Growing Up With MED13L: Life at 18

In this episode of Growing Up With MED13L, we go back to the very beginning with Belen Fernandez Crespo, mother to 18-year-old Nacho, joining us from Spain.

Belen knew something was different when Nacho was still a baby, long before anyone would listen. He went undiagnosed for eleven years, and when the name MED13L finally arrived, it brought her something unexpected: relief. In this honest and moving conversation, she shares what those early years were really like, from a little boy who was "locked in his body" and could not point, nod, or shake his head, to the small, hard-won moments that changed everything. She talks about the therapies that helped and the ones that were nothing more than false hope, the optician who finally gave Nacho glasses and opened up the world to him, and the communication device he now uses to build sentences of his own.

Nacho is loving and charming, quick to greet you with a hug and a kiss on the cheek. He adores his books, his toys, and climbing steep trails with the parents who go at his pace and never rush him. Belen is just as honest about the uncertainty of what comes next as Nacho ages out of school, and about the fear she carried on her own for far too long. Her advice to other families is simple and hard-earned: never give up, hold on to the small victories, and do not keep your pain to yourself.

Wherever you are in your own MED13L story, we hope you feel a little less alone after spending this time with Belen and Nacho.

Sign up for our newsletter, fill out the family census at med13l.org, and catch up on any surveys waiting for you. When you are rare, everyone counts, and every family's voice helps move research forward.

Transcript

SPEAKER_00 0:00

Welcome back to the voices of Med13L, the official podcast of the Med13L Foundation. I'm Vanessa Diaz, your host for today's episode, and we're continuing our series of Growing Up with Med13L with life at 18. We're doing things a little differently this time. Instead of starting where adulthood begins, we're going all the way back to the very beginning. And we're sitting down with one family who is going to walk us through their whole story, everything they have learned across the last 18 years of raising a child with Med 13L. And they're sharing it with us from Spain, which is a beautiful reminder of just how far this community reaches. Before we meet them, a few quick things that really do matter. If you haven't already, please sign up for our newsletters so you always know what's happening across the foundation. When you have a moment, head over to the Med13L website at med13l.org and fill out the family census right there on the homepage. And if you have any surveys waiting for you, please try to get caught up on them. I know it's a lot, but those surveys are how our researchers come to understand what Med13L truly looks like day to day. And they capture life from your perspective, which is something only you can speak to. Here's what matters most. We're all in this together, and we really do need every family to partake. When you are rare, everyone counts. Your experience, your answers, and your voice help every one of us. So with that, let's get started. Together we are not showing. So we're here today with Belen Fernandez Crespo. She is a parent of a young man, Nacho, who is 18 years old with Med 13L, and she is going to share his story. So, Belen, welcome to the podcast. We're so grateful to have you here, and I'm sure the community is so eager to hear about what life has been like for you for many reasons, including that your son is a young adult and that you live abroad. A lot of the people we've been interviewing so far, the families, they have been from the US. So we would love to hear what life has been like for you navigating Med 13L in Spain.

SPEAKER_01 2:19

When my son Nacho was born, we didn't know anything was wrong with him because everything was perfect during pregnancy and controls and even at birth. But I felt like there was something odd. It was like a feeling I had in my heart. So I was like watching over him and his achievements. I don't know why, it was like a kind of intuition. And I started to realize he wasn't reaching what he had to do at a very young age. But even if I commended my suspicions with his pediatrician, she would not pay attention to my requirements to send him to a specialist or to do whatever was necessary because it was evident for me that he was not developing in the usual way. So my son was undiagnosed for 11 years. When he was a little older, yes, it became evident for everyone that he could not speak, he could not walk, he didn't play, he had no interest in things, he didn't do the same things as other babies or children did. And doctors started searching for something, taking blood tests or doing MREs or very different types of medical tests, and they found nothing. So at the time my husband and I thought that that was good news because if they found nothing, maybe he would um he would in time he would in time catch up with other children. We had that hope, but it didn't happen. And as you have a name for your rare syndrome, it means that there may be investigation, ongoing investigation, and there may be a treatment or therapies or whatever. So for us, it felt like good news.

