Case #06: Antoinette

In the back of your mind, at least for me, every day when you wake up, you know, you like, thank goodness, I'm not in pain. How terrifying would it be to fight an unknown enemy, one you didn't recognize and didn't see coming. What if that enemy was coming from within a disease even doctors couldn't identify. Nearly half of all Americans suffer from some chronic illness, and many struggle for an accurate diagnosis. These are their stories. I'm

Lauren Bright, the checko, and this is symptomatic. Antoinette Elcock would be the first person to tell you it takes a bit of time to get her to put her guard down and open up to people. That is, unless you're talking about Soca music or West Indian food. Some of the joke sauces can be extremely saucy, so sometimes it depends on the brand, like the ones that come directly from the Caribbean like less A Jamaic or whatever

the case may be. There used to spice. I need a arrested be for jerk chicken because I've tried to make it four times and the first time I made it way too spicy. I'll get you an email and I'll, you know, think it played by play, like how do you season it? You know you do it the night before lighting up at the opportunity to share her jerk chicken recipe, Antoinette can often take a moment to open

up when you first meet her. As her best friend Anicia Daily explains, she's very much like a consistent person. She's loyal. She definitely has your back, like she'll eventually warm up to you when she meet you a couple other times, but um, don't take your personal Ansia and Antoinette have known each other for over twenty five years,

becoming friends back in elementary school. When they were young, Antoinette faced many moments with her peers that would reshape how she saw the world and how she felt the world saw her moments that made aunt when I feel embarrassed about having sickle cell disease. Sickle cell effects more than one hundred thousand people in the US alone and lowers one's life expectancy from seventy eight to fifty four years. It's a disease that Antoinette has been battling her entire life.

I don't tell people right off because when I was in elementary school about eight nine years old, I had got sick and I missed a lot of school. So when I came back, you know, they was like, okay, why were you out, So me being a kid and thinking these are my friends, I was just like, you know, I have this thing called sickle song. The next day, when we came to school, I noticed that the friends that I used to hang out with it was very distant.

So apparently one of the girls went home and told her mom like, oh you know, mom, I have this. Go to my class. One of my friends, her name is in Swine, and she had sickle song. To my understanding, the mother was very uninformed because she's like, oh, well, we can't be a friend anymore because you have sickle

cell and we don't want to catch it. I can't imagine how traumatic that must have been for you in elementary school to be honest about your what you're dealing with in terms of a health challenge, and having kids treat you as if you're contagious. So from that, I hesitated a lot, a lot to tell people that I have su so and I even have boyfriends that we dated,

and to this day they don't know. Sickle cell caused down Toinette considerable pain and torment, the complications of oregon damage from this disease, and on top of everything else, feeling excluded and embarrassed or all she knew, But it would take a long time for Antoinette to understand and vocalize that there might be more to her experience than simply sickle cell. Taking a step back, what is sickle

cell and how does it manifest itself in people? Sickle cell disease is an inherited red blood disorder which is characterized by chronic anemia, unpredictable episodes of pain and damage to the internal organs that begin in early childhood, and it leads to altered functioning, poor quality of life for patients and early mortality. This is in a nutshell about cickle cell disease. That's Dr John Mattu, Antoinette's doctor and the director of the adult sickle cell program at King's

County Hospital in Brooklyn. He's been seeing Antoinette for almost a decade now and fully understands her illness. Their relationship would become integral to Antoinette learning to manage her symptoms. These times where you could have pain in one place, but it's times where as you linger and as it goes on, it's moving from your backs and your arms and your legs, you know, and then full on crisis. So crisis basically is debilitating pain for a patient with

sickle cell disease. It is quite unpredictable. The patients might be wellnest minute, but the next minute they are an orgonizing pain, which if not treated in a timely fashion, could escalate needing hospitalization. The sickle cell is detected by a blood test that is part of a routine newborn screening. Being faced with the complications of sickle cell from birth,

Antoinette was not expected to live long. In fact, her initial doctor has painted a very grim picture for Antoinette and her parents the doctor turns to my mom and was like, oh, woll enjoy her now while you can, because the life expectancy. If she lives to see five years old, say thank god. So then when I turned five, they're like, okay, well if she lives to seats in, say thank god. Then it was like, oh maybe when she's eighteen. Every year were telling this lady that John

is going to die. At this age. I can't even imagine how difficult that must have been for your mom to navigate. I mean, thankfully your mom had a medical profession background. As a nurse practitioner, Antoinette's mom was very aware of the hardships and complications associated with sickle cell but unaware she carried the sickle cell trait until Antoinette was born. Her mother couldn't have imagined the particular complications

her own daughter would face as a child. Growing up, Antoinette was often in and out of the hospital battling her sickle cell crises, and many times had to bear that burden alone. Mama was a single mom, so even with me being the hospital, you know, there's some people where they can take time off of where she couldn't do that. When you're younger, like I don't have nobody to advocate for me because my mom is not here at the time. These people have to make decisions for me.

