What is the rare Gaucher disease and how does it impact patients, families, and life sciences? Is enough emphasis being placed on research and discovery for rare diseases? And what are the patient-centered approaches that best serve those battling rare diseases? We will get those answers and more in this episode with Tanya Collin-Histed, CEO of the International Gaucher Alliance. Tanya has been a longtime driving force in supporting patients with rare diseases and advocating for world-class healthcare. Her work has been nothing short of groundbreaking and she's become the go-to person for patients, medical practitioners, industry, and governing bodies. As a mother of a child with Gaucher disease, she brings a unique, first-hand, and compassionate approach.  

--------------------------------------------------------

Episode Transcript: 

00;00;00;00 - 00;00;25;09 

What is the rare gosh disease? Is enough emphasis being placed on rare diseases? And what are the patient centered approaches that best serve those battling rare diseases? We'll get those answers and more on research in action in the lead to the world. Hello and welcome to another episode of Research and Action, brought to you by Oracle Life Sciences. 

  

00;00;25;09 - 00;00;49;25 

I'm Mike Stiles. And today we have a truly inspiring guest. Tanya calling his dad, CEO of the International Gosh Alliance, has been a long time driving force in supporting patients with rare diseases and advocating for world class health care. Our work has been nothing short of groundbreaking. She's actually become quite the go to person for patients, medical practitioners, industry governing bodies. 

  

00;00;50;03 - 00;00;52;01 

Tanya, thanks so much for being with us today. 

  

00;00;52;14 - 00;00;55;04 

Thanks, Mike. It's an absolute pleasure to be here. 

  

00;00;55;19 - 00;01;05;11 

Well, before we get into the incredible work you're doing, let's get a baseline understanding of exactly what Gaucher disease is and just how rare it is. 

  

00;01;06;00 - 00;01;37;11 

Okay. Well, as a caregiver, I'll give a lay lay version to you. So it's a genetic condition and it's inherited. It's caused by a storage disorder. And that is because people with Gaucher have a deficiency in an enzyme. And the function of that enzyme is that it's in the body to break down substances. And because there isn't enough of that enzyme, the substances store in different parts of the body. 

  

00;01;37;25 - 00;02;05;17 

And it really does depend on what type of disease you have to how the disease affects you. But all patients can have a large liver and spleen. They get anemia, they get bruising where the blood doesn't clot properly and bone pain and bone damage due to the cells being in their bone marrow where which is where the blood cells are made. 

  

00;02;06;02 - 00;02;42;09 

Now, for patients who have type two and type three, there's also brain involvement and that really ranges from patient to patient. But that can include things like cognitive impairment, seizures, hearing and sight loss, unsteadiness in their movements and tremors. Now, it's it's a rare disease, as you say, and roughly it's around one in 100,000. However, this will different differ from region to region and also from type to type. 

  

00;02;42;21 - 00;03;11;18 

So historically, type one cases, disease is the most prevalent. Then we go into type three and then type two is like what we would call ultra ultra. However, as we become a much more globally connected community, we are seeing that there are many more patients with type two and Type three in Asia, whereas in sort of Europe and the West, we see more Type one patients. 

  

00;03;12;05 - 00;03;27;29 

Yeah, well it sounds like just that one issue, the the deficiency of that enzyme can cause countless problems all over the body. It already makes it obvious why this is such a difficult disease to get a handle on. 

  

00;03;28;17 - 00;04;03;25 

Yeah, absolutely. And I think the thing is, is that often when patients become ill and they go to maybe their general practitioner, you know, and they describe the, you know, how they feel that there are lots of things that could be wrong with patients. And therefore often patients have what we call a sort of diagnostic journey, a diagnostic odyssey where it will take a long period of time for them to actually get diagnosed. 

  

00;04;04;12 - 00;04;12;04 

If someone is diagnosed and they do get a correct diagnosis for, gosh, what are the typical outcomes? 

  

00;04;12;20 - 00;04;38;28 

Wow, that's a good question. So again, this goes back to whether or not you have type one, Type two or type three as a rare disease. We are incredibly lucky. So over 30 years ago, there was a medicine developed called enzyme replacement therapy, and this was developed and it what it does is it puts the deficient enzyme back into the patient's body. 

