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#140 Patti Hall on Gigantism

by Kira Dineen
February 5th 2021

To kick off rare disease month, author Patti M. Hall joins host Kira Dineen to discuss her memoir Loving Large which chronicles her son’s rare diseas... More

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But today we're exploring more of the pediatric space. My guest today is Patty M. Hall who is an advocate and author. She's a member of the board of directors for Aggro medley Canada. She recently released loving large a memoir about her son's diagnosis with liver disease and for those that are watching on video. Head over to our Youtube channel if you're not. Um here's a cover of her book that you can also kind of see behind her there too. So thank you so much patty for coming on the show. I'm looking forward to exploring your fantastic book. Ah this is great and thanks so much for saying that about the book. It's a rare day when I get to do uh an interview with someone who's read me cover to cover and in the book you share your family's journey with your son erin's diagnosis. One line that stood out to me that was very early on in the book was kind of capturing the experience at the beginning of his diagnostic odyssey and it reads quote, how did we go from sore knees to a brain tumor? I mean, this was only within a few weeks. Can you share how the journey started and what those first few weeks were like for you and ERin and your other family members.

Sure. And we literally did go from sore knees to brain tumor in a rapid rapid succession of medical appointments. So Here we were kid in Grade eight, a kid in grade 10, pretty active boys, rough and tumble, all the normal stuff. I was just as rough and tumble too. So it was no surprise for them to occasionally have a a bumper bruise and and us not to think much of it. And um, there was kind of random complaints starting over a few months of Aaron would occasionally have a headache, but you know, he would be dehydrated. We play that off as we've seen that in sports or he'd been bouncing on the school bus or you know, maybe he'd overdone it the night before, staying up too late. He was 16 almost and we, we downplayed it. But then he, as a hockey player, he made the switch over in At the end of the hockey season, he switched over to football. He thought for fun, maybe he do some football and within three days of the impact training for football, he could nearly not walk because of the joint pain in his knees. So he started saying, listen, this is, you know, as as an almost 16 year old would, it's like, I can't go to school, I can't bear the pain, this is unbelievable.

And I thought maybe it would get better sore muscles. This wasn't sore muscles. So it was an excuse for me to get him to the doctor, which wasn't easy. Bit of a belligerent 15 year old didn't want to see the doctor had been to the doctor I think since he got his vaccinations as a child, we had super healthy kids and um, off to his pediatrician, we go with, he's complaining about the sore knees. But I wanted to also talk about these random headaches which were really just random. There was nothing else that seemed to me to be extraordinarily strange for what a kid was going through. And that led to a series of medical appointments in a couple of weeks. A cat scan, poorly done and incomplete, still revealed a golf ball sized tumor on errands pituitary, which was the cause of what would be later very quickly but still a few days later diagnosed as gigantism and to give people a sense of Aaron at the time. I mean he was in early high school, um, how tall was Aaron at this point? So he was tall, don't get me wrong.

He was six ft five, which felt like an early growth. But you know, we was, I was active in his, his hockey coaching, his dad and I were both active in sports. We saw tall kids all the time and we knew our kids would be tall, genetically. I'm 57. Their dad is a tall man as well. So we expected height. We didn't expect it early, but you know, I also had no conception for when a kid should stop growing as it were. So he was six ft five. We've been measuring them for years. Um, I thought he was a little bit out of proportion compared to his brother and he was tall but not extraordinarily tall compared to some other tall, gangly kids on his hockey team. So it's six ft five when he was 15, although it was extreme. I thought, oh, he must be done now. This must be it. He must just have had it early and we downplayed it as that. We downplayed a lot of things before we realize we've been downplaying what we shouldn't have. And it's hard to know at that time because you know, everybody's different and looking at like, okay, what is abnormal, what is normal?

