More about Trofinetide (NNZ 2566)

Trofinetide (NNZ 2566) increases the amount of connections in your brain that control thought and movement, more connections are good.

Rett Biology
People born with Rett syndrome have fewer synaptic connections. They also have overactive microglia, which are responsible for the maintenance of these “connective structures”.

What we hope to change
Trofinetide  does 2 things:

  • Helps form new spines
  • Quietens the gardener (microglia)

More spines mean more synaptic connections.

Quietening the gardner (microglia) means that fewer spines are pruned which means even more synaptic connections.
NNZ 2566

Who can take it?
Trofinetide is an oral drug, there is no specific age or sex requirement. We believe that it will be available for boys and girls, regardless of their age.

However, drugs require clinical trials before they are accepted for use, and there are so few boys that it’s incredibly difficult to run an effective trial. That doesn’t mean that boys won’t be able to access it, it just means that it will take a different pathway through the FDA. The pathway will be dictated by the success of the girls’ trial.

Thank you to DR. Steve Kaminsky for everything he does.
Rettsyndrome.org

More about Trofinetide (NNZ 2566)

The chain of trust

It’s difficult in the modern world to give over the care of your most treasured possession, your child, but the reality is that this is very often a requirement of modern life. In the everyday chain, teachers, doctors, baby sitters, they’re all part of their lives and you have to trust in the system that they will take care of their responsibility.

Anyone who shares a responsibility for care of your child becomes a link in your chain of trust. For people without disabled children, this chain is far smaller than the one you develop as the parent of a child with a disability. The complexity of their disability will often mean that even more people are part of this chain.

It extends from members of family or friends right the way through the care pathway of teachers, therapists, drivers, nurses, doctors, specialists and various other people. Anyone who helps take care of their needs or touches their lives.

What happens when the pool of people you are required to trust is huge?

This is what it is like for a parent of a child a with Rett syndrome. The sheer number of people they are required to trust with the care of their child is big. It’s a necessity, special training is often needed for things as simple as babysitting. Which means they need to grow that bubble of trust to people who they’ve never met before.lovesomeone

This chain of trust is vital to any parent, but especially the parents of a child with a disability, and trust in the chain is essential. People in the chain don’t only have a responsibility to the child, they also have a responsibility to the chain.

What do I mean by that?

When something happens in the chain and no one takes responsibility for it, it tarnishes all the links that are joined to that area, because you don’t know where the mistake was made. So you start to mistrust a much bigger chunk of the chain.

For example

Recently a friend of mine had a terrible experience: she put her daughter in respite so she could attend a family funeral. She later got a call to tell her that her daughter was in massive pain and had been rushed to hospital. She found out that her daughter’s leg had been broken sometime after she had left her in the care of others.

In the chain of care, her daughter had gone to the respite hospice, then placed on the school bus, which took her to school where they noticed that she was clearly in a lot of pain.

Completely besides the point that moving anyone with a broken leg is incredibly dangerous, no one is taking ownership of where the accident happened. So instead of dealing with the actual cause, Mum is left to worry about where this accident took place. All 3 parts of the chain are tarnished by this experience, and at least two of them are not responsible.

Problems in the chain can ruin lives, not for days, but for a lifetime. As your trust in the chain deteriorates, so does your willingness to accept help from people within and outside of the chain. You draw further and further into a self care bubble and become more and more focussed on being the constant carer.

Being a constant carer is also unhealthy, not just for you, but for other family members too. In Rett syndrome the girls are very definitely social, they love friends, they love to play, they love to be part of a bigger life. So keeping them chained by the chain, is not only painful to you, but painful to her too. The only way there can be social release is to have trust in the chain.

Parents are pushed into a position where they have to reaffirm every little detail with the people in the chain. Constantly reminding them to make sure not to take their daughter out into the cold or the rain, and to keep her warm. To make sure she is fed, and has liquids, that she’s had her medication.

That something as simple as having her shoes on the correct feet is done. (I’m not kidding, some of the girls have been sent home with the wrong shoes on the wrong feet). How does a non verbal child (or adult), that has no control over their body, tell you when something is wrong and what it is?

Trust is like an eraser it get's smaller & smaller with every mistake.So what does this mean?

If you are part of the chain, a carer, a baby-sitter, a doctor, a teacher, a bus driver, a social worker, a therapist or anyone in the chain, please:

  • be patient
  • pay attention, listen and take notes if necessary
  • take responsibility
  • read her notes
  • give feedback
  • keep the parents informed
  • be proactive
  • communicate with the links in the chain your are connected to

Remember these parents are only interested in one patient, their child. They want you to treat her as an individual. Keep in mind, your actions will not only affect the child, but affect the chain of trust too.

Let’s try to fix what we can

There are so many things with Rett syndrome that we cannot fix right now, because they are (currently) beyond our ability. Which is why taking care of things we can fix should absolutely be our focus.

I understand accidents happen, but degradation in trust is not because of accidents, it’s because of repetition and responsibility.

Please, please take responsibility.

The chain of trust is precious, and you need everyone to help keep it strong and healthy.

The chain of trust