Mum of Tessa - born without a nose - opens her heart about family's struggle for information on rare condition
Published 23/06/2014 | 12:00
Little Tessa Evans is the light and joy of her family. The 18-month-old toddler was born with an extremely rare condition that means she has no nose.
But after reading medical advice on the internet that recommended pregnancies be terminated if the unborn baby has Tessa's condition, her parents decided to speak out to try to demystify the condition and the fear that surrounds it.
After their daughter was born with the facial anomaly, known as arhinia, Grainne and Nathan Evans were overcome with shock, as there is very little medical knowledge about it. There are very few babies like Tessa, and only 47 cases have been recorded in medical literature in recent history.
The family, from Maghera in Co Londonderry, admitted they cried and struggled following the birth of Tessa on Valentine's Day last year, but said that the despair of knowing so little about their daughter's condition had connected them to families across the world battling with the same experiences.
Tessa is now the heart and soul of her family, and her mother Grainne said she had brought only happiness to those who had met her.
After Grainne and Nathan struggled to find medical advice, they searched online, but were horrified after coming across a medical journal published five years ago.
"After she was diagnosed I did a Google search on the condition and I could fine nothing on it. It was one of the most terrifying things," said Grainne.
"One of the most heartbreaking things was when I did a online search and found one surgeon who published a journal about the condition, and it says that these babies have poor mental and physical abilities and it's best to terminate the pregnancy. That statement is false on so many levels."
Babies affected by the condition usually experience sight problems – the little girl lost sight in her left eye.
"She has coloboma in her right eye, which means it's an irregular shape, and she has no iris on the edge of her eye, but she is able to see quite well and it's one of the things we are most grateful for, as other families who have kids with this condition are completely blind. It's a joy to see her lift up bits of fluff off the floor," said Grainne.
"We know of one little girl in Wales and one teenager in Scotland who was born the same, but it took us a long time to find other families, which was incredibly scary for us.
"She can receive treatment which can change her appearance and can be done in various ways, but no outcome seemed to be good. But at the minute we are waiting to hear from a surgeon in Great Ormond Street Hospital, who will perform surgery which will be the first of its kind.
"They place a little nose mould which they slide under her hairline and it would give the appearance that she has a nose. It would be a little bit of a change, nothing dramatic or invasive.
"At the time I hated the idea of it and it may me sick to the stomach they were going to do that, but it seems to be the best procedure.
"It's very bittersweet to change something that is gorgeous on her own. She might want to have a normal looking face and have an easier life, but we won't know that until she is a teenager.
"There is so little medical knowledge about the condition, and if there was more then it could potentially save lives as these babies are so capable of so much. It breaks my heart because they aren't getting the attention they should.
"During my pregnancy they noticed she had a flat facial profile but a number of scans were carried out and everything seemed normal. Then when she was born the hospital staff saw her face and they started shouting and put on alarm bells, it was scary."
The family have now called for accessible and accurate literature on the condition because they say what is available online is misleading.
Grainne added: "She is such a joy and makes us so happy, and no one should be scared as we were."
Misconceptions surround the defect... but many lead a normal life
Congenital arhinia is defined as the absence of an external nose, nasal cavities and olfactory apparatus.
There are many misconceptions surrounding the defect which has led to children being abandoned and put up for adoption.
Arhinia has been reported as a life-threatening condition which requires a highly skilled neonatal resuscitation team in the delivery room.
However, many babies born with the condition often go on and lead a healthy and normal life.
It is an extremely rare condition and poses a major challenge for surgeons.
There are a number of medical procedures that can be performed to reconstruct facial features, but it can often be very invasive for babies.
A 3D ultrasound with facial profile can detect the condition by 12-16 weeks during pregnancy. In Grainne Evans' case, an abnormality was detected, but not correctly diagnosed until birth.