PKU patients’ difficulties compounded by poverty, bureaucracy

Turkey has the highest rate of PKU incidence in the world. About 400-500 babies are born with the genetic disorder each year in Turkey, where one in every 20 people is a carrier of the defective gene on the 12th chromosome that results in PKU. Those who inherit the PKU gene from both of their parents cannot consume milk or dairy products, yogurt, eggs, meat or meat products, bread, nuts, legumes or any foods made with a combination of the those products. They can eat fruits, vegetables, olives, honey and margarine only in limited, carefully measured amounts and should take a tyrosine supplement daily. Failure to adhere to this lifetime diet can lead to severe mental retardation in children, and in adults who stuck to the diet as children but later abandon it uncontrolled PKU can lead to a variety of problems, notably mental disability (affects 41 percent of PKU adults off-diet).

The diet can be particularly difficult to regulate in children, and parents of PKU children in Turkey face an array of difficulties in feeding their children and keeping them away from the many foods that can harm them. Sunday’s Zaman spoke with a group of parents of PKU children who shared their trials and tribulations in providing for children with an illness in a country with very few resources available to help.

The number-one problem in treating PKU in Turkey is the lack of protein-free products that those affected by the disorder can safely eat, Fatma Özyurt, the president of the İstanbul-based PKU Solidarity and Aid Association, told Sunday’s Zaman. She found out a week after giving birth to 7-year-old Nehir that the infant had PKU and began the treatment immediately, avoiding any mental or physical damage. In Europe, Canada and the US, Özyurt explained, where the incidence of PKU is much lower than in Turkey, there are an average of over 60 protein-free substitute food products available to provide the basic nutritional needs for those who cannot digest protein. In Turkey, which leads the world in PKU incidence, the number of equivalent products is only three.

“The İstanbul Public Bread Corporation [İHE] makes flour and a bread free of protein, while supplements are available at pharmacies,” Özyurt explained. “Other than this, there isn’t a single product in Turkey that our children can eat. The constant worry of a parent with a PKU child is how they’ll fill their child’s stomach. What are we supposed to put on the table? Children see their peers eating different things: chocolate, cakes and ice cream, especially in the summer months. In Europe there are cheeses, chocolates, all kinds of products that PKU individuals can eat, but we have to import them here -- which is too expensive for most.”

The association has tried to get other food product companies to produce products that are protein free, but to no avail. “They only think in commercial terms and refuse to produce anything to help us,” Özyurt said.

‘We’ve been struggling for 2 years with İstanbul’s bureaucracy’

The PKU Solidarity and Aid Association -- founded in 2005 and run by volunteers -- does its best to provide support to families struggling with PKU, especially parents with young children who have the illness. They work with a nearby hospital to provide post-diagnosis counseling and support to families who have just found out about PKU and also try to provide support to poor families to ensure that they can obtain the most basic of food items -- which are very expensive -- for their children.

Once a month a group of mostly mothers gathers for “Kitchen Day,” where parents exchange recipes for making bread, cookies and other foods from the special-made PKU flour and teach parents newly acquainted with the disorder how to cope with PKU. Sunday’s Zaman attended one such gathering this month and spoke with association member Hasibe Kılıç as she showed other mothers how to make a batch of PKU-safe cookies. “The foods are far too expensive for most families to afford,” she explained as she kneaded dough. Her daughter is in sixth grade and was diagnosed within the first week after her birth. Kılıç implemented a strict diet, and her daughter is healthy and doing well in school because of it.

“One kilogram of [PKU-safe] flour costs YTL 13, and this cost rises to YTL 20 when you include import fees. A container of egg substitute costs YTL 20, YTL 40 because it’s imported. A pack of pasta is YTL 15 for 500 mg. PKU is an expensive illness, so to speak,” Kılıç explained. “It’s possible to import a wider variety of products, but the costs go up even higher than the basics, and many families never buy anything special because they know they can’t afford for their child to eat special cheeses or chocolate.”

On paper, people with PKU covered by the Social Security Authority (SSK) are exempt from 20 percent of the costs of basic products (like PKU-safe flour) available at pharmacies. There are no problems with procuring these products under this arrangement in Ankara or İzmir, and between 1998 and 2006 there were no problem in İstanbul, either. “We don’t know what happened -- we have the right to these products, but the items suddenly weren’t listed in their computer systems. For the past two years we’ve had this problem, and we’ve addressed the İstanbul health directorate authorities numerous times, but they have done nothing. They direct us to Ankara, which redirects us to İstanbul, saying the problem is out of their jurisdiction,” Özyurt said.

Support system needed to improve diagnosis notification

Another of the women at the gathering asked to be identified only as Fatma and has a daughter with PKU. But Fatma didn’t find out that the infant had the disorder in time to prevent irreversible damage. Despite the routine blood screening after birth -- PKU has been part of the required blood screening for newborns in Turkey since 1993 -- Fatma’s daughter was not diagnosed until 6 months of age. That stage might be considered early detection for other diseases, but it is far too late for victims of PKU, and Fatma’s baby had already missed many critical developmental milestones. Now aged 7, Fatma’s daughter has only recently learned to speak a few basic words and use the toilet unassisted. “She was such a bright baby. So aware of everything around her, everything caught her attention and captivated her. She was so healthy then. She was going to be an amazing child,” the mother lamented. She has implemented the PKU diet strictly since the diagnosis to prevent further harm to her child.

In order to prevent irreversible physical and mental damage, it is ideal for the PKU diagnosis and treatment to start within the first 20 days after birth. However, as the PKU president explained, dealing with the PKU problem is not as easy as diagnosis: “Some families, even though they get the notification call from the hospital and the treatment diet is explained to them, refuse to comply with the treatment. This happened recently when a hospital informed a family that their child had PKU and put them into contact with our association. We tried and tried to convince them to start their baby on the diet, but they just wouldn’t believe that the illness needed to be taken seriously, because they’d never heard of it before. We tried our best, but they wouldn’t listen and refuse to treat their child,” Özyurt explained.

For the poorest of families dealing with PKU, the treatment does not extend beyond the realm of the theoretical. Especially in Turkey’s poverty-stricken East and Southeast, Özyurt noted, families plagued by poverty sometimes started the treatment and then discontinued it or never began it at all because of the extraordinary cost associated with the dietary products it required. These families have no choice but to painfully watch their children’s development proceed abnormally slowly and instead care for a developmentally delayed child and later adult, all the while knowing that a treatment exists but is forever out of reach.