Episode 116: Michele, Matthew and Nacole Canning, Mitchell Syndrome
On this episode, Karen speaks with NYU Head Women's Soccer Coach Michele Canning and her brother and sister-in-law Matthew and Nacole, about Matthew's and Nacole's 5-year-old son Cole, who is battling a rare disease called Mitchell's Syndrome. Cole, who once lived a normal life of a toddler, can barely walk or eat on his own; he is only 1 of 16 people diagnosed with this disease. Michele, Matthew, and Nacole are here to spread awareness of the disease and to share Cole's story of hope and survival.
Canning Family Bio
Hello, we’re the Cannings – Matt, Nacole, Aubrey(7), and Cole(6). We are your typical family who enjoy everything from going on family vacations at the Jersey shore and Disney World to movie nights in the living room, as long as we are together. Watching Aubrey and Cole go from babies, to toddlers, and now children with their own distinct personalities has been one of the greatest gifts we could have imagined.
Aubrey and Cole both came into this world happy and healthy, which if you ask any parent is a win in and of itself. From the beginning they were your average brother and sister, best friends one minute and at each other’s throats the next. They loved to do everything together – play outside, ride their bikes, arts and crafts, and of course make believe and dress up.
We started to notice an issue with Cole’s hearing between the age of 3-4. At first we had him fitted for hearing aids, but the hearing loss continued to progress. Finally we decided to move forward with getting Cole Cochlear Implants. We had every hope that this would help Cole get back some of what he had already lost, but life had a different plan for us.
After several months of testing and re-testing, the Cochlear Implants were not helping Cole. His surgeon was confused that there was no improvement as he was a perfect candidate for the implants since he passed all of his hearing tests at birth and was talking before he could walk. He recommended we see a geneticist to check if there was anything that he would not have seen on his tests.
On November 8, 2021 we received the news we will never forget. Cole was diagnosed with Mitchell Syndrome. We had no idea what this meant as neither of us had ever heard of it before. After a few minutes, it was clear the doctors giving us the news had never heard of it either. This is because at the time Cole was only the 9th person to be diagnosed with the disease. The short answer is that Mitchell Syndrome results from a genetic mutation on the ACOX1 gene of a child’s DNA. A child develops mobility and balance problems, and slowly loses gross and fine motor skills. Hearing, eye, and skin problems are also common, and sometimes—as the disease progresses—cognitive decline. The one silver lining in all of this was we had a team of doctors at one of the best hospitals, CHOP – Children’s Hospital of Philadelphia, to help us every step of the way.
Cole has been amazing through everything that has been thrown at him. He has needed to change schools 3 times already. First he was going to school with his sister. When he needed extra help due to his hearing loss, he was moved to an intermediate unit. Now he goes to the Pennsylvania School for the Deaf. Even after all of that, he was still our happy, fun-loving boy who seemed to be thriving in his new environment.
Cole has had a set-back recently and has been in the hospital since late July. The doctors found inflammation in his spine, which was making it difficult for him to walk. After treatment and a lot of rehab we are starting to see improvement. We are hopeful to have him home soon and are prepared to move forward the same way we do everything else – as a family!
Intro Voices 00:04
Where do I go? It only happened once. I think I was singled out. The phone calls began about one month ago. What is hazing? Something happened to me when I was younger. I'm worried about my safety. He said he was sorry. Can someone help me? Where can I get help? Can someone help me? This is You Matter, a podcast for the NYU community developed by the Department of Campus Safety.
Karen Ortman 00:36
Hi, everyone, and welcome back to You Matter, a podcast created to teach, inspire and motivate members of the NYU community who have been victimized in some form or fashion and to identify resources both on and off campus that can help. I am your host Karen Ortman, Associate Vice President of Campus Safety Operations at the Department of Campus Safety, and a retired law enforcement professional. Today, I welcome Michelle Canning, NYU head women's soccer coach, her brother Matthew, and sister in law Nicole, all three are here to talk about five year old Cole canning Matthew and Nicole's son and Michelle's nephew, who is battling a rare disease called Mitchell syndrome. Cole who once lived the normal life of a toddler can barely walk or eat on his own. The Cannings are here to spread awareness of the disease and to share cool story of hope and survival. Michelle, Matthew and Nicole, welcome to you matter.
