Gene therapy explained (by Dr Ignacio Blanco) Part Two

00:00:18: Hello everybody and welcome back to part two of the second episode of The NF Podcast.

00:00:24: I'm Klaas Rühel, founder of NF Patients United and head of the Austrian patient organization NF Kinder.

00:00:31: I have a daughter who was diagnosed with NF-I when she was just child in twenty nine.

00:00:36: that's where my involvement began.

00:00:38: then i decided to found NFPU to bring all patients organizations together.

00:00:43: In the first part of episode two, we talked extensively about genetics around NF and the challenges of managing and treating NF-one.

00:00:52: So if you haven't listened to Part One I definitely recommend go check it out!

00:00:56: And come back.

00:00:58: in Part Two We will focus on genetic counseling and research projects that are promising with Ignacio Blanco

00:01:05: A clinical geneticist from Spain who will share his expertise with us.

00:01:10: Welcome Ignacio.

00:01:11: Hi

00:01:11: Hello Thanks to invite me, too.

00:01:14: To have this conversation.

00:01:15: thanks.

00:01:16: It's always a pleasure to talk to you.

00:01:18: Genetic testing has made it

00:01:19: possible to diagnose

00:01:21: NF-one patients at very early age.

00:01:25: so let's imagine for listeners that they are parents and they've discovered multiple cafe lay spots with their child.

00:01:33: the child is maybe just four months old five month old.

00:01:37: You go see a geneticist.

00:01:39: They perform genetic testing.

00:01:42: one, two months later the results are back and they confirm that child has a genetic variation in NF-one gene.

00:01:50: That's most likely pathogenic.

00:01:53: It must be very challenging to talk with these parents who suddenly their life changes instantly child with a rare and uncurable disease, so empathy and sensitivity must be very important qualities for genetic counsellor.

00:02:14: Can you maybe talk little bit about this challenge to bring difficult news to new parents?

00:02:23: As we know from medical professionals also genetic councillors bad news are the more difficult words to say to someone.

00:02:38: But as you said, we have to be prepared for that.

00:02:42: We have to prepare all questions that parents will have.

00:02:47: You give a bad news.

00:02:49: Your child has NF-one.

00:02:53: Now that the parent know his child had NF-One they want to know what would happen with him in a few years, and we have to be prepared.

00:03:08: To say it to the patients I don't know.

00:03:12: what i can assure to the parents is that I will be there ,I'll be with them.

00:03:19: We will have this journey together .We will try to make all possible to have good quality of life challenges.

00:03:34: We will identify problems, we'll have sometimes things that are not able to manage but they're there.

00:03:45: the system has to be there and you don't need to forget about this journey for a long time.

00:03:56: at least here in Spain The patient has to go alone, to every single visit.

00:04:07: We have to change that.

00:04:09: we have to be there... ...we had build a team between medical professionals and patients and families in order to go through this unexpected journey.

00:04:25: You have to prefer And of course A parent found out he was He did nothing, but doctors.

00:04:35: We have to be prepared for that.

00:04:38: That's the difference.

00:04:41: How important is it to collaborate with a patient organization and make sure parents or older patients have the chance To connect them through other peers?

00:04:57: Talk about not feeling isolated.

00:05:01: Yes, I think that patient organization has changed a lot the way that patients can find information.

00:05:13: As you can imagine when a parent receives this bad news he wants to know.

00:05:21: and how easy is it for someone who appears having the same problem?

00:05:30: Right now that we are in the world of knowledge, it's very important to identify the correct knowledge.

00:05:40: And if you have a patient organization that can give that knowledge to their patients... ...that can be with them and I would say afford problems for them.

00:05:55: they will become more comfortable.

00:05:57: And patient organizations also help parents or patients to see the reality of that problem.

00:06:07: And, of course medical professional health.

00:06:10: we have to be with patient organizations.

00:06:14: We don't have to look for patients as a problem or someone.

00:06:20: No not at all!

00:06:22: We need together build this team.

00:06:26: Everyone will have their own duties in these teams But we have to be together.

00:06:35: I don't have to care of a patient organization.

00:06:39: that could be the day no more than me.

00:06:42: What happened?

00:06:45: Sometimes some friends or patient associations send me a paper, scientific papers they haven´t read yet!

