GENEROSITY FOR OTHER CHILDREN’S SALVATION

Ms. Hout

Ms. Hout

A cruel illness made Gloria García change the bank office she was working for, for the childhood oncological laboratories of Sant Joan de Déu Hospital in Barcelona (HSJD). When Gloria’s daughter Alica was only six she was diagnosed with an incurable tumour into his brain. It was the Diffuse Intrinsic Pontine Glioma, common known as DIPG. Since that moment, Gloria’s life has being depending upon this Hospital. Now, seven years from Alicia’s death, the research that holds her name with a group of investigators from HSJD have discovered a new recurrent activating mutation in the activin receptor ACVR1. This also means an opened door for a new treatment. This scientist essay has been published in Nature Genetics magazine joined together with four more papers from other international scientists groups.

“They said that there wasn’t a solution, that there wasn’t a treatment, that there was no reason for a biopsy, and also they said that Alicia was going to die along next 12 months”, is remembering with a huge strength Gloria, Alicia’s mother. Unfortunately, Alicia died the next 15 months from the moment she was diagnosed with this illness. “All kids with this kind of tumours, all over the world, they die sooner or later, because DIPG has 100% mortal effectiveness”, ensures Chief of Onco-Hematology Area from HSJD doctor Jaume Mora. A macabre effectiveness that can’t permit to families a little hole for hope. “It is a very cruel illness, you are watching how your child is turning off, but the thing makes you feel completely impotent is to see how the hole process happens in front of your eyes and you can’t do anything to avoid your baby goes away”, painfully Gloria García remembers.

Every year there are diagnosed 20 new DIPG patients among kids from 6 to 8 years old in Spain. “It is the only childhood cancer that stills incurable, without an effective treatment for the moment”, doctor Mora claims. The Glioma is found in a very specific part of the brain where surgery is not an option. In 90% of cases the tumour has got a mutation of H3 gen and treatment is unknown right now. Talking about symptoms, these can be very imperceptible among child. “A little eye’s deviation, a little loss of strength in an arm or a leg”, doctor Jaume Mora points. “Alicia was feeling tired but my husband and I though it was because we were traveling on holidays, but once we arrived at home we realized that it was more than a simple fatigue”, Gloria remembers. Although focal radiation provides temporary relief, there doesn’t exist any specific medication for this desease.

MRI or CT scans are available for childhood brain cancer diagnosed, but getting tissue for biopsy it is necessary for knowing more about this disease. In Alicia’s case she was too late for biopsy, on that time biopsies were not made as often as today. “When Alicia died my husband and I asked ourselves what could we do in order to change this awful situation and then we decided to start a new international scientific investigation that was joined by researchers and oncologists. Seven years before Alicia death, the research Fund Alicia Pueyo it is an example of perseverance and success. Funds collected by Gloria had put the basement of scientific group from HSJD joined by doctor Jaume Mora. From two years time, the international research has got the first results.

This groundbreaking research reveals that in 20% of cases the tumor has a new mutation on gen ACRV1, unknowing at the moment. “This mutation can be attacked with medicines, it is call among scientist as a therapeutic bull’s eye”, doctor Mora claims. Nowadays exist medicines used in adult cancers that can be used immediately to DIPG patients in order to avoid Gen ACVR1 mutation. This research it has taken two years of studies and now it has been published in Nature Genetics magazine. This scientist essay leading for HSJD is joined together with four more papers from other international scientists groups from France, UK, EEUU, and Canada.

The achievement means and opened window to hope. A hope that needs the generosity from ones who are suffering the most: the little patients and their families. “It is not only about funds, it is about the need to be too generous that families can accept to give permissions for kids biopsies. With one tissue for biopsy obtained by researchers they can make steps forward to a new treatment”, Gloria García claims. “In fact, you are sure that your kid is not going to take benefit from a biopsy but, you can help in other kinds salvation. Now seven years from Alicia death I know what have my daughter had into her brain”, Gloria sums up. Nowadays Sant Joan de Déu is the only Spanish hospital where biopsies are taking place all over the country. In fact this week here they are celebrating the first anniversary of the first surgery. “ With no biopsies we can’t get useful diagnoses”, doctor Mora says. The fight against DIPG is a race against the clock. “We need all tissues for biopsies that we haven’t got in the last 15 years, doctor Jaume Mora claims.

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