7 year-old Miguel Antonio ‘Little X-Man’ Medical Journey with Glut1’s Diagnosis and Keto Diet Treatment
Jessica Antonio, 40 years old, and her family live in Fond du Lac, Wisconsin. Miguel, her kid, is seven years old and is diagnosed with Glucose Transporter Protein Type 1 Deficiency Syndrome, or Glut1. Meeting Miguel, Jessica says “He’s just starting to talk a lot, more than he was before.” The Antonio family is made up of Jessica, Efraín, and their two kids, Miguel and Amaya.
Glut1 Deficiency Foundation “is a nonprofit patient advocacy organization dedicated to improving lives in the Glut1 Deficiency community through its mission of increased awareness, improved education, advocacy for patients and families [, and] support and funding for research. Through Glut1 Deficiency Foundation’s Executive Director, Glenna Steele; Jessica Antonio, part of the Glut1 community says “When Glenna reached out to me about basically, you know, wanting to do an interview about kind of what’s going on in our lives, I was like sure, I’m all about, you can hear my son in the background, sharing our story and trying to help educate because it took us a long time to get a diagnosis, so I’m all about sharing it.”
Can you briefly talk about your medical journey?
“Sure, briefly?” Jessica says, reminiscing on the lengthy diagnosing process. “For my son, he was recently diagnosed… When Miguel was two months old, we started noticing these eye episodes where his eyes would kinda dart in certain directions constantly, and as soon as it started happening, I took him to the doctor, and they thought it was seizures. From there, he went through several different tests [such as] MRIs, EEGs, they thought he maybe had a tumor, but they weren’t one-hundred percent sure of what was going on. When the test results came back, and nothing showed up there would be no explanation for them, and they said ‘Come back in six months, we’ll see what happens.’ And so then, it was constantly a battle of me trying to get answers. Then, when Miguel was two years [old and] he is seven right now, [as for October 2021], he turned seven in September, he hit his first grand mal seizure [also known as tonic-clonic seizure, which causes a loss of consciousness and violent muscle contractions,] and that’s when I knew what was happening before was not the same. He had other symptoms going on at the moment before he had a seizure. He was experiencing inconsolable, and Miguel would just cry so much, it was like a baby was ‘colicky’ but in a toddler. Then, one day he cried all day except for two hours, and my husband [Efraín] and I were beyond ourselves; we didn’t know what was going on. [Miguel] also had episodic ataxia, which is when basically you have no control over your body, so Miguel would all of a sudden kind of fall down and he had no upper body [movement] or his arms wouldn’t work or his hands wouldn’t work; it was like he was a sack of potatoes on the ground; it was just crazy. He also had global developmental delays; he wasn’t able to talk, he wasn’t [always] able to walk, you know, fine and gross motor skills were underdeveloped, so things like that. So, fast forward, after he had his first seizure, he was put on seizure medication, and I just felt that epilepsy was not ‘just it.’ I kept going and kept trying to get answers of what was causing everything because there was so much that happened before the seizure. Then, we started seeing another doctor, who misdiagnosed [Miguel] with another disorder called Opsoclonus myoclonus syndrome (OMS), another disorder that was super rare and our doctor at the time didn’t want to do anything, he just said ‘Oh, we’ll just watch him and I was like OK, according to the research that I did, you need to act now, and so I sought out to a specialist on OMS, and we traveled to Boston, Massachusetts to see him. After hearing our story, he was like ‘No, it’s not OMS; it is something genetic,’ and that’s when it felt like we were starting over, and he said we needed to do genetic testing, so we were going to work with a doctor here in Wisconsin to do the testing and then give the results back to the doctor in Boston. That was not happening as fast as the doctor in Boston wanted, so then he said ‘we needed to get you to another place who’s going to be taking this stuff seriously because it was such a hard thing since nobody knew what was going on, since there wasn’t enough education, there wasn’t enough information for them to look at Miguel and say ‘Oh, this is exactly what it is.’ [Because of this], in 2019 when [Miguel] was four years old, we went to Mayo Clinic in January. [At this time, Miguel was four] and he had his last seizure in November of 2018, almost three years ago.” “So we went to Mayo Clinic in January of 2019, and ‘I swear that doctor was so scared of me,’” says Jessica laughing. “But he finally said, ‘We’re going to figure this out' [and] he ordered tests: MRIs, blood work, spinal tap [or lumbar puncture], you name it, all different kinds of tests, he had that, EEGs, all that stuff, and finally after two weeks, once we got the test results back, they had an answer for us. We went back, and he told us that it was Glucose Transporter Deficiency Syndrome, Glut1 and that there was no treatment except for the medical keto diet, and hopefully Miguel would respond to it because not all kids respond to [the] keto diet. So we were hopeful once we got the diagnosis. Miguel was four and a half when we got the diagnosis, and we started the keto diet in May of 2019. And, since then we have been seizure-free for three years in November,” says Jessica in a soul-stirring note. “It’s been a moment, and all of the other symptoms, after he started the [keto] diet, within two weeks, we started noticing him walking better, his mood was just one thing that was better, and so, when he didn’t have his seizure when he was ‘supposed to’ [which] was kind of like clockwork, he would have a seizure, and it didn’t, we knew it was going to [make] a difference, and Miguel continued to thrive on the diet, and we’ve seen so many successes. And I always get so emotional with this stuff because it took us so long to get a diagnosis. So that’s kind of our journey or Miguel’s journey in a nutshell; there’s a lot of stuff in between there, but kinda on a high level, brief story and that’s where we landed.”
“And the community on the Glut1, if it wasn’t for the internet and social media right now, [because] nobody in Wisconsin had ever heard of Glut1; well, studies or resources say that is one in five-hundred worldwide, however, they think that there’s a lot more kids or a number of people that have Glu1 because it’s so hard to test for, [and] can’t just go around giving people spinal taps kind of thing, and of course, our insurances around here in the United States don’t want to be doing genetic tests on people all the time, so that’s hard.”
Throughout the four years of doubt and unanswered questions, Jessica recites that lack of education on behalf of the medical industry was the most disappointing.
“Most disappointed was the [lack of] education, you know, like doctors not knowing. For us to go four and a half years without a diagnosis was probably for us one of the most difficult [and] disappointing things because I will tell you in the United States, in Wisconsin, I felt like it was me; doctors made me feel like it was me, like I was making this stuff up or that I was like losing my mind and I was just seeing things, you know? That’s what it felt like, and then when I would tell a doctor something, he would just say ‘I believe you' and I’m like, he wouldn’t even look at the videos or look at stuff, and that was so disappointing of how the medical industry treated us sometimes. It wasn't until Mayo Clinic that I actually felt heard.
What were you the most nervous about during diagnosis or treatment?
“Well, during the whole thing, I was nervous about everything with Miguel being tested, being sedated, that always scared me, hoping that everything would turn out OK, but after diagnosis, I think the most nervous part about it was me around us, around my husband, making sure that we didn’t screw up this diet for my son because he’s so young, it’s not like he can cook for himself; it was more around us, more around me failing my son than anything else right now, so I think that’s [what I was more nervous about]. I still get nervous, though, you know?”
What helps you or helped you be the most relieved or calm during diagnosis or treatment?
“What helped? So, I will say, of course, our doctor at Mayo Clinic; he was fantastic, even our dietician, they have [both] been fantastic for resources. And, I will say that the community has been another thing that has helped; they have welcomed us with open arms. Glenna, as well as others; I mean, I took it to Instagram and started sharing our story, and finally other Glut1 moms started reaching out to me and I’m actually really good friends with one Glut1 momma in Canada; she’s got twins with Glut1, so we’ve connected, we’re in constant talking about things and we kinda just help each other out, so that’s what really helped me out.”
Jessica expresses that the diet was definitely the most significant change in their life after receiving a diagnosis.
