GOSH patient donates lung tissue for vital research

3 Oct 2022, 9:30 a.m.

Skye stands on the GOSH roof garden smiling while her Mum, Mairi holds her younger sister Amelia smiles and sticks her tongue out.

Skye Van Hoven, 15, was diagnosed with a rare form of Primary Pulmonary Hypertension in 2020. Following a lung transplant in 2021, Skye donated her lung tissue to the GOSH Sample Bank in the hope that one day they will help scientists find a cure for other people living with the condition.

A path to diagnosis

In 2020 when Skye was 13, she started struggling to breathe while doing simple things like walking up the stairs doctors initially thought she had asthma. But following tests on her heart and lungs she was diagnosed with Primary Pulmonary Hypertension.

Primary Pulmonary Hypertension is a rare condition where blood vessels in the lungs narrow and cause blood pressure to rise. This in turn causes excess strain on the heart which leads to heart failure.

When I found out I had Pulmonary Hypertension (PH) I was so shocked. I didn’t really know what to do or think, I had never really been through something like this before. But I knew it was serious when my Mum started crying as she told me the news.

Skye, 15

Skye’s family were eventually transferred to the care of the Pulmonary Hypertension team at GOSH and in November 2020 they made their first trip to the hospital.

Sometimes when I think about what we have been through or have flashbacks, I get so overwhelmed by all the emotions. I just thank my lucky stars that the teams at GOSH exist. They became like our hospital family, providing us a home away from home and a safe place

Mairi, Skye’s Mum

After a prolonged stay at the hospital Skye was fitted with a CADD-Legacy™ pump to continue her treatment. Drugs for PH aim to widen blood vessels and therefore relieve some of the rising blood pressure PH can cause. While they can be given as a short-term treatment in hospital, Skye was fitted with a Hickman line and a battery powered pump to allow for drugs to be administered long-term from home.

This meant Skye was able to get home to Scotland and even start back at school with her friends. Unfortunately, after less than a year, the treatment stopped making a difference to Skye’s symptoms and she was rushed back to GOSH as her symptoms worsened.

Getting her lung transplant

It was then that Skye and her family were told that she would need an emergency lung transplant within 4 to 6 months in order to survive.

Skye was too sick to return home while she waited for new lungs and was put on stronger medication to relieve the pressure on her heart. Her extended stay at GOSH meant she had to spend her 14th birthday at the hospital.

The staff at GOSH made my birthday so special, even though I was in hospital. I love Harry Potter and so the Pulmonary Hypertension team all dressed up as Harry Potter characters and took me to the Sky Garden at GOSH. They even managed to get Tom Felton to record a birthday message for me – I never thought Tom Felton would know my name!

Skye

In September 2021, a week after her 14th birthday, the family found out that Skye would be getting her lung transplant.

Skye stands on the GOSH roof garden, leaning against a wooden frame. She wears a white jacket and smiles with long braids in her hair

That whole day is a blur, things happened so quickly and there were so many emotions. Having to wait while Skye had her surgery was incredibly stressful. The transplant team said Skye’s lungs were in awful condition and her heart was under so much strain that it had grown in size. I am so grateful that Skye was able to get a new set of lungs

Mairi

I’m so grateful that I have been able to have this lung transplant, I’m already starting to feel much better. Now that I don’t have to have a pump for my treatment constantly, I can wear what I want and I’m already counting down the days until summer so that I can go back to swimming in Lochs. I missed doing that a lot when I was sick!

Skye

Donating samples for research

While waiting for her transplant, Skye and her family gave their consent for Skye to be a part of the GOSH Sample Bank project – that aims to collect leftover samples from patients and use them for life-changing research. Through this project, the PH research team at GOSH were able to collect Skye’s lungs following her transplant.

I hope that donating my lungs for research means that something good comes out of this. Maybe one day my lungs will help scientists to find a cure for Pulmonary Hypertension or a treatment that isn’t as extreme as a lung transplant!

Skye

During her diagnosis, it was discovered that Skye has a rare genetic mutation in a gene called Sox17, that has been connected to the development of PH. It is thought that Skye may be one of only a few people in the world with this mutation. This makes the donation of her lung sample even more invaluable, allowing scientists to study this rare genetic condition.

The GOSH Sample Bank project has been a fantastic way for us to collect vital samples for our Pulmonary Hypertension research. We are so incredibly grateful to the children, like Skye, who have donated their samples. Without them our research wouldn’t be possible

Lynsay MacDonald, Research Nurse at GOSH.

Sometimes Skye gets sad that she doesn’t have the lungs that she was born with anymore, but we are so grateful that another family gave us the gift of these beautiful new lungs. And we feel proud that Skye has given her lungs in a different way.

Mairi

Learn more about GOSH Sample Bank.

Celebrating three years of progress and breakthroughs at the ZCR

We're celebrating three years of the Zayed Centre for Research. That's another year of breakthrough research, with hundreds of clinicians and researchers collaborating to help seriously ill children from across the globe.

Engaging with our neighbours on data, research and the environment

One way to engage children in data, research and our environment is through the creation of micro-gardens. The GOSH scientists involved with the festival picked this activity to teach young people about the importance of natural spaces in urban areas...

Children at GOSH first to receive CRISPR-edited universal T-cells

Researchers at GOSH and UCL GOS ICH are the first to use CRISPR/Cas9 technology to engineer donor T-cells to try to treat seriously ill children with resistant leukaemia