  

00;04;39;06 - 00;05;00;14 

So it's a bit like, you know, when you've been men. Tom So you've been, you know, you start up or your waist and, you know, you put it to one side and then the binmen come and they empty it, and then you start to store it up again. Well, of course, it's a bit man dotcom, you know, that storage gets more and more and more and starts to affect the average around it. 

  

00;05;00;20 - 00;05;34;04 

So that that's a sort of good analogy for go phase disease. But because this enzyme replacement therapy was developed and it was it's like an infusion. So patients either have it once a week or once a fortnight, it puts the enzyme back into the body, gets rid of all the storage and a significant proportion of patients. If they get treatment early on and they get the right dose of treatment, then they can actually live really good lives with great outcomes. 

  

00;05;34;10 - 00;06;05;22 

Now here it's important to say that enzyme replacement therapy is for the non neurological aspects of the disease. So that is your liver, your spleen, your bones. Now it doesn't cross the blood brain barrier. So the type for patients with type two and type three, they still have the all the neurological aspects of of the disease. So if you're type one, it will depend on where you live in the world, whether or not you get treatment. 

  

00;06;05;22 - 00;06;13;28 

And that's some issue. But if you do get treatment and you get good clinical care, then you can expect to have a relative normal life. 

  

00;06;14;18 - 00;06;31;20 

Well, and unfortunately, the reason the world has you as such a strong advocate is that this is a disease faced by your own daughter. Tell us about her, what her symptoms were when they started showing up and that journey that you mentioned of getting properly diagnosed and treated. 

  

00;06;32;10 - 00;07;01;05 

Of course, yeah. This is this is going back a few years ago now. So in 1995, Maddie was my daughter, Maddie was 15 months old. And it was towards the end of the year and we just noticed that she just wasn't that well. And she had quite a low mood and a cold. And, you know, like many pet parents, you know, she was was still quite young. 

  

00;07;01;05 - 00;07;29;11 

So we took her to the doctors and they were like, yeah, she's got a you know, she's got a throat infection, She's got ear infection. You know, hear the antibiotics go away If she doesn't get any better, come back. So a week goes by, ten days go by. She's she's not any better. So we took her back and at that point, the general practitioner said she's very pale, if you notice that she's very pale. 

  

00;07;29;25 - 00;07;47;12 

And we was like, Well, yeah, we have noticed, but that's why we just thought it was part of her not not feeling great. So he said, I'll tell you what he said, I think we should you should go to the local doctor, local hospital and they'll do a hemoglobin C what her, her blood types are, and we'll take it from there. 

  

00;07;48;13 - 00;08;20;01 

Well, that from that morning, basically, we went on a three month journey to the local hospital. Her hemoglobin was 6.4, where it should be around 12. She was admitted she had a number of blood transfusions. On examination, they found out she had a large liver and spleen. We were given the diagnosis of leukemia. So that was obviously very, very challenging for us as a family. 

  

00;08;20;02 - 00;08;55;05 

She was our first born. Now, at this point in time, we lived not far from London, and the local hospital had shared care for pediatric pediatric oncology with Great Ormond Street Hospital, who most people would have heard of. So we were taken by ambulance to Great Ormond Street Hospital. We were admitted onto the oncology ward and it was like a little conveyor belt of all these little children going through for Beaumaris to aspirations so that they could give her a final diagnosis. 

  

00;08;56;05 - 00;09;23;16 

Actually, after waiting a number of hours, we were told that she didn't have leukemia, but they suspected that she had something called Go Shay's Disease, which was a very rare disease. Now, you will remember I previously set about this diagnostic journey and diagnostic odyssey, and it takes a long time to be diagnosed. Now, ours was not a typical one for a patient with rare disease. 

  

00;09;24;02 - 00;09;56;11 

And it goes back to what I said about there being that new medicine in the early 1990s. And because it was approved, the company put investment into awareness and actually Great Ormond Street Hospital had b