Treatment For Torben

----------

Update:

We closed this crowdfunding campaign in November 2020, earlier than we had expected. That’s because our world collapsed in the early hours of November 5th. Our beautiful Torben passed away suddenly in the early hours. Writing this nearly three months later, we’re still struggling on a daily basis living this new life without him.

As we’re mourning the loss of our little Torbear, it’s both heartwarming and heartbreaking knowing that, like us, hundreds of you wanted him to get a new chance at life through gene therapy and that you did so much to help him. It’s so hard knowing that we can no longer give him that opportunity and that none of us will ever see all the amazing developmental strides we were so hopeful he’d make.

We know you all wanted to help Torben, which is why you made such generous donations. The money you helped raise on JustGiving stands as something that enables us to help other AADC children fundraising for gene therapy, so that maybe they can achieve the milestones and life experiences Tor and we wanted.

We want to pass the money raised via the Treatment for Torben JustGiving page on to other AADC families fundraising for gene therapy. The figure stands at £28,730.24, when JustGiving has taken its fees from the total. Money raised outside of the JustGiving page we’re planning to donate to charities and causes that helped Tor, both during and after his life.

When we launched this page we stated the following:

“If, for some reason, Torben cannot have the treatment or there’s not a need for the treatment to happen, the money will be put towards the costs of gene therapy for other AADC children. But, if you’d prefer, there may be the option to have your donation refunded in whole or in part minus any charges Just Giving applied to your donation.”

We intend to honour this offer of having your donation refunded in whole or in part, minus the charges JustGiving applied to your donation upon transferring it to Tor’s offline fund. To ensure you receive an amount in proportion to your donation, we have to ask that you provide proof of your donation. Please contact us before February 15th 2021, by using the ‘Contact Richard Cartey’ link on this page, if this is something you’d like to request.

Thank you so much for supporting Torben. Your help gave us such hope. Hope that we’d like to pass on to other families.

----------

With a few minutes’ effort, you can help Torben live the life he’s supposed to, not the one he’s trapped in.

Torben’s a severely disabled three-year-old boy who loves exchanging smiles and giggles with anyone he meets, watching CBeebies with his ‘big brother’ Nanook the dog, and going to see the Sheffield Steelers ice hockey team. But, unfortunately, he cannot walk, talk, or even feed himself. However, if he could access a unique gene therapy treatment, he’d have the chance to develop the everyday skills we all take for granted and enjoy a whole new set of smiles, stroke his friend Nanook, and maybe even skate on ice like the hockey players he loves watching.

But this pioneering gene therapy procedure isn’t available on the NHS. We still want him to have this chance to do more ‘normal’ things, but it costs €68,680 (£60,000-63,000 depending on the exchange rate). Like many people around the world, we don’t have anywhere near that in savings. Nor do our family members. Which leaves us with one option: turning to others.

What’s wrong with Torben?

Tor has AADC deficiency (often called AADC or AADCd). It’s an ultra-rare genetic disorder that affects fewer than 150 children worldwide. Torben, who lives in Leeds, UK, is one of around six kids in the country who’ve been diagnosed.

AADC stands for aromatic amino acid decarboxylase. It’s an enzyme that helps produce two vital brain chemicals: dopamine and serotonin. These are neurotransmitters that are key to everyday life. Because he doesn’t have many, or any, of them, AADC deficiency means he struggles with:

- Deliberate movement – As it stands, Tor might never walk or talk. He can’t sit up on his own. He's never been able to hug or kiss either of us. Gene therapy could change all that.

- Seizure-like episodes – Tor suffers from what we call ‘episodes’ but are also called oculogyric crises (OGCs). They’re like seizures. Tor loses more or less all voluntary movement and has painful and exhausting muscles spasms for several hours. Every child who’s had gene therapy has stopped experiencing OGCs.

- Using his hands – Tor can’t easily open or close his hands. That means he’s never played with toys like most three-year-olds have. Many children who’ve had gene therapy have developed the ability to grip and release items on demand.

- Eating – Tor has been tube fed since before his first birthday. He’s been assessed as having an ‘unsafe swallow’. That means when he tries to swallow, even if it’s something simple like pureed baby food, there’s a higher risk some of it will go down into his lungs instead of his stomach and cause a chest infection. Those are known to be extremely dangerous to kids with AADC. He’s allowed to have tiny amounts of pureed food, but that’s it.

