Gaucher Voices: Living with Gaucher disease in Central Latin America

English translation:

Dr. Gustavo Cantor: Good afternoon, everyone. Thank you for joining us. I’m Dr. Gustavo Cantor from the Haematology Department at Durán Hospital in Buenos Aires. It’s a pleasure to connect with you all. The purpose of this meeting is for us to get to know each other and discuss Gaucher disease. We’ll focus on understanding how it’s typically managed in different countries, identifying common challenges, and ultimately, striving to improve diagnoses, disease management, and treatments. I’m particularly interested in hearing about your experiences in your respective countries, as we have participants today from Argentina, Peru, and Guatemala.

I’d like to start by inviting you to share your diagnostic journeys. We know it can often be a long, difficult, and winding path until you finally encounter a professional who identifies Gaucher disease. Please tell us how you ultimately received your diagnosis. This is an opportunity for everyone to share their experiences.

Ricardo Montenegro: If you don’t mind, I’ll start. My name is Ricardo Montenegro, I’m 78 years old, and I’m an engineer living in Castelar – which, for those unfamiliar, is a suburb outside of Buenos Aires. In my case, Gaucher disease was discovered about seven or eight years ago.

It came to light as a result of a planned surgery. I had a shoulder problem from swimming and was scheduled for shoulder surgery. As part of the pre-operative process, they sent me for all the necessary tests. During that time, the doctor noticed I had low platelet counts. She asked me if I bled easily or if bleeding lasted a long time when I got injured. I told her no; I had never experienced any problems. I grew up in a rural area with lots of branches and thorns, so I was constantly getting little cuts, but I never had any issues with bleeding. The doctor gave me the go-ahead for the surgery, but I ended up not having it. However, she continued to investigate and conduct various tests. Finally, after almost eight or nine years, she told me that Gaucher seemed like the most likely explanation.

I had the tests done at a lab that no longer exists, and the results came back positive. That same year, in September 2018, specifically on September 16th, I received my first infusion. At that time, my platelet count was 59,000. After a year, it had recovered to 110,000, even reaching 132,000, but then it stabilized. I’m currently at 120,000, and I’m doing perfectly fine.

Dr. Gustavo Cantor: What you’ve shared is a clear example of what often happens: first, it takes a significant amount of time and effort to reach a diagnosis. And in your case, Ricardo, the age at which the diagnosis was made doesn’t matter; a diagnosis can occur at any point in life. Ricardo is a resident of Castelar, and now I’d like to hear from someone outside of Argentina. Could someone from another country tell me about their journey into the world of Gaucher?

Rigo: Good afternoon, and God bless you. I was diagnosed when I was 13 years old; I’m 47 now. When I was 13, I was hospitalized at San Juan de Dios Hospital. They admitted me because my gums were bleeding, and I also had bruises that would appear with the slightest impact. But the main reasons for my admission were the bleeding gums and a very swollen stomach. So, the doctor transferred me to San Juan de Dios, where they performed an open biopsy. From that point on, I was diagnosed with Gaucher disease. We searched everywhere, but there was no treatment available at that time. Then, 25 years ago, I tried to go to the United States because I knew the medicine was available there. They told me it was expensive, but I didn’t care. I tried, but for reasons God knows, I couldn’t go. Around 12 years ago, in 2015, my blood vessels were affected, my lung became infected, and everything became complicated.

Dr. Gustavo Cantor: How long did it take to get the diagnosis; from the time your symptoms started in adolescence?

Rigo: It was later. To be honest, the diagnosis came after they had already admitted me. I was hospitalized in San Juan de Dios for three months, and here in Guatemala, they gave me the diagnosis afterward. But there was no medicine; the treatment wasn’t available, and it was expensive, so not everyone could afford it.

Dr. Gustavo Cantor: That’s something that happens in many places, and it certainly happened here in Argentina too – that entire period where patients were diagnosed but no treatment was available. That’s very true. Does anyone else want to share a bit about their early life story?

Marta (Candy’s mother): Can I tell Candy’s story? I’m Candy’s mother.

Candy: Hello.

Marta: She’s three years and six months old now, but 13 years ago, when she was six months old, she started turning yellow. Her liver and spleen also started to enlarge. As a baby, I didn’t realize it immediately because she hadn’t started eating solid food yet; she was only on baby food. But when her stomach started to get bigger, she stopped eating, and I took her to the healthy children’s centre here at Roosevelt. The paediatrician said Candy wasn’t normal, and they hospitalized her immediately.

