Minors between the ages of 2 and 18 with achondroplasia may benefit from a treatment whose financing has been approved by Health and which allows growth of 1.5 to 2 centimeters per year; Miguel, 6 years old, is one of them.
Snack time at the house Garcia Cavestany family. Miguel, six years old, comes home from school and connects with his parents in an interview by video call with this newspaper. Logistical issues make a face-to-face difficult. The child wants to see everything, hear and tell things about him but something prevents him: an XXL sandwich to which can barely sink his teeth into it. by his side, Jose Garcia, the father, civil servant. In another call, Maca Cavestany, the mother, an agronomist engineer, Connected from your office. They live in Alcalá de Henares (Madrid) and are part of a group that these days share great joy: the Ministry of Health has given the go-ahead to the financing of a new orphan drug for the treatment of achondroplasia that will mean a before and after in the lives of children because it allows growth of 1.5 to 2 centimeters per year. “We have won the lottery”sums up José.
Huge expectation in Alpe Achondroplasia Foundation, directed by Susana Noval. Smoking phones and a new hope in the form of medicine. Just a few days ago, the Interministerial Commission on Medicine Prices approved the financing of a new orphan drug for the treatment of achondroplasia, from the pharmaceutical company BioMarin. It is marketed under the name voxzogo and its active ingredient is vosoritide. It is indicated in the treatment of patients from two years of age and up to adolescence whose epiphysis -the part of the long bones that is located at each end- have not closed. Achondroplasia affects the growth of almost all the bones in the body.including those of the skull, spine, arms and legs resulting in greatly diminished stature, among other health problems.
“It is a very great emotion and enormous joy. Tears came to our eyes. There are more than twenty years of research and, behind it, is the work of many people,” say Miguel’s parents.
THE SPANISH NEWSPAPERfrom the Prensa Ibérica group, has taken the pulse of one of the Spanish families that, shortly, will benefit from the drug. Michael’s. “It is a very great emotion and an enormous joy. We were in tears knowing it. There are more than twenty years of research and, behind, there is the work of many people. It is a historical landmark. There are many families that we were waiting for”, summarize Maca and José. They calculate that, from what the Alpe Foundation has told them, in a month or a month and a half their six-year-old son can begin to receive treatment that is hospital. Everything will depend on the speed of the procedures in the health center.
A long way
From the Alpe Foundation, they admit that reaching this happy moment for so many families It’s been a long road. The Minister of Health herself, Carolina Darias, “had the detail”, reveals Susana Noval, to call the entity to give the good news. It was Friday, November 25, the day before her department announced the funding approval. Many parents couldn’t wait any longer, she adds. The message they were trying to convey to them, was to keep calm.
Because the drug is approved after seven years of clinical trials. Voxzogo was the first FDA-approved treatment (Food and Drug Administration) and the European Medicines Agency (EMA) -one year ago now- for achondroplasia, the most common form of short stature. It is a rare genetic disorder of bone growth characterized for disproportionately short stature, a curvature of the spine and an enlarged head (macrocephaly). The characteristics can lead to health problems such as reduced breathing for short periods of time (apnea), upper airway obstruction, obesity, hearing loss, and dental problems.
A pioneering investigation
“We are talking about something historical. It is the first scientific investigation that goes ahead. When the foundation was created, in the year 2000, it began to investigate. In Israel, they were created in a laboratory the first mice with achondroplasia. From these mice, the first molecules that are now the new drug were born. Go figure. oh22 years of research!. The investigations of that laboratory in Tel Aviv was being ceded to pharmaceutical companies that they wanted to take it. One of the first was BioMarin who decides to bet heavily and he begins to work in the laboratory to create that molecule and start clinical trials. Now, there are many more drugs that are being investigated,” says Susana Noval.
When Europe had already given the green light to the drug, the problem of its financing arose in Spain: it is expensive and the communities passed the ball to the Ministry
The Alpe coordinator explains that, when the treatment was already authorized in Europe, the problem of financing arose in Spain because it is an orphan drug –for a rare disease– and its cost, very high: “260,000 euros per year and that from the age of two until the growth plates close. The box came out at about 21,000 euros a month. It was unfeasible. It is true that there was the option to acquire it for medication in special situationbut that cost had to be borne by the hospital or the Ministry of each community, until the Ministry financed it”, details.
