A mum’s pregnancy was put at risk down to her rare condition that only 600 people have around the globe.
Donna Marie Parry first suffered with lung collapse as a teenager and then experienced 13 years of serious medical complications, including multiple hospital admissions from the age of 17.
However, it wasn’t until becoming pregnant in 2020 that she discovered the reason behind her medical issues.
She was diagnosed with Birt-Hogg-Dubé Syndrome, or BHD Syndrome, a rare condition which has only been reported in around 600 families across the world.
BHD syndrome impacts the skin and lungs while also increasing the risk of certain types of tumours, reports WalesOnline.
Donna’s rare condition meant that her pregnancy was classed as high-risk and it was overseen by Dr Aparna Gumma, maternal medicine specialist consultant at Ysbyty Gwynedd in Bangor.
During the pandemic, Donna had been deemed “even more high-risk” due to the virus.
Donna, from Penysarn in Anglesey, said: “Due to my condition I still needed to keep in contact with my clinical team as I had to be closely monitored throughout my pregnancy to make sure I was okay.
“My caesarean was all booked in for the start of January so I felt I could relax and I hadn’t suffered with pneumothorax during this time so I felt pretty confident everything was going to go well.
“I was also under the care of the respiratory team the whole time. They were fantastic.”
But, just a week before Donna’s planned caesarean, she suffered a collapsed lung and was rushed to Ysbyty Gwynedd.
A team made up of consultants, anaesthetists and midwives needed to act quickly to carry out an emergency caesarean.
Dr Gumma said that a patient with a rare condition such as Donna’s would normally be transferred to a specialist hospital for management of their pregnancy.
“However in this instance there were no reported cases in the world with this condition in pregnancy so we worked together as a multidisciplinary team to manage her pregnancy here with us at Ysbyty Gwynedd.
“We had arranged a planned caesarean in January but when Donna came into our emergency department we knew due to her condition that we had to change our plans and bring the caesarean forward to ensure both mother and baby were safe.”
Donna gave birth to a healthy baby girl on December 31, 2020, thanks to the actions of the team.
Her daughter, Erin Lois Jones, is now fast approaching her second birthday.
Donna said: “I am so grateful to all the team at Ysbyty Gwynedd for the way they looked after both of us during the pregnancy.
“My condition was also something they had never dealt with before but they really helped put me at ease and made me feel safe.
“I had no complications with my birth and Erin is doing great. I just want to thank the team for what they did for us.”
Dr Gumma added: “We are so pleased to hear Donna and Erin are doing well.
“This really was a huge effort by all the teams together with Donna – our main priority was to keep mother and baby safe throughout and I’m very proud of everyone who was involved.”
She had suffered a spontaneous pneumothorax which meant she needed urgent medical treatment to keep her and the baby safe.