Michelle Canning 01:40
Karen Ortman 01:42
Michelle, I'm going to start with you. I came across your nephews story on social media. The headline was NYU, women's soccer, raises awareness of Mitchell syndrome. Please share with our listeners, how you became involved. And your team became involved in raising awareness for Mitchell syndrome.
Michelle Canning 02:04
Sure, well, I have been the soccer coach at NYU since 2011. And this fall will be beginning my 11th season. thank you. And I have always in my coaching career have always felt community services really important part of the athletics experience. And so at least one time per semester, the team chooses a community service project. And we usually let the team choose the players you know, we've done so many different things over the last, you know, decade. But with this one, I spoke to the team about everything that was going on with Cole, and I asked them if they would be on board, if we chose raising awareness for Mitchell syndrome to be our cause for the year. And they were all extremely supportive. And their families have been in the alumni and it's just been like, very positive response.
Karen Ortman 02:15
Congratulations, Yeah. And of course, they are an extension of your family. I'm sure all of your team members and all of athletics.
Michelle Canning 03:14
Yes, sure. I want you, Nicole and Matthew or Matt. Shall I call you, Matt?
Matthew Canning 03:20
That is fine.
Karen Ortman 03:20
Okay. How did the two of you meet? And how many children do you have?
Matthew Canning 03:26
So it's probably pretty cliche. How we met we met at work like a lot of people. Do. We both work for the same company, Parks casino in Bensalem. Pennsylvania. I was a chef. She was a bartender, though, of course after work one day, that's kind of how it all started. We've been married since 2013. And we have two children. So Cole is our youngest. He's five and his sister, Aubrey is seven.
Karen Ortman 03:50
How old was Cole when he was diagnosed with Mitchell syndrome?
Matthew Canning 03:53
He was four when he was diagnosed. So a year. Yeah, he got diagnosed on November of last year.
Karen Ortman 03:59
When did you notice that there was something going on with him?
Nicole Canning 04:03
I actually noticed a issue. I mean, we pushed it back. But now looking back, I noticed an issue with his hearing when he was around two. I brought it up to the pediatrician thinking he might have needed tubes in his ears. His language wasn't as developed as his sister. He wasn't talking. She talks like me a mile a minute. He was a little more laid back. A lot of times we couldn't understand what he was saying. They said no fluid in his ears, and they kind of chalked it up to your sister and you are talking over him. That's why he's not. He's not really learning. And we kind of we took back we listened. We started developing more language. And then again, I noticed an issue probably like late February, right before the world shut down. I called to get him evaluated again with his speech, because we were having issues again, understanding what he was saying a lot of the times and then he was getting frustrated. We won't understand it. You know, the world shut down so he wasn't able to get evaluated. so September, October, actually of 2020. And that is when they diagnosed him with his first symptom which was hearing loss. They said that he was moderate to severe in both ears medically. Other than that he was completely fine. They ran genetic testing at first, all the standard hearing loss genetics. And they chop it up to just he just fell in that category of hearing. He just lost this hearing. No reason just lost it.
Karen Ortman 05:28
Were there other symptoms that he was exhibiting, in addition to the hearing loss that now looking back, you recognize were part of the Mitchell syndrome.
Nicole Canning 05:39
They said he had a bunch of balance issues. He had a hard time like balancing, they chalked it up to losing his hearing so fast, that it could have caused the balance issues. And then he was falling asleep in class here and there. They also set the audiologist at CHOP, since obviously, we weren't diagnosed yet. I attributed that to auditory overload, like his little mind was trying to wrap itself around everything that was happening in school that it was physically tiring him to fall asleep. But now looking back, those were two things that he had that we weren't really sure of same with rashes are caused by Michel syndrome, and he has eczema really bad. So now looking back, we're not sure if it was always eczema we were looking at or if that could have been one of the rashes and we just weren't sure what we were looking at.
Karen Ortman 06:29
Now prior to diagnosis. Were you? Were you scared about what was happening with him? Or was it something you thought he would grow out of? I mean, aside from the hearing loss, because I would assume that that was nothing that doctor said would improve?
Matthew Canning 06:48
Yeah, it was really nerve racking.
Nicole Canning 06:51
And they thought the Cochlears were gonna work, right? Because they didn't know what it was at first. So we just thought, you know, learn a little ASL, we'll be fine. Cochlearlors and hope and then they didn't work. So then
Karen Ortman 07:03
Cochlears explain to listeners who might not know what Cochlears are.
