Royal blood disorder identified

Scientists have discovered that the so-called 'Royal disease' that afflicted Queen Victoria's descendants was a very rare form of haemophilia. By analysing the degraded DNA (deoxyribonucleic acid) taken from the bones of what are believed to be the last children of Russian Tsar, Nicholas II, scientists at the University of Massachusetts, US, discovered a mutation occurring in F9 on the X chromosome responsible for the production of Factor IX, a clotting agent. A malfunction in this production is the cause of haemophilia B.

Termed 'Christmas disease,' after Stephen Christmas who suffered from the disease in the 50s, haemophilia B affects one in 20,000-34,000 males, according to The Times newspaper. The disorder is passed through the maternal line but it only manifests itself in males, as they only have one X chromosome. It would be very rare for a female to be more than a carrier of the mutation as both X chromosomes would need to be affected.

Dr Evgeny Rogaev, who led the study published in the journal Science, commented, 'We have resolved a medical mystery from the past.' Although it was known that Queen Victoria's descendants suffered from a blood-clotting disorder, it was not known exactly what the condition was. In the publication the authors explain that: 'We identified the likely disease-causing mutation by applying genomic methodologies (multiplex target amplification and massively parallel sequencing) to historical specimens from the Romanov branch of the royal family.' The 'Royal disease' is now extinct, say the authors, but it was passed across the Royal families throughout Europe including Spain and Russia. It is believed the disorder originated spontaneously from Queen Victoria, whose son, Leopold, died after bleeding from a fall. The Times explained that whereas nowadays patients with haemophilia B are given synthetic clotting agents, back in 1905 Tsarina Alexandra turned to the infamous 'psychic' Rasputin.

Tsar Nicholas II and his family were murdered during the Russian Revolution in 1918. It was since believed that two of his children may have escaped, Alexei and Anastasia, but their bones were discovered in the Ural mountains in 2007. Subsequent testing confirmed the identity of the remains and that they too had been murdered.

Fatal heart condition passed on by sperm donor

The American Medical Association has returned the issue of sperm donor screening to the public eye after publishing an article detailing the transmission of a rare and deadly heart defect to nine offspring of a registered sperm donor. The Los Angeles man (42), who is the genetic father of twenty-four children, was given a full medical check, along with tests for infectious diseases and provided a full medical history when he originally donated in the early 1990s but his genetic condition was not diagnosed until one of the children, aged 2, died suddenly from a previous undiagnosed heart problem.

The condition, hypertrophic cardiomyopathy, leads to a thickening of the tissues in the heart, reducing the ability to pump blood. The problem affects around one in 500 people but, according to Dr Heidi Reim of Harvard Medical School and co-author of the article, many more are likely to carry the genetic defect without apparent symptoms.

The San Francisco sperm bank that passed the sperm on has now begun testing all donors with an electrocardiogram to ensure that transmission does not occur again. The article suggested that all clinics should consider implementing such a test as part of the battery of tests each donor engages in. While testing of donors is covered only by voluntary guidelines intended to rule out transmission of infectious and heritable diseases the degree to which genetic conditions are tested for varies widely and is often for rarer, higher profile conditions than hypertrophic cardiomyopathy.

If diagnosed, the condition is treatable through medication, surgery and the implantation of a defibrillator to restart the heart if it stops. Such surgery has now been performed on one of the afflicted children who was already symptomatic and the others are in receipt of regular observation to monitor their condition's development.

Best yet - The Golden Years???

Top 10 Tiger Woods Jokes

One:

Apparently, the only person who can beat Tiger Woods with a golf club is his wife



Two:

What's the difference between a car and a golf ball? Tiger can drive a ball 400 yards



Three:

Tiger Woods was injured in a car accident as he pulled out of his driveway early Friday morning. It was Woods' shortest drive since an errant tee shot at the US Open.



