He Stopped Talking After Showing Progress: Autism Regression Explained with Dr. Muzammil Shafi

In this powerful episode of Autism Labs, host Mike Carr speaks with Dr. Muzammil Shafi, a board-certified radiologist and neuroradiologist and a father of a profoundly autistic son.

Dr. Shafi shares both his medical expertise and lived experience navigating autism diagnosis, sudden developmental regression and the long-term realities of caregiving for a nonverbal child.

The conversation explores early autism signs, loss of speech after initial progress, medical uncertainty, gut-brain connections, dietary interventions and what current neuroscience suggests about brain plasticity and future treatments.

This episode is especially valuable for parents and caregivers navigating profound autism, autism regression and long-term support planning.

🎧 Topics include autism regression, speech loss, gut-brain connection, autism behavior changes and caregiving challenges from both a clinical and parental perspective.

Watch the full episode here: https://youtu.be/xlHc947wU0k?si=JS7lsmiXQsSME0uL

Transcript

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Mike Carr (00:05):

Welcome everyone to another episode of Autism Labs. And this week we have a really special guest. He is also a dad of a profoundly autistic son. His son is 18 years old, whereas ours is 36. But more importantly, he's a medical doctor. And so we have someone that's got a neurology background, a certified. Muz, I'll let you tell everyone what you're certified as, because I

Dr. Muzammil Shafi (00:26):

Think you've got

Mike Carr (00:26):

A dual certification. And then tell us a little bit about yourself and your son and your journey.

Dr. Muzammil Shafi (00:31):

Mike, thank you so much for having me. First of all, I'm here in Houston, Texas, and I've been here for 15 years. Before that I was in Baltimore. And before that, I grew up in Kentucky. I am a medical doctor. I'm a board certified radiologist and neuroradiologist. So pediatric and adult, double board certified in brain and spine imaging for adults and children. And so in terms of my training, I was at the University of Louisville where I did my radiology and internal medicine residency, as well as I was a chief resident there. I went to Johns Hopkins for adult and pediatric neuroradiology, and that's where I completed my specialization. And then I moved to Houston and I've been here ever since.

Mike Carr (01:14):

So you've been on this journey for many years, and I think a lot of our listeners would be interested in as a medical doctor and someone that has training in the brain and neurology. When you first heard the diagnosis of autism, and maybe you had to do a little bit of research, what was your reaction? Did you feel like, "Hey, there's still hope knowing what I know about the brain?" Just take us a little bit through those early days if you could.

Dr. Muzammil Shafi (01:41):

Yeah, I can tell you exactly because I was at Johns Hopkins at that time doing my fellowship in neuroradiology and Ismael, who is my son, he was around one and a half years old, I would say. And me and my wife, we both noticed that he had those very stereotypical behaviors of being very rigid with his play with his toys. He would sit and not play with the whole toy. You guys, this probably resonates with a lot of people. He didn't play with the whole toy like it was the car. He wouldn't move the car. He would play with the wheels only. And I was like, "Okay, he's just a quirky kid, whatever. No big deal." But I think at every point, some parent, they feel some sense of disquiet. Is something okay? Is it not okay? And then you make yourself be like, "Okay, okay, he's a young kid.

(02:35):

He's a baby. Kids are weird. They grow out of it." You know what I mean?That's what happens. Kids are quirky.

(02:44):

People will say, "Well, I was like that as a kid and I grew out of it." And he had speech, then he had speech and it was a very repetitive, very stereotypical speech pattern. And again, we were like, "Oh, well, he's talking." And he was very cuddly. But then we also noticed that just random things people would say to us that caused disquiet and would keep you up at nighttime, is that they would say, "He doesn't make eye contact with me when he talks to me." And so as a dad, you remember this, you're thinking, "Okay, maybe he'll grow out of it. Maybe it's okay." And me as a medical doctor in this field of neuroradiology, you're inherently biased to think the best of what's going on. You bet. And so then we were at Baltimore and we said, "Well, let's just get him evaluated." And we happened to be at Johns Hopkins where I trained and at Kennedy Krieger Institute, which is one of the world's best for autism.