Nicole Canning 07:08
They are similar to hearing aids except for, they there is a surgery. And they put basically a magnetic electronic device in your head and a little piece that goes and looks similar to a hearing aid that sticks in your head that verbalized with currents that causes you to be able to hear sounds and voices and Cole was a perfect candidate for them, had not been after we found that its the Mitchells that set was what causes hearing loss, he...
Matthew Canning 07:33
was a good candidate, because he was born with hearing. So typically people who are born with hearing and then lose it for one reason or another, make good candidates because you already know you had the audiological the actual nerve in your head that relays the information to your brain. So we thought you know, the surgeon said he was a perfect candidate for it. So we went ahead with it. And you'll hear his name again. But Dr. Gerber Miller, who was his surgeon, it was because of him that we found out, you know that Cole has Mitchell's because after a couple of months after the surgery, and he still wasn't able to hear anything. It didn't make any sense to him while so we read it. So prior to surgery, when he had the genetic test done, it was just on him. But now he ran it on all three of us. And that's how we came to the conclusion they came to the conclusion that he has this rare gene, that's a coxswain gene, which it actually develops well, and while he's an embryo, so it's before even before he was born, that this gene mutated.
Karen Ortman 08:35
Your son got the cochlear implants. You thought that that would improve his hearing. But he had eczema, which you thought could have just been eczema. there was the sleeping problem. Was there something about all three of those that made you pursue it even further to get to genetic testing?
Matthew Canning 08:57
No, that was actually the surgeon
Nicole Canning 09:01
he actually pushed it because he was actually racking his brain and he I will give him his props he probably messaged and called me at least 20 to 30 times while we were still trying to figure it out. We don't understand why they're not working. He said I just want to try one more thing, this one genetic test and it came back positive.
Karen Ortman 09:22
did Cole's pediatrician believe the issue
Nicole Canning 09:27
we only see his pediatrician for checkups. So it's when we broke the news about the audiologist and he checked for fluids. He said No, when we came back that day and told him that they said severe hearing loss he went and did the test and he said he was fine like six months ago when you talk to he answered you back like I never saw any signs of hearing loss and he has also been very adamant calling and emailing to make sure that Cole is okay in any progress that we're doing with him
Karen Ortman 09:57
and now Michelle were You involved in all of these conversations related to the concern, particularly that the surgeon had for Cole and what he was going through?
Michelle Canning 10:12
Yeah, I think Matt and Nicole did a really great job of keeping everyone informed in the family about that this is what is happening. And the next step is to try hearing aids and then okay, this step after the hearing aids is going to be to have the Cochlear surgery. And I remember they told us right away, okay, when they tried to turn the cochlear implants on, they didn't work. But then there's, I think I remember three trials or something, you get three?
Nicole Canning 10:43
Michelle Canning 10:43
yeah, it's three different trials. And they were keeping everyone knew very well informed about what was happening. And what, which I think, is, is great too, because then we were able to keep trying to support all the extended family on both sides. And all of their friend networks on both sides, were able to keep trying to offer support and understanding and empathy while they're going through all of this.
Karen Ortman 11:17
So you get to the point where the surgeon says, I want to do this one more thing I want to do genetic testing, you all agree? What did that entail? Oh, they just
Nicole Canning 11:28
sent us a kit and we had a swab. It's like doing a DNA test. It was offset and actually very easy.
Matthew Canning 11:34
Yeah, compared to some of the other stuff we found extremely simple.
Karen Ortman 11:37
So the DNA test is done. And at some point, the results come in, tell me how they are shared with you.
Nicole Canning 11:46
So I can tell you that we actually had an audiologist appointment at CHOP at 9am. The next day, the Friday before the surgeon was like we did an MRI, the magnets were in the right spot. So on Monday, when they called me and said that they wanted to have a zoom with the audiologist, the geneticist, the surgeon, I said I don't understand I have an appointment tomorrow. Just tell me when on there tomorrow. And they said, well, we'd like to do it today. So then I hung up, I just as a mom, I knew something's wrong.
Karen Ortman 12:20
Yeah. What did you think at that point?
Nicole Canning 12:25
I will tell you that what I had to call my girlfriend right away and ask her, like, Am I going crazy like, and she said, I feel like it's not as bad as you think it's going to be, but it's definitely going to be something serious. As they were telling us that night on the Zoom, and they were running late. And I was still like, just tell me tomorrow. And they're like, no, we want to do it tonight. So when someone insists after hours that they want to talk to you about your son, you know, it's something serious. And I just remember texting my friends, it's worse than I thought. It's definitely worse than my worst thought.