And the lines blur a lot when it comes to that you do and what you're doing, You don't want to be hysterical, right? You don't wanna be hysterical. I don't want to scare your kids. You don't want to run around saying, let me measure you again. But You know, when I looked at the wall around this time, I looked at the wall just so I could tell the doctor and I realized he was growing an inch every two months in that 12-month period before we discovered the disease. It was, it was rapid for sure. And I'm not saying whether that is normal or not normal, I'm sure kids have so called growth spurts like that. Um, but he certainly was growing at a rapid rate when the disease was discovered. And so once you had a diagnosis, what was the projection for how tall Aaron would become? You know, this was sort of the first staggering moment. Um, it was seven ft four plus. So early testing showed really cool thing. Bone age X rays, which at the time were really cool because we didn't realize what it was going to show, but pretty quickly a pediatric endocrinologist helped us do the math. And it was if he kept growing at the rate that he was based on what's called bone age X rays, uh, he would have been seven ft four plus pube essence growth.

So maybe that as everybody said to me the two or three inches that guy's quote unquote grow just because around when they hit puberty. So that could have put him at 7677. And there's a distinction between people that are diagnosed as you're saying, like before puberty and people that are diagnosed after. Can you explain that difference? Sure. So pre puberty, diagnosed individuals with a pituitary tumor that secretes growth hormone are diagnosed with gigantism, which is even more rare than what it what is known as the adult form of pituitary tumors secreting growth hormone, which is acromegaly. So some people will have heard of acromegaly or they will recognize people who have been identified as acro metallics. But the even rarer form that erin was diagnosed with was gigantism and what made it so was because he hadn't hit puberty yet, which meant that his joints were when the bone age X rays I mentioned, we're done. We could see that his growth plates have closed the epiphany sees that sort of soft piece at the end of bone that turns into hard bone should be closing in the dark gaps to its nearby partner in the joints.

That gap should be closing. Erin's gaps were wide open and his body thought that it was two years younger than um than it was. And so we were, that was what the math projection was based on to show. If he keeps growing at this rate unabated, then we're going to see him in the high seven ft range. And this can be very dangerous in terms of just the toll on someone's body. What are some of the other symptoms that people experience when they have gigantism? So, you know, the thing that I think is seen in Children and also seen in adults. Uh, so gigantism or acromegaly, here's our acromegaly, as some people say, it is most pronounced a lot. We say acromegaly, Canada at the charity, but large hands and feet are really typical. So, um, places where bones can still be moving around the face, the hands, the extremities, You'll see large hands and feet in kids diagnosed with gigantism as well as adults with acromegaly. But in the case of specifically what I know boys with gigantism, thick fingers, a lot of soft tissue build up.

You'll see larger foreheads. You'll see what's called bossing or prominence across the forehead and the brow jaws can be significant. And that's in addition to what's going on with joints. Then there are things that are into the soft tissues like, um, thicker tongues, broadened cheeks, what I call, thick skin. The backs of the hands, the broadness of the nose, a flat affect sort of the nose that's somewhat typical and see these are things that would be happening that we might just think was how our child was changing. If it's also happening. However, with height and some of these other symptoms, then it becomes something to pay attention to. Then there were the things that are other systems like getting into endocrine systems, getting into um sweating, headaches, uh us that are significantly large can be affecting hearing can certainly affect vision, which was something that was happening to Aaron. It's not surprising to see a peripheral vision that's limited.

A lot of people start to complain about impairments that they think are normal growing occurrences that we downplay and certainly vision, hearing and sleep really, really common, but almost always headaches, headaches that can't be explained that we explain away. But once we do something about they keep on coming and I understand from a lot of people that the headache location can be quite specific to, but I'm not an expert on that. And so you were learning so much in just these first few weeks and years to come. I mean, one line that stuck out to me was it wasn't like I could ask someone who had been through this, this is a rare disease as we've been talking about. I mean, how did you end up connecting with the rare disease community so that you could find other parents in similar situations? You know, I suppose I got lucky one way I had to find doctors for him. So in finding doctors for him, I would often say like, have you seen one of these before? Most often the answer was no, I haven't seen, I haven't seen a kid with gigantism sometimes they would say they'd seen someone with Acromegaly, but I was dealing with a 15, 16 year old child and I wanted to know how to help him with this as much as to deal with the symptoms.