Four:

What was Tiger Woods doing out at 2.30 in the morning? He'd gone clubbing



Five:

Tiger Woods crashed into a fire hydrant and a tree. He couldn’t decide between a wood and an iron



Six:

Perhaps Tiger should be using a driver?



Seven:

This is the first time Tiger’s ever failed to drive 300 yards



Eight:

Apparently, Tiger admitted this crash was the closest shave he’s ever had. So Gillette has dropped his contract.



Nine:

Tiger Woods wasn't seriously injured in the crash. He's still below par though



Ten:

Tiger Woods is so rich that he owns lots of expensive cars. Now he has a hole in one.

Australian mother adds twins to her two sets of quadruplets

An Australian woman, who attracted media attention in 2005 after giving birth to a second set of quadruplets, has given birth again to a set of twins. According to the newspaper, The Australian, Mrs Chalk, 31, has had eleven children conceived using an anonymous sperm donor and artificial insemination, although there are conflicting reports that she may have undergone IVF (in vitro fertilisation). The treatment was given at a private clinic in Queensland.

Mrs Chalk was criticized by some for having the number of children her and her partner, Darren, chose to have. The Fertility Society of Australia took an interest in her case and the IVF Directors' Group issued criticism of the clinic in 2007 as being financially and clinically irresponsible, the Courier-Mail reports. But bioethicist Nicholas Tonti-Filippini at the John-Paul II Institute in Melbourne supported Mrs Chalk's reproductive decision-making. 'It's not up to the government or anybody else to tell people how many children they can have,' he said.

Although it is uncertain if Mrs Chalk did in fact undergo IVF, the case highlights the issue of multiple births which carry increased health risks to both mother and child. Clinics in the UK are advised by the regulatory body - the Human Fertilisation and Embryology Authority - that it is good practice to transfer only one embryo at a time and that multiple embryo transfer does not necessarily increase the chances of pregnancy, but does increase the risk of multiple births. Some commentators in Australia are concerned that financial pressures on fertility patients may persuade them to opt for multiple embryo transfer. 'What might be interesting is whether the Federal Government attempts to decrease Medicare funding to IVF. We certainly hope this does not drive patients to ask for more embryos to be put back in,' said Gino Pecoraro of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists. 'People might be tempted to have more babies at once, thinking that might be cheaper. But the health implications are significant. That would be a major failing of the system and we don't want that to happen.'

The Chalks have told reporters that they do not have any more plans for further children. 'We'd love to have more children, but medically, that's it,' Darren Chalk said, adding: 'We'd have to buy a bigger bus!'

Cancer dad who went through IVF despite knowing he won't live to see his baby girl grow up

Cradling his newborn baby for the first time is a huge milestone in any father’s life – one of those moments he will never forget.

But for Eamon Gorman, who has had chemotherapy every other week for the past two years, holding his little Maisie, was extra poignant.

Because Eamon does not know if he will live long enough to see his beautiful little girl grow up.

Eamon, 35, is being treated for bowel cancer. “When I held Maisie in my arms, I knew every battle had been worth it,” he says.

“I’m certain positive thinking and living for a future have kept me alive.

“I don’t want to know how long I’ve got, because I refuse to give up on life.”

Eamon’s wife Kate agrees. “We don’t talk about the sad stuff. Eamon is so strong, we just try to enjoy the time we have together and do nice things as a family.”

His diagnosis in July 2007 turned their world on its head. Eamon had started feeling ill on a flight home from Cyprus, but his only symptom was frequent toilet visits.

Until then he’d been fit and healthy. But within days his doctor referred him to hospital for bowel tests.

Kate, 28, says: “I was called in from the waiting room to be with Eamon. The consultant told us he was fairly sure it was bowel cancer.

“That moment our lives changed.”

A week later bowel cancer was confirmed, and subsequent scans revealed the tumour had spread to his lymph nodes, carrying rogue cells to his liver and his lungs.

Eamon says: “I decided to remain positive.