Karen Ortman 12:58
Do you recall what they told you Mitchell syndrome, and tailed.
Matthew Canning 13:03
At that point, it was very black and white, very cut and dry. Because again, like we said, there isn't a lot of information out there. So what they were going off of is and we could get we can get into it more, There's this one website that the Matthew Michelle Herndon, the parents of the first Mitchells, who it was named after he was the first patient ever diagnosed with it. That's where they were getting the majority of their information from so it was a very simple explanation of, okay, we ran the genetic test. Here's Okay, that's a mutation of this a coxswain gene, very cut and dry Doctor talk.
Karen Ortman 13:43
But what did that mean for your son? As you understood it?
Matthew Canning 13:47
It meant that he has an extremely rare disease and when you hear you hear that, and you see on TV, you see okay, people talking about extremely rare one in 1000 in 1,000,000 even throw that out one at a million. He's one of 16 in the world right now.
Nicole Canning 14:05
When he got diagnosed, he was number nine.
Matthew Canning 14:07
He was on and he was yeah, he was a ninth person in the world. As far as we know, there's only this one test genetics test, to run to actually get diagnosed with it. So no, not a lot of people think to do that.
Nicole Canning 14:20
I can just tell you what he told us. The only thing that I kept focused on is they kept saying Mitchell was. he was. he was. and I go why do you keep saying he was. is he not alive. And that's what they said he unfortunately passed away and then I believe I went downstairs and threw up
Matthew Canning 14:37
at that point I was basically by myself with the doctors on the Zoom and yeah, she was kind of going at that point because I was just trying to focus on -you know how you talk about mom or dad mode. My dad mode was give me all the information you can give me I'm gonna take it in. So this way, you know she can deal with whatever she has to deal with now Let me get all the information and then we'll we'll talk about it. And then because at the end of the day, that's what I need to think of is, the more we talked about it, the more we get the information out there, that's ultimately going to be what helps the most,
Karen Ortman 15:12
It must have been terrifying
Matthew Canning 15:13
I must admit. I was terrified, but I don't know, it's something inside me, which is just pushing that fear down. And trying to just push forward as much as possible. I don't know if that's our dad, you know, Michelle's dad, because that's kind of how he was like, I mean, he was he was, he was a cop. Yeah, he was like one of the strongest people I've ever known. And that's kind of what I really thought through was be like that down, put your head down and get to work.
Karen Ortman 15:47
Michelle, do you remember the first time you heard about Cole's diagnosis?
Michelle Canning 15:52
i do because it's the same in the same way that Nicole felt like she could tell from the doctor's reaction that it was gonna be a whole team. Matt, I think, sent a text to my mom and I. And I remember saying to my wife, I don't have a good feeling about this, because he is texting to say, Can you both get on video chat with us? And I said to my wife, I don't know there's something about this, I like immediately have not a not great feeling about this. And she says Don't overreact, don't jump to conclusions. Maybe it's just going to be like, okay, you know, these, like with the hearing, we're all committed to learning ASL. And we'll deal with these communication challenges. Our family will manage all of these. And I said no, like, it's my brother. And I just know, I just know that something different is going to be sad. And I was sitting in my office in University Hall, I was sitting in my office in University Hall. Because we did it. I was still at work. And I was on on the chat with them sitting at my desk, and I remember it very clearly. And I had no idea what it meant. I didn't know I never heard of Michell syndrome. I didn't remember like, I don't remember what they said the symptoms or anything. But I just remember them saying like, yes, it's not just hearing loss, he has Mitchell syndrome. And that means a lot of other things, too.
Karen Ortman 17:31
So what is your understanding of what Mitchell syndrome is and what it means for your son and what is his status? As of right now?
Matthew Canning 17:46
So the short answer is, it's a mutation of the a coxswain gene. It happens. As I said, while the child is an embryo. And what this gene does, it's different for every patient. And they're still there. So, so much they're learning every day because it presents differently, and every patient, the symptoms could start at any different age like again with Cole, you know, it started with him losing his hearing. So it's a gene that really, it just goes after the nerves and the body you don't know when you don't know where again, Cole it started with the the nerves and in his head for which is why the cochlear implants didn't work. And right now we're currently in the hospital with him because he had a recent setback where they had some inflammation with the nerves and his spine, which is being treated for now to get him. You know, he started little by little, he's in rehab, we have about another week or so here. But he's getting back he's starting to walk a little bit more on his own with a walker, there so much that you're still learning from the hospital where Mitchell was at? They're still, even though they don't have a patient currently at their hospital, they're still working.
