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UK’s first Family Information Day for rare kidney and liver disease

News   •   Jun 29, 2012 13:49 BST

Families and clinicians gather at Birmingham Children's Hospital for first UK information day about rare liver and kidney condition

Children’s liver and kidney specialists from around the country will gather for the UK’s first information day for families of children with ARPKD (Autosomal recessive polycystic kidney disease), a rare condition that affects less than 1 in 10,000 children.

Children with ARPKD may eventually require a combined liver and kidney transplant and Birmingham Children’s Hospital is the only hospital in the UK to offer this double transplant.

Dr Kerecuk is a specialist in ARPKD and has been instrumental in organising the event on Saturday 30 June between 10am – 4.30pm. Because the disease is so rare, clinicians are coming from all over the country to learn more about it. There will be a keynote speech from Professor Lisa Guay-Woodford from the USA, stories from families and presentations from specialists at the hospital.

Dr Kerecuk said: “ARPKD affects both the liver and kidneys. It causes cysts to appear in the tubes that produce and transport urine (kidney) and bile (liver). This leads to scarring, and eventually the healthy tissue of the affected organs will be destroyed and can lead to kidney and liver failure.”

Tim and Natalie Raine from Cradley Heath in the West Midlands will be attending the event. They know only too well how life threatening ARPKD can be as two of their five children were diagnosed with it soon after their birth.

Natalie was 38 weeks pregnant with her first child, when she became concerned that the baby didn’t seem to be moving. A scan revealed that there was barely any fluid around the baby and her kidneys were enlarged. Her baby, Nicole, was induced that day and despite appearing to be well and able to return home with her family, doctors knew she would need to be referred for specialist care. Nicole was referred to Birmingham Children’s Hospital at six weeks old with a hernia and admitted for tests because of her high blood pressure. This was the first of many stays in hospital for Nicole who was diagnosed with ARPKD, after a scan revealed the cysts in her kidneys with more cysts in her enlarged liver.

Tim and Natalie were told that Nicole would definitely need a kidney transplant but because she was getting so many liver infections, it was decided to carry out a combined transplant. Nicole was seven years old when this took place and she is now 10 years old, with good liver and kidney function.

When Natalie was pregnant with her fourth child Lola, a scan at 12 weeks revealed Lola also had problems with her kidneys. This led to a series of regular scans and foetal ECG’s but Natalie reveals that she wasn’t surprised when Lola’s problem was picked up.

She says: “I had a feeling early on in the pregnancy that something wasn’t quite right. It’s difficult to explain, but I think I just knew that Lola was going to have the same problems as Nicole.”

“This time we were more prepared for Lola’s illness. We had learnt so much from Nicole’s experiences, we knew what to expect. As a result, Lola spent a lot less time in hospital than Nicole.”

Lola is now five years old and is on the waiting list for a kidney and liver transplant whilst being closely monitored by her consultant, Paediatric Nephrologist Dr Sally Hulton, as well as the renal consultant team, including Dr Kerecuk.

Nicole and Lola have three siblings who have been unaffected by the recessive gene that causes ARPKD, Taylor (8), Molly (6) and Lacey (2). Tim and Natalie know how rare the condition is and are fully supportive of Dr Kerecuk and the work Birmingham Children’s Hospital team of expert staff does to save the lives of children like Nicole and Lola. The whole family will be attending on the day too to learn more about the disease and meet other families like themselves.

Natalie says: “It can be very isolating and scary when your child is first diagnosed. We were kept so busy when Nicole was poorly that we didn’t have a lot of time to worry, we just had to get on with it. When you look it up on the internet too it’s very frightening as there is such a lot of information out there about it. We found it much more helpful to get information from doctors, which is why these information days are so important. Not only for those families going through it now but also those who will go through it in the future.”

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