“When I was told it was cancer, I thought: ‘I can beat this.’ Then when I was told it was terminal, I thought: ‘Well, I will live as long as I possibly can’.”

Eamon didn’t want to know the prognosis.

He says: “If they had given me a date, I’d have seen it as a death sentence. I decided I’d rather not know so it wouldn’t put limitations on me or our life. Instead, I chose to take one day at a time.”

The news of Eamon’s illness had so many implications, not least his loss of fertility. So when the nurse asked straight after diagnosis if they wanted to freeze some of Eamon’s sperm, they immediately agreed.

Kate says: “I’m so grateful to that nurse because if she hadn’t asked that question, we wouldn’t have thought about it. Even though Eamon had a terminal diagnosis, we’d always planned to have children – it was at top of our list – and his cancer didn’t change that. We had already started trying.”

The couple had been planning to marry a year later but brought the wedding forward to August 2007, five weeks after Eamon’s diagnosis and two weeks after he started chemotherapy.

By then he had also provided the sperm which they hoped would allow them to start a family.

Kate, a part-time trainer, recalls: “It was a fantastic day of celebration.”

There was no honeymoon because Eamon needed chemo the day after the wedding.

As his treatment continued, the couple waited to find out whether they would be allowed to have IVF on the NHS.

A month after the wedding they went to the Queen’s Medical Centre in Nottingham for tests, and were referred under the NHS for proposed IVF treatment at the CARE Fertility Group in Nottingham. The couple had to have counselling, and their case had to be reviewed because of Eamon’s terminal diagnosis.

“It wasn’t until the following March that we finally got the go-ahead,” says Kate. Fertility treatment started in May 2008 when 12 eggs were removed from Kate, then two were injected with Eamon’s sperm to fertilise them and re-implanted.

Two weeks later the home pregnancy test was positive.

“We were in shock. I hadn’t dared to get my hopes up, but it was a dream come true,” recalls Kate.

Eamon adds: “We couldn’t believe there was good news after so much bad news. We were almost panicky with excitement!”

Kate did three pregnancy tests just to be sure – a scan confirmed everything was fine, and Eamon continued with fortnightly chemotherapy.

“Knowing Kate was pregnant kept me going,” he says.

Another high for soccer-mad Eamon was meeting the England football team last year thanks to the Willow Foundation charity, which provides morale-boosting experiences for people with life-threatening conditions.

But even that was no match for the joy of seeing his daughter Maisie Elizabeth born at the Royal Derby Hospital on May 17 this year.

Sadly Eamon was taken to hospital the next day after a bad reaction to the anti-cancer medication he was taking.

“That was a low point,’ says Kate.

“I’d just been allowed home with our new baby but Eamon wasn’t with me – he was being admitted to hospital as I was leaving.”

Support from friends and family kept the couple going, and a change in Eamon’s medication meant he was home with his wife and newborn daughter the following day.

Eamon is still having chemo but now has treatment at home in Derby to be with his wife and daughter.

“I will have a scan in November to see if the chemo is working. If it is, we would love to try for baby number two,” he reveals.

“I know some people will say I’ve brought a baby into the world who might end up without a father, but what’s important is that Maisie knows her father loved her very much.

“It upsets me to think I won’t see her grow up, but we take lots of photos and videos so she has memories of me.

I do think about how Kate will cope when I’m not here but that’s one reason we would like to have another child, so Maisie has a brother or sister. I spend all my time with her so we can build memories of our time together.”

Eamon, who is off sick from his job as a team leader, has signed legal documents giving Kate consent to use his sperm after his death, but she tries not to think about life without him.

“We never talk about how long Eamon has. We stay positive for each other and try to live life to the full.”

Eamon remains positive too. “Every day I wake up and tell myself I’m going to fight this, and everything’s going to be all right. I don’t feel sorry for myself.

“These are the cards I’ve been dealt so I get on with life rather than spend my days thinking about death.