You know, I say in the book that I learned really quickly that the people to ask for information with the assistance of DR that was such a good part that I was like, yes, that is the key to like getting through healthcare navigating totally. So I would just, I finally said one day to the soon to be brain surgeon that we found, I said like, has he done one of these before? Like, do you know another family? And she said, actually, yes, and I'm going to get permission from the other family to see if we can connect you. So, although that was tremendously comforting for me. I'd actually hoped it would be comforting for Aaron to find another child coping with what he was. That may not have been what he needed. He really didn't want to sort of embrace what was happening to him until he could do it in hindsight. But me finding this other family, these people meant everything to me that I could say to them, did this happen to you. Did that happen to you. So this now is I know one of these situations, here's the irony of you don't know what you need until you find it. I know that parents, what I call rare moms and warrior dads, we don't know what we need until we find it.

But that moment when somebody else says, oh yeah, my kid does that too is uh, just sets you free. It's not, it's no more comforting um, going through the medical, knowing somebody else has to suffer too. But you know what? Sometimes in the middle of the night when you think something is strange and you just want to ask, It meant everything to me. So I find a home in the rare disease community. Now I recognize myself in other parents and in patients and caregivers. I recognize myself and that that's given me a lot of comfort in the last 10 years. Yeah, definitely. And just being able to, as you start navigating this and continue to do so, I mean, what was your thought process with how much to disclose to Aaron during his teenage years, especially during that first few weeks months with the diagnoses? I mean, how did you balance this with health care providers sitting right with you in talking to you and Aaron at the same time? I mean that must have been challenging. Sure that was brutal. You know, you're, you're still somebody's parent, you know, in those early days, the best thing that happened to me was Aaron led the way he said, I don't want to know uh you as long as you understand and there are some pretty powerful scenes I know in the book where he says to me like do you know what they think and I would say I do and he said good, as long as one of us does And he didn't want to know now, I never knew if he was upstairs googling, it was 10, 11 years ago, I didn't know it was a 16 year old, he was upstairs googling about this.

I didn't know what he was learning on his own but he was really clear with me. So I stuck to what my kid wanted me to do, which I think is the rule for every caregiver and it's a difficult line to walk and I walked in and and other parts of my life they get to run the show, they've got to live in their body, they've got to go through the treatments, we can do everything we can but we're still just the sidekicks, you know where the person beside the bed. So he told me he didn't want to know and that he would ask when he wanted to know where doctors were concerned and this is a whole piece for us to talk about, which I know interests you is nine times out of 10. The problem was that doctors didn't address erin I started not being afraid, they'd say something horrendous in front of him because I was more concerned. They were saying nothing in front of him. In fact, they didn't even address him when he was in the room. You know, some people, some doctors, even pediatric specialists would treat him like he was, you know, adult in a child's body. Some like he had a toddler's imagination for what was going on and ability to comprehend and then others would expect that he had the compassion and instincts and intuition of an adult in trying to take in information.

So it was hit in this and I was always responding to, you never know what you're going to get. Today is a whole new ball game and you know, in the medical profession and particularly here in Canada so much education is done, um, hands on. So it is not surprising to have a doctor, a fellow and intern, a student, a new doctor, a generalist, someone who is on rotation. It's not uncommon to have six medical care providers in an office visit with you. So sometimes you get a long shot question that you can't be ready for and that became part of why I think I was, I was walking around. I always say I was patrolling the perimeter of his life because I never knew what was going to come out and you know, I was always afraid. They'd talk about prognosis and prognosis is something with a disease like this that was almost irrelevant to talk about when we were in active treatment, he had a tumor that was making him grow, robbing him. A vision was affecting his mobility. That was such a priority that we couldn't see far ahead towards prognosis, lifestyle, quality of life.

I didn't want anybody saying to him, you know, you've got a rough road ahead young man when all he was trying to take in was why he had headaches and felt sick all the time. Yeah, I think doctors, you know, and other health care providers to have like we need to keep in mind of like, okay, how old are patients, what should they be taking in and what do we see the day of the dynamics playing out? I mean, there was one scene in the book that I cringed at of just like the doctors and the fellows and everybody that's joining the room like, you know, just being so rude to Aaron and not seeing him and treating him as a person and seeing it more of like a subject. And I mean that just drives me crazy. And you know, the infamy of his disease didn't help here. So while and here's a lovely juxtaposition of conditions for us and probably what makes a good story for other people is knowing that giant giants are famed mythological and everybody knows what a giant is, Knowing that helped us get him diagnosed. I have no doubt because this is a disease which while extraordinarily rare, a pretty significant amount is known about because of the curiosity factor over the last 200 years that no doubt helped Aaron.