00:06:55: i have to say it is thanks and also Sometimes I have to explain how i understood that paper,

00:07:09: but

00:07:10: we have to be together.

00:07:11: We have to build teams.

00:07:13: That's the best way.

00:07:16: Coming back to the topic of genetic counseling.

00:07:19: It's how should it ideally be organized?

00:07:22: because it just not Counseling session to the parents when they discovered that their child has NF one later in life.

00:07:28: There are other needs work.

00:07:30: genetic counseling is very important.

00:07:32: can you please elaborate on that?

00:07:35: The first thing is that genetic canceling Is not an act, its a process and as you say Its a continuous process.

00:07:44: if I find child, a five years old child.

00:07:49: I cannot explain all the things that can happen because the patient won't understand me.

00:07:57: however if the patient has eighteen or nineteen i can explain different things also for a patient of five-years-old patients talking about heredity and possibly to transmit disease.

00:08:15: it's not an important issue but it can be an important issue at eighteen years old.

00:08:22: And when a patient has twenty, twenty-five and he wants to have family again or one is new treatment that has pros and cons you again can have good genetic cancer consultation.

00:08:46: The problem we found about genetic counseling is to find the best prepared professionals.

00:08:58: We have another problem that this who has to perform genetic counseling?

00:09:04: How these professional has to be prepare, do it here in Spain right now The health system saying that genetic counseling has to down by doctors?

00:09:21: I'm not agree.

00:09:22: I think that we have good genetic counselors, they are well prepared to give information and allow patients and families to have good decisions about what do you want?

00:09:37: And...I think that when need to implement genetic counseling more and more in the consultations again In this team which has been built genetic control are essential.

00:09:52: You mentioned that the needs of patients change the older they get and also when they become adults, they're no longer being seen by pediatricians who need a new doctor to look after them.

00:10:05: can you talk about importance for this transition in care for NF patients?

00:10:12: That's really important!

00:10:15: The care in the pediatric time It's used to be very well organized.

00:10:24: Doctors are prepared with patients, for example, for NF-I.

00:10:33: Also if you find the different specialists all of them are pediatric specialists You'll find the neuropediatrician The rheumatologic pediatrician.

00:10:46: All are pediatricians.

00:10:48: Then when you arrive to the adulthood, You have a neurologist, a neurosurgeon, a geneticist.

00:10:58: They don't use two words together and it's a mess because patients get lost in translation.

00:11:07: Because if your doctor is very good at that area but doesn´t care about all other problems we need introduce multidisciplinary teams for rare diseases such as NF-one in order to allow a very good transition from the pediatric area, and I will introduce another point that is very important in NF one.

00:11:38: We know a lot of what pediatric patients with NF-One could have but we need more about what is expecting in the adulthood.

00:11:50: Right now we are starting knowing which are the risks of patients with NF-one.

00:12:00: a few years ago, We realized that women with NF one has some more risk of having breast cancer.

00:12:10: What about osteoporosis?

00:12:12: What about dementia?

00:12:14: What About long problems?

00:12:18: We have studied a lot of patriotic patients, but we need to know the real natural history of the disease in adulthood.

00:12:29: And for that we need multidisciplinary teams who work together so as to understand what is happening and how are their relationships between different specialties?

00:12:41: This has been an interesting challenge over the next few years.

00:12:46: and also one doctor who is doing the case management, whose overseeing overlooking all different assessments evaluation reports.

00:12:56: And interpret them.

00:12:58: then go back to the multidisciplinary team to discuss how can we best help a patient?

00:13:04: Yes it's like in football teams or an orchestra when someone tries to harmonize everything someone who takes care of the multidisciplinary teams and try to lead The effort.

00:13:24: we need this kind of coordinator Whatever is the name

00:13:31: I want you come back to the topic for research.

00:13:33: You mentioned sometimes patients.

00:13:35: patient organizations sent you some papers, so your constantly following new work New research that is being published.

00:13:46: What research project excites you the most at the moment?

00:13:53: I will see that.

00:13:54: Any, any research is make me very interested on...I would say That i'm more excited about knowing why The different manifestations appears in NF-One.

00:14:14: For me it's very challenging to know if a patient will develop a tumor or not.