SPEAKER_00 4:54

During his initial development, when you were noticing that he wasn't speaking and perhaps he wasn't playing, did you get his vision checked? Was it recommended to get his hearing checked? Yes.

SPEAKER_01 5:06

He got his hearing checked, and he needed an operation into his ears because of his infections. He couldn't hear well, but it was not an ear problem in itself. The thing is that all the tests appeared to be perfect, even MRE, MRE, and any anything, but we couldn't understand what was wrong because uh my son was like a blank book. We had to teach him everything, and with everything I mean everything, because any movement he wasn't able to do it. To be able to, he couldn't crawl, for example, and that is something natural for a baby, I think, or he couldn't point with his forefinger because his hands were so stiff, and he couldn't separate his finger his hair, and I had to teach him to point with it. He couldn't not, he couldn't shake his head either. So he was like locked in his body, he couldn't give any type of answer, even if he couldn't speak, he couldn't not or shake his head, even to say yes or no. It was terrible for me to see him in that state because he was very uh impaired, yeah, in every sense. Did you seek out occupational physical speech therapy? Yes, we were recommended, but we had already studied with that later than we had already started, because doctors said each child developed differently. We went to therapies, to different therapies, speech therapy, um physiotherapy, horse therapy, uh, water therapy, any therapy, every therapy, even non-conventional therapies. And we spent a lot of money in those because we were desperate, but those unconventional therapies are useless, and I would say they are sometimes scams. Yeah, there are people who want to get your money and because they know they won't work in your in your child, but as they know you are desperate and you will try anything, that's why they exist, I think.

SPEAKER_00 7:35

Yeah, unfortunately, that's not unique to Spain. It's a global issue where there are a lot of people trying to take advantage of parents that are desperate for help for their children who aren't developing on atypical trajectory. And once you did receive support from the physician and they were prescribing, is it in the United States we have insurance that will then help pay for some of the therapies? But I know from my own personal experience, even if I had the prescription from the doctor for therapies, it's hard to find a therapist that will participate with insurance. We end up spending thousands of dollars on therapy out of our own pocket. Is that similar in Spain?

SPEAKER_01 8:16

No, it's not similar. Uh, the insurance covers for those therapies, but we still seek for more therapies apart from those to complement the therapies we have. But anyway, those therapies are covered by your insurance until your son attends a special needs school. When he attends that school, those therapies disappear because it's supposed that in this school those therapies will be covered and he will receive all of them, and that's not true. Because if he received two days a week of speech therapy, for example, outside the school, in the school, there were no individual lessons, and there were no twice a week, they may be once a week, and my son didn't have uh physiotherapy for years when he started attending his special needs school, even if he needed so much. There were too many pupils and there were too few uh professionals, and uh for so that is why we had to cover with uh our um money for those therapies with our own money, and it is very expensive here in Spain. Yeah, every half an hour is really expensive, yes, because they charge you for half an hour, half enough, not in the in the US.

SPEAKER_00 9:58

It's very small for 30 minutes here. I want to say it's $150.

SPEAKER_01 10:03

It was 160, but well, more or less it's the same. It's euros, not dollars, euros. Working very hard with the therapist and at home, because therapies only take place twice a week, for example, for each of them. But when you are at home, you have many more hours to work. So we also worked here: speech therapy, physiotherapy, everything that I could. I researched to learn how to teach him things and sounds and everything. My son cannot speak. He, when he was seven years and a half, he started trying to produce um sounds or um syllables, but uh they are not intelligible because he's very affected. I think maybe it is his nervous system that is very affected, I don't know. Uh and his point of articulation is not the correct, he cannot protrude his lips, he cannot blow, for example, to say F or S. Nobody understands him, but his father and I. We, when he was very little, uh, we tried pictograms, but he didn't like them. And what he did was that he searched in a book a picture of what he wanted and he showed it to us. That is what he did. Uh later on, we tried a communication device, pictograms, but he didn't like it because he couldn't write at the time. And after that, when he was able to write, we tried again with a device, but with writing, not pictures. And but he didn't use it meaningfully. He used it to play because he loved to hear the sound on the device, so it was not used for communication. But this year we have returned with the device and he's using it for communication. He makes one or two word sentences, and it is wonderful for us, and we are very happy.

