Melanie is in the fourth month pregnant when her first child dies. Son Ben suffered from Tay-Sachs syndrome. The diagnostic received by the family two days after his first birthday. Melanie talks about how she has a hard time between joy and sorrow through confession.
My son Ben has developed to the beginning of the completely normal. Until the eighth month around not occurred to me that it reached certain milestones. He could turn away, but couldn’t sit still or crawl. At the beginning no one, however, it was still a great concern.
The feeling to be able to do anything about it
In a eye doctor’s appointment, a change was then on the retina. A blood test revealed shortly after, the cruel truth: Ben had Tay-Sachs, a neurodegenerative disease. This is the diagnosis we received two days after his first birthday. A Gene-Defect of a enzyme or too little is formed, which is responsible for ensuring that waste products are broken down in the brain. This is not to be reduced, when the cells die, piece by piece. There is no medication that could prevent it.
Our son should unlearn everything he had learned so far – at some point he would be able to swallow once more, maybe even deaf and blind. It was said that he would get epileptic seizures and can no longer move. On average, the children with the infantile Form of my son, only two to three years old.
We were destroyed after this diagnosis on the ground. Of course, the fear of what would happen to us, and whether we would manage it was there. But the feeling to be able to do anything about it, was even worse.
A second child should not feel like a replacement
It took a while until we have admitted the thought of a second child at all. We didn’t want the case, that a second child might feel at some point as a replacement.
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In the meantime, the research on the area, but so far, that we had hoped that Ben could make it. So we decided not to get the second child, as long as we know how it turns out with Ben. We have a choice, so regardless of the fate of our first son for a second child, and it felt right.
It’s just the way of the pre-implantation genetic diagnosis remained
In the case of Tay-Sachs is a genetic disease that is inherited as a recessive trait. That means that I have a mutated Gene, and my husband also, and only if, the child gets both mutated genes, it is also affected. The probability is every Time at 25 percent.
In the case of preimplantation diagnosis the eggs are fertilized by means of artificial fertilization up to the blastocyst further develops. Then tissue samples are taken and examined. So you know in advance that the child is healthy, before you get it used, and it can lead to a pregnancy.
The Alternative would have been to be pregnant, to do an amniocentesis and then if given to a crash. I couldn’t have done that. Because a sick child would still have been a child like Ben. And Ben was just great.
I had great fear that something will go wrong
In the first month of my pregnancy, I had great fear that something will go wrong, because always something can happen. This fear I had in the first pregnancy. Since I had always this “us something like that already”-feeling. But the probability of my son to Tay-Sachs, was also at 320.000 to 1.
If such an unlikely event occurs, it leaves a feeling that the bad things will not happen to a self.
Ben was even able to say Mama
Ben died very suddenly and unexpectedly, when I was in the fourth month of pregnancy. This may sound like a sick child weird. But also in the case of rare diseases such as Tay-Sachs, there are typical forms, and Ben was still very fit. He could still move reasonably, and articulate, and was even able to say Mama, although many children with Tay-Sachs can never.
Ben already had a stomach tube, but was able to eat small amounts of normal, he needed neither oxygen, nor had the saliva to be extracted. Also the epileptic seizures we had somewhat a handle on – that’s what we thought. Because Ben died of a eplieptischen attack, on a normal Sunday morning.
In April, Leo came to the world
After Ben’s death, nothing was the same, it was a very difficult time. The pregnancy ran only on the side. I just wanted my son. I had big problems, me on the new child, emotionally. It was the head that told me that I should not give up, had to eat, drink and so on, because I had also responsibility for the Unborn.
Yes, the whole pregnancy over this fear accompanied me, whether I could love my second child – a Boy – ever, just like Ben. The birth was also very tiring, we had to get him on once quickly, because I had developed a cholestasis. It was late in the evening, the anesthetic had spread too far, because I needed a Moment to me to accept that, that he was there now. But the next Morning we arrived and I felt the same love for him as I feel for Ben.
Leo will replace Ben never – but that he should not
Ben is every day present. We compare our boys, as you would do with healthy children. We tell Leo a lot of his big brother. And we want to retain. We also talk a lot with Ben. He will always remain an important part of us.
I’m reasonably okay. To have Leo here, really helps, also if he will replace Ben never – but he doesn’t want to. We have our family behind us, and we have the other families affected by this disease, and which are now also become the family, at our side. Shortly after the diagnosis, we joined with the Association Hand in Hand against Tay-Sachs and Sandhoff in Germany.
The European Tay-Sachs and Sandhoff Consortium (ETSSC), we are associated with self-help groups in the whole of Europe and to support the families and research through donations. The research is on a good way. When we received the diagnosis, there was still nothing.
Meanwhile, there are some approaches: drug trials that are to come, and a study on Gene therapy, which would mean the cure is almost in the starting blocks. None of us will give up until someday no child has to die of this cruel disease. The common fight against the disease and the joy of Leo, give me daily strength.
In the case of the loss of a loved one, the grief and pain is, in part, overwhelming, and not to stop alone. Several non-profit organizations and institutions to help in such situations, free of charge and nationwide.
For example, the Association offers Orphaned, parents and grieving siblings in Deutschland e. V. – help and support for bereaved parents and siblings.
The Nicolaidis young wings Foundation addresses nationwide, for both children and adolescents as well as adults who have suffered a loss.
An Overview of grief groups in Germany shows the page trauergruppe.de.
In the specific case of the Tay-Sachs disease and Sandhoff disease, members in the self-help groups of the European Tay-Sachs and Sandhoff Consortium (ETSSC) support.
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