Karen Ortman 19:04
So in fairness to all of you, you really don't know what to expect,
Matthew Canning 19:12
No, this is not to make light of any other illness or disease or anything that's out there. But yeah, this isn't like, Okay, you have, you know, this disease, which we know, okay, here's an operation for it, because we have a name for it. We've done it a million times. Here's your percent chance of this working - with all there is There's not enough of that. Because again, we're only talking about 16 people in the world right now. While 12 in the world right now with us. There are 16 Total diagnosed, four of them have already passed away. They only have 12 patients all around the world. They're all different in different phases of it, so they're all receiving different- like Cole's in here now receiving treatment for the issues with his spine? But you know, other kids are receiving different treatments for different issues?
Karen Ortman 20:05
Yeah. Is the diagnosis assigned a stage similar to like a cancer?
Matthew Canning 20:13
What stage? Well, I know there aren't, there is no stage. Because even when you get into the symptoms, even the symptoms can present differently at different times, like when you get into something like cognitive decline, things like that, that could present anywhere. I mean, it's happened already to a child, who recently passed away. But there were also, you know, older adults, you know, Mitchell was 19, another woman was 24, you know, cognitive decline didn't even have until later stages in life for them. So even something, even the symptoms themselves can present differently at different times. So yeah, as far as stages go. There's really no rhyme or reason to as far as we know, right now.
Karen Ortman 21:02
What about Cole's symptoms are a defining symptom of Michell syndrome and not something else,
Nicole Canning 21:14
the hearing loss was one of the symptoms, and the fact that his auditory nerves at this point unless, there's this trial medication coming out, unless once he's on that, that works, it's pretty much his hearing is just pretty much gone. his MRI that he got when he was in the hospital, they were checking for the inflammation of a smart spine and to see if it got into his brain. And the inflammation that was found in his spine was similar in three other cases of Mitchell's they told me, so it was something that they were looking for, specifically, that other Mitchell's patients have had. But the downside to that is, like Matt said, there's all different symptoms and it attacks people in all different ways. And then unfortunately, things are done in other countries that are not done here and vice versa. So how someone is, you know, treated in like, another country is different than having treatment in the states and vice versa.
Karen Ortman 22:11
When we talk about the 16 people who had been diagnosed, some of whom have passed, are they all around the world.
Nicole Canning 22:19
There they are. So I believe and don't quote me on the amount of people but there are 16 and I want to say maybe nineish are in the United States and the other ones are in other countries. I know There was one in England that just passed away. Little Henry he was the closest to Cole's age. He he just turned seven, when he passed. There is a another lady, young lady in Brazil that has it. I know there is one in Russia that currently has it.
Karen Ortman 22:48
Did any doctor suggest that you get a second opinion.
Matthew Canning 22:53
So the doctors that we have here we have a really great cause an amazing team here at Chop and the one thing they do is communicate to other hospitals. So it was actually the communication between calls doctors here at CHOP, and Washington University, which is where Mitchell was being treated. And they actually confirmed for Cole to have a gene that neither myself or Nicole have, and it says a coxswain gene. That's, pretty cut and dry that it is what it is.
Karen Ortman 23:28
How is your family coping with this? Diagnosis? It's incredibly painful.
Nicole Canning 23:37
No, it stinks. we're coping as best as we can. we can't be sad all the time. Because that's not going to help the situation like It's our destiny has been written. So if we sit around and be sad and mope and cry all the time, which trust me at some point now I will cry. But it's not going to change anything. .
Matthew Canning 24:02
And we're both very lucky to have the families and friends that we do I mean even something like this like having my sister put something like this together. And that's I think that's one of the things that makes this so much easier if I use that i still wish it were easier, but it helps me to deal with it knowing the people that I have behind me my family and my friends and Michelle today the same thing our friends our family, you know they've been our friends and family for a long period of time now and they would drop everything in a blink of an eye to help
Nicole Canning 24:40
my family and friends are the same. My one little girl friend at work her daughter was putting lemonade stands out to Raise money.
