The couple underwent a procedure in an attempt to ensure that their unborn child will not suffer from mucolipidosis, a disease which sees many sufferers not survive past childhood.

The couple, who were treated at the Waterstone Clinic – one of only two fertility centres in Ireland licensed to carry out PGD – have a daughter with the rare disease, mucolipidosis. This is an inherited metabolic disorder which results in growth stopping around the age of two.

Most of those affected do not live beyond early childhood.

In this case, the couple are both carriers of a mutation affecting the mucolipidosis gene. Without PGD, they had a one-in-four chance of having another baby with the condition.

PGD involves one extra step within the IVF (in vitro fertililisation) process. With IVF, a woman’s eggs are fertilised with sperm outside the body in a test tube and then placed back inside her womb. With PGD, following egg collection, these eggs are fertilised to produce pre-implantation embryos, which are cultured and monitored for progression.

After five days, embryos which appear to be developing normally are biopsied, which involves the removal of several cells. These cells are then analysed for specific genetic abnormalities before the embryo is transferred into the womb. Embryos that are free from a specific disorder are considered safe to be used.

At the Waterstone Clinic, PGD is only available to people at risk of passing on certain life-limiting and debilitating conditions. These include cystic fibrosis, muscular dystrophy and fragile X syndrome.

In this case, doctors used PGD with a new technique known as karyomapping, and the couple in question are now expecting a child next month who will not be affected by mucolipidosis.

Karyomapping is a technique that has ‘transformed the field of PGD due to its rapid and robust method of detecting a wide range of genetic diseases in embryos’, the Waterstone Clinic said.

This is the first reported case in the world where PGD with karyomapping has been used in the case of mucolipidosis.

“The success of our PGD programme has been really encouraging. Until very recently, couples had to travel abroad for PGD, adding stress and expense to an already demanding process. We are delighted to say that one of our couples is expecting a baby unaffected by mucolipidosis, which the couple were at high risk of transmitting,” commented Dr John Waterstone, medical director at the Waterstone Clinic.

Last July, Lisa Cooke and Patrick Mullane from Cork became the first couple to have a baby born as a result of PGD carried out in Ireland. They underwent PGD at the Waterstone Clinic to try to prevent their child from inheriting cystic fibrosis. Their baby, who does not have cystic fibrosis, is now eight months old.

Since then, almost 70% of couples who have undergone PGD at the Cork centre have become pregnant.

“This is a very promising success rate for this highly complex IVF treatment. We hope that these couples will be the first of many to avoid passing on inherited conditions as a result of PGD,” Dr Waterstone said.

The news was welcomed by Anne Lawlor of the Genetic and Rare Disorders Organisation ahead of Rare Diseases Day (February 28).

“An estimated 300,000 Irish people will be affected by a rare disease in their lifetime, 80% of which are genetic in origin. Progress in medical research is resulting in more options becoming available, allowing those with genetic conditions in their families to make informed decisions on future healthcare options, both for themselves and for their families,” she said.

[Posted: Mon 23/02/2015 by Deborah Condon www.irishhealth.com]

http://www.irishhealth.com/article.html?id=24432

Waterstone Clinic announced that an Irish couple, whose daughter has the rare genetic disease mucolipidosis, are expecting a baby unaffected by the life limiting condition as a result of pre-implantation genetic diagnosis (PGD). It is the first reported incidence in the world of successful PGD with karyomapping in the case of mucolipidosis. Karyomapping is a new technique that has transformed the field of PDG due to its rapid and robust method of detecting a wide range of genetic diseases in embryos.

The ground-breaking news comes in advance of Rare Diseases Day, which takes place on February 28^th. The baby’s parents are both carriers of a mutation affecting the mucolipidosis gene, and without PGD, had a one-in-four chance of having a baby affected by the condition. The couple are due to deliver their baby in March.

Waterstone Clinic is one of only two clinics in Ireland licensed to carry out PGD, and the only clinic in the country to have had a successful PGD birth. PGD diagnoses genetic conditions before pregnancy, enabling couples who are known to be at risk of a specific condition to avoid passing it onto their children. The genetic disorders they test for include cystic fibrosis, muscular dystrophy, fragile X syndrome, myotonic dystrophy and a large number of other single gene disorders, which are rare individually but significant in aggregate.

Speaking about the announcement, Anne Lawlor, Information and Development Officer with the Genetic and Rare Disorders Organisation (GRDO) commented that the GRDO has been following the story of PGD in Ireland with interest.