(03:51):

And interestingly, there was a speech pathologist there that spent some time with him and said that if he's on the spectrum, he's what we used to call in the old criteria PDD NOS, which is pervasive developmental disorder, not otherwise specified, which is basically - We

Mike Carr (04:09):

Had the same diagnosis for us.

Dr. Muzammil Shafi (04:10):

Kind of like right on the border, too early to tell and maybe he didn't meet all criteria, but giving him a diagnosis so that he can get some kind of interventions. And they said he'll maybe grow out of it. They also said that too early to tell. So we didn't know. And he was interestingly with him, and I don't know if that's the same for your son, we moved to Texas. I started my private practice here in radiology and he was around two and a half years old and he was getting some services here and he was improving. He was getting much more speech, much more social interaction. Then at age four, he had a sudden regression around where over a course of a week he lost his speech, he lost his higher functioning, like toilet training and other things like that. And we went on this journey that a lot of parents go on, which is that, is it something in the diet?

(05:12):

Is it an allergy? Is it some immune thing? And we did the whole caseium-free, gluten-free diet, CFGF. And we went to biomedical MDs also to see did something improve. And I don't know to this day whether it was those things or not, but we did the dairy-free diet on him. We did the food allergies and he got back to normal actually within about a month. He came out of that regression and he was more higher functioning. I remember we went to a trip to Boston and my family members were like, "Wow, he's doing really well." And I remember clearly he knew my number, my phone number. I would say, "What's dad's number?" And he would say the whole seven digits and he would draw houses. I mean, he was still doing some stereotypical autistic behaviors, but what they called a higher functioning child, like higher functioning quote unquote.

(06:16):

When I say these terms, I think people know what I'm talking about. Higher functioning, but that's what he was diagnosed as at that time, level one autism, we call that now. Then at age five, he had another severe regression, and that was a permanent regression at that time where he never regained his speech. And to that day, we don't know what happened. To this day, it remains a complete mystery. He was in his school, which was a school for level one autistic kids with speech. It's called the Westview School here in Houston, a very nice place, geared towards the level one kids on the spectrum. And they called home and they said something is wrong with him. He's crying uncontrollably. We don't know why. And my wife picked him up and he just looked panicked. And over the course of that week, he just lost his speech.

(07:08):

He stopped talking. He stopped his toilet training abilities and then never really regained that back. And that was the hardest thing. I mean, in Houston, we went to Texas Children's. They did lots of tests on him. They all came back inconclusive. They didn't know what was going on. Even spinal tap, MRIs, all normal. And so he met the criteria for what they used to call childhood disintegrative disorder, which was an old DSM in the old medical terminology. This was an old term where you have kids that, for some unknown reason, some immune reaction, encephalitis or biologic reaction, no one knows why, sudden severe regression. So he went from a level one kid to a level three kid in a period of two weeks. And over some time with the help of mostly my wife and me, of course, and other speech pathology and other things, he gained some function back, but nowhere close to where he was.

(08:11):

And so that journey has continued to this day. So he is a profoundly autistic nonverbal child at his 18 that has coexistent medical conditions and that's where we are.

Mike Carr (08:24):

So you had some ups and downs, obviously. And when you think about how you guys managed that valley of emotions, especially when he turns five and he had been improving, he was in a school with those guys and gals that needed less support. Now all of a sudden in a period of just a couple weeks, he's lost a lot of that and you didn't see much improvement. How did you guys handle that? Because I know with Kay and myself, it was tough. I mean, we went through all the therapies, the allergy testing, all the different food diets, testing, MRIs, ad nauseum, and it just got to be burdensome to where finally you just say, well, let's get a program in place where we have the therapies, the OT, the ST, the PT, and we try to improve at whatever rate he can improve at, and we're going to live with that.

(09:11):

We're going to be happy for whatever little or great improvement we see. I mean, did you guys have any tricks or techniques that you learned to manage that emotional roller coaster that you want to share or just any learnings in general?