But then the infamy also made him a subject as you say. So rooms would inevitably crowd with people who had heard there was a 6.5 ft tall, 16 year old uh, in that room and um, after his surgery to sort of jump ahead rooms would crowd with people because he was growing still very rapidly. So he was Getting up to the height. He is now later on in treatment, he's 6-11 now and you know when you see a baby face looking human being, that is six ft 11 and uh, there's a curiosity that has a hell of a lot more to do with stigma than it does with medical curiosity to be perfectly frank. So there were both sides of the coin for him and those still, those are still very true. So while one thing helped him, the other becomes the biggest lifestyle infringement for him and he'll always have that. Yeah, definitely. Just there's times in the book, you were talking about being on the train and just you guys would have almost a script in your head of which one are we going with today of how you're dealing really with strangers and just rude comments that people say or questions that they ask and you know, I think it seems like, you know, you had a quote in there.

So little was left unchanged that we clung to the goofiness and humor. That was the bedrock of our connection, me and my boys, and I was just like that is that is a powerful line of just, you know, the the comic relief of being able to use that humor. I mean, we've been talking a lot about Aaron and his process with this. How did this impact, you know, the family of your relationship with Justin and how Justin's experience was with Aaron surgeries and treatments? Yeah. You know, I part of me wants that to be a story. I get him to tell one day or encourage Justin to tell. You know, certainly in clear in the book is that my marriage had broke up right around this time and I have no doubt would have disintegrated during this period. Um, but Justin was um he was sidelined. There's no two ways about it. Um, certainly in those really intense first months, we had hospital day after hospital day, which meant that he was he was getting picked up after school, he was getting his usual contact, but you know, there was, it wasn't the care for his for erin's younger brother, I was concerned about it was the the impact on an emotionally immature kid.

He was 13, he knew some of the grave circumstances that were going on. I think you remember the scene before Aaron is going into surgery and um Justin's being pretty insolent about things and actually kind of joking around and then says to me, you know, after he's been saying, why can't my brother run? I'm saying like, your brother can't run, he's in too much pain and than before surgery, you know, Justin says to me like, could he die in surgery? Like, could I have a, could I not have a brother tomorrow? Those aren't things that any child is prepared to deal with, it may not have been happening to Justin, but it was just as close to him as it was to the rest of us. And the way he processed the stress and strain of that while I was attentive to it, I relied too much on him coming to me to say he was concerned, you know, I, my editors always say that Justin became a favorite character in the book that we were always highlighting. Yeah. Is he very charmingly comes up to me later and says like, mom, like, like, my mom has too much to deal with and mom, like, this should be your thing to deal with.

And, you know, he was watching me, he was that someone to watch over me, He still is, I think he still is that totally in tune to if I'm about to break into a cry, he can see it coming. But so I think we did all of um we did everything we could have done the best we could have and that's what I say to every rare apparent is when you're in it, you just do the best you can, you're not going to drop balls so major that you won't see yourself doing them, you're going to get some stuff has got to slide. And for me sadly it was asking Justin every day like how are you coping with this buddy? I wasn't able to do that and he saw some stuff I wish you'd never seen about the medical world. And that brings up a good point of just how a rare disease not only impacts that person, but all of their family members and you know, especially the parents and you know, I think you had a great line in there that everyone asked about Aaron and no one almost, no one asked how I was doing anymore, which, you know, parents can often get forgotten or not focused on or they're putting all of their energies into their kids.

I mean, how can the health care system better support As you say, rare moms and warrior dad's. Yeah, I love them. Well, as you know, and you were too polite to say, I had a completely had what we used to call in the old days nervous breakdown. I'm pretty open about it. I had a major depressive episode, which after Aaron was somewhat out of the woods after the most intense part of his treatment was done. You know, I like to remember the individuals here rather than the collective, you know, you don't want to sort of tar the entire medical industry with not coming through for my kid because that isn't true. You know, he had tremendously successful treatment. He does well now because of individuals and that's the highlight when, when everyone won't ask, hey, how you doing? There were always people who said like mom, how you holding up mom, you know, they how, you know how Aaron is doing, you know, while he's sleeping, why don't you go like, you know, get a hamburger, do something for yourself. There were always individuals that reminded me, yes, they were always um, a little bit parental.