Michelle Canning 24:49
Yeah, I would say the support network is a huge part of the coping. And I think it's coming across my brother I mentioned it already. and Nicole said the same thing like, Okay, this is what it is. And we're just gotta keep pushing forward and do the best we can with it, but not in a way where we're pretending. Like, it isn't difficult or sad. sometimes we all cry and sometimes we see each other crying. And sometimes youre already is crying and, it's okay to be sad, and we don't want to pretend like it isn't. And we don't want to not make space for that. But then also well, what can we do is raise awareness for other families so that maybe other children are gonna be tested. And we can keep pushing to raise awareness to so that we can have more research funded. So there are more treatments for coal and other children like coal. And I think we're all on the same page about that. And the call when it was originally just confronting the hearing loss in new Cole was all about the Walk For Hearing and what else is out there? And how can we be engaged in these things that are going to make a difference?
Karen Ortman 26:15
You're all very lucky to have such strong support. You know, there are people that don't have that.
Matthew Canning 26:25
I'm thankful for that every day,
Karen Ortman 26:27
you're really blessed. Let's talk about Aubrey, how is she coping?
Nicole Canning 26:34
She's doing as well as she can. She doesn't know 100%?
Matthew Canning 26:38
She knows that her brother's sick.
Nicole Canning 26:39
we descibed it as a virus that attacks his hearing and his walking and she doesn't know how serious he can get. She's only seven.
Matthew Canning 26:47
Yeah, that's what we keep going back to is like, we were still trying to wrap our heads around this thing, because again, with it being something that they're still learning about on a daily, weekly, monthly basis. And we're still trying to understand it. How do you explain it to a seven year old?
Nicole Canning 27:05
yeah I can explain it to my friends so
Matthew Canning 27:07
Let alone Cole who has it. He's five and he's deaf. So yeah, he's learned ASL. But he only knows so much ASL. So how do you explain certain things that are going on to him when he might not even know what he doesn't even know what those words mean? So at the end of the day, like Michelle said, we don't try to hide from what's going on, or pretend these things aren't happening. But at the same time, we have a five year old and a seven year old that we still want to treat like a five year old and a seven year old and give them as much of a normal childhood as we possibly can.
Karen Ortman 27:45
Now, Cole was diagnosed last November 2021. Tell me about his life since that time, what did what has it been like?
Nicole Canning 28:00
So now that we're aware of what's happening, we push the American Sign Language through. We, oh, I should say I force my husband to take us to Disney. And it's not really a celebration, but kind of a like, we just went through two years of unanswered, and now we have an answer. So let's go as a family and enjoy what we have the time that we have and how to celebrate before there's a chance he might not be able to walk around.
Karen Ortman 28:35
What additional symptoms since November Is he exhibiting related to Mitchell syndrome.
Matthew Canning 28:44
So right now, as I said, we're at CHOP Children's Hospital of Philadelphia, because he had his normal pediatric checkup about a month or so ago. But right before that, leading up to it, he started showing some signs he was eating a little less during the day. He seemed to be more tired throughout the day, even though he was getting his normal amount of sleep. He's a he's a heavy sleeper, he would go to bed at his normal time at 8:30 at night. And now he would have to get up pretty early in the morning for school because the school is in the School for the Deaf. You know, it's a pretty early pickup, but he would go to bed pretty early, but even still, you know, he got to a point where he almost seemed lethargic during the day again, then you add that to the not really eating losing weight. And then the biggest red flag was when he was really having some trouble walking around. Because again, like we said, as a five year old kid, this kid was climbing everything running around everywhere, getting into everything. So when you see him go from that you add all those things up. Again, being as lucky as we are. We have another friend of ours who was a nurse, and she immediately called me when we had some people over the house and they saw Cole because sometimes it does take -we see them every day so we might miss something whereas - All sudden, somebody who hasn't seen them in a couple of months comes to seeing them. And they say, Hey, theyre not quite the same as they were, a couple of months ago, three months ago, whatever. So that friend called another friend, she immediately calls me and says, Matt, take them to the emergency room. So I immediately bring them to the emergency room. And within a matter of hours, they come back with, you know, a couple of issues that he has. So not only did they find the inflammation in his spine, through, you know, they did blood work first. They did an MRI, they also did a spinal tap, to confirm everything because that's, you know, how, how they are here, they confirm everything with every test possible. But They also discovered, he's sleeps kind of the opposite of - the best way to describe it is opposite of a person who snores who wears a CPAP machine that they have trouble breathing in. He's the opposite. He breathes in fine, but he's not breathing out because you breathe out oxygen, and O2. So he had all this extra O2 in his body, which is keeping them tired during the day, and lethargic and things, which would also affect his appetite and things like that. So little by little, since he's been sleeping on a BiPAP machine that he wears when he sleeps, that's also helping him he's - he's much more alert and awake and engaged. And talking again, and signing. You know, even with his hands with doing the signing, he was not really into it for a while there. And now he's much more engaged and talking and mommy and where's Aubrey? And where's this? And where's that and asking for things? And yeah, so little by little, we're starting to see, the treatment is called IVIG is a treatment he received for the inflammation in the spine and other Mitchell's patients have received. And we actually just found out today that because it's almost like getting a cortisone shot for certain things where you would get it every so often. It's the same with his IVIG. So he got it about a month ago. And now they're looking to do one more to see the same thing to see if that even helps them improve even more, because this could be a treatment he receives on a regular basis to really reduce and almost eliminate the inflammation in his spine to get him back to his normal mobility as much as possible.