00:14:21: If they would develop a pheochromocytoma, why there are patients with gastrointestinal tumors and why not?

00:14:30: I'm very interested in knowing how all this is happening.

00:14:36: Treatment is also different area Why different treatments work.

00:14:48: But still, I think that we need to know why things happen.

00:14:54: If we are able to identify why these things have happened... ...we will be able to identified them.

00:15:04: sometimes We think only in physical problems In NF.

00:15:12: one there is a very interesting and challenging area is learning disabilities.

00:15:21: Why patients can have learning disabilities in the context of NF-I?

00:15:27: why patient can have alterations in their way that they develop these tension problems, this bad concentration whatever...why it's happening?

00:15:44: how we try to improve the learning process of patients.

00:15:53: It's a different area, it is not as fancy as the genetic or gene therapy areas but its very important.

00:16:04: and again another area quality-of life.

00:16:10: why patients can be so mad with single neurofibroma?

00:16:15: Another can be ok with thousands.

00:16:20: how we help that patient is mad with a single nerve.

00:16:27: How can we improve quality of life?

00:16:33: I was very shocked, few months ago when i received the call from my colleague here in Spain who has a patient with NF-one, a benign disease but he had so many tumors.

00:16:57: There was nothing to do with him, from the medical point of view.

00:17:05: And I was talking with my colleague and he said we have to find a way... ...to improve quality of life for these patients.

00:17:15: Maybe We won't be able to improve survival But i'm sure that we will need to find ways to improve quality research areas that sometimes are forgotten but very, very important.

00:17:35: You mentioned there's so many different areas in NF-one.

00:17:38: you talked about genetics and osteoporosis or the orthopedic aspects of NF.

00:17:44: we have all the different types of tumors in NF.

00:17:46: We have neuropsychological issues like learning disabilities But also mental health quality.

00:17:58: What advice would you give to let's say a doctor, researcher or psychologist that is thinking about entering the field of rare genetic diseases like NF-I?

00:18:13: I will tell them they have to be passionate.

00:18:19: As you mentioned... The broader spectrum of manifestation of NF-i gives us as professionals an opportunity to learn a lot.

00:18:32: we can be able to improve quality of patients, the quality life of patients with single steps.

00:18:42: There is a lot things to learn and do.

00:18:46: It's challenging it's true.

00:18:49: Maybe We won't get The Nobel Prize But will be able To improve Quality Of Life For A Lot Of Patients.

00:18:59: I always want to share with my colleagues these enthusiasm.

00:19:06: I would say that, for me as a doctor is the complete life.

00:19:10: you have lots of things to do and it's fantastic.

00:19:17: talking with a parent or child in F-One...I know this is difficult because You've got that problem

00:19:26: but

00:19:27: To be as a Doctor It's great opportunity to learn and help.

00:19:35: And I will be so happy that many other doctors, researchers join our effort... ...to improve quality of life for patients.

00:19:47: That would be great!

00:19:50: My final question is if there's any message you'd like to deliver to listeners right now who might be patient or caregivers?

00:20:00: To patients and caregivers that will say, you are not alone.

00:20:05: There're many doctor researchers patient organizations.

00:20:10: that wants to improve quality of life is Not an easy journey.

00:20:16: it would be difficult.

00:20:17: We will find problems But if we work... If we are able to work together I'm sure the journey will be at least not so difficult.

00:20:33: And don't care, talk with your doctor.

00:20:37: try to express what you

00:20:39: feel.

00:20:41: where are the questions?

00:20:44: It's important that Doctor knows how do you feel why you're scared.

00:20:51: Try talking with him and if he finds a doctor who doesn't want to talk with you change the doctor because You need a colleague, you need real team make.

00:21:06: That will be the message that I would send.

00:21:10: Thank you so much Ignacio for talking to me today.

00:21:12: It was super interesting and thank you all for contributions you have made to NF patients and caregivers.

00:21:20: Thanks to you.

00:21:24: This is part two of episode two of the NF podcast.

00:21:28: Hope y'all enjoyed it as much we did.

00:21:31: Again, if you have any questions or feedback for Ignacio or me feel free to write us on any platform.

00:21:37: You can find our contact information in the show notes.

00:21:41: Thanks for listening and until next time!

00:21:43: Bye.