Dr. Gustavo Cantor: Where are you from? Which country?

Marta: Candy is from Guatemala.

Dr. Gustavo Cantor: Okay, perfect.

Marta: Yes, so at the hospital, since it’s a public hospital, it took a while to get Candy diagnosed. I just watched as the doctors met and discussed what she might have. They started doing several tests, and all the tests came back negative. Until then, I thought the baby had nothing serious. But her liver and spleen weren’t normal, and her platelet counts were already very low, as were her myoglobin levels. At that time, Candy’s diagnosis was quite complicated because the hospital didn’t perform those specific diagnoses. I remember Candy’s father decided to emigrate to another country, and I became desperate at the hospital because I had two other children at home. My dad said he would leave them there, assuring me that Candy wouldn’t be there long and we’d be home very soon. But something in me told me that something tough was coming. I decided to take Candy out of the hospital and go home to care for my other children.

Then, I remember talking to the haematologist who was there and telling her my decision to leave and care for my other two children. She told me, “I can’t let you go. Candy has a disease that I consider very rare.” She said, “Look, if you promise to stay with me, I’ll help you.” I asked, “How are you going to help me if you don’t even know what she has? Besides, if you send me to take tests abroad, I don’t have any money. We’re going through a difficult time. All I can do is go home with my children.” And he told me, “Leave her alone. Leave her alone, and I’ll take the test and send it to Argentina. Just give me two more days. Can you wait for another two days?” she asked me. She was more interested in Candy’s case than in my concern for the other two children at home. She told me, “I’m going to help her. I give you my word that I will. No, you’re not alone.” And thanks to that haematologist – I always bless her – she was an angel God placed in our path who accelerated Candy’s treatment.

At two years old, Candy no longer had a huge abdomen; at one year and eight months, Candy already had a very large abdomen that was about to burst, and her platelets were already very, very low. I remember the haematologist transfusing her every 20 days while we were requesting the medication from the state. But thank God, God opened the way, and we got it. Candy’s medication is now under legal protection. The legal protection was granted in favour of the girl, and then we received some good news. I remember that Candy’s test results took three months because the doctor had sent it to Argentina. Candy’s result came back positive for Gaucher disease, and I thought no one would give me the treatment. I thought no one would help me, but along the way, I found good people who helped me a lot with Candy. We were able to request the medication under patient protection, and the hospital started providing it to us. I know it’s a very tough journey; it’s been very difficult because sometimes there are doctors who, instead of helping you, create obstacles. They put obstacles in your way, hurdles, yes, yes, difficulties.

Dr. Gustavo Cantor: You, Marta, touched on a very important point, which isn’t just the issue of diagnosis, which is sometimes difficult and not accessible in all countries, or that haematologists don’t have Gaucher disease as their first option when cases like Candy’s arise. This tells us a little about how management is difficult in different countries; it’s different and difficult in various countries. I’d like to hear from Agustín, I think he is also here in this meeting. Agustín?

Agustín: Yes, yes, good afternoon, how’s everything going there?

Dr. Gustavo Cantor: How are you? How’s it going? Tell us what the usual management of the disease is like, how they manage it. I imagine the vast majority are on enzyme infusions. I wanted to know if they do it at home, if they have to go to the hospital, what access to the medications they have is like, if it’s easy, if it’s complicated in different countries. In Argentina, at least, we know that enzyme replacement is covered by social security or the state, but I’d like to know what it’s like in other places and how easy or difficult it is to access the treatment and where they get it.

Agustín: Good afternoon everyone, my name is Agustín, I’m 26 years old. Thank God and the strength I always had the treatment at home; I was diagnosed with the disease at 6 and have been on uninterrupted treatment for 20 years. Today, I’m receiving infusions at home. The treatment first began at a hospital, then I started doing tests little by little at home, partial ones. Well, today, I’m receiving infusions at home. A nurse comes to my house, I do the infusion at home, and yes, as the doctor here said, the constant struggle to get that medication every 15 days is having to run after the lab, after the health insurance. Luckily, and thanks to that persistence and a fairly disciplined job, I manage to get the medication every month, but in itself, it’s not that simple. So, well, for that matter, today I’m on enzyme replacement therapy, with home infusions every 15 days. I infused today; I finished the infusion two hours ago.