“An estimated 300,000 Irish people will be affected by a rare disease in their lifetime, 80% of which are genetic in origin. Progress in medical research is resulting in more options becoming available, allowing those with genetic conditions in their families to make informed decisions on future healthcare options, both for themselves and for their families,” Ms Lawlor said.

Last July, Cork couple Patrick Mullane and Lisa Cooke became the first couple to have a baby born as a result of PGD carried out in Ireland. The couple availed of PGD at Waterstone Clinic to prevent their child from inheriting cystic fibrosis. Their baby, Bridget, is now eight months old, free from cystic fibrosis, and thriving.

Speaking about PGD, Dr John Waterstone, Medical Director at Waterstone Clinic, said:

“The success of our PGD programme has been really encouraging. Until very recently, couples had to travel abroad for PGD, adding stress and expense to an already demanding process. In the lead up to Rare Disease Day, we are delighted to say that one of our couples is expecting a baby unaffected by mucolipidosis, which the couple were at high risk of transmitting.”

Mucolipidosis is a rare inherited metabolic disorder where growth usually stops before a child is two. Most people who are born with mucolipidosis do not survive past early childhood.

“Almost 70% of the couples who have had an embryo transfer after PGD at Waterstone Clinic have become pregnant; this is a very promising success rate for this highly complex IVF treatment. We hope that these couples will be the first of many to avoid passing on inherited conditions as a result of PGD,” Dr Waterstone added.

At Waterstone Clinic, PGD is only available to people at risk of passing on certain life-limiting and debilitating conditions. The HPRA has licensed Waterstone Clinic to carry out embryo biopsy for PGD and the genetic analysis required is carried out by Reprogenetics UK, a global genetics laboratory which specialises in PGD and pre-implantation genetic screening (PGS).

Welcoming the news of the successful pregnancy, Professor Dagan Wells, director of Reprogenetics UK, commented:

“This is a great illustration of Waterstone Clinic’s role as a leader in the field of IVF, highlighting the capacity of the clinic to offer its patients truly cutting edge technology.”

Since this scheme was first rolled out in 2010, a total of 70 fertility grants have been awarded to members.

How much funding is available?

The value of the grant for first-time applicants is €3,000. The value of the grant for second-time applicants is €2,000. Applicants can now apply a third time to this scheme. This decision was made in response to feedback from PWCF. The value of the grant for third-time applicants is €1,000.

How do I apply?

A Fertility Grant Application form and supporting documentation from you CF Consultant and the fertility clinic you plan on attending must be sent to the CFI National Office by a particular deadline. Members are advised to read the fertility grant guidelines in advance of applying for this grant.

What is the deadline for all applications?

The deadline for submitting the application form and supporting documentation is Friday 6th November 2015.

Application forms and further information is available on Cystic Fibrosis Irelands website:

https://www.cfireland.ie/index.php/fertility-grant-scheme

 

Many may not wish family and friends to know about their problems and so find dealing with the subject of starting a family difficult and isolating.

Men and women tend to have different emotional responses to conception difficulties, and it’s not unusual for tensions to arise due to lack of discussion. Sadness and loss may also be experienced and sexual relationships may become temporarily strained as the spontaneity of intercourse can be affected.

CFC offers many treatment options to couples who may be experiencing fertility difficulties. While staff at the centre are available to guide and support patients through every step of their treatment, a professional counsellor plays an important role in facilitating and supporting couples through the stresses and emotions experienced.

An independent counselling service is available free of charge at Waterstone Clinic. Anyone can avail of this service at any point before, during or after treatment. Counselling is mandatory in certain circumstances, such as with donor sperm or egg treatment.

What does the counselling service offer?

• The opportunity to explore how fertility difficulties have affected you
• An opportunity to explore treatment options and alternative choices with a non-medical professional
• A confidential and neutral place to tease out the implications of donor conception
• Emotional support at times when you may be angry, upset, worried or sad

Appointments can be made by contacting reception on 021-4865764

What can we do to care for our relationship?

Communicate

Communication means talking to your partner. It is very important to talk openly about any fears or worries you might have.

Discuss your fears

If you are having difficulties becoming pregnant you may have many fears such as not becoming pregnant, financial worries or fears that your relationship will break down. This is especially important for the partner who has the infertility diagnosis.  Open and honest conversations can help clear the air and provide reassurance for you both.

Listen as well as talk

You and your partner may have differing ideas on the best options for treatment. If treatment is unsuccessful, making the decision to stop treatment can cause lots of tension. Sometimes, one partner would like to explore all avenues of treatment, whilst their partner might wish to stop treatment altogether.