They were always advising of what I could and shouldn't do to take care of myself and self cares and pretty open about in the book. Not one of my strong suits, but if it weren't for significant individuals, especially other parents who had been through similar or different, I wouldn't have managed as well as I did And in the medical system, just that kind of statement is so rare. But so sought after how you doing just that greeting And you know, the brain surgeons asked quite often when we're in appointments even today, they'll say like, so like before we get down to things like how you doing that is so welcome. Just that general check in so that you're not launching right into medical information and all right, Where are we coming from today? Like how is our mental health? A quick assessment of how people are coping Because you know what nothing cracks you open more quickly than someone saying. How are you if someone is on the verge of not coping well, how are you cracks? You open faster than anyone else. In fact, I used to tell my girlfriends not to ask me, ask me some other questions for president differently.

Yes. How how is today even going or what have you been up to? Anything I always liked And I'll tell you the best phrase always became how are you managing? How are you managing? That is a good one. Then I could go to what I was doing, not how I was feeling. And that gave me a little bit of time to catch my breath. Yeah, that is a good one for people to remember when they're struggling with how to connect with patients and really how they should be checking in. Um Sure. And one thing I kind of wanted to get to is talking about medical histories for you and erin's dad, one of the specialists that you saw an endocrine specialist took medical histories. Did you meet with a genetic counselor at some point over the years? No, we didn't. Now I wondered if it was because we got so quickly to diagnosis and I'll tell you that early on. It was a pediatric endocrinologist erin's favorite doctor. Dr Kirsch, she took blood work and she had tissue samples logged at Toronto's Hospital for sick Children because she thought that sunday at some point, someone might want to run this.

And and that was as far as that went. I've had contact with many doctors about the rare genes being researched about the disease. But you know, over the years, no one had ever suggested that we won Dr marta Corbin. It's who is the discoverer of the so called irish giant jean. She's the first person that took what I would call a genetic history of us. And she actually mapped the family genes on rick's side of the family. Errands, dad's side of the family. And there was in fact an example of another individual and Uncle Erin's great uncle who had a pituitary tumor. But that also then lead to information that we weren't ready for. Which is the one of the climaxes of the book is it occurs to me that if we're not looking just back at who could have the gene, we also have to look forward and who could have the gene. And I realized ERin had a brother who was very tall and that was a tough period of time when I realized that Justin could be sitting on the disease as well.

Here's the glitch with this disease though. Acromegaly, the adult form can occur at any time. The pituitary tumor can occur at any time. This is not a childhood disease. Although there are two I believe genetic markers discovered. Uh the A. I. P. Gene and the X. Lag gene they're called. Neither of those so far has for their derivatives has explained gigantism in our family. So we're considered one of those um families. We have a code name and dr marty corbin. It's has permission to just keep on running our analysis a couple of years ago. Um Erin's father and I and Aaron participated in submitting um for tests of trios of father mother child to see if there is something more that can be found in our trio or other trios. Um We really hoped actually that it would be erin's that the A. I. P. Gene the gene the irish giant gene um which has a hotspot in northern Ireland which we have ancestry.

And I hope that there would be logic to that that that would explain something for us that would then give us something to test for because people in the rare world we want some kind of information to cling to. And the fact is we don't have it in our family. And I say we because it could be in any of us Aaron might have been the first discovery but we are I'm very aware that anyone related to us genetically this disease could crop up for them. So it's another reason we're talking about it however difficult becomes important is that we're all helping each other but we're also helping those we share DNA with. Yeah. Yeah, definitely. I think that's very well said and with how fast genetics moves. Hopefully there is, you know, a genetic change that we can find that then you can test out their family members that want to look at it. Um, and so it's, it's good to hear that at least research is being done and hopefully very soon having an answer for that. So before we wrap up today, I just wanted to ask like how Aaron is today. And are you possibly working on a sequel? Is that something in the works?