Dr. Muzammil Shafi (09:23):

Yeah. I mean, I think all of the parents on this end of the spectrum, I think we all have, we would call it like a pain in the heart that never goes away. And it's something that keeps us up at night.

(09:38):

And it's something that's very difficult and it causes a lot of problems with. I'm being very frank. We're adults that causes a lot of problems within relationships, within your family, the isolation, the fact that maybe you can't take your kids certain places, can't travel with them. Your whole life changes and that's an ongoing struggle for anybody. And people are outwardly good at managing it, but inside they struggle and everybody struggles and it's okay to say that. I think that sometimes we as men, we don't talk about that as easily as women do, but we as fathers, the thing that keeps us up at night is who's going to care for my boy when I'm not here? And so that's an ongoing struggle and ongoing issue. And so for us, I think the journey was just not to get religious or spiritual, but I think for us that was important that we very much believe in God and a higher power and a higher being that this was meant to come to us for some reason that we don't know.

(10:41):

And what happened to him, it's a mystery that is beyond our capacity to know. And it's just our job to. We feel like God gave us him. He's a completely innocent person and we feel like, okay, well, it's our job, it's our duty to take care of him the best we can. And I think for us, and again, I'm not saying that this will apply to anybody, everybody has their own belief system, but for us, that very much gave us some peace

(11:14):

That it's not in our control.

Mike Carr (11:17):

So as a neurologist and as someone that's marrying the religious beliefs, the fact that God has put this in our family for a purpose, but also from a scientist's perspective, from a trained medical professional perspective, is there hope, right? I've seen some research recently about, at least on mice, being able to identify certain genes that may be the cause of "autistic-like behavior," and they mess with the genes and all of a sudden they actually see the neurology of the brain change, that some of the synapses or neurons or whatever lengthen and the physical structure of the brain, they're actually able to "correct" to a certain degree. Now this is in mice, and they see a lessening of whatever mice do when they're autistic, which I have no idea. Do you think that is just pie in the sky, very remote or do you think, no, there may be some hope on the horizon where there maybe won't be a cure for autism, but maybe some treatments or therapies that certainly improve communications, reduce anxiety?

(12:21):

What's your thinking on that?

Dr. Muzammil Shafi (12:22):

Yeah, and I get asked this a lot because of my field and because of my son who is on the profoundly autistic end of the spectrum. The simple thing I will say in one sentence is that we as parents have to prepare for the worst, but also never lose hope. I think that both are not mutually exclusive. You can be both. Prepare yourself that things may not get better and that your son or your daughter might not improve in any way and they will need continuous twenty four seven supervision, but there is a lot of hope and there are a lot of different things out there that have shown promise in improving behavior. The one thing that I know, because I treat adult patients too, and we used to feel like, for example, stroke. When somebody has a stroke and then the brain is damaged that, okay, well, the brain is damaged and there is nothing you can do about it.

(13:20):

We know that that's not the case anymore, that the brain, even in adulthood, it is somewhat plastic, that the brain does have this remarkable capability to rewire itself to some degree, not perfectly, but there is hope to change certain things even in adulthood. So that's one thing. As a child, when the brain is developing, of course it's a lot easier, and that's why all of these interventions they talk about is towards the childhood end of the spectrum. But I will say like this, when I started on this journey and we were talking with the biomedical doctors and the MDs and all that, they were saying things and me as a medical doctor, I was like, "This is baloney. I don't know what this is. This is quackery. I don't know." They're talking about this gut-brain connection, they started talking about fecal transplants. Okay, this is back 15 years ago.

(14:19):

And me as a doctor, a medical doctor, and the field of medicine is huge. You don't know about all these things. You're thinking this is just pie in the sky stuff that I don't know. I don't know what this stuff is. They're talking about it, it's so important. Now, fast forward 15 years ago, 15 years later, this is established medical knowledge that there is a huge gut-brain connection. Even the normal GI doctors that are no way involved with autism, they talk about this all the time, that this is a huge thing, that most of the receptors, all of your serotonin in your body is made in the gut, for example. They've done all of these studies that have conclusively shown how much of an impact that has on behavior, aggression, talking, social skills, interaction. The gut-brain connection is a real thing and it's huge. I'm using that as an example that it opened my eyes a lot.