“Hands down, kids don’t eat like that. I mean, adults don’t usually eat like this, you know? I mean, the cost of it, it’s not cheap.” “When you’re buying a lot of butter, I mean, people wouldn’t go to the grocery store buying eight containers of heavy whipping cream or butter; they look at me like I’m crazy because I’ve got all this heavy whipping cream and butter” Jessica laughs. “So definitely the diet has been the biggest change for us, and I don’t buy a lot of the things anymore to keep in the house just because I don’t want Miguel to accidentally all of a sudden eat it, and I do have some things, but I have them up higher, so my daughter can eat that stuff, but even with her, we’re a little more low-carb now for the rest of us. Yeah, do we eat pizza once a month? Sure, but even though we make sure Miguel doesn’t eat anything, right, or doesn’t get into it. But that’s been the most significant change; it’s the food, the diet, but even not just at home, but at school too. Miguel goes to school, and for them, it’s been a huge change, and it’s been kind of difficult for them and for me because I’m now releasing Miguel to school and their responsibility, and I’m hoping that they don’t screw something up. And they have to make sure that he eats all of his food, they have to make sure nobody gives him any other food you know? or a ‘triggerish’ seizure to lower his ketones, so all those things; it’s been a huge change.”
What qualities do you think good doctors possess?
“Ooh,” Jessica says. “They listen. That is probably the biggest quality. That they’re willing to listen, [they’re] caring, they actually sympathize with you when you’re trying to explain something. I don’t know how many times when we were at doctors' appointments, that it was just like they were trying to get you in and out, you know? They didn’t give you enough time to explain everything, and when I would schedule appointments, I’m gonna tell you right now; that appointment is not gonna be twenty minutes; if you wanna hear Miguel’s whole story, it’s going to at least be an hour, so plan accordingly. And, do your homework and pull Miguel’s records ahead of time so then that way you’re prepared, you know? So those are the things too. Willing to listen, caring, and I don’t know if I can say ‘well educated’ or how to even interpret ‘well educated.’ Glut1 was so rare; I don’t know how to even classify that one because you know, there’s information out there about Glut1, but so unknown, right? I think it’s up to us as parents, as well as these organizations to try to start getting this out more. I think social media has really helped because I have a couple of doctors and nutritionists and different people in the medical field that follow me on Facebook or Instagram, so then that way, hopefully, they’re getting educated on what’s going on, you know? So, I would say the biggest quality that any doctor can have is that they’re caring and willing to listen to you and they’re not just going to shove you out the door.”
Would you also add ‘willing to research things they don’t know in order to help their patients' to what you were saying?
“Yes!” Jessica says. “That’s a good one. Yeah, research, because Dr. Tillema, he’s our neurologist from Mayo Clinic, and it was interesting. He said, ‘I think I may know what this is, but I need to do research and make sure that I talk to a few colleagues as well as some experts to find out if this is truly it.’ Cause, he knew about our backstory; he wanted to find answers himself as well because [of] his curiosity too. I mean, I think that’s the other thing too; doctors [are] curious to learn new things, to not feel like ‘Oh, I am the one who knows the best,’ you know? the 'I am knowing what I’m doing' type of thing, you know? That whole kind of persona that some doctors come off on, but yeah, if they’re willing to research and dig, that’s huge. That’s another thing, because [Dr. Tillema] was all about research; he still researches right now, about Miguel’s diagnosis. He’s always checking in with me and he’s like ‘I heard about this’ or ‘There’s a conference here I’m thinking about going, are you guys going?’ So that’s what I think is cool.”
Jessica also said that doctors want to know your whole medical history in twenty minutes, and that’s something that’s been structured like that from medical school. Medical students are trained so that they get all the important information from their patients in fifteen minutes, no less, no more. And in that range of time, they should gather every information possible that’s significant to their diagnoses such as what their patients did last weekend, what they did ten years ago. That’s why, regarding patient care and the rendering of attention and care, the discussion of whether there should be a change structure-wise in the training of physicians is viable.
“Agreed,” Jessica says. “My aunt, she’s actually in the medical field too. Actually, my aunt and her daughters. They’re all in the medical field. My aunt [has] been [practicing] medicine for thirty-three years and she said that is something. Back when she was in [medical] school, that [wasn’t] something they were taught, you know? That they had to be fifteen-twenty minutes to do that, but now they’re pushing it to doctors at her age, you know? Now, she’s got to be in her fifties, but [as] I said, she’s been practicing medicine for thirty-three years and there’s this culture change where their facilities are telling them ‘You can’t spend that much time with your patients.’ And that’s what my aunt said, is that you don’t even get the whole backstory or you can’t even catch up to see what has been going on since the last time and [patients] are being told ‘You have to schedule another meeting or another appointment if you want to talk about this other issue.’ Why?”
