PKAN (Pantothenate Kinase-Associated Neurodegeneration) is a hereditory disorder that is categorised in the group of distinct rare disorders featured by an accumalation of iron in the brain; NBIA (Neurodegeneration with Brain Iron Accumulation). PKAN is the most common type of NBIA.
PKAN is perceived at a very young age. At this point in time, there is no treatment available for this extremely serious disease. Patients with the “classic” and most serious type of PKAN often do not surpass the age of approximately 15 years old. The disease discloses itself in the first 10 years, with the first symptons generally visible at around 3.5 years old. These children may initially be perceived as clumsy and later develop more noticeable problems with walking and lack of overall development.
Many individuals with the classic form of PKAN lose the ability to move or walk independently between 10 and 15 years after the initial indication of symptoms and will therefore require a wheelchair by their mid-teens. Also by this time they may have enough trouble with chewing and swallowing that a feeding tube becomes necessary.
Children with PKAN suffer – in the later stages of the disease – continuous pain and their body is constantly in a completely cramped position. The muscle tension that is caused by the cramping is so severe, that it regularly happens that without falling or bumping themselves, it results in the breaking of bones in their arms or legs. The children are restless, and show muscle cramping and Parkinson-type symptons. They often loose the ability to walk, to talk, to swallow and their vision. All this while they are often in a full state of awareness as the mental ability of children suffering from PKAN is not always affected. The disease is extremely stressful for both the patients and their caregivers. It is progressive and will ultimately result in the patient’s death at a young age.
Today there is no cure available, but there is one that is being worked on!
PKAN in the Netherlands
PKAN is a rare disease, that affects one in a million children. The parents of Gwen, one of these children, have tried to put their emotions about the disease into words about the after receiving its earth-shattering diagnosis.
“On the 4th of October 2013, after a long search with various marks and many missing pieces of a puzzle, we finally received the true diagnosis that Gwen has the serious, and very rare, metabolic disease NBIA for which there is no medication. From one moment to the next our, until then relatively careless, life transformed into a life of constant worries.Halfway through the day we were invited into the consulting room of the clinical geneticist and child neurologist in Nijmegen and we were informed that they had some bad news. Gwen has the serious, and very rare, metabolic disease NBIA for which there is no cure available. Completely devastated the three of us stayed behind in the room and fell into each other’s arms in tears. An incurable metabolic disease….. We actually didn’t even really know what that meant. In the car on the way home we started looking it up on the internet and what we saw there hit us like a bombshell. The beautiful future we had envisioned for Gwen vanished into thin air. We were all shattered to pieces and didn’t know how we were ever going to continue from there.Our daughter Gwen has a metabolic disorder. When we mention that to people, there are usually no immediate alarm bells ringing. Imagine that your child has a disease in which everything possible can eventually go wrong. A disease in which the chance that your child will not reach adulthood is greater than the chance that she actually will. A disease that causes you child to be exhausted, to have pain, to become blind, to become deaf, to be mentally and/or physically handicapped, to have kidney failure, to have heart failure, cannot eat, cannot play, cannot lead a normal life in everyday life, to become spas tic, and can end up in a vegative state…. You name it. Imagine that? Wouldn’t that simply drive you crazy? Wouldn’t that keep you from falling asleep? Wouldn’t you be in constant fear of what lies ahead? Wouldn’t you find it terrible in such a situation that so few people actually know what this disease is about? And wouldn’t you want to tell everyone that today there is no medication for this?
“Wouldn’t you want to tell everyone that today there is no medication for this?” This is what Gwen’s parents already wrote back in 2013 in their pure desperation. Rightly so, because there is no cure against PKAN. Not yet. Hopefully this will soon change. In this brochure you will read how, together with your support, we can jointly take the final steps to fight against PKAN.
Current state of affairs
PKAN is (still) untreatable. But after years of research there is hope. It is not an issue ‘whether’ there is an effective treatment, but ‘when’ it is available for all children with PKAN. The aim of the foundation is, among other things, the financial support of research aimed at finding a cure for metabolic diseases and in particular PKAN. Currently, research and development of medicines is taking place at various locations around the world. Kans for PKAN Kinderen Foundation raises funds to stimulate this research and development in order to obtain a medicine in the shortest possible term for the children who suffer from PKAN. Currently the following work is supported:
- UMCG Groningen (www.stichtinglepelaar.nl) in coordination with
- OHSU, Portland, Oregon, USA (www.spoonbillfoundation.org)
- Braincure, Sevilla, Spanje (www.enach.org)
Because for a child with PKAN every second counts in order to survive!