San Diego Child Only Known Person In World With This Rare Form Of Disease

Speaker 1: 00:00 When KPBS met the [inaudible] family a few years ago, they were still searching for a diagnosis for their son. Damien's mysterious disease. KPBS science and technology reporter Shelina chaat Lonnie says, San Diego scientists gave them an answer and now confirm Damien could be one of a kind. Speaker 2: 00:18 11 year old Damien Omer slams his back against his wheelchair as he watched this guitarist slash shredding on the TV. Damien's mom greasy. Omar says he loves to jam out to eighties rock legends at his home in the window. Vista, do you want more or are you all done? Do you want to get out where you want to go? Where do you want to go? Damien can't walk. Sometimes he needs [inaudible] Speaker 1: 00:43 feeding tube and he gets help using the bathroom, but he also has lots of fun. While Damien can't communicate, he's always laughing. He just loves being Speaker 2: 00:54 silly, silly noises. Um, he's, he's your typical little boy. Damien has, Speaker 1: 01:04 it's a form of congenital disorders of glycosylation or CDG for short. It's a type of extremely rare disease that causes the body cells to malfunction because sugars aren't properly attaching to proteins. But there are over a hundred different forms of CDG because different genetic abnormalities can lead to this poor sugar protein connection. So father Donnie Omar says, for years they didn't have a specific diagnosis. Speaker 3: 01:30 They were calling it CDG X because there was no subtype to it. So, uh, that was, that was kind of uncertainty is kind of a bit of a downer for us because we were like, okay, how do, how do we include ourselves with everybody else in the CDG community? Speaker 1: 01:46 But when scientists at Sanford Burnham previs medical discovery Institute in LA Jolla took on the case five years ago, they were able to find the mutation. Doctor searched for several years to find another patient with Damien's mutation, but they couldn't find one. And after consulting with the national institutes of health, dr say Damien has a new type of CDG. And as far as they know, he's the only person in the world with it. At his lab in LA Jolla genetics researcher Hudson freeze points to a wall filled with numerous photos of children he's worked with who have CDG or other conditions Speaker 3: 02:20 because that's my sister. And she's also disabled. And so you know, I kind of know what it's like for the families to go through all the struggles that they have. Speaker 1: 02:30 Freeze started working with Damien five years ago when UC San Diego doctors turn the case and Damien skin cells over to him. What doctors and freezes lab found is an entirely new gene and a DNA sequence where CDG can develop, so they're calling this disease, get for CDG, which refers to that mutated gene in Damien's body that's stopping proteins from being guided to the right place. Speaker 3: 02:54 They have helpers, they have chaperones on the way, and with Damien's, one of his was almost completely gone. Speaker 1: 03:01 Free says this discovery is significant because understanding which mutations lead to CDG can help scientists design more therapies to treat it. Speaker 3: 03:09 What this does is to open up a whole new pathway of thinking for people who said, well, I never thought about possibilities in that group of, of genes Speaker 1: 03:20 that could open doors for other CDG patients to also get treatment. In Damien's case for he says there's one drug that he knows of which could potentially help Damien, but it has some uncomfortable side effects. He says the other benefit of finding these genetic mutations is that people can do more family planning if they know the mutation is hereditary and of course failed. These can also get some sense of closure back at the Omar family house. Damian's father Donnie says, that's been huge. Speaker 3: 03:47 It was kind of more of a perspective for us to understand how rare Damien actually is. Uh, that was breathtaking for us because we, we, we found out something about his specific mutation that nobody else has is his special needs. Parents are often left with questions and even with a diagnosis, they'll still want to learn more. We told everybody we take, take it one day at a time. It's all you can do in the meantime. They think it's important for special needs parents. Speaker 1: 04:19 No, they have a community of support and free says the, he believes his Damien's case gets more publicity. More patients like him will be discovered and could potentially get treated. Shelina chat, Lani K PBS news. Joining me is KPBS science and technology reporter. Shelina chaat Lani Shalina welcome. Hi. Glad to be here. So first, you know, now the doctors have been able to pinpoint Damien's disorder. How is he doing? He's fine. You know, he, you