It’s also a remarkable difference that medical professionals are trained to do that and work that way, but patients are not. Patients may not remember or not be able to communicate everything they have in mind in that short amount of time in their disposition.
“Yeah, that’s crazy. That should definitely be changed,” says Jessica.
What did you know about Miguel’s illness while he was being treated and how did your doctors and nurses help you understand it better?
“So, once I was told about the diagnosis, I knew nothing. I’d never heard of it; when [Dr. Tillema] said ‘Glucose Deficiency Syndrome,’ I was like ‘What? What does that even mean?’ So, my research really started in that office, at that appointment with the doctor. That [was] right from the get-go, my neurologist started telling us exactly what it meant. He drew a picture of the body and explained [it] as somebody eating something, you know? Your body separates the sugars and all the other stuff, and how [the] blood barrier takes that and separates it, all this stuff. He just started explaining everything to me so that it helped me understand what was actually going on in Miguel’s brain and what was causing it. Of course, at that time we still didn’t know for sure if it was a mutated gene or if there was something else that was causing it because there’s different forms of Glut1. Miguel’s gene is mutated; I call him ‘My little X-Man,’ so his gene is mutated, so it does not bring the appropriate glucose into his brain. So, that I will say, of course, once he started telling me [about Glut1] I started googling everything there was that I could find out about Glut1, and even [our] dietician, she was fabulous about the treatment. Our neurologist was more knowledgeable about Glut1; he started giving me paperwork, resources, stuff that I could read, and said ‘Here’s where you can find more information,’ and of course, he said ‘If you ever have any questions, you [can] always come back to me; I’ll help you get the answers.’ [Our] dietician was more knowledgeable about the medical keto diet. Of course, I’d heard of [the] keto diet, you know, the weight loss one, and I was like 'Oh yeah, I know that one' and they were like ‘No, you don’t,’ and I was like ‘Okayy.’ So, they had a ton of paperwork; they started giving me some resources to start looking at what foods Miguel can have, what he can’t have, and really learning about what Miguel’s ratio is. We had to spend another week at the clinic, and that’s when they converted Miguel to the keto diet. So, that was fun, but the doctors were fabulous. At Mayo Clinic they have been fabulous; our doctors here in Wisconsin,” Jessica says as she shakes her head, “No; I have to educate them. I bring pamphlets; I print stuff out from the Glut1 Foundation and give it to them, the documentation that our doctor at Mayo Clinic has given us, I’ve shared with them. I have to educate quite a few doctors here in Wisconsin because they don’t know anything about [Glut1], they’d never heard of it before. So, there’s still that lack of knowledge when it comes to it. Even though we now have that diagnosis, they still don’t know; other doctors still don’t know so that’s one of the hard things too [with] doctors here in Wisconsin. And probably in other states as well; I’ve just only encountered the ones here, so our doctors and nurses and dentists, like even the dentists. Miguel’s eye clinic, you know? He wears glasses, so going to his ophthalmologist, if anything, I’m always educating them because if they put anything on his skin, I have to be like ‘I need to check the ingredients on that because I need to make sure it doesn’t affect his ketones,’ and then they start asking me ‘What’s going on?’ or ‘What’s this mean?’ and I’m like ‘Have you not read our chart?’ So [the] doctors that gave us our diagnosis, I can’t say enough things about them when it came to sharing resources and education about Glut1. And otherwise, a lot of times now, I use the Glut1 Foundation, right? I talk with other moms, you know? I run things by my mom pals, with Glut1 mommas and talk about it: ‘What do you do with your kid?’ or ‘How does this work?’ you know? And so forth.”
It’s great that Jessica has that communication and access to information, but at the same time, it’s also not great that their local healthcare system is failing at covering the needs of Miguel, and many more children and adults that have rare diseases.
