When Birthmarks Mean So Much More – Life Like Dolls Commissioned To Change Lives

• • Tumour Charity Commissioned Lifelike Doll to improve diagnosis of genetic condition
  • Dolls will educate key health officials when birthmarks cannot be ignored in babies

The Childhood Tumour Trust (CTT) charity have commissioned life-like dolls, “Birthmark Babies” to improve earlier diagnosis of the genetic condition, Neurofibromatosi

s type 1 (NF1) – a condition which is regularly being missed because it’s tell-tale sign is repeatedly misdiagnosed as ‘just birthmarks’

These life-like dolls have ‘skin’ with multiple flat brown ‘birthmarks’, known as café au laits or CALs -these ‘birthmarks’ are the key diagnostic criteria for NF1 – with the vast majority of babies (80%¹) who have six or more CALs having this condition.

The dolls are specifically being used as a teaching tool, to show health professionals as realistically as possible what they need to be looking out for when examining a baby’s skin – they are being shown at medical conferences and workshops to a wide audience of health professionals including; GPs, Midwives, Health visitors etc – the purpose being to prevent these repeatedly being missed as a sign of this genetic condition.

The production of the “Birthmark Babies” is part of an ongoing campaign by the Childhood Tumour Trust (CTT) to improve the earlier diagnosis of Neurofibromatosis type 1 (NF1).

Dr Carly Jim, trustee of CTT and NF1 researcher at Manchester Metropolitan University (MMU) said, “Early diagnosis is crucial in order to monitor babies with NF1 so that potential complications can be picked up early, this is why it is so critical that health professionals are better educated about this  really obvious key feature of NF1 – it is simple, if a baby has six or more birthmarks, greater than 0.5cm¹ then they almost certainly have NF1 and need to be referred to specialists”.

The idea to use the ‘birthmark babies’ as a teaching tool came when one of the member of the support group, Shaunna excitedly showed the group pictures of the doll that she had had made for her daughter. Shaunna said Georgie is the first person in our family with Neurofibromatosis Type 1. We had no idea what it was when it was first mentioned and were very overwhelmed with what we found out. Georgie was officially diagnosed at the age of 2 this is also when she started asking about her cafe au laits. She’d ask us why we didn’t have any special spots and she did, we always told her because she had NF1 and she was special. We thought about getting these dolls made for Georgie as she always wanted someone close to her to have NF too. Georgie loves her dolls Poppy-Rose and Patrick, she has taken them to hospital appointments with her showing other health professionals there special spots and explaining more about NF. Her dolls have given her so much more confidence when talking about NF, they are like part of the family! Georgie said, ‘she loves them because they have NF like me and I can show everybody about NF and being different”

The charity’s dolls have been very well received so far amongst various health professionals with, Donna Flood a Midwifery Sister with the NHS commenting, “This will really help me when I am performing my extended role of newborn examination checks. I feel a lot more confident in what I am looking out for and will be able to make prompt and confident referrals. The use of the dolls during the presentation was beneficial and I felt that they were very lifelike. They were a good demonstration aid.”

As well as the dolls the charity joint with MMU and the health professional academy have recently launched a CPD unit for health professionals which includes pictures of real babies with the CALs

Health professionals can take our free CPD unit: https://www.healthprofessionalacademy.co.uk/mum-and-baby/learn/neurofibromatosis-type-1

For more information about the Childhood Tumour Trust please visit https://www.childhoodtumourtrust.org.uk/

About Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a genetic condition which causes tumours to grow on nerve endings both inside the body and on the skin. 1 in 2700** babies are born with NF1 which makes it a rare condition but one of the most common rare conditions. Of importance is that also genetic means it can be passed on from a parent in about half of all cases the child is a new mutation so the first in the family. It is a variable condition which means that some people may only have it mildly where as others may have it severely with a number of associated complications some of which may be life threatening. It is a progressive and unpredictable condition and there is no cure. The most noticeable sign that a child has NF1 is the presence of the multiple CALs. although called birth marks they may not actually be present at birth but develop in early childhood, typically by 18 months.

*¹Full reference is Ben-Shachar, S., Dubov, T., Toledano-Alhadef, H., Mashiah, J., Sprecher, E., Constani, S., Leshno, M., Messiaen, L. (2017). Predicting neurofibromatosis type 1 risk among children with isolated caf€-au-lait macules.  J Am Acad Dermatol, 76 (6) 1077-1083. http://dx.doi.org/10.1016/j.jaad.2017.02.027

**Full reference is: Evans D G, Howard E, Giblin C, Clancy T, Spencer H, Huson S M & Lalloo F (2010) Birth incidence and prevalence of tumour-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A: 2010 Feb; 152A (2):327-32. Doi: 10.1002/ajmg.a.33139

Common features of NF1 include: Café au lait marks, Cutaneous Neurofibromas (benign skin lumps), Optic Glioma (tumours in optic nerve), Plexiform Neurofibromas (large benign tumours), Skinfold freckling, Blood Pressure problems, Chest deformity, Epilepsy, Learning difficulties, Bone Problems