SPEAKER_00 12:15

Yeah, that's incredible to be able to in his own way share his thoughts and his voice, right? So you had said that he was slow to walk. Do you remember around when did he start crawling and when did he start walking?

SPEAKER_01 12:30

He never crawled, never. And the physiotherapist started with teaching him how to walk, but without crawling first, quite understand because I had read that cross patterns were very good for his brain. So at home I tried to teach him how to crawl, and I succeeded, but with time, with very much time. But uh the physiotherapist made him stand and she left him alone, but it was something terrible for him because I don't think he felt secure of himself, and he used to fall all over, and he didn't use his hands to prevent because he couldn't. So it was not a very positive experience for him, and he it took us a very long time to make him walk. Even nowadays, he needs your support when he climbs down steps. For example, he cannot do it on his own. I don't know whether it's a problem of his balance system or what, but he cannot, he's not very independent in that sense either. He cannot do things on his own, he needs help. For example, we love hiking, and um Nacho loves to climb very steep trails, even if he cannot do it on his own, but we help him and he feels very happy.

SPEAKER_00 14:18

I love how you're continuing to expose him to those typical joys of life. Do you use any obsessive devices to help him climb up the hills or get back down? I can imagine going up is probably easier than going down.

SPEAKER_01 14:33

Going up is easier, of course, and going down is uh more difficult for him and for us. When he was a child or a baby, we used to carry him in our arms, but now it's impossible because he's very tall, he's taller than me, and we cannot hold him anymore. Um and no, we do not use uh any devices, but our love for him to help him and our patience. Um we are not in a hurry and we do it and we try to enjoy the moment. Does he wear glasses? Yes, Nacho wears glasses. Uh I noticed he couldn't see properly when he was a baby, but uh I had answers like when they are babies, they cannot see properly, but it takes time for them to see. I don't think he could see anything at all. And when he was 70 years old, we could find an optrician who revised his eyes because many doctors said uh they were not how can I explain it? They didn't know how to treat these children, and as he couldn't say which letters he could see, they couldn't tell if he could see or not. Yeah, it is something incredible, but it is true. Yeah, so when he was seven, I found someone who was a wonderful optrician, a very humane person, and with a lot of patience, he examined his eyes, and it was then that that he Nacho could start using glasses, wearing glasses, and he could start seeing the world.

SPEAKER_00 16:21

Did his demeanor change when she started wearing glasses? Did you know did he seem a little bit more engaged once he was able to get a prescription?

SPEAKER_01 16:31

No, I think his eyes hurt because he had many diopteries. I don't know what what to call it. He had many, his eyes were very affected. He had 5.5 on every eye. Yeah, it was very too much, and the glasses were too much for him, so it took him a long time to get used to wearing them, but now he's very happy.

SPEAKER_00 16:58

Vision issues are a part of Medhertino. We see many children with Medhirtino wearing glasses, and my daughter, too. Her prescription, when she was younger, it was plus six and a half, and now it's plus five and a half. So, you know, they say as they grow their eye elongates so it can get a little bit better, but we've been at plus five and a half for a few years now.

SPEAKER_01 17:22

Is it hypermetropy?

SPEAKER_00 17:25

Yeah, she's far-sighted, so she can see really far, but things up close are very blurry for her. So it's the same with natural. Yeah. So what type of classroom setting has he been in? You said he's at a special needs school or he has been this whole time. Was it a classroom that was integrated with typical peers, or was it always just a self-contained classroom?

SPEAKER_01 17:48

It's always been a self-contained classroom. Even if we demanded that he attended an ordinary school, it was impossible.

unknown 17:57

Yeah.

SPEAKER_01 17:58

Not for us, but for educational, for the educational inspector. I don't know whether you have one there. There was no other option. So he has been attending this special needs school all of all of his life since he was four. He will stay there until he's 22. And after that, uh, there are some day centers, but it's very hard to secure a place there, and there are no jobs adapted to people who are so impaired, dependent, because there are jobs for people with disabilities, but who are more independent and who are not intellectually impaired. So they are impaired in other ways.

unknown 18:45

Yeah.