Although you need to talk to your partner about your feelings, it is just as important to listen to what they have to say. Try not to become defensive if they say something you would rather not hear. Their opinion is as important as yours.

Do not let fertility take over

Although it is important to talk about your feelings, try not to have every conversation revolve around becoming pregnant. Make a conscious decision to talk about other things happening in your lives.  If it helps, set aside a specific period of time each day to talk about fertility issues and for the rest of the day talk about other things which are important to you both.

Remember: Responsibility for open communication in a relationship is shared by both partners.

Keep sex fun

Many couples feel pressure to have regular sex when trying to become pregnant. Timing sex around ovulation can take away spontaneity that many people find enjoyable. There is a danger that sex can become a job to be done rather than an enjoyable experience between two people. Many couples feel they are expected to ‘perform on demand’. This can lead to tension within relationships. This sexual pressure can cause sexual problems. You and your partner may have difficulty becoming aroused. The male partner may have difficulties getting an erection and may be unable to achieve orgasm. Many couples report dissatisfaction with their sexual lives.

It is important to keep the romance alive by going on regular ‘dates’ and spending time together that does not revolve around trying for a baby. Try to have sex for fun rather than sex to become pregnant. This is particularly true for the time after ovulation where chances of becoming pregnant decrease considerably.

Don’t be afraid to seek help

Sometimes it is necessary to seek professional help. Speaking to a counsellor can help you and your partner cope with relationship concerns. Here at the Waterstone Clinic it is a requirement for all couples to undergo one counselling session before beginning fertility treatment. However our counsellor is available to you at any stage during the process. This service is provided free of charge. Discussing your concerns in an open, supportive environment can help overcome worries you might have. Bringing issues into the open can clear the air and help find solutions. Please contact (021) 4865764 to make an appointment.

There is no doubt that infertility challenges the strongest of relationships. Giving extra care and attention to your relationship at this time is essential.

• If you are overweight, have an overall target of losing 5-10% of your body weight
• Set a realistic goal: aim to lose 1 – 2lb per week
• Eat breakfast each day
• Make a fruit salad in the morning and keep in the fridge to snack on throughout the day
• Monitor portion sizes by using a smaller plate (such as a salad plate)
• Eat slowly
• If you feel hungry drink cold water
• Avoid situations where you will be tempted to over-eat
• If you are planning to eat out in a restaurant make sure you visit the website www.weigh2livesafefood.eu. This informative website provides a list of ‘healthy’ foods they recommend to order in a variety of restaurants such as Chinese, Italian and Japanese
• Have a small snack an hour or two before you go out for dinner so as you won’t be over-hungry and over-eat when you get to the restaurant
• Make sure you have at least 5 portions of fruit and vegetables a day.  These are an important source of antioxidants which are known to improve the fertility of men and women
• Replace full fat products with low fat alternative such as low fat milk, butter and cheese.  Replace fizzy drinks with diet fizzy drinks. Change from white bread and rice to wholemeal/ brown bread and rice
• Never go grocery shopping hungry and always bring a shopping list with you
• You should also consider keeping a food diary.  Recording everything you eat each day can help you to monitor what you eat.  Make sure you fill it out each day!
• Exercise regularly; all adults should be doing at least 30 minutes of moderate intensity exercise 5 time per week. However this may need to be increased up to 60 – 75 minutes a day to lose weight
• Walk or cycle instead of using other forms of transport
• Take the stairs instead of lifts
• If you are joining a slimming club make sure their principles are based on healthy eating and do not expect you to lose more than 1 – 2lbs per week.

Losing weight and getting healthy takes serious commitment and determination.  For more information on managing your weight and getting healthy visit;

http://weigh2live.safefood.eu

www.getirelandactive.ie

Adding these five foods to shopping cart can help you to pivot away from heavily processed food choices, and find your path to optimal health, and perhaps, increased fertility.

Walnuts
Fertility discussions usually focus on women’s aging ovaries, but we all know it takes two to tango. And research suggests that for men, a couple of handfuls of walnuts every day may be the ticket to stronger, faster, even prettier sperm. The study printed in the journal Biology of Reproduction looked at the effect of added polyunsaturated fatty acids on the sperm health of 117 healthy men aged 21 to 35. Sure enough, those that ate 75 grams of Omega-3 rich walnuts (about 2/3 cup, or 2 man handfuls) experienced improvement in sperm vitality, motility, and morphology. The nut-free control group experienced no changes. Most of us, men and women, can benefit from additional Omega 3s, so consider making walnuts a staple on your weekly grocery list.