Each family that requested it as a medicine in a special situation received a rejection from the hospital. because it was not a priority
What did they find? “So that each family that requested it as a medicine in a special situation received the rejection of the hospital. Because it was not a priority and, if the community was passing the ball, it said that it was going to wait for the Ministry to finance it, “he adds. They only got two in this way: one in Cantabria and another in Murcia. In addition, the person in charge of the Alpe Foundation complains, although the group knew that negotiations were beginning between the Ministry and the pharmaceutical company, the bureaucracy always arose for approval, “eternal compared to other countries.” In fact, the treatment was already approved in Italy and Germany and, due to a legal loophole, in Portugal and France as early access (limited number of authorized drugs).
Increases growth rate
But, what does it consist of?. Susana Noval clarifies: “It is administered from the age of 2 until the closure of the growth plates (17 or 18 years, it depends on each child, he specifies). What it does is that it increases the speed of growth. Your arms grow, for example.” The treatment gets a growth of 1.5 to 2 centimeters per year. “It is a linear growth, a greater growth of long bones. It means getting to ring the doorbell of your house, to clean your bum when you’re little, getting to drive…Impact on autonomy“Nova adds.
It is estimated that some 250,000 people in the world, 3,000 of them in Spain, suffer from this genetic alteration of bone growth that causes the most common type of dwarfism.
How many children will be able to benefit?. The person in charge of the Alpe Foundation complains: there is no real census of children with achondroplasia in Spain. It is estimated that some 250,000 people in the world, 3,000 of them in Spain, suffer from this genetic alteration of bone growth that causes the most common type of dwarfism. An alteration, the families insist, that goes far beyond having a short stature. “The day to day is very hard, you have to fight with the social barriers, with the stigma…”, they specify from Alpe.
The joy of Miguel’s family
If you ask the García Cavestany family, all are words of joy. Maca, the mother, explains it: “It is hope for all parents in the future. We know what it is to have a pregnancy and to be told that your child is going to be born with achondroplasia. That, for some parents, is beastly and now it is amazing to think that the drug is on the market and can be administered to children. Miguel has, at least, 10 years ahead of growth until their growth plates close. I told my family: we can say that their autonomy is almost assured in the face of their adulthood“.
“Miguel is Miguel. With or without medication. With his condition, regardless of the treatment we are going to give him,” says the boy’s father.
The boy’s father adds that, from now on, limb lengthening surgeriesthe only option available so far, “or they will be removed or they will be reduced to the minimum”. But, take advantage of José García, to make a clarification. “Michael is Michael. With or without drug. With your condition, regardless of the treatment we are going to give you. Many people when a medical breakthrough comes, they cling to it, but it’s not everything“, Add.
Miguel, sandwich ahead, tells that he likes school, that he is in Primary, that his teacher is a girl, that in a little while has swimming lessons and that he has already thought about the letter of the Magi, in which they will go, among other things, pokemon cards and a clock. And that he likes, a lot, to dance. Very attentive to what is told in the interview, he only disappears for a little while and returns with a gift that he proudly shows: a letter with many hearts and good wishes for Christmas.
mischievous and friendly, is a fully happy child, says his mother. He is aware, despite his age, that he has short stature, but it is not a big problem for him because that is what José and Maca are there for, to cover him up and explain everything to him. They, who admit, that when they found out that the baby had achondroplasia they lived through it like “a fat stick” and that, together with the child, after “grieving”, they turned to work so that those centimeters less would not prevent him from leading a normal life. “If you project your frustration, the child will be frustrated”Jose asserts.
Little by little, the child, with a motor development below his age, has reached the rest of the milestones of other minors his age. With a lot of work -physio, speech therapist…-, without respite, but with joy, because “he never complains about anything” says his mother. Except for a series of adaptations in class -such as the chair, so that he has good postural hygiene or the bathroom- follow primary classes normally. In school, in his classmates, in the teachers, too have found full support. Because, the parents acknowledge, they had never had any close reference to a person with achondroplasia. “The only one I had was the circus. It’s not cool at all. I ask that this condition not be used for the show”, Maca blurts out, alluding, for example, to the still existing comic bullfighting figure.
“You continue to see behaviors that can be improved. We must instill more respect for those who are different and that continues to be our workhorse,” Miguel’s father settles.
Do Maca and José believe that progress has been made?. That your child will not have to experience what other adults with achondroplasia did? Something yes, they admit. “But it remains a lot of work ahead. It is true that children now have other sensibilities, which have improved emotional intelligences, that diversity has entered the classroom… Perhaps it is no longer the same. But you keep seeing behaviors that can be improved. We must instill more respect for those who are different and that continues to be our workhorse”, ditch Miguel’s father.