PKAN is a deadly, progressive and hereditary disease and the abbreviation for Pantothenate Kinase-Associated Neurodegeneration. Pantothenate Kinase is the name of an enzyme that no longer functions properly with this condition. Neurodegeneration is the loss of brain cells. Associated here means ‘as a result of’, now that the brain cells are lost due to a shortage of the enzyme Pantothenate Kinase. With PKAN, too much iron is stored in certain cells in the globus pallidus, part of the brain. This iron stack can be seen when an MRI is made of the brains of the children with PKAN. Because the appearance of the stacked iron on the MRI (with some imagination) resembles the eyes of a tiger, this is also called ‘the eye of the tiger’.
The name Hallervorden Spatz syndrome used to be used for this disease, after the two doctors who first described this syndrome in 1922. The term is no longer used because of the role of Hallervorden and Spatz in the Second World War.
PKAN is a form of NBIA. NBIA stands for Neurodegeneration with Brain Iron Accumulation and is a group of rare disorders in which children or young adults increasingly experience neurological problems as a result of iron depositing in the brain. The diseases PLAN, BPAN, MPAN, CoPAN, FAHN, INAD, neuroferrinopathy and aceruloplasminemia also fall under the term NBIA.
PKAN is a rare condition. It is not well known how often it occurs. It is estimated that it affects one to three per million children.
PKAN is caused by an error in the genetic material on chromosome 20. The location of this error in the genetic material is called the PANK2 gene.
A distinction is made between two forms: the classical and the atypical form of PKAN. The characteristics of the classical form start at childhood. Those of the atypical form at a later age or when someone is (young) adult. Three in four children with PKAN have the classic form of PKAN, one in four children the atypical form.
PKAN usually reveals itself at a very young age. There is currently no treatment available for this serious illness. Children with the “classical” and most progressive form of PKAN usually do not live beyond the age of 15. The disease manifests itself in the first ten years of life, with the average around 3.5 years. The children with the atypical PKAN variant often develop the disease at a later age. A few cases are known of people where the disease manifests itself in adulthood. In many cases they have been allowed to live a seemingly ‘normal’ life up to that point.
PKAN, however, has been present since birth. It often takes some time before it is clear that something is wrong with the child. The first symptoms are clumsiness, with later more noticeable problems with walking and developmental delays becoming visible. The behavior of many children changes: they become quiet and withdrawn and no longer laugh so much. The children are less able to move independently, show Parkinson’s-like symptoms and have to go in a wheelchair. Children with PKAN suffer – in the advanced stage of the disease – continuous pain and their body is constantly in a complete contraction due to dystonia (huge and uncontrollable tension in their muscles). The muscle tension that causes this dystonia is so powerful that it regularly happens that – without falling or bumping – the bones break in their arms and legs. Problems with chewing and swallowing and tube feeding is also required. The problems with talking are getting bigger and speech is falling away. Children often also have problems seeing. Some of the children suffer from epileptic seizures.
The disease is very stressful for patients and their caregivers. After a terrible agony, these children die because the heart and lungs no longer work. All this happens with full awareness.
At the moment there is no treatment available, but a lot of work is being done on this.
Living with PKAN
After hearing the diagnosis PKAN, a form of NBIA, Gwen’s parents tried to put their emotions into words
“On October 4, 2013, after a long search with various“ stamps ”, and many missing puzzle pieces, we were given the actual diagnosis that Gwen has the serious, very rare, progressive metabolic disease NBIA and that there is no medicine for it. From one day to the next from a somewhat carefree life to a life with always worries.
Halfway through the afternoon the clinical geneticist and the pediatric neurologist in Nijmegen called us into a room and told us they had bad news. Gwen had a serious incurable progressive metabolic disease, Hallervorden-Spatz * later called NBIA, which could not be cured. Totally defeated, the three of us stayed behind in the room and were crying for a while. An incurable metabolic disease … We didn’t really know what it meant! In the car on the way home to immediately read on the internet and what we saw there hit like a bomb. Our vision for Gwen disappeared like snow in the sun. We were all devastated and didn’t know how to proceed.
Our daughter Gwen has a metabolic disease. If we tell people that, most people will not ring alarm bells. Imagine if your child appears to have a disease in which everything can go wrong that can go wrong. A disease where there is a greater chance that your child will not grow up or will. A disease that causes you to find your child dead in bed one morning. A disease that can affect every organ that you have. A disease that makes your child dead tired, sore, blind, deaf, mentally disabled, physically handicapped, kidney failure, heart failure, unable to eat, unable to play, unable to participate normally in the normal world, spastic, greenhouse plant, name it on. Imagine that. Wouldn’t you go crazy screaming? Can’t sleep anymore? Always afraid of what can come? Wouldn’t it be terrible that so few people understand what it is? Wouldn’t you like to tell everyone that there is no medicine for it? ”
The most terrible thing is that any medicine for dear Gwen will be late. Gwen fought her fight against PKAN and died on July 24, 2019. She has become 13 years old. We are devastated, defeated and intensely sad. The knowledge that she is no longer in pain but has found peace is true, but does not bring her back to her loved ones who will miss her so terribly. We wish them a lot of strength and love in this difficult time.
The sweet smile on the cheerful face of Gwen, and also of Kevin, Joran and Joris on the pictures at the top of the homepage of this website and of all the other children who are fighting and fighting against PKAN, gives us the strength to keep fighting against PKAN🦋
*) Hallenvorder-Spatz is the name that used to be used for PKAN
Iron, iron why are you in my head?
And have you robbed me of so much pleasure
Why do you make sure that everything will stop working
Iron, why do you have to screw up my life like that?
Why don’t you just leave?
Why are you giving me this bad luck?
Why might you blind me later
I’m just a kid
Why can’t I swallow well?
Iron sometimes you want me to choke
Why can’t I move properly anymore?
Why is nothing stopping you
So you will leave my head?
And I can just keep talking
Iron iron, I will not miss you
But want to erase you forever from my head
You hurt my body so much
I just want to be happy
Iron would you please leave?
So that I can fully enjoy life again
I know you don’t just leave
And leave me alone
Going away completely won’t happen
I will continue to nag
Iron if only to stop you
I will continue to fight
If only you could be put out like fire
Iron iron please leave me alone
(Poem by S. de Ruiter,
mother of Scott)
The foundation focuses on the importance of “cure” and “care”. In addition to providing support with the daily effects of PKAN and creating happy moments and memories for PKAN patients, their relatives and loved ones, the aim of the foundation is to fight PKAN together, so that nobody has to die from this rare disease anymore.
PKAN is now (still) untreatable. Research and development of medicines is currently taking place at various locations in the world. This is done by:
– University Medical Center Groningen together with Oregon Health & Science University (Portland, Oregon, USA);
– Universidad Pablo de Olavide, in collaboration with Centro Andaluz de Biología del Desarrollo (Braincure), Seville, Spain;
– St Jude’s Research Hospital, Memphis, Tennessee, USA
Chances for PKAN Children Foundation focuses on the various (inter) national research groups that conduct research into PKAN and informs PKAN parents about this if required. The foundation also raises funds to stimulate the development of knowledge about living with PKAN in order to make a treatment method available for children suffering from PKAN as quickly as possible.
Because PKAN strikes in the body of a PKAN patient so quickly and devastatingly: time is our enemy, so every second counts.