'Princess' who will never grow up

By gtoulson gemma toulson

FOR Tamworth parents Daniel and Marie Aspley every day with their beautiful baby Callie is a blessing. The one-year-old was born with such a rare condition that she is only one of four children to have ever been diagnosed with it in the UK.

Rhizomelic Chondrodysplasia Punctata (RCDP) is a terminal metabolic disorder which affects children, and is a form of dwarfism that causes severe development delays and a short life span. There is no treatment or cure for the condition.

"It was difficult to come to terms with at first," Daniel (30) told the Herald.

"It was more a case of finding out what it was. Because it is so rare most of the doctors have never heard of this before.

"Callie is only one of a few children on record in this country with RCDP."

The couple, from Ellerbeck, Stonydelph, not only face the extremely difficult challenges of caring for their baby, but are also having to share information and research they have obtained with doctors – because they are also relatively in the dark about the illness.

They must also cope with the knowledge that their child won't live a full life.

Life expectancy among children with RCDP is quite low, with 25 per cent not expected to live past a year, and a further 50 per cent don't live beyond five years old.

Another aspect of the condition is that Callie's body can't process animal fats, they can build up in her body and shut down all her systems.

Feeding is so difficult that Callie is now fed through a tube into her stomach.

Her bones won't develop properly, and will not grow more than one cm a year – this is the dwarfism part of the condition.

"She hasn't got much strength in her," Daniel continued. "Most of the kids affected can't lift their hands to their face, but she can a little.

"Because it's such a harsh condition on the body her immune system is affected and we have to be careful who we let near her."

There are different strains of the condition, but Callie has one of the most severe forms and will always need round-the-clock care.

"She needs constant attention, she can't sit up or crawl. She probably won't ever walk or talk.

"When they are very young you can't really tell they have it, but once they have started to grow up it is noticeable."

Daniel and Marie plan to start a charity to help children with RCDP.

They have only had the last few months to come to terms with it as it was nine agonising months before they got a proper diagnosis for Callie.

Daniel explained: "When she was born we didn't think there was anything wrong with her, but a couple of days afterwards, when we were due to bring her home, I insisted the midwife show me how to give her a bath.

"She noticed something was wrong and Callie was eventually referred to a specialist."

Many visits to various different doctors and consultants followed.

There was still no word by Christmas. Soon after Callie underwent operations to remove cataracts from both her eyes.

Genetic studies, tests and research followed.

Then, in July the family finally received a diagnosis.

However, rather than having their baby's condition fully explained by medical experts, the devastating news was delivered in a letter.

"It was just telling us what it was, there was no explanation," Daniel said."It was a month a half later when we talked to a specialist, but by that time we'd already looked it up on the internet and spoken to people in America about it."

Trans-Atlantic online chats with families who have children with RCDP give Daniel and Marie comfort.

Not only are they able to empathise with their situations, but they are also able to learn more about the condition.

The situation is made all the more heartbreaking for Daniel and Marie, because, they say, they probably won't have any more children.

They are both carriers of the gene which causes the condition, so they have a one in four chance of having another child with RCDP.

The charity which they plan to set up – a UK branch of the already established American charity Rhizo Kids – will help fund research and promote awareness of the condition.

It will also provide financial support for families of children in this country who need medical equipment to help with their care.

They have planned a quiz and curry night at Warton Working Men's Club on November 1, and such is the support for their efforts that all 150 tickets have sold out already.

More events will be planned in the new year, and once they have raised £5,000 the charity will be formed.

They hope money raised at the quiz night will buy essential medical equipment for a 13-year-old girl in Kent, one of the oldest known sufferers, who is severely disabled.

Daniel added: "We'd like to thank all the people who have helped so far with the fundraising and thank the companies who have donated prizes for the raffle, especially the shops and businesses of Atherstone, Atherstone Leisure Centre, Tamworth Football Club, Tamworth Castle and Twycross Zoo to name just a few."

He and Marie say they are also grateful to their family and friends for their support in recent months.

Their main focus is now their beautiful little girl, and on giving her the best life they can.

"She's a lovely little princess, who is a lot of hard work, but she gives us lots of love back in her own little way," Daniel said.

Anyone who wants to know more about the condition should go to www.rhizokids.com. To check on Callie's progress go to www.caringbridge.org/visit/callieamberaspley.