Well, look at you. So he is as great as he can be. He is no longer growing. He's uh, he's had two surgeries. They were done back to back. They happened during the book if anyone wants is fascinated by the technology, the medical technology that allows for us to be removed from the center of the cranium, fascinating stuff that took place right here in Toronto and some fabulous coincidences around it. I know everyone loves the medical stories right of how I actually found the doctors we needed. So, he's um, he's doing as well as he can. He's relatively asymptomatic. He's six ft 11. He's a big man. He's got a great life and the only interruption to that, that reminds him about medical treatment is every three weeks he has a nurse visit him for, he is on medication daily now, but he has medication by injection every three weeks and it's an expensive process. Their painful needles. People with gigantism and acromegaly um have medical treatment is the course after surgery and radiation.

And so that is very much uh of course that many, many people I know who live with the disease, these two diseases uh they endure on a regular basis, cost availability and of course recurrence and flare up is always possible. Erin has a remnant of tumor that could be growing. But he's monitored very, very closely by an awesome complicated medical team at the hospitals in Toronto. And that's also reality for people with gigantism and acromegaly. The constant monitoring because these tumors while slow growing can change and can be secreting. So, that's what his treatment looks like right now. Uh sequel, yep. So, I will be investigating everything about giants and going deep into the genetic discovery is the history of giants. Uh together with a couple of people I've come to know in England and Ireland that's on hold now because I couldn't go there for research because of Covid. There is another memoir coming that steps off from the end of Loving Large and really highlights Aaron as you know, erin becomes a pretty powerful character in the book in his own right.

And by the end of the book says to me like mom, like I'm okay, I'm okay. I want you to go get a life and I wanted to, but didn't know it was time to sew the stepping off for the next book is what I did when my son said it was okay to go and live for me now and not be on guard for him all the time. So that one's in development now as well as the giants book. Well, we're certainly looking forward to it and you know, for those that are interested in again, if you're watching this on youtube, here's the cover of the book and I mean it's great if I flip through the whole thing, you'll see all the highlights and everything as I read through. Um, so, and I wanted to mention that we're also going to be doing a book giveaway together so you guys can head over to DNA, today's social media. So just search DNA today on twitter, instagram, youtube and facebook. That way we can all connect and you guys can enter to win your very own copy of Living Large. Um, yes, definitely. So, um, also wanted to give you a moment to plug your podcast as well. Oh yeah, earlier this year.

Um, I guess that would be early in 2020, Sandy Reynolds and I have been co hosting, reframe your life, which is a um, writing focus. Get deep with beautiful books podcast. Unlike any other, a couple of weeks, we drop a new podcast episode, we're on a sort of january hiatus now, but we're still dropping episodes and that's what we do. That's what writers do who are obsessed with books. We talk about books. So jump on over reframe your life. Thanks for that. Yeah, definitely. And you guys can head over to Patti and the hall dot com to get more information and again, be sure to enter the giveaway for your own copy of the book. Any questions you have for mere patty can be sent in to info at DNA podcast dot com and all of the information, including some extra genetic information for about gigantism. The genes we mentioned, we're going to link to everything is at D. N. A podcast dot com. So thank you again for coming on the show. It was great to be able to connect with you after enjoying the book and everything, absolute pleasure. Thanks Cara, Before ending the show, I want to remind you about picture genetics with their exclusive 25% discount for you as a DNA.

Today, listener picture genetics is different from a traditional direct consumer test because it's clinical grade testing with every case reviewed by a health care provider. Results are focused on health with medically actual and useful information for you and your family. I did a couple of their kits, including their picture parenting one, Here's how it worked. I sent off my tube of spit the lab who sequenced a bunch of jeans. This means that they've read through each gene to see if there was a mutation or pathogenic variants, as we genetic counselors call them. Then a geneticist looked at my results and created a beautifully easy to read report informing me about my carrier results. Here's my favorite part. There's also genetic counseling offered so you can speak with a genetic counselor about your results. Order your own kit at picture genetics dot com and use code DNA today for 25% off and free shipping again, that's picture genetics dot com. Get actual genetic insights today to benefit your family of tomorrow. Thanks for listening and join us next time to discover new advances in the world of genetics.

#140 Patti Hall on Gigantism
#140 Patti Hall on Gigantism
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