelings expressed are not right or wrong, they simply are. Many times expressions of anxiety or frustration are NOT requests for advice. Wait to find out.
11 – Present suggestions as suggestions: Advice giving can easily get in the way of support. Serve as a resource to families but never say ‘You should…’.
12 – Relate to the child: Acknowledge children, even if they can’t talk or respond in obvious ways. A gentle touch, a kiss on the forehead, or a few sweet words are special gifts. Do not focus solely on the disabilities. Ask the parents what the child would like. Perhaps the child could benefit from hearing a story or a song, or placing the child’s hand on a soft stuffed animal. Not only will the child enjoy the attention, but the parents will appreciate their child being treated with such loving attention.
The article above was kindly provided by National Tay-Sachs and Allied Diseases (NTSAD) for more information please visit NTSAD’s website.
Carrier testing is currently available through the NHS at Guy’s and St Thomas’ in London.
For further information please click here.
Please note that this page offers information on how to get genetic testing on your carrier status of Tay-Sachs and mentions quite specifically people of Ashkenazi Jew descent as being the major group affected by the disease.
While the numbers may say so, numbers mean nothing when you are THE ONE in 250 people of non Ashkenazi Jew descent that is a carrier and passed it on to your child – such as myself.
It is also important to keep in mind that the current world is a lot more mixed and travelled and that ancestry information is not always passed on correctly and unfortunately information on carrier status may also be forgotten somewhere down the line until the disease strikes again in the family.
Please read the information carefully and pass it on to friends and family. Genetic diseases can be avoided with a simple blood test and if carriers always inform their close and extended family tragedy can be avoided.
On researching further on Tay-Sachs today and trying to find what other communities and articles are out there I came across a very interesting article online entitled ‘How a community stamped out Tay-Sachs disease with genetic screening’ by science editor, Mark Henderson for the Sunday Times.
You can read the article here (Times subscription needed).
It’s a myth that Tay-Sachs is exclusive to certain communities at present and this article also shows clearly how by raising awareness and offering screening the Ashkenazi Jewish community was able to reduce the number of children born with this terrible condition.
Unfortunately Tay-Sachs could be carried by anyone from anywhere and what the article clearly demonstrates is that more and more children are being born with Tay-Sachs to parents from all different backgrounds.
The reality is that Daniel is partially Ashkenazi Jew but having not have had any history on his family, neither him or his family were aware of being carriers of Tay-Sachs. And living proof of the statement above is our daughter, as I am portuguese and the gene I carry is so rare that had only been recorded once. We were told that had Daniel known he was a carrier and had I been tested for it, the screening wouldn’t have had included my gene therefore we would have not been alerted to the risk of conceiving children with Tay-Sachs.
Numerous organizations are now alerting people for genetic screening should there be history of certain diseases in the family or should they know that they are from a group at risk, my view is that although you cannot go into paranoia if there is any chance that there may be a risk of a child being born with such a terrible fate then screening should be made available and mostly it should be made known to future parents.
Most importantly information on carriers should not be lost within families and it important that those that know to be carriers alert their extended families to the fact so that all can be tested and eventually Tay-Sachs will be eradicated.
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.