- Digestion – Tor struggles to put on weight because his body doesn’t digest his liquid feeds properly. This also affects his strength and growth. Gene therapy has seen children put on weight and gain energy.

Many, or maybe even all, of these things could be improved with gene therapy if we could raise the money with the help of people like you.

What does this gene therapy treatment involve?

It’s a special type of brain surgery that’s only done in a few locations around the world. The closest one to Tor is in Poland.

The procedure would involve injecting something called a vector into a particular area of Torben’s brain in a very particular way. The vector is like a good virus that tries to rewrite the faulty gene that means Tor doesn’t produce the AADC enzyme.

At the moment, Tor is under the minimum age of four to receive the treatment, but we’re hopeful that will be reduced. We also expect it’s going to take a while to raise all the funds, so why not start now?

No other treatment for AADC sufferers can offer the types of results gene therapy has produced. We just need to raise the money to give Torben the opportunity to see these results too.

How will gene therapy help Torben?

To be blunt, it could save his life. Several children with AADC die every year. That might not sound like a lot, but when you consider fewer than 150 children have it, it proves how dangerous this disorder is to sufferers.

It could also give him the chance to:

- Say ‘mummy’ and ‘daddy’.

- Move his hands and pick up the toys he loves watching us play with for him.

- Enjoy independent movement. Whether that be manoeuvring an electric wheelchair, crawling, or walking.

- Sit on his own in a normal chair when we go to a café, visit family, or go to see ice hockey.

The outcomes seem to be different for all the children. Some respond exceptionally, some not as well. But they all improved after treatment. There’s only one way for us to know how Tor will respond; if we can raise the £70,000.

Where will the money go?

The ‘bill’ for the treatment is €68,680. Which, depending on what exchange rates are like at any given moment, works out to something like £60,000-63,000. We’ve set the target at £70,000 so we’re not short of the money if the exchange rate goes against us.

If we hit our target, or are fortunate enough exceed it, and the exchange rate works in our favour, any spare money would be helpful for covering all the additional expenditure that’ll come with this: flights to Poland and back, insurance, cost of living in Poland for around 10 days. There is also the chance of specialist, private physiotherapy before and after the surgery that’s likely to be very expensive.

If there were still any excess money, we’d like to put it towards other families who are also fundraising for gene therapy, so your generosity won’t go to waste. There are lots of other children as in need of gene therapy as Tor is. But, if you’d prefer, there may be the option to have your money refunded in whole or in part minus any charges Just Giving applied to your donation.

There’s no time limit or target date for raising these funds – we’ll simply keep going if we haven’t hit the £70,000 when Tor is eligible for the treatment.

If, for some reason, Torben cannot have the treatment or there’s not a need for the treatment to happen, the money will be put towards the costs of gene therapy for other AADC children. But, if you’d prefer, there may be the option to have your donation refunded in whole or in part minus any charges Just Giving applied to your donation.

What’s Torben’s current treatment?

There are two sides: the medicine side and the physical side. Tor takes four types of medication, some of which are really intended for adults, but these provide a limited amount of benefit in his daily life.

He also has a few pieces of equipment that help him physically. He has a standing frame that provides significant support but allows him to be in an upright position. Tor has never walked but to have any chance of doing it, his hips need to grow normally and be used to bearing weight.

He also has a special wheeled, postural chair that gives him a place to sit where his legs are pointed in the right direction and his head is comfortably angled – normal seats don’t provide the same level of support.

We combine those with physio at home, where we try to ensure he experiences different positions through the day (sitting on the floor, laying on his side, tummy time). He also loves hydrotherapy, which has helped him a lot.

A lot of this has been provided by or through the NHS so we’re very lucky. Not all AADC kids around the world have access to this amount of help.

Can I keep up to date with progress?

Absolutely! Because he’s a little superstar, Torben has his own Instagram page, @torbearsitall. We started it not long after we found out he has AADC deficiency as a way of raising awareness for this extremely rare disorder. There’s also a Facebook page, Tor Bears it All, that has the same posts. And, as of January 2020, there's also a Twitter page, @torbearsitall.

Tor’s mum, Lizy, is always posting and it’s safe to say pretty much every moment of having gene therapy and the recovery would be recorded.

Keeping everyone up to date with Tor and how he responds to treatment would be the very least we could do for you and everyone else who donated to help Tor have a chance at the life he deserves.