Karen Ortman 32:17
So what's a typical day like for Cole in the hospital? And I guess it remains to be seen when he comes home what that would look like but what does it look like now?
Nicole Canning 32:28
So right now Cole is and he will be coming home as well on a feeding tube because he's not eating as many things as they would like him to. So usually when he gets up, I know I things I never thought I'd learn - feeding tube. We get up I put the feeding tube on he gets his medicine, we try to get him to eat most of the time He doesn't. get them all fed on the feeding tube, we get him dressed. And then he usually have about an hour of physical therapy followed by an hour of occupational therapy. They offer now art therapy for an hour. He comes back in he eats lunch, well we try to get him to eat lunch, she gets a feeding, feeding tube on lunch, gets a little break and then they come back and give them another half hour of PT and OT and then we come back and it's usually playtime, dinner. We give them a shower bath. And then we take them they have a little play room where they do arts and crafts every night. Every night they have a scene where you need a stained glass fish. And when I say we I met me just directed really when he wanted me to put everything and how what I was doing wrong. And then we come back to the room and we usually watch TV and he lets me know when he's tired. That's it for the first six months of his life. But he was he lets me know I want the mask. It's time for bed, turn the lights off, get off your phone,
Matthew Canning 33:53
which is also a good sign to know that Cole is coming back because he's a very bossy five year old child. So now that he's bossing us around the way you see. That's a good sign.
Karen Ortman 34:04
Michelle, have you had the opportunity to see him while he is in the hospital?
Michelle Canning 34:08
Yes, I have I already trying to be as supportive as I can be. And I knew that my season was on the horizon were false for here at NYU. So my season was starting on August 17. So prior to that Cole went into the hospital on July 24. And I was there that weekend, we went to visit and as we were saying some of our friends were over and we were just you know having a get together and having fun. And then after that I went every weekend. So I went every weekend to sleep over at the hospital to be able to give Matt and Nicole a break. So I did that for four weekends. And then it's really challenging for me now to have free time but we had the day off on this past Sunday. So just two days ago we had the day off and I made it a point to Go, to Cole who was at the hospital and I asked like, is it okay if I come down if I come by? So we went and we visited for the day. And we're also trying to balance. I think Matt and Nicole are doing a great job of this, making sure that people include Aubrey. And so I went to the hospital in the morning and spent time with Cole. And then on the way home, I went to the house to see Matt and my mom and spend time with Aubrey,
Karen Ortman 35:26
you're a very special sister.
Michelle Canning 35:28
Thank you. they're lucky to have you.
Matthew Canning 35:32
Nicole Canning 35:33
My best friend actually works at CHOP. Liza has brought me deodorant, toothbrushes, snacks, coffee, sat down with me like she asked the nurse questions, because, you know she knows more from working here like trying to get information for me. So she's also was helping us on that on the Chop end of it.
Karen Ortman 35:54
So I'm going to ask you a difficult question. What is the prognosis for someone diagnosed with Mitchel syndrome?