“I consider myself lucky – I’ve met the girl of my dreams, and we have the most beautiful daughter.

“Every day I get to spend with my girls makes my life all the more precious.”

Dr George Ndukwe, medical director of CARE in Nottingham where the couple had IVF, said: “We are delighted to have helped Kate and Eamon. They have been through so much and we wish them all the best.”

Women denied NHS fertility treatment because 'they cannot carry child themselves'

Women have criticized the situation saying only a 'quirk of nature' means they cannot carry their own child and if they were suffering from a different fertility problem the NHS would fund treatment.

Guidance on NHS funding for fertility treatment has been interpreted differently around the country meaning that in some places women who cannot carry their own child are funded but in others places they are not.

In many areas primary care trusts refuse to fund IVF because the resulting embryo would be implanted in the womb of a surrogate, even though the patients are willing to fund the surrogacy costs themselves.

The guidance from the National Institute for health and Clinical Excellence states that where the reason for infertility is known patients should be fast-tracked for NHS funded treatment but it goes on to say surrogacy lies outside the remit of the guidance.

This is what primary care trusts are using to justify refusing to fund IVF treatment for women who would require the services of a surrogate.

Sabreena Mahroof, of Surrogacy UK, said in around 80 per cent of cases IVF treatment must be pad for privately because primary care trusts have refused NHS funding. But some areas will fund the IVF part of the process leaving patients to pay the surrogacy fees.

She said: "It all depends on the primary care trust. There is a real postcode lottery here. We had hoped the new Human Fertilization and Embryology Act would clarify this situation but it has not.

"It is a real nonsense. These women are being discriminated against because they do not have a womb. Cost-wise it is no different to funding an IVF cycle where the embryo is implanted back into the same woman.

"No one is asking the NHS to fund the pregnancy expenses of the surrogate, that would be unfair.

"It is not fair that only the wealthy who can afford private IVF who can use a surrogate."

Tracey Davey, 40, from Fareham in Hampshire, has been trying to have a baby with her husband Terry, 48, for the last 12 years. She was born without a womb but produces eggs normally.

The couple have repeated been turned down for NHS funding for IVF treatment, been through appeals and have even attempted to adopt.

Eventually the couple remortgaged their home, spending £18,000 on private treatment, undergoing two cycles of IVF treatment.

Last year an embryo was implanted in a surrogate mother only for the pregnancy to fail.

The couple cannot afford to fund another cycle of treatment themselves and time is running out as a woman's age is a significant factor in IVF success.

Mrs Davey, a bank cashier, said: "I have been fighting this for the last 12 years and am angry at the way I have been treated. I did not ask to be born this way and is there was something else wrong with me my treatment would be funded.

"There are dozens of young girls in my situation and I hate to think that they will face the same thing as us.

"I feel they have put my life on hold. I was told that I could not have children when I was 16 but then in 1989 a woman became the first surrogate mother in the UK and that gave me hope. I cannot give up."

Clare Lewis, of Jones of Infertility Network UK said: “Surrogacy is a necessary treatment for those whose only chance of having a family is by this method.

"We are aware that many primary care trusts don’t fund surrogacy, probably because of concerns of legal ramifications and we would suggest that national guidance on this issue would be welcomed by the PCTs to eliminate such concerns and allow patients to access the treatment they need to have the family they so badly want.”

Dr Stuart Ward, clinical director of NHS Hampshire said: “We will fund one cycle of IVF for patients who meet the eligibility criteria. However, due to the complex legal and ethical complications that can arise with surrogacy we are unable to support fertility treatment through this route.

“If a consultant or GP feels that their patient has exceptional circumstances and should be considered for IVF treatment, even though they don’t meet the criteria, they can ask for the case to be considered through the PCT’s special referrals process.”

Current rules mean surrogate mothers can decide legally to keep the child, meaning many people still see the issue as fraught with controversy.

Around 50 successful surrogacies occur each year in Britain.