(15:17):

There is a lot of hope out there of things that you think that sound really out there, but they may work on certain kids. About your point about genes, we know, and I think the best way to look at autism now is that many people feel that it's an immune reaction, it's an immune-based disorder in genetically susceptible individuals, meaning that people who have certain genes or a certain cluster of genes, they're more susceptible to having some kind of injury to the brain. Immune injury are environmental related or something, and they're more susceptible to that and it affects the brain. If we can target those, whether it's gene therapy that's coming out now or other ways to alleviate that, I think there is hope. I think that's good to look at that. I think that we should never, as parents, as people in this community, lose hope on that, but we should also be preparing that it may not happen in our child's lifetime.

Mike Carr (16:18):

Right.That's important. Going back to Ismail when he was younger and you guys were playing with the diet, and we certainly did all the same stuff too,

(16:26):

Because our son Michael would get really anxious and angry and upset and for no apparent reason. And so we found out that for a while, don't give him strawberries. He was allergic to strawberries. They did a little skin patch, and of course it swelled up and got really red when they tested for strawberries, and it did impact his behavior. And so he's on not a keto diet, but a low carb diet because he has seizures and low carb diet is one of the things that's supposed to mitigate seizures. I think any parent watching this, the things that we know not to do, this is common sense, is even though your son may just love eating nothing but Cheetos or nothing but ranch dressing or nothing but sugar loaded sugar pops, those are not healthy. They cause the sugar spikes, they cause all kinds of problems.

(17:10):

What we found is that lots of protein, just lots of good basic common sense nutrition, plenty of water, exercise combined with that is a good way to sort of mitigate the gut problems and how that then drives brain health. We as parents that aren't medical doctors don't really understand all of that, but the research we've done says, "Hey, if you eat right and if you keep your microbiome, what's going on in that digestive tract healthy and there's less inflammation, that probably is going to impact brain health. And so you may see a reduction in aggression or sleeping better or whatever. Do you have any, and I know you're not a nutritionist, but just based upon your journey with Ismail and what you and your wife have done, is there anything in particular that say," Hey, at least for us, this has really worked well when we think about that gut-brain connection in terms of what to eat, what not to eat, what to drink, all that kind of stuff.

Dr. Muzammil Shafi (18:00):

Yeah, it's a big question. And of course, what's maddening sometimes for parents is that what works for one kid is not going to work for the other, so my disclaimers, but I will say that our kids have a increased propensity to have food allergies. It's a fact. And they may not manifest in your normal way, like hives, itching, rash, diarrhea. They may manifest in the ways that you're talking about, not feeling good, aggression, other things, because our children cannot communicate. And when they can't communicate and they're not feeling good, negative behaviors increase because they're frustrated. So for us, dairy-free, and this was with a food test, like food allergy testing, that was very helpful to know. And I think nowadays what people do, and there's even a way to do this at home without an MD, there's these online companies, if you look on Google search on home allergy testing, they will send you a kit and you can do it at home and an allergist reviews it, a board certified allergist reviews it.

(19:09):

And I know I'm saying this practically because a lot of our times our kids can't easily go to medical doctor appointments. It's a big. So doing stuff at home is easy. So I'm putting that out there for our parents that you can do that and see what comes up, and it might be common sense to remove them from the diet and see if that gets better. There's no harm. There's plenty of things to eat, right? So there's no harm to, for example, if it comes up that super reactive to dairy, cut it out, see if it gets better, right?

Mike Carr (19:43):

Hey everybody, we're going to go ahead and stop right now and continue the interview with Dr. Muz Shafi next week where we talk about even more things that he's learned as a medical doctor in working with his son. So I didn't want to disappoint, but come back next week for more good information. Thanks so much and have a great day.