Matthew Canning 36:05
So short answer is right now the prognosis isn't great. If we're talking long term, again, with the little information we have, I mean, from what we know there, like I said, there's only 16 People that have ever been diagnosed 12 are alive right now. But again, to our knowledge. No one's really made it past the age of 30. Mitchell, the first person with it, he passed at the age of 19. How many people die every year that go undiagnosed. So you don't even really know - again, with what we know versus what we don't know. That's what's ultimately going to make the biggest difference is, the more we know, the more we can find out about this to find new or better treatments to say again, there's one treatment that is still in, believe it or not the trial phase, this has been in the trial phase for almost a decade. Now. It's another medicine, they've seen positive results in through flies, which is how they they test it to almost reverse the effects, not just put a pause button on the effects of the gene attacking the nerves, but ultimately reverse the effects of the gene, the damage the gene is doing. So the nerves, so I'm trying to focus on that. But at the end of the day, again, Michelle said this. We also can hide from the fact that we do know that yeah, the long term prognosis isn't great. So we're trying to do as much as we can now to enjoy as much as we can right now. Yeah, but also work as much as we can.
Nicole Canning 37:50
As we all know the end of the story, we just want to make sure that we read every chapter before we go to the end.
Karen Ortman 37:56
Yeah. Well, I thank all of you for joining me today and sharing this very important story of of Cole's diagnosis and shining a light on Mitchell syndrome. It's very, very important. Before we close out our conversation, is there anything that any of you would like to share that we have not discussed? Michelle, I'll start with you
Michelle Canning 38:19
All right, I think I just want to emphasize and I don't know, if Matt and Nicole, you're already planning on doing this with a call to action. So the goal is to raise awareness to help not just C olewhat as many people with Mitchell syndrome as possible. And so people can find information, and they can find ways to donate. And that is on the Mitchell and Friends Foundation. So if they just Google Mitchell and Friends Foundation, they'll be able to find that on there, there are videos and there's explanation of Mitchell syndrome. And there is a gift page and the gift page you could give to families, if you want to support families, for things that never even came up in this conversation of, well Cole is in a wheelchair now and he has a walker and they have to remodel their house Matt and Nicole have to remodel their house and they might need a different car. And so these things that all the families are dealing with, so you can give to the families. But you also can give to the research fund at Washington University in St. Louis. And it is so so important to push the treatments and the trials and the research because that is what the people with Mitchell syndrome need they need people working on -how can we alleviate their suffering but also how might we be able to solve this and if you want to follow Cole, specifically, if you search We Sign with Cole, Cole has an Instagram handle #wesignedwithCole. Cole has a Facebook page We Sign with Cole. So you can see lots about Cole's journey and the family's journey and videos and photos and learn more. And you can follow along with Cole's progress.
Karen Ortman 40:11
Sounds great. Thank you, Nicole, Matt?
Nicole Canning 40:16
Well, Michelle got almost all my things I had. The only other thing that we definitely wanted to point out we already gave Dr. Grimm Miller is props for pushing for the genetic testing, because we don't know how many tests they would have been running. While we were here, we probably definitely would have been here way longer if we did not have a diagnosis. But we also wanted to thank Matt Michelle Herndon and their son's first case
Matthew Canning 40:45
I think we come back to how he's, you know, how we're moving forward. And you look at the parents, he was the first kid. And still to this day, they haven't stopped. He passed away in 2019. And I mean, Matt created the and Michelle as I told you already Mitchellandfriends.org created this whole page for families to go on to share their stories, not only share their stories, but to give you contact with a way to reach out to other people going through the same thing as you so Matt and Michelle, just two amazing people.
Nicole Canning 41:21
I don't know if I could do it. If my son passed.
Matthew Canning 41:23
And she's really the one that she's going all over, she goes to medical conferences, she's the one pushing doctors to talk about this she's the one that create this fund to get the research program start really full time, like they're they are doing research, but without the funding, it's only being done on, you know, here and there on a part time basis. But to really have a team in place to do this full time research. At the end, they were here talking about Cole, but bigger picture, we're talking about Mitchell syndrome, so and that's really what we want to put the focus on. And right now that happens to be Washington University, their medical program, doing the research. So whatever we do to bring attention to them and to help them that's that's really what we want to do.
Karen Ortman 42:10
So thank you once again, to my guests, Michelle, Matt, and Nicole, and to all of our listeners for joining us for today's episode of You Matter if any information presented was triggering or disturbing, please feel free to contact the Wellness Exchange at 212-443-9999 or NYU's Department of Campus Safety and their Victim Services Unit at 212-998-2222. Please share, like, and subscribe to You Matter on Apple Podcasts, Google Podcasts, Spotify, Stitcher, or Tune in.
Correction Note at timecode 28:45: Cole doesn’t expel enough CO2, not O2.