Marta and Sebastian Książkiewicz
There is no drug against Leigh syndrome, this damaging disease, but a comprehensive rehabilitation can considerably slow down the progress of the disease.
Tymek takes part in physical, developmental and speech therapy and also psychological therapy in the Maltese Center of Assistance to Handicapped Children (Maltańskie Centrum Pomocy Dzieciom Niepełnosprawnym) in Kraków. He also has physical, developmental and speech therapy at home.
Our son goes to a special education kindergarten, where he develops social and educational skills and every day has fun with other children what makes him very happy.
We engage in every effort to help our son, we want him to enjoy his childhood, even if his life looks quite different to this of healthy children.
LEIGH DISEASE (subacute necrotizing encephalomyelopathy) is a genetically determined, progressive, mitochondrial disease.
A mitochondrial disease occurs when the mitochondria of the cells fail to produce enough energy. Mitochondria are small parts of the cells, which are “powerhouse of the cells”, that means, they are responsible for producing cellular energy. A failed function of mitochondria leads to cell death and in consequence to bad injury of organs (especially brain and muscles).
Leigh disease is a very rare disease (1:40 000), which may be caused by mutations in one of about 30 different genes. Most of them are found in the nucleus of the cell (nuclar DNA), but about 10% of them are found in mitochondria (mitochondrial DNA). Putting the right genetic diagnosis is a difficult and very long process, often with no success. In case of Tymek the disease is still not genetically confirmed, which means the damaged gene is still not recognised.
The Leigh disease manifests very differently depending on the child, the genetic mutation and the stage of the disease, but it is always a multiorgan disease (brain and muscles are always affected). Tymek has the following symptoms of the disease:
– epilepsy – excessive bioelectrical discharge in the brain. In case of Tymek epilepsy shows itself in trembling of muscles in the right side of the body.
– hypotonia with spasticity in limbs – which means generally low muscle tone with increased muscle tone in arms and legs at the same time. The body of Tymek is flabby, he has problems even with keeping balance while sitting. On the other hand he stretches his legs and hands, which unables him to walk and to do precise movements with his hands.
– psychomotor retardation – his development is slower than by healthy children – he is not able to walk, he still pronounces only few worlds, although he understands the speech very well.
– loss of motor skills – his body condition has worsend seriously during the last four years. Four years ago he was able to do 3-4 steps alone, now he can not walk any more and crawls with effort.
– infections, fever, stress – each infection, especially viral, fever or even stress leads to a bigger brain damage and often to worsening of motor skills. During the infection, even a simple cold, Tymek is always very weak, apathetic, he cries much, each infection lasts much longer than in case of healthy children.
– cataract of both eyes – Tymek had two surgeries, now he sees quite well, however he needs to wear glasses.
– hypertrophic cardiomyopathy – it is a heart disease. The left ventricle of Tymek’s heart is thickend. Fortunately, despit of it, his heart works quite well.
– adrenal insufficiency – by Tymek the adrenal glands do not produce adequate amounts of cortisol what decrease the sodium level and might be very dangerous. Tymek takes two drugs against it and regularly has to do blood tests to check the level of sodium.
– fatigue – Tymek gets tired very quickly because of energy deficit, he needs more rest than healthy children, he still sleeps during the day.
– poor growth and weight – because of energy deficit Tymek has problems with gaining weight and growth. However he is already six years old he looks like a tree-years-old at most.
– instabile temperatury of the body – Tymek has sometimes temperature jumps (not related with infections), he also easely gets freezed or overheated.
There is no causal treatment for the Leigh disease. However nowadays a drug, that mitigates the symptoms of the disease, called EPI-743, is beeing developed by an american company Edison Pharmaceuticals. It is now in the phase of clinical trial and is still not available on the market. The to date clinical trials in the USA and Europe has shown positive results. The drug is not a cure, but it can improve the condition of patients and is a sign of hope for all children with Leigh disease.
Very important for Tymek is the rehabilitation and therapy which slow down the progress of the disease.
Tymek is under care of several physicians such as: a genetist, a neurologist, a metabolic physician, an endocrinologist, a cardiologist, a rehabilitation physician, an ophthalmologist and also a physical therapist, a psychologist and a speech therapist. Tymek has a disability certificate.
Tymek was born on January 11, 2010 as a healthy child. In the first weeks of his life there were no signs of the future disease. Although… if we look back we now know that frequent cry, light sleep, the lack of appetite and the constant will of being carried was not “just the way he was”, but the result of the disease. At the age of 3 months appeared by Tymek nystagmus (uncontrolled eyes movements) and at that time we knew that something was wrong with our son. The long and arduous diagnostic process started, which is till today not completely finished. What we know is that Tymek suffers from a progressive, damaging disease called Leigh disease, but we still do not have information which of the many possible gens responsible for this disease is damaged by our son. Tymek is not able to walk, he pronounces only few words, has a heart disease, epilepsy and presents many other disease symptoms.
Despite the disease Tymek is a very cheerful boy full of curiosity. He likes the company of other children, especially of his 11-years-old brother Olaf, who is an authority to him. In spite of age difference the boys love to play together and Olaf can amuse Tymek like nobody else.
Talking about Tymek we cannot forget mentioning the music. Tymek is a big music lover. He wants, or better demands, that music accompanies him on every step. His repertoire is very wide – from nursery songs to Vivaldi. Tymek catches all acoustic waves, he experiments with different sounds.
We hope that comprehensive rehabilitation, our support and the cheerful character of Tymek will make his childhood in a way happy.