Emily meets Princess Letizia at the Zarzuela Palace. Madrid.
Ruth Ferguson and her family were guests of the Spanish Royal family at a special reception in Madrid last week.
Ruth, from Grange Park Road in Waterford, has lived in Spain for 20 years.
She attended Ursuline Secondary School in the city and graduated from University College Cork (UCC) with a BA in Spanish and French.
“My plan was to go to Spain for a year and France for a year on finishing college to perfect my languages but I ended up meeting my future husband shortly after arriving in Spain,” she explained.
“His name is Samuel Garcia Salcedo and we married in Killarney in 2002.”
The couple live in the southern Spanish city of Murcia.
Their daughter Emily has a very rare genetic disorder called Wolf Hirschhorn Syndrome (WHS).
On Monday February 10th, five families, all members of the Spanish Wolf Hirschhorn Association, had an audience in the Zarzuela Palace in the Spanish capital with the future queen of Spain Princess Letizia.
They were accompanied by two geneticists, a neurologist, two scientists and an occupational therapist.
Princess Letizia, a former journalist and TV news presenter, is the wife of Crown Prince Felipe (Prince of Asturias) who is the heir apparent to the throne of Spain.
The purpose of the meeting was to raise awareness of WHS and to highlight the ongoing work which is taking place into researching the disorder.
“We were with the Princess of Asturias for about an hour. It was an amazing experience and a huge step for such a rare condition,” explained Ruth.
“Princess Letizia showed great interest in this extremely rare disorder and the investigations, genetic and neurological, that are underway at the moment in Spain.”
Wolf Hirschhorn Syndrome is a deletion on the short arm of chromosome 4.
This missing genetic material results in severe developmental delays, a characteristic facial appearance, growth delays, epilepsy and may include a variety of other birth defects.
“It is a very rare condition and is estimated to occur in approximately one in 50,000 births,” explained Ruth.
“The effect on WHS children/adults varies widely. Some can walk, talk and assist in their daily care while others are non verbal and require constant care. The medical involvement also varies from near normal to severe. However, a common trait seems to be that they are happy, loving individuals.”
And this is something which certainly applies to Emily.
“What she is missing on her 4th chromosome she makes up for in personality and perseverance She is an amazing little girl and touches the hearts of all those who know her,” said her proud Mum.
“Emily has proved so many professionals wrong and never ceases to keep surprising us with new milestones even if they are few and far between. We have a favourite quote which describes her so well: Don’t tell me the sky is the limit when I know that there are footsteps on the moon!”
Throughout her five years, Emily has already overcome many challenges.
“We got Emily’s diagnosis when she was only three weeks old. The outlook we were given was horrendous and what I read was no better,” said Ruth.
“However, Emily is doing great considering she is so neurologically challenged. She weighs no more than 7.4 kilos. Despite her tiny doll like size, she can walk and goes to mainstream school. She is non verbal but has no problem getting her message across through signing (Makaton), photos or simply taking you to what she wants and pointing. She understands both English and Spanish. Her health is very good in general and her epilepsy has been under control through medication since she was two. Her younger sister Alana has played a massive part in her progress.”
While Emily’s condition has received some much welcome publicity through the recent royal reception, WHS is still relatively unknown to many.
“In five years I have never come across a doctor who has heard of WHS, but various countries are raising awareness of this unique condition,” said Ruth.
“We know of about 30 families in Spain and four in Ireland, but there are probably more in both countries. The first person we were in contact with was a father of twins with WHS from Dublin. When Emily was 10 months old we took her to a WHS conference held by the UK and Irish WHS group in Northampton. We are also in contact with many families from all over the world on Facebook. There are official groups in the UK (www.whs4pminus.co.uk), Spain (www.wolfhirschhorn.com), the USA (www.4p-supportgroup.org ), Australia and Italy.”
The family travel to Waterford at least twice a year, with their next trip planned for Easter.
With her own determination, and the support of her loving family, little Emily will hopefully continue to put many more “footsteps on the moon”.