Marta, with Niemann Pick C, fights for a cure with gene therapy

Despite the hardships of her daily life, Marta has decided to embark on a voyage to find a cure, with the hope and support of her parents and hand in hand with the Columbus Foundation. Ignacio is her father. We spoke to him so that we could learn a little bit more about Marta and the initiative ‘The voyage of Marta’, that alongside Ana, his wife, they created. The initiative begins on the 27th of September with a charity evening in Madrid

The disease of Niemann Pick C (NPC) is a rare genetic neurological illness. Due to a defect in the DNA, the proteins required for the transport of cholesterol are not produced resulting in its accumulation inside the cells. The failure to remove the cholesterol causes structural damage and the functional inability of these cells. Core organs are affected such as the lungs, liver, spleen and neurones. The organism progressively deteriorates causing serious neurological damage.

When did you know about the diagnosis?


She was diagnosed when she was two months old. In a routine check-up, the paediatrician saw that her liver and spleen were swollen. He recommended we hospitalize her for 10 days in the University Hospital in Brussels. Here, they ran many tests, including a procedure where she was put to sleep with anaesthesia so that the doctors could obtain samples from different parts of the body. As the days went by, they ruled out more and more diseases that were less severe, and everything seemed to point towards the worst diagnosis of all, Niemann Pick C.

During these past four years, we have learnt from other cases that we have seen that we were incredibly lucky to have had such a fast diagnosis, and that the doctors were able to give this rare disease a full name.

What solutions were you given when Marta was diagnosed?

To be honest, we can’t remember it well. That time was extremely hard. We didn’t understand anything and we couldn’t believe that this was happening to us. Everything became even more complicated as we were living abroad, we had no family close by, and because we didn’t know what resources we could access to understand the disease better and try to cure it. At the hospital, they had already told us there was no cure, but that there was a medication that would help to delay the development of the disease. They encouraged us to enjoy her as a baby, as her symptoms wouldn’t be as severe and obvious then as they would be in the future.

How does the illness affect the child on a daily basis?


Unfortunately, it gets worse every day. As it’s a degenerative disease, she is progressively losing the few skills that she has developed until now. It was always very difficult for her to eat, move, learn, and do all the things that children her age usually do, even just to crawl or walk.

Today, she can’t stand up or eat by herself, her diet is primarily soft foods that she can swallow. The activities that she can do are limited to those that can be done when she is sitting down.

It must be extremely hard for parents to see their child so fragile….


At the same time though, Marta never stops smiling and she loves to sing. She admires her sisters. She laughs a lot when she sees them and with some help, she plays at making food and being at the shops … ‘working’ as she likes to say, as she turns the pages of a book, but always with help. She can also understand different languages, due to the surroundings of where we live and the school for children with special needs.

She is able to communicate and join three words to tell us what she wants, what she does at school and the little things in her daily life. We have two other daughters, one is older; Mencia, and the other younger one; Maria, and despite trying to live a normal life, it is increasingly harder for them as they become more aware of what is happening.

That must have a significant impact on the family


We feel helpless as we see her worsen and we can’t do anything to prevent it. She takes so many medications and we have to be continuously aware of her every need. However, it is also true that we have learnt to think relatively and have a more profound outlook on life. We appreciate everyday as if it were a gift. All the other things that our daughters can do they observe and appreciate a lot more because they know that other children can’t do them and that teaches them to be better people and help those that need it the most.

We work and fight every day to try and see all the good things that come with Marta and with NPC, because we know that tomorrow those things will be a little diminish, so we don’t stop to suffer instead we enjoy every moment.

What solutions are there to treat this rare diseases? At least to alleviate the symptoms

Currently there are no cures for this disease. There only exits a medication called Miglustat, that currently has been shown to slow down the advancement of the disease, but only for a time. Miglustat is very strong and has many side effects which we treat with other medications. Marta has 17 pills a day. In addition to the medication, we have to work tirelessly with physiotherapists, speech therapists and other specialists.

Unfortunately, none of them offer a cure and their efficacy in improving quality of life hasn’t been completely proven. They work on some patients, but not on others.

These past few years, there are a few medications currently on trial that have been used to treat other diseases and that seem as though they could help; Ursochol, an improved version of Tanganil; Efavirenz or Fingolimod. There also exists clinical trials for new medicines like Amiroclomol o Ciclodextrina. Marta is medicated with those that are less invasive and that allow her to have the best quality of life possible.