SPEAKER_01 18:46

And the only other option is to stay home forever. So we don't know. There is an uncertain future unfolding before us.

SPEAKER_00 18:55

Yeah. We're so focused on the day-to-day development of trying to get them those basic skills that I think it it's it's hard to imagine what life is like as a young adult and when that happens when they age out of the school system. What does life look like for these kids that such high support needs? Because to your point, what opportunities do they have? There are a lot of opportunities for those that have a level of independence and can do very specific tasks, but for those that need the one-to-one support, it's obviously a much different future. It's something that many families living similar lives worry about. Is Nacho your only child?

SPEAKER_01 19:39

Yes, he is. So even if he was my only child, I felt there was something wrong. Imagine it's something a mother knows.

SPEAKER_00 19:47

Does he enjoy going to school?

SPEAKER_01 19:51

Yes, he enjoys going to school. He gets on well with all of his partners. And but now that he's older, when he was little, he went to a class with seven or eight mates, schoolmates. But now he's in a classroom with 15 mates. So it's not, it has never been tailored to the needs of everyone, but now it is even less tailored to his needs because it's more like they do common work, and some of his schoolmates are not so intellectually, they can speak, they can engage in different activities, but my son is very impaired, and I don't know to what point he can um get advantage of the activities that that they do at school, but he's happy to go there.

SPEAKER_00 20:53

Can you tell me a little bit about what puberty looked like for Nacho?

SPEAKER_01 20:57

Nacho had a very late puberty, he studied at 14 years old, but there were no mood changes, there were no changes in the things he likes, in the things he does. He still is like a child, he has no teenage interests at all. He still plays with his toys and his books, he has not changed in that aspect, so that is something a bit sad.

SPEAKER_00 21:29

Of course. Did you notice any aggression? I know from my experience with other families, even outside of Methertinel, that have similar diagnoses. Puberty really impacts these children that are neurodivergent that struggle to regulate their emotions on a typical day. But going through puberty obviously makes it that much more challenging. So, did Nacho have any behavioral issues?

SPEAKER_01 21:56

Nacho has never had any behavioral issues. Even when he couldn't speak at all, even when he was locked in his body, when he couldn't nod or shake his head, or when he couldn't point with his finger, or whatever, he never had behavior issues, which is something uncommon because when a parent or a child cannot communicate, it is just normal that they had some tantrums or some type of reactions to the lack of communication, but he has never had that type of behavior. He's a very loving and lovable and very charming, and he comes and hacks you and gives you a kiss on your cheek, or he's so lovable.

SPEAKER_00 22:48

I love that. You know, I think it's easy to focus on all the things that these children can't do, but it's important to take a step back and appreciate the more positive things that they bring to our lives.

SPEAKER_01 23:01

Yes. We have always worked like a team, my husband and I. We support each other, we help each other, even before we knew our son had it. So we accept our child, or now our son, we accept his that he's impaired, but we are not ashamed of it. We are very proud of his achievements, we are very proud of him, and we show him everywhere. And that is something that uh everyone should do with his son or daughter, even if they are impaired or not. Be proud of your children, be proud of their achievements, of who they are, because they are something wonderful, they're part of you, yeah, and your family.

SPEAKER_00 23:54

And yeah, how is Nacho with continence for bedtime and during the day?

SPEAKER_01 24:00

In the day he's uh pre-trained, and at night he needs pull-ups because there are accidents, he's not conscious. The neurologist told us that it's that his brain doesn't get the signal that he needs to go to the toilet. It's a problem of his brain, not that he's badly behaved or whatever. We knew that, but anyway, he told us. Um we've been trying everything, but we for the moment, because I'm very positive, I'm a positive person for the moment. He has not achieved to have a dry night, but I think in the future he will. I believe in science, I really do, and I think something that can heal or help them will eventually be discovered or created, or I don't know what words you use when you're a scientist, and that is what keeps me going because when Nacho became a teen, I was a little bit uh I was not depressed, but I became conscious, or I thought that I had run out of time because when he was a child, I thought it's a long way until he will be an adult, but times go time go goes by very so fast, and suddenly one morning he was an adult taller than me, an 18, and I thought I ran out of time. His brain is now his brain is now adult, and nothing we can we cannot do nothing to we cannot do anything to help him. I thought that is what I thought, and for some time I was a little bit depressed, but I I have to tell to myself science will find a way and and also God because I pray, I don't know whether I can say it here, and I trust so much in him, and I think he helps us, even if we don't do not notice it. I think so.