“And, it’s not just us, right?” Jessica answers about Wisconsin’s healthcare’s ability to help many families with rare diagnoses. “I mean, we’re just one disorder, one genetic disorder. It’s probably the same for a lot of other families, it’s like, I wish there was some type of database or some type of device, I don’t know if you’re familiar with ‘[IBM] Watson,’ the artificial intelligence Watson. It used to be called ‘Watson’ but they came [up] with this tool, it’s an AI that is able to, once a person has cancer, tell you because it’s constantly learning [and] it scours the internet. It used to be called ‘Watson;’ I don’t know if it is anymore but it is more accurate and ‘pinpointy.’ [for] a type of cancer, what a person should base their treatment on or what kind of treatment they should have according to their medical history. I wish there was something like that for all, not just cancer, but for all types of [illnesses and] medications. You could type in a person’s name and it could pull up all their medical records and have everything there for the doctors so them, it’s constantly learning; it’s a learning machine, you know? It’s smarter than us humans; it’s scary. But I wish there was something like that because it’s such a struggle going to a new doctor and trying to explain Miguel’s [history].”
“Oh, we found that Miguel is allergic to a bunch of things, and going to the allergist and [explaining] that Miguel can’t have Benadryl was like a chore. Literally, it took us an hour to go through Miguel’s history, because [the allergist] was asking a ton of questions after I said ‘Miguel can’t have Benadryl.’ And the allergist said, ‘Why can’t he have Benadryl?’ ‘He can’t have glucose’ [I say], ‘What do you mean he can’t have glucose?’ [she says, and then I say,] ‘Miguel has Glut1,’ ‘Oh my gosh, what is Glut1?’ [she says]. And it was just a constant, and I’m like ‘Did you not read his records?’ But that’s the thing, you know? It’s still disheartening that I have to be the one to educate them but I figure out we, myself, Miguel, and my husband, we’ll be doing that for the rest of our lives, you know? To make sure that somebody doesn’t unintentionally hurt Miguel.”
If you had more than one doctor, which doctor were you the most comfortable with, and why?
“We had a lot of doctors. I am pretty comfortable with our neurologist at Mayo Clinic. I’m actually pretty comfortable with our pediatrician here in Wisconsin because, she basically, anytime I ask her she does it,” Jessica says laughing. Because I think she knows, mom knows more right now than her about Glut1, so I would say those are probably the two doctors right now that I trust and feel good about working with. [They’re] Miguel’s neurologist and his pediatrician.”
What do you think patients can do to help doctors treat them better?
“Oooh, what can we do better? Like I said, it’s consistently just hard; I’m swallowing my own pill right now saying about educating the doctors, you know? I think that is, as I said, it will always be my job until Miguel tells me ‘Mom, no more’ Jessica laughs, ‘I’ll do it myself.’ Being open to educating the doctors that they’re not going to know everything, and hopefully, the doctors will be open-minded and listen, right? We’re back to that listening skill; that they’re going to be willing to listen to you, especially new doctors that they’re willing to listen and just, you know, take it in. Another thing I would say too is, and I do this, have a timeline of events and take videos. That’s one thing I learned to [do] so that they can actually see it, cause when I tried to first explain Miguel’s eye episode thing over the phone, they’re like, they had no clue, and I’m like ‘I got a recording so you can watch it.’ So, record things as they happen, documenting things is another thing so that that way they can have a timeline of events, and I have that in a spreadsheet from when Miguel had seizures, the eye episodes, the falling down, inconsolable crying, to whatever, you know, what going on, I made sure to jot it down so that way, when I came in I could hand it to the doctor and say, ‘These are the dates and these [is] how long they lasted’ and that type of thing. Those are the things that I can think of for a parent to help your doctors.”
What changes would you like to see in the future healthcare system?
“Kind of what I said before. Some type of tool or something that is more accessible for doctors to be able to get their research, you know? To be able to find out information, right? The other thing that the healthcare system has to do, is they have to get back to caring. They can’t treat us a number. We are not in a deli line waiting to get our meat or our salad at the grocery store. We are human beings and I’m going to [doctors] with my health issues. If you’re going to tell me that I can only be there for fifteen-twenty minutes, that’s not taking care of me, that is treating me like a number and pushing me along type of thing. That’s where the healthcare industry really needs to get back into; caring and making sure people are taken care of. I mean, that compassion, I feel like I don’t know if it’s just a change in times or whatever is going on, but the compassion for human beings I feel like it’s not there anymore. But something [to do] with research that they can easily get their hands on to start pulling things together, I know that’s probably going to be something more technology-wise if they had it, something like the Watson that [going] to do something in general, but really caring if we’re talking just about physical things that the healthcare industry can start doing. Start caring again and stop treating people like money. That’s how I feel sometimes.”
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