The birth of a child is something one can hardly imagine. A cute little baby born, proud parents and grandparents in the hospital. Everything seems perfect. After 4 days we leave the hospital. At home our daughter suddenly stops breathing and her face turns blue. We hurry to the ER. After several severe apneas, resuscitations by the doctors and fear of death for our daughter, there is a first diagnosis: the brain stem is not quite mature yet, it happens, even with term births. Valeria is treated with caffeine citrate and for the time being everything seems to be fine. After 5 days in the hospital we are discharged. Valeria is 9 days old. The next morning, our little cute baby starts to twitch with her legs. No, what is that? Is that normal? Should we go to the hospital again? We get in touch with friends who are doctors. It could be asleep myoclonus, that is something normal. After two or three hours with this twitch in the legs, we decide to go back to the hospital. The doctors do not know what our little one is missing. Phenobarbital is administered as an antiepileptic medication. Valeria is doing well again for 4 days and of course we stay with her the hospital all the time. We are almost being released and sent home again, but then the little one starts to cramp again. The cramps get worse, distort the face of our little daughter, often the whole body and temporarily the little one does not breathe again. The purest horror. Our daughter is two weeks old and fights for her life multiple times a day. Subsequently, several tests are conducted. It may be that she has a brain tumor or something else could be wrong with the development of her brain. Poisoning or metabolic problems could lead to cramps. Loads of blood samples are taken and all kinds of anticonvulsants (antiepileptic drugs) are used to stop the cramps. In the meantime, we change the hospital. We are now at the University Hospital in Zurich and Valeria gets the 10th anticonvulsive which unfortunately does not change the cramps either. A genetic analysis which took 3 weeks (that is said to be very fast, normally it would take at least 8 weeks) provides the shattering diagnosis. Valeria has a de novo gene mutation on the KCNT1 gene. This means that in Valeria a new mutation took place on the KCNT1 gene which causes the potassium channels in her nerve cells to pass too much potassium. This is not really explained to us in hospital. The name of the gene is written on a post-it note because it is assumed that we would inform ourselves online about it. What we do after much hesitation. The doctors then say during a conversation the next day that we would soon know more about this disease than they do since it is that rare.
What follows is a treatment with quinidine, a potassium channel blocker, which in 2014 in the US supposedly once had led to a success. Unfortunately, it does not help Valeria. We find out that there can be multiple mutations on the KCNT1 gene.
The mutation with the worst effect leads to 22times of the normal amount of potassium passing through the potassium channels. Valeria has this type of mutation.
The doctors tell us that Valeria will never laugh, talk, run for sure and probably have at most a few years to live. Valeria is 5 months old today, on July 22, 2018. In our eyes, the loveliest baby in the world and the greatest sweetheart you can have. Only with the support of our families and our friends, it is possible that we are not completely shattered by this fate and ready to fight for the life of our daughter.
Numerous researches in neurologist journals, discussions and phone calls with doctors around the world have shown that almost no research is conducted in field of KCNT1 mutations. It is not known how often the KCNT1 gene mutation actually occurs. It was discovered only in 2014 thatsevere epilepsies in infancy have a connection with a gene mutation on the KCNT1 gene. The umbrella term for these symptoms may be found somewhere between BNS epilepsy and West Syndrome.
The West syndrome is characterized by clustered generalized seizures with bilateral symmetric manifestations with 3 seizure characteristics which usually occur in combination as a flash nick-salaam attack (BNS seizure). These include rapid myocloni with a predominantly flexion of the extremities, especially the legs (lightning attack), spasmodic flexion of the head (nick attack) and throwing up and flexing of the arms with, if necessary, merging of the hands in front of the chest and flexion of the trunk (salaam attack). Usually, these seizures are accompanied by crying. The high seizure rate causes a disturbance of the physiological brain development. Children with West Syndrome usually have psychomotor developmental delays accompanied by mental retardation. They lack the ability to fixate, to response and have a hypotone muscle tone.
On the list of rare diseases you cannot find the umbrella term West Syndrome and Wikipedia does not mention West Syndrome either. One potential reason for this is that the genetic tests have been available only since 2014 and many seriously handicapped people with West Syndrome have not been examined for the genetic defect. The genetic test costs about 4'000 USD and is not covered by the health insurance in Switzerland. It can be assumed that the West Syndrome is relatively common in the category of rare diseases and would therefore be of commercial interest to the pharmaceutical industry. However, the pharmaceutical industry has not yet noticed this fact.
We want to change this with our association. We want to promote research in this field. We want to connect doctors and pharmacists with each other and make them aware of this rare serious disease. In addition, we would like to create a platform that helps affected families and provides an exchange of information, also with regard to palliative forms of therapy. Ultimately, the association should also be able to support affected families financially since much of the treatment is not covered by the social security institutions and the health insurance.
We want to promote research in this field. We are in contact with several laboratories, biotech companies, pharmacists, geneticists and neurologists worldwide. It is known that the gene mutation KCNT1 resp. the affected potassium channel, which results in one of the worst diseases known, would actually be a problem relatively easy to solve. One would just have to turn off the KCNT1 gene and those affected would feel much better, as mouse models indicate. Other diseases were cured, e.g. with Spin Raza (Biogen ASO technology), solving a much more complex genetic problem. The aim was to increase the release of an amino acid because of the gene’s subfunction. Concerning Valeria’s KCNT1 gene defect, the amino acids would have to be suppressed. Experts agree that suppression of amino acids is easier than increasing their release. With the technology available today, this is relatively easy to do which is why we try to get a team up and running as soon as possible to help show the biotech industry that KCNT1 is simply curable and worth the investment, even if it is a rare disease.