SPEAKER_00 26:22

We're so grateful that you raised your hand to come and share your story and represent Spain and being an advocate for research for Med 13 now.

SPEAKER_01 26:33

I wouldn't like other families to think that their children will grow up to be like mine because maybe their children will be more dependent. So, on that part, I wouldn't like to bring bad omens to them because I think it's important for the community to hear the differences of all of our kids.

SPEAKER_00 26:53

So even though we're all a part of this Med 13L family, all of our kids do present differently, they have similarities, but they're all different. And I think it's important for all of us to hear each other's stories because there may be several families or a lot of families out there that are just like yours, where their kids are just like Nacho and hearing your story and you sharing your story is so important for those families. And I don't think it's a bad omen at all. You're just like us, our heart may look a little different, but it's nearly the same.

SPEAKER_01 27:25

Yes, it was like if you were speaking my mind, and the experience, the experiences you told me were almost the same. Yeah, but mine with a boy and yours with a girl, and your girl is younger than my than Natal, but it's almost the same, and the same uh quote doctors and everything, it was the same. I wish I had known what his life would be like when he was a teenager or an adult, but nobody could tell me because I asked the foundation, but they didn't really know.

SPEAKER_00 27:59

Yeah, we need more families of older children and adults to come and share their story on the podcast and share their experience in the surveys because that's where it can be collated and looked at compared to the rest of the community, and and then that can go in and impact research. I really hope that families listening to this with young adults and adults hear this, come forward and share their story.

SPEAKER_01 28:27

Vanessa, have you seen Project Hail Mary? No, it's a science fiction movie about an astronaut who has to travel to another solar system to try to save our son of an alien, and he meets an alien who is like a rock, and he speaks who through a computer. My son speaks like him. Oh he his name is Rocky, and my son makes sentences just like Rocky does.

SPEAKER_00 28:57

Oh, that's amazing. I'll have to watch that. Is it on Netflix? I'm watching it on Amazon Prime. Amazon Prime, okay. I will look it up. Yeah.

SPEAKER_01 29:07

Project Hail Mary.

SPEAKER_00 29:09

Project Hail Mary. That's nice. I will watch that this weekend actually with my kids. I'll put it on and I'll be thinking of Nacho. Yeah. Is there anything else that you would like to share the Methertinel community? Any advice or any words of wisdom that you would like to share with the community?

SPEAKER_01 29:32

My personal motto is never give up. And I use it all the time. Sometimes you feel overwhelmed, and you are very so stressed and tired, and you think there is no not a way out, but never give up. I think that disability is like a marathon, it's not like a sprint, and you have to endure and work so much to get to the finish line. So never give up. What you have to do is to get like small achievements to get with your child, small. They don't need to be big achievements, for example, body training. This is a very big achievement, but you may plan, let's try to uh show him how to color, for example, or how to hold his pencil, for example, and enjoy the little things that they achieve because they are great achievements for them. And love your children. If you need to speak to someone, don't keep your pain or your fear or your sadness to yourself because I've been doing it for a long time. You can share it with someone who loves you, and you can feel loved and supported by, for example, by your family.

SPEAKER_00 31:01

I love that. Thank you so much for sharing your story. And I do just want to mention that you've raised your hand to be a resource for families in Spain or any Spanish-speaking families that are living in the Methertinel community. They can email info at methertinel.org and we can connect you with Balen. And thank you so much for sharing your story today.

SPEAKER_01 31:21

Thank you for inviting me. I hope I could express myself well because it was very hard for me to get all the things I've been telling you are so deep inside me that I sometimes I found very hard to find the words to express my feelings.

SPEAKER_00 31:38

It was perfect.