What is Patau's syndrome...?

Hey Baby Girl,

As Mummy says when anyone asks her... "Patau's is a death sentence".

And I know that sounds harsh. But that's because it is!

Patau's Syndrome is one of those things in life that needs to be cured. But the simple fact is, we just don't know how... Not yet!

When Mummy and I talk about Patau's. Usually when opening up about what happened to you, with friends or family...

We explain it just as I am about to explain it to you.

We're not doctors. We're not midwives. We're not biologists or geneticists.

So if we ever meet a family wanting to understand what Patau's Syndrome is...

We will always (ALWAYS!) urge them to seek as much professional advice as possible!

We did!

I lost count of the amount of tests, conversations with doctors, midwives and hospitals we visited... Trying to find some slither of hope that we could help you.

But sadly. Cruelly.

There was literally nothing we could do.

From the moment of your conception. You had a rare condition called Patau's Syndrome.

And that meant the opportunity of live any kind of life.

Let alone any kind of normal life...

Was not going to be yours to have.

So, 'What is Patau's Syndrome?'

Quite simply, it is where the DNA within your cells joins during conception. But instead of joining normally. They join incorrectly and as a result, are missing significant amounts of genetic information.

This leads to all sorts of varied and unpredictable developmental problems with the structure of your body, your organs, your nerve system and your brain...

All in very unpredictable ways!

We went through multiple doctors, midwives and hospitals. Trying to understand and find a way to help you. But each step, the prognosis got worse.

Here are some of the numbers we were given.

Statistics seared into my mind! I cannot forget them, even if I tried..!

1 in 4 pregnancies end in miscarriage.

1 in 64 have some kind of genetic anomaly (the most common of which is Downs Syndrome).

1 in 612 have a genetic anomaly that's not Downs Syndrome, but something rarer (and almost always worse).

1 in 5000 have Patau's Syndrome.

Of those babies who have Patau's, over 95% don't survive to birth.

Of those who survive to birth, 90% don't survive the hour. 90% don't survive the day. And the chances go down from there... The week. The month. And so on.

Mummy and I, in all the research we did. All the experts we spoke to.

We could not find a single case of a survivor even as far as to their teenage years.

I did find a research paper that I didn't show Mummy (she was already struggling as it was. It wasn't fair to twist the knife even more!).

In this research paper, there were a group of doctors following 7 documented cases of babies who did survive to the age of 5yrs old.

7 Documented cases in the world. Over more than a decade.

I didn't work out the statistics of that, but it'll be a lot of decimal places!

7 in the world! And only surviving to the age of 5yrs.

None had a mental development age beyond 18months old.

None could walk. Most could barely move their limbs.

All had spent significant portions of their life in hospital. For one, their entire life. They couldn't leave due to the care they needed.

All of their lives were spent in bed or specialist mobility chairs.

They suffered organ failure. Various operations. Constant medication and pain relief.

One had severe nerve damage, causing their nerve endings to be lit up like a christmas tree! The doctors made reference to that being similar to what they see in burns victims.

That child spent their short life dosed up on morphine 24/7.

That one was especially tough to read about!

I promised to be honest with you. And this is that honesty.

I cry as I write this.

As a father, entirely helpless to do anything to help his baby girl.

It's broken me!

The only thing holding me together is my love for Mummy, your Brother and Sister. And my responsibility to them, to be the Dad I need to be.

But I can tell you this.

It's been a little over 6 months since you died. And every day, I feel like i'm holding on by a thread!

Grief over your loss.

Anger over the finality of Patau's Syndrome.

And a whole mess of other emotions, whirling around inside of me, that I have yet to understand or make sense of!

Patau's Syndrome is rare. It's horrible. And it leads to the same inevitable conclusion for all who have it.

If I had just one wish.

And if I couldn't wish for you to be with us. Healthy and well.

Then so that no other family would have to go through what we have gone through...

I would wish for Patau's Syndrome to not exist!

Love you baby girl,

Daddy

For those following these letters:
You can read more about Patau's Syndrome here:
https://www.nhs.uk/conditions/pataus-syndrome/