know, when I visited him in his home, he's a really happy kid. He likes to play with his brother. He's very silly. He likes to jam out to rock music. He's a happy kid. He goes to school, he has friends. Obviously there's some of the day to day issues that come with having this particular type of disease. I'm like normal functioning issues, but overall he seemed really happy. As you mentioned in your report, CDG is a congenital disorder. Speaker 1: 05:12 How many people have this disorder? So it's an extremely rare disease. I'm the national institutes of health says that there are at least a thousand people in the world with this, but it's very variable because it's based off of different genetic abnormalities. And of course there can be so many different types of genetic mutations in a DNA sequence. And you know, as you mentioned too, there are many different forms of CDG. What makes Damien's particular form so rare. So doctors were looking for several years, they couldn't really place his symptoms in connection to any other form of CDG that they had already found. So when I interviewed Dr. Hudson freeze about this, he said that there are probably around 140 different types that have been identified now. And Damien didn't exhibit based off of the genetic tests that they were doing. Any sort of symptoms relating to those specifically? Like he had some similar ones but they couldn't exactly say see this exact genetic mutation connecting to those. Speaker 1: 06:17 So after they looked for several years and they couldn't find someone like Damien, they were able to determine with help from the national institutes of health that he has a new type of CDG based off of his specific mutations, it's called get four. It's a genetic mutation that makes it difficult for these certain sugars and proteins to connect to each other in the body. And do doctors think his case could potentially help them identify other cases if they exist? Yes. So I think this is the case with any genetic mutation that's found, you know, in the CDG family, anytime you find a new form of the disease, you're opening doors for scientists to be able to figure out how to develop direct therapies for other people that might be exhibiting the same symptoms. Um, and you're also overall gaining more knowledge about how CDG might manifest, um, based on the different genetic mutations that might form. Speaker 1: 07:16 So yeah, this is a really significant discovery because it means one more chance at understanding how CDG could potentially be treated at the family planning level or, um, potentially, you know, to help a child later down the line is CDG something that easily shows up in genetic testing. It's not. Um, so it might help, uh, for me to actually give an offer an explanation of what CDG is in the first place. And so I'm going to toss to Dr. Hudson freeze, um, who was in the, the piece, he's from Sanford Burnham previs, uh, medical discovery Institute and he has a pretty decent explanation of this. Speaker 3: 07:55 So what's this glycosylation thing that we're talking about that's, that's adding very special sugars on the proteins and lipids. And the reason you do this is it helps cells communicate with each other and to know where they are and to know how to function. And if you don't make the right sugar chains, you don't get the right connections. And without those connections, you may not develop a brain in the right way. Speaker 1: 08:21 And so what he's getting at here is that these connections that are made between sugars and proteins, they happen in a variety of ways. There are so many different genes in our bodies that are making sure that these connections can happen, that the sugars are going to the right place. And so any number of genes could do that. And so developing a catchall test to figure out how that's happening is really difficult because there are so many ways that that can be disrupted. You know, now that this has been discovered, now that the, his rare case has been discovered, where do doctors hope research goes next? Dr. Hudson freeze says that he hopes that once this rare disease is fully publicized because it, you know, it took so long for them to develop these tests and to search around the world for patient number two and couldn't find that patient that now that Damien's case is coming to light and these symptoms and kind of what's going on is being explained in this get for gene is being highlighted, that he, that more patients will actually be discovered that have this mutation, but have gone undiagnosed and have been left without answers. Speaker 1: 09:32 And so for him, I think that's what he's hoping is going to happen next. And so they can study this, these rare diseases more and more effectively. I've been speaking to KPBS science and technology reporter Shalina chaat Lonnie Shalina. Thank you. Thank you.