On her left wrist, in block letters, Cristina Gutirrez has tattooed the word resilience. 11 letters that are her motto, her motto for life since her daughter Valentina was born eight months ago with an ultra-rare disease. The disorder suffered by the little girl is so rare – the only case in Spain and barely 30 patients worldwide – that the doctors took months to find the diagnosis, with the cause that causes the little girl a great hypotonia, a muscular weakness.
ular so large that it barely has mobility, it needs to resort to a respirator and must be fed through a tube, among other complications.
Unfortunately, the name of the disease – type 3 congenital hypomyelinating polyneuropathy – came along with the realization that, to this day, there is no cure or treatment for the disorder.
But, as the tattoo I have shows,
the word surrender does not enter our vocabulary
so we are fighting so that it does not fall into oblivion, so that someone finds solutions, explains Cristina from Los Barrios, the Cadiz municipality where the family lives and from where they make an appeal for help.
We don’t want money. What we are looking for is a researcher, a team of scientists who is interested in this disease.
study it and try to find a cure or, at least, a treatment that improves the quality of life of children like Valentina, he pleads.
Until the day Valentina was born, there was nothing to suspect the existence of the disease. The pregnancy was completely normal and in all the check-ups everything was fine, but, of course, what Valentina has could not be seen in the ultrasound scans and in the tests that they normally do, recalls Cristina, who went into labor at
34 weeks of gestation
. The delivery at the Punta de Europa Hospital in Algeciras also went without complications, but as soon as she held the girl in her arms, both she and Jorge, her partner and Valentina’s father, saw that something was wrong: they put her on my chest. and Valentina made the feint of crying, but she didn’t. So they took her away and we spent 40 minutes without seeing her until a pediatrician came and explained to us that the girl was not reacting, that she would collapse if they took off her oxygen and that they had to send her to Cádiz, to the Puerta del Mar Hospital. The family did not know then that they were going to remain hospitalized there for the next five months.
They told us they didn’t know if the girl was going to make it all the way to the hospital, so at that point
I asked for voluntary discharge
and I went there.
Valentina and her mother, along with the rest of her family (in the reflection of the mirror).
ZAMBRANO TASTING
Valentina managed to get to the hospital, but from then on, it was all bad news… She couldn’t breathe, she couldn’t swallow, various organs were malfunctioning…
each novelty was like a stab in the chest. And without knowing the cause
remembers Christina.
The girl does not have any physical features that would be associated with a syndrome. They knew her hypotonia had to be related to a genetic disease, but it wasn’t easy to figure out, he explains. At first, Valentina was tested for all the genetic diseases compatible with her symptoms for which there is treatment, but all the results were negative and our hopes fell even further, she laments. During that period, they also had to perform an operation on her little girl to place a gastrostomy feeding tube and a tracheostomy for the artificial respirator. That when we still did not know the disease. They even told us that it was very possible that we would go home without a diagnosis, but finally a more complete genetic study found the mutation that causes the disorder.
At first, when they told us about this ultra-rare disease, we stayed in
shock
. We had to go look for the neonatologist again so that he could explain it to us again. We searched the internet and found practically nothing of the infrequent cases like Valentina’s.
According to Francisco Javier Rodrguez de Rivera, coordinator of the Neuromuscular Diseases study group of the Spanish Society of Neurology (SEN), this type of rare disease is caused by a mutation in the gene.
CNTNAP1
which is located on chromosome 17 and is involved in the production of myelin, the protective layer that covers nerves.
Imagine that the nervous system is an electrical wiring.
Nerves are like power lines
that have an inner copper wire, which is the axon, and an outer plastic coating, which is the
myelin
. Myelin protects the nerve root, the axon, and stabilizes its activity.
In order for the nerve to transmit information well, it must have a correct myelination.
Therefore, in patients in whom there is not adequate myelin production, the connections fail, the transmission of information, for example from the nerves to the muscles, will be slow and with interference, which has many implications and can cause different problems, such as hypotonia, alterations in psychomotor development, cognitive alterations, in the senses, etc. The prognosis is usually fatal in childhood, although much is unknown about the disorder.
It is a recessive genetic disease, continues the SEN neurologist. This means that to suffer from it, it is necessary to inherit two copies, one from each parent, of the aforementioned gene mutation. The disorder was first described in 2017 thanks to advances in genetics, but unfortunately there is no treatment available today to combat it.
The first thing I asked was if they couldn’t remove the myelin from my nerves?
to put it on my girl, Cristina intervenes. But not only is it not possible, but there is no type of open research on how to treat or cure this disease. There are not even studies on its evolution, on what we can expect. In the event of any new symptom or complication, we do not know if it is related to the disease or not. There is absolutely nothing anywhere in the world. We are desperate.
In the last two or three years there have been great advances in gene therapies aimed at correcting specific genetic mutations, says Francisco Javier Rodrguez de Rivera. However, these therapies have not been able to be effective in the case of genetic neurological diseases, laments the specialist. To be able to act directly on the cells of the nervous system and be able to rewrite those mutated genes, it is necessary to pass the
barrera hematoenceflica
It protects the central nervous system. In order to use genetic editing tools, such as
CRISPR
, it is necessary to use adenovirus as a vector. But until now it has not been possible for the vector to cross the blood-brain barrier and, therefore, for the editing tools to perform their function. Attempts have been made to develop a gene therapy for more frequent recessive neurological diseases, such as Friedreich’s Ataxia, but so far without success because the barrier prevents access and rewriting, changing, the mutation that causes the problem.
It is necessary to continue researching in this line.
.
Promoting the investigation of this or other possible approaches to find an effective therapy is precisely what Valentina’s family is pursuing, who has been living again in their house in Los Barrios (Cádiz) for three months. Cristina has had to leave her position at the furniture company where she worked to take care of the little girl, who receives early care and goes to the physiotherapist five days a week -three of those sessions privately-.
We have had to learn a lot of care… to change cannulas, aspirate secretions, handle the respirator, the tracheostoma… an accelerated nursing course to attend to all the needs of the girl. And always very carefully so that it does not catch any infection, almost as if we were in a bubble, because
we have been told that he is very vulnerable
explains Christina.
Currently, they are trying to ensure that Valentina can spend several hours a day without the respirator -the goal is for her to wear it only to sleep-, a milestone that she has achieved
Vincenzo
a 14-month-old Italian boy who suffers from the same disease as Valentina and whose case they learned about through the networks.
We hardly found any information about the disease, so we created an Instagram account -@elcaminodevalentina29- to publicize our case and seek solutions. This is how this Italian family who suffers from the exact same disease came to us and we have come together to make the disorder known and to ask someone to investigate it. They have written to Queen Letizia, to the President of the Government, to all kinds of institutions…
We can’t sit idly by
, cries. Everything I’ve been through for my girl will happen again and if she were born again I would want Valentina to be my daughter again. We are going to keep fighting and we are going to move heaven and earth for her. Always.
Next Tuesday,
February 28th is World Rare Disease Day.
. According to data from the Spanish Federation for Rare Diseases (FEDER), around three million people currently live in Spain – more than 300 million worldwide – with one of the more than 7,000 rare disorders – less than five cases per 100,000 inhabitants – estimated to exist.
To continue reading for free