Ice Cream
Ladies, you can now add “reproductive health” to the list of reasons you need to keep the freezer stocked with ice cream. A study published in the journal Human Reproduction suggests full-fat dairy may increase a woman’s chances of ovulating. Researchers found that women enjoying a scoop of full-fat ice cream at least twice a week had a 38 percent lower risk of anovulatory infertility compared with women consuming ice cream less than once a week. Low-fat dairy, on the other hand, had the opposite effect. The results may seem to contradict standard nutritional advice, but researchers suggest skimming the fat from dairy alters its balance of sex hormones in a way that could tip the scales against ovulation. While more research is required into the relationship between dairy and fertility, you can check out a list of some of my favorite full-fat, minimally processed ice cream brands in “Eat It to Beat It.”

Carrots
A study by Harvard researchers printed in the journal Fertility and Sterility found that produce rich in beta-carotene can improve sperm motility (its ability to swim toward an egg) by up to 8 percent. Carrots were singled out for their sperm-boosting properties. Luteine, an antioxidant found in leafy greens, had a similar effect, according to the study. So make like Bugs Bunny and get snacking. When it comes to male fertility, that’s what’s up, doc!

Lentils
An inexpensive form of vegetarian protein and fiber, lentils are also a rich source of iron, a mineral known to play a key role in reproductive health. In a well-cited Harvard School of Health study, women who got most of their iron from plant sources reduced their risk of infertility by 40 percent. Moreover, the higher the dose of the iron supplements, the lower the risk. Women who took the highest doses, more than 41 milligrams a day, reduced their risk of ovulatory infertility by 62 percent. Iron from meat didn’t show the same benefits. While researchers don’t recommend popping iron supplements as an aid to becoming pregnant, supplementing a well-balanced diet with a whole-food multivitamin may improve your overall health and, consequently, your baby-making prospects.

Spinach
Get the man in your life to start channeling Popeye, and you may soon have a baby on board. A study published in the journal Fertility and Sterility found that supplemental folic acid and zinc to increase sperm counts in men with reduced fertility. You can find sperm-boosting folic acid, the B9 vitamin, in leafy greens like spinach and kale. And lentils are a good source of zinc; one more reason to add them to your shopping list!

Dave Zinczenko, ABC News nutrition and wellness editor, is a New York Times No. 1 bestselling author. His latest book, “Eat It to Beat It!” is full of food swaps, meal plans and the latest food controversies.

1. Ease back on the Nespressos – scientific studies vary in their conclusions and it’s difficult to separate caffeine intake from other lifestyle factors but some research suggests too much caffeine can reduce sperm count. Don’t forget the caffeine in fizzy drinks and when ordering from the big coffee chains ask for one shot, not two.

2. Stay out of the sauna. Extreme heat is very bad for sperm and if you sit cooking them in a sauna they will be collapsing left, right and centre. Hot baths are also a no-no, though showers are OK. The good news though, if you have been indulging in spa facilities recently, is that sperm count will usually return to normal within about 3 months.

3. Cut back on the booze –  One large study published in 2009 found that couples who shared one bottle of wine a week were 25% less likely to be successful at IVF.

3. Eat well – breakfast, lunch and dinner, all to contain some protein to help balance blood sugar throughout the day, plenty of leafy green veg, not too much sugar etc – you know the drill. You don’t have to deny yourself the treats you love but eat more of the good stuff and the rubbish will be crowded out.

4. Don’t use a laptop on your lap. There is the heat generated by the computer itself which is directed straight at the testicles but also the knees together position used to balance the laptop has an effect. It takes only 20 minutes of sitting with the knees together for the testicular temperature to rise to a level that adversely affects sperm.

5. Drink plenty of water. Semen is 98% water. If you’re a bit dehydrated your body directs what water it has to your heart, your brain, your liver, your lungs – the major organs – and your reproductive system is way down the pecking order. Aim for 1.5 to 2 litres a day.

6. Take your mobile phone out of your trouser pocket. Further research in this area is needed but initial evidence suggests that men who carried their mobile phones in their trouser pockets had reduced motility and sperm count. Put it in your jacket pocket instead and store it off your body altogether whenever you can.

7. Ejaculate regularly. It does no good to store up sperm and in fact the more you ejaculate the more you stimulate the testes to produce new, young, fit, healthy sperm which are more likely to be capable of fertilisation.