When Elishka (8) was born, her parents did not suspect what a cruel fate awaited them. The previously healthy little girl began to change before our eyes, but for a long time no one knew why. Only two years ago the family learned about the terrible diagnosis.
The severe disease mucopolysaccharidosis (MPS) causes a lack of a vital enzyme in the cells. For most young patients, this means death in late childhood or adolescence. As in other cases, Elishka’s disease made itself felt slowly, with small signs.
“When Elishka was born and I held her in my arms, I was the happiest mother in the world. I have always wanted to have two wonderful children. But then I did not suspect what a cruel fate awaits us. For the first six months everything was fine and there was no indication of what was to come in the years to come.” describes Veronica Zemanova.
A wreck from a happy little girl
The daughter began to suffer from insomnia and was often sick. After anesthesia and removal of the tonsils, a disease unknown at that time began to appear. This was followed by a series of examitions, additiol anesthetics, magnetic resonce imaging and a sleep consultation.
“Elishka began to fall dangerously on her head with all her strength, without stopping the fall in any way. She used to have a big tumor on her head and we didn’t know what was going on. She suddenly stopped doing the normal things she used to be able to do. Draw, dance, talk, open doors, climb stairs. Eating problems began, she often coughed. This beautiful little girl, full of life, gradually turned into a ruin. mom says. Parents learned about the diagnosis only when the girl was six years old!
“I got a call from Prague that they maged to uncover the possible reason for all this, but that they do not want to scare me. Of course, I couldn’t do it and asked what they came up with. The power of the internet brought me to tears. What I read, I did not expect even in my worst nightmare. It’s called mucopolysaccharidosis, and it’s deadly.” Elishi’s mother remembers the moments of truth. The most difficult thing for the whole family is that it is impossible to influence the development of the disease, and even more so to stop it. There is no medicine.
Recordings from the 70s
In the Czech Republic, more than 160 children have been diagnosed with this disease since the 1970s. Since 1994, there has been a hospital organization in their families, it was founded by the parents of children with the same disease. “Thirty years ago, things were different, the internet was in its infancy, diagnostic options were limited, and therapy was out of the picture.” remembers prof. Jan Michalik, who stood at the origins of the MPS Society.
Today, doctors can recognize the disease faster. However, treatment options are still very limited. “What’s left? The traditiol motto of the global IGO community, ‘There is no hope, only love,’ today may sound like ‘Just a little hope, and therefore love.’ Caring for sick children remains one of the most difficult experiences a person can face today.” adds prof. Jan Michalik.
Elishka’s parents struggle with love against an irreversible fate. In addition to a little girl, they have an older son, Ladik (10 years old). “We try to get him to live a normal life, but it’s often difficult. Sometimes you have to hear from those around you that I locked Elishka somewhere. I would never do that, but I’m afraid it won’t upset me. Who will take care of her? It wakes me up from my dreams.” says Elishi’s mother, who often feels completely exhausted.
Food is luxury
What does a typical day look like with a sick little girl? For parents, the most important thing at the moment is the exercises that they try to do with their baby several times a day. Elishka wakes up in tears, because she spent the whole night in one position and her tendons hurt. She stopped walking on her own last year and can only do so with help.
“Elishka constantly demands to go for a walk, so basically we walk around the house with breaks all day, play sports, she can’t be occupied with toys or TV, as some people think. After walking all day, the person falls into bed and prays that she will sleep at night. describes a mother who helps out on good days when she visits the hospital with her little girl.
And so every day, someone is better, someone is worse. “The hardest part is that sometimes you have to look for love. She is very demanding, you do everything to make her happy, but your strength is running out. Going to the bathroom and eating is a luxury that I can’t afford.” mother continues.
People don’t value health
As she herself says, she and her husband do not rest, but only survive. Above the water they both hold little joys. “Elishka’s every smile, every step makes us happy. When my son scores a goal in floorball, when I mage to bake something, cook it in our conditions. A person can be happy with little, people do not value health. I would have given my life for Elishka, but that would not have been enough. I’m afraid of what will happen. I would really like her to leave while she still has something left in her life. confesses Veronika Zemanova. Her feelings are very strong, full of love, fear, fatigue and a desire to endure.
“It kills me when I see her moaning about how she can’t stand up to the kids who make fun of her. What worries me is mean people who are jealous of our car, but they don’t know anything. I’m afraid I’m running out of strength. I cry when no one sees me. But then I get up, and I have the strength to continue the fight, because there is no other way. concludes the brave mother.
Sponsored by the Mucopolysaccharidoses Society
Currently, the company offers not only family bonding, but also legal advice, crisis support or assistance in applying for funds for the purchase of aids and rehabilitation. Parents most often need support and understanding in the first minutes after diagnosis.
“Parents hear information from a doctor, have support for crisis interventions, and then they need reality – to see and get to know someone who really lives that life and even survived the initial shock. I really like this tandem – a new family can get information from me and my colleagues, and then check it out or discuss it with another mom or dad. They need information to familiarize themselves with their new role.” explains crisis interventionist and MPS Society assistant Petra Haykov.
Help doesn’t end with the death of a child.
The MPS also supports parents in communicating with their GP, often dealing with education and mandatory school attendance or persol assistance and leisure activities.
“We often face the problem of brothers and sisters – how to talk with a healthy brother or sister, how to distribute attention, how much to involve or not involve in care. And we are also in touch at the most difficult moments when a child dies, and for some time after it. With the death of a child, society is not closed to caring parents – they are still desirable, we are still interested. added Petra Khaikov.
Thanks to the support of the Ministry of Health, an organization that until now was mainly voluntary turns into a professiol organization, collaborating with the Department of Pediatrics and Hereditary Metabolic Disorders of the University General Hospital in Prague, as well as with parents and patients themselves, for example, in creating publications for applicants families.
At the end of May, the 29th All-Russian Meeting of Families will take place, where caring parents have the opportunity to gain strength, collect new information, exchange experiences, and also get a new education. Currently, the charitable association takes care of 36 families throughout the Czech Republic, with a total of 41 children. Children have already died in 31 families. Read more at www.mukopoly.cz