Dr. Gustavo Cantor: Well, we know that what Agustín did was go home, they gave him the medication, and then you can continue with your normal life.

Agustín: Yes, luckily, that was something that helped a lot with the infusion’s day-to-day routine, because it meant avoiding transfers, avoiding travel, avoiding hospitalizations. Here, for example, to get the infusion, they had to make it an outpatient procedure, meaning it starts and ends the same day. So, I had to go to the hospital, reserve a room, and it was a whole process that took time and also caused stress. The home infusion is very practical.

Dr. Gustavo Cantor: Okay, Jacqueline made a comment here, I don’t know if you want to share it with everyone. Jacqueline Emilse is from Guatemala.

Emilse Jacqueline: Hello, how are you? Yes, what I was telling you is that here in Guatemala, unfortunately, it’s very difficult, not only to obtain the medication, but we also have to get to the places. For example, Don Rigoberto, who is in another department of Guatemala, has to leave at dawn to get to the insurance company to be able to get the medication. We still don’t have the option of a nurse or someone coming to our homes. We have to figure out how to travel to the place ourselves, because they only do the infusion there, and after that, someone else doesn’t buy the medication. Well, for example, Don Rigoberto is running out of this medication for two months. We have to reorder it. No, until they run out of medication, then they tell us, “Look, we don’t have medication for you.” Keep calling, calling, calling, and on top of all that, we’ve already gone two or three months without the medication.

Dr. Gustavo Cantor: Okay, and in Peru, how’s it going? How’s the medication coverage?

Alexandra, you’re from Peru.

Alexandra: Hi Gustavo, I’m Alexandra from Peru. I am the president of the Lysosomal Alliance in Peru, and I am also a Gaucher patient. Yes, I wanted to comment very quickly on the previous question based on my experience as a patient. It’s very specific. My diagnosis was, let’s say, I was having very specific symptoms like nosebleeds. Later, as the years went by, I had a hip dislocation, but until then no one related it to Gaucher. After that, years went by, and I got osteomyelitis in one of my legs. So, all those symptoms I’ve been having throughout my years…

Taking the question that opened the floor, in Peru, there is no home enzyme replacement treatment. It is only the patient who goes to the hospitals, whether in Lima or in the provinces. When there are patients in the provinces, the difficulty in accessing the treatment is the logistics of having the treatment sent to the provinces. Many of them, or some of our patients, travel to the capital to receive enzyme replacement treatments every 14 days. The greatest access to enzyme replacement treatment is through Social Security. But there is also access in the Ministry of Health, which are the state hospitals. But obviously all of those are through administrative processes. Finally, by following all the processes, you achieve access to enzyme replacement treatment. To a lesser extent in the Ministry of Health, the largest group of patients in Peru receives it through Social Security.

Dr. Gustavo Cantor: Are the costs of the medication fully covered by Social Security? And in patients who do not have Social Security, are they covered by the State? We are always talking about very high-cost medication that practically no one can cover out of pocket, and obviously with money from their work, it is impossible to cover the cost of the treatment. How are they managed in Peru?

Alexandra: In Peru, there are two ways to access treatment. For example, if you work formally and are part of a payroll, then your employer pays your Social Security, subsidized by part of the State. And you receive 100% coverage of treatment through Social Security. As for the Ministry of Health, it also covers everything. And these are for patients who do not have a formal job. If not, it is a subsidized job and the State covers it. The only detail is that they go through an administrative process that can take from 6 months to a year, if you are not actively pursuing that process. And they carry out that process because, since it is a high-cost medication, it has to go through different processes, from the doctor to the financing.

Dr. Gustavo Cantor: And once the administrative bureaucratic process starts, can the infusions be maintained regularly? Or do they have to be renewed every month or every certain number of months? The entire administrative process?

Alexandra: Generally, they are every 6 months in Social Security. There are not so many problems with gaps or lack of access to treatment. In the Ministry of Health, it is another issue because it goes through a financing issue. It may be that you receive all the full months. And then the administrative process, a financing obstacle, it can take between 2-3 months.

Dr. Gustavo Cantor: Okay, Ezequiel, are you there? If you want to tell us a little about yourself.

