Better treatment for birthmarks

When little Freya was born, her mum Sarah - a health professional - was delighted that her daughter appeared perfectly healthy. But at home a few days later, Sarah noticed a mark developing under Freya's chin.

"It was very faint, pale pink and flat, beginning just under her chin and extending along her neck," recalls Sarah. "At the time the weather was pretty warm and at first I thought it might be a heat rash."

When Freya’s health visitor saw the mark, she was concerned. She suggested that Sarah should take Freya straight to their GP in Ipswich to exclude meningitis.

"Thank goodness it wasn't meningitis - but it was the first of several visits as doctors tried to work out exactly what the mark was," says Sarah.

"Day by day its colour was getting brighter pink although at this stage it was still flat, and I wondered whether it could be a port wine stain birthmark.

"Then the skin on the mark started to become raised and bright red. Florid is the word they use to describe it. It was becoming more swollen by the day, extending from her neck, under her chin and around her ears. It developed into what was called a 'beard' distribution."

Getting a diagnosis

Paediatricians at Ipswich diagnosed a haemangioma or 'strawberry’ birthmark. Sarah researched the condition on the internet and was alarmed to discover that in the most serious cases extensive birthmarks like this could potentially be associated with internal problems.

In rare cases, haemangiomas can be linked with vascular malformations in the brain leaving children more vulnerable to stroke.

Sarah was concerned that the haemangioma was extending into Freya's ear canals with the possibility of affecting her hearing, which in turn could affect her speech and language development.

But it was Freya's breathing that was Sarah's immediate concern.

"I could hear her from downstairs - her breathing was becoming increasingly laboured," says Sarah.

"I could see inside her mouth that the birthmark was affecting her tongue (her soft palate) and I was worried that it could compromise her airways.

"By this point the haemangioma was pushing Freya’s ears closed. Also, the skin around her mouth was affected and she couldn’t suck a dummy although thankfully her feeding wasn't affected.

"There was a day at the local hospital when I realised that this was not simply a superficial skin problem but potentially something more serious. It was a difficult time."

Specialist referral

Paediatricians and nurses at Ipswich were very supportive, says Sarah, but they referred Freya to the Birthmark Unit at Great Ormond Street Hospital - a specialist centre for treating complex birthmarks.

"I was put in touch with Hilary Kennedy, the specialist nurse, and emailed over some photos of Freya. She said that Freya did need to be seen, and to be honest I was relieved to go to a specialist centre," says Sarah.

"I had heard that GOSH was at the forefront of treating difficult birthmarks in children and that the team was having encouraging results with new treatment that was available."

Excluding internal problems

At their first appointment, Sarah met Hilary and Paediatric Dermatologist Dr Mary Glover. Freya was referred straight away to the ENT department to check her ears, and for a microlaryngobronchoscopy (MLB) to be performed to check her airways. The team also arranged for a brain scan to check for any vascular problems.

"She had both investigations under general anaesthetic within a few days," says Sarah. "I was impressed by the staff - they explained things really clearly and the co-ordination between the different teams was excellent, but it’s really difficult to leave your tiny baby on table in the anaesthetic room. I also dreaded her blood tests, having to restrain your baby while blood is being taken is hard."

While Freya's tests were being carried out, Sarah and her mum stayed in the hospital’s patient hotel.

"It was such a useful facility. I’m a single mum and my own mum was able to stay with me for support. There was no charge which really helped. My friends also held a fundraising event to pay for travel costs. I felt incredibly supported."

Fortunately the test results showed that Freya's breathing problem was not linked to her birthmark, she had a 'floppy larynx' which would resolve of its own accord and also that her hearing was not affected. Her brain scan was also normal.

"I was incredibly relieved and the team then switched their focus to treating Freya’s birthmark," says Sarah.

Starting treatment

Freya (alone) - Real Story
Sarah already knew that GOSH has extensive experience in the use of propranolol, medication normally used to treat heart problems in children, in tackling complex birthmarks - with dramatic results.

"Freya came in for a day to have a trial dose to make sure she did not react to the medication," says Sarah. "Even after the first one or two doses, I felt certain that her birthmark looked paler.

"As she was tolerating the medication so well, she went up to a therapeutic dose and I could really see a difference. The birthmark quickly became less florid."

Freya continued on her medication three times a day at home, the dose gradually increasing in line with her weight, and the improvement in her birthmark continued.

Sarah's main concern had been any possible medical problems linked to her daughter’s birthmark - but there was a cosmetic issue too.

Explaining to others

"Whenever I met anyone new I would immediately explain about Freya’s birthmark so that they didn’t feel uncomfortable," says Sarah.

"I guess subconsciously I was pre-empting any comments. Occasionally people asked me if she had cherry or strawberry on her face - or was it eczema? Children were naturally curious and would stare and whisper but I always made an effort to explain about the birthmark in positive terms, explaining that it didn’t hurt her.

"Now the birthmark is so much better, it's gone from being really deep red to not so noticeable, much paler and flat. I don’t even think about it when she meets new people.

Sarah now brings Freya to GOSH for three-monthly check-ups and she has her blood pressure monitored at her local hospital.

Support available

"It's been great to be able to contact Hilary at GOSH in between appointments by email and phone," says Sarah. "She's very busy but has been very supportive and gets back to me really quickly. For example her advice on skin care and which ointments to use on Freya’s birthmark has been very helpful.

"Help is always available - being able to contact GOSH is like having a safety net."

Without treatment, the natural course of Freya's birthmark is that it would probably have continued growing for several months, then would have gradually resolved and disappeared of its own accord by the time she starts school.

"Without medication though, because of its large size and location it could have affected her mouth and ears even more significantly and the skin could have broken down and become ulcerated," says Sarah.

"She will still need medication in the months to come, but we will gradually be able to reduce it then stop it altogether.

"Freya's birthmark is part of her, part of her identity, but of course with all the potential physiological and psychological effects I'm glad that it is being treated. It’s fantastic that such effective treatment is available and I’m very grateful that we have been able to access the expertise at GOSH."

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