Ezequiel: Hello everyone, how are you? I’m Ezequiel, I’m 18 years old, and I’m from Argentina. I started my injections about 8 years ago, more or less. I get them done at the clinic here in Quilmes. I’ve had the opportunity to do them at home, but I choose to do them at the clinic. And nothing more than that. Every 15 days I go to the clinic and get them infused there.

Dr. Gustavo Cantor: Okay, perfect. I mean, if you notice, you’re all sharing stories that are, up to a certain point, very similar. The first is the diagnostic journey until you got to the doctor. Hello to Ezequiel’s mom, good afternoon. Up until the moment you got the doctor’s diagnosis, what did he say? “They have Gaucher disease.” I think they must all have gone through an administrative process until Social Security, the Social Security Institute, or the State finally managed to administer the medication and begin treatment. And have they all managed to maintain regular treatment? Or have they encountered many obstacles in different countries?

Veronica (Ezequiel’s mom): I’m Veronica, Ezequiel’s mom from here in Argentina. I’ll tell you, more or less, Ezequiel was diagnosed on May 5th, 2016. And they started the infusions on November 11th, 2016. Luckily, it was a diagnosis that the doctor made in the second study he did. Ezequiel’s doctor, Gabriel Fernández, also knew about the disease. He had a little notion of the disease. The second study they did was for Gaucher because he told me, “I’m going to go for something that I know.” And well, he hit the nail on the head.

Dr. Gustavo Cantor: Your doctor is very good. Your doctor is very good that he thought in Gaucher.

Veronica: Yes, the truth is that he did. He did the test. They did a test that it is done here. They pricked his finger. They passed the drops on a paper, and they sent it to the laboratory. There they gave me the diagnosis. After 4 months, they started the infusion. And since then, he has been infusing for 8 years, and he never stopped being infused, luckily.

Dr. Gustavo Cantor: Perfect, we have someone here who raised their hand. I would like, if you want to introduce yourself.

Elsa (Jacqueline’s mom): Good afternoon, my name is Elsa, from here in Guatemala, Jacqueline Peña’s mom. Well, it’s a very beautiful story that makes me remember everything that I lived through with Jacqueline. And truly, until today, I feel that it has been a mission accomplished, as we talked about with her, right? Because now she is the one who takes care of herself, the one who has to go alone to treatment, has to work to be able to have the treatment, and all that. And my journey in life was quite difficult. Back then, at that time here in Guatemala, the specialist told me – he told me that he was a graduate in England – and he told me, “Madam, I wash my hands. I can’t do anything for your daughter. I don’t know what she has. Her stomach is going to burst, Jacqueline’s stomach will burst at any moment, and that’s where she will stay.” And then I said, “And now what do I do?” We were practically homeless. We didn’t have any money left for anything because everything was spent in the hospital: “What test is this? What other test? And this and that.” And she had too much nosebleed and all that. And so now I come back to remember all that, and I say, well, it was something very difficult what we lived through. But thank God, there came a time when at that time I didn’t even know about God, right? And the thing is that some doctors came here to Guatemala. And they were the ones who wanted to take – I mean, they were already leaving, they had already packed everything to be able to continue back. But at that time, I said, “This is our chance to be able to go.” And we went. I didn’t even know, I didn’t understand what they were speaking because it was only English and so on. In that, there was a person who really helped us. And one of the doctors was interested, and he said, “Let’s uncover the equipment again,” and she was a candidate to travel to the United States. She went for six months. That was something very difficult for me. But when she returned, I thought she was already healthy.

I thank God that she was able to get diagnosed and get treatment. I tell my daughter we made it; we are going forward. My children are now all with me. That is great.

Dr. Gustavo Cantor: Thank you for sharing your story with us. We are finishing now as we have been talking for a long time. We have a lot of things to share; we have a lot of things in common. We hope that in the future, diagnosis and treatment will be easily accessible. Thank you everyone for participating, and thanks to Alexandra, to the International Gaucher Alliance, and the Lysosomal Alliance of Argentina. We need to work together to make the lives of patients better. Thank you everyone for sharing your beautiful stories. We have to meet again and talk more. We can live better; we can live normal lives. I am thankful for the good doctors we have.

Alexandra: Thank you, Doctor Gustavo. A strong hug to everyone.