So even when you're young, you're telling them you're in pain before they even bring it to you. In pediatrics, like they question are you sure you're in me? Those were the first glimpses Antoinette had of the struggle to receive proper care, a trend that would continue, but the exception to that in Antoinette's cases. Dr Mattu when he started seeing Antoinette in two thousand thirteen, he noticed there

was something different about her case. So Anternet actually was initially thought to have a variant of sickle cell disease called SC, where somebody inherits THEES or the sickle gene from one parent and a C gene, which is another type of human globin from another parent, and that's not a normal type of monk globin. In and on It's case, she was suffering from complications of sickle cell disease which

were not as expected for somebody with SC. So we noticed that uniqueness in her disease and we thought that we should look further. Dr Mattou's approach to care considered the person behind the disease, and that is exactly why Antoinette has always appreciated going to him for care and was able to open up to him and alleviate some of the shame she had been carrying. But something still wasn't quite right. The crisis and visits to the hospital were too recurrent for it to be just the diagnosed

sickle cell. Very frequent hospitalizations. She needed stronger pain medications to control her pain, which was quite out of the ordinary for somebody with the type which we initially thought she was having, which is the SC type which I mentioned earlier. That type is supposed to be slightly less severe, so thinking that she has SC, we were treating her, and then we saw that her presentation and the manifestations of her disease were most severe in terms of the

frequency and the severity of the pain crisis. There are times where you feel like, oh God, you want to die just if we put out your misery because the pain is so bad. On top of the social exclusion and judgment, she has to constantly deal with sickle cell crises, which have caused her to spend a lot of time in the hospital, missing everyday events, and even making it hard for her to hold down a job. At times. Many patients with sickle cell disease have problems affecting the

day to day life. They are unable to keep their job, or they are unable to finish their education. Because sickle cell disease causes pain crisis, they end up in hospital and they lose valuable time off work or school, and this really impacts not only the life but also the life of the families which they support, their children, their parents. If they're supporting them so really sickle cell disease, we

would consider it as a social problem. Therefore, our relationship with patients including Internet is not just in a formal level in a doctor patient relationship level, but also more personal actually talking to them a little bit about how they're facing life's challenges, how they are actually able to cope with the disease. Dr Mattu has always taken antinette symptoms seriously, haven't taken the time and effort to truly

listen to and understand her. That wasn't always the case though, through her sickle cell journey, during which she came across many doctors who were immediately skeptical of or didn't believe her pain. There's another stigma that they have, and I'm sure the selvations will tell you when you go in and I hear this a lot. The doctors come or then they're just come and the first thing, you know, they will look on the chart or look at the meds that I'm not toket and they'll be like, oh,

you have sickle cell. Yes, I have single cell. Oh well, you don't look like you have single cell, Like, you don't look like a sickler. And I've got that a lot. I'm like, what does a sickler look like? I don't understand, Like, we don't walk around it stamped on our forehead. You understand what I'm saying, Like, don't stereotype us when you're telling me, oh, well, you don't look like a sickler.

What are you trying to imply? I don't have single cell, so therefore I don't need the medication that I'm getting. Does that make sense? It's not the disease that you can see. So how does someone look like because she looks put together? Like that's crazy. They have this thing, this term call frequent flyer, meaning you're in the emergency room every other day. So over her the doctor talking and they were like, oh, whoa, she's not a frequent

flyer inquiring about me. We're gonna give her this medication because when you're in pain more than like the it helped us better when we get a shower, I v and to me, when they give you like pills or like for somebody that's in their mind is always there. So he's like, you know, we'll give this one pills because they are frequent fired. Oh, that's so unfair to

be very if you're in pain. You're in pain, and I'm just like, that's also like a really good thing that I'm not there with her when that happens, because I don't. I would, I would play, I would lose my ship, add one more thing into the pile of social judgment and the pain from the actual symptoms having to advocate and push to get the proper treatment you need.

This mistreatment of sickle cell patients in the medical industry is sadly pretty commonplace, so much so that Dr Matto brought it up unprompted that as so many insidious aspects of the disease, and first and foremost is the social aspects which I mentioned. Another thing is about misconceptions about sickle cell disease. Even among health professionals. There are lots of misconceptions about sickle cell disease. Our patients with sickle cell disease have an increase in their health care usage.

They often presenter the emergency room or they have to come to their doctor actually for treatment of their pain. Crisis patients are often in the emergency department and are often admitted as in patience in the hospital, and many times that pain symptoms are not taken seriously and they are not treated adequately by health care professionals. It seemed Antoinette was never enough, not appearing sick enough to be treated for her sickle cell yet not well enough to

avoid judgments based on misconceptions about her conditions. And if no one was there to take her symptoms seriously, then how could she expect anything to change. Her symptoms continued to worsen in their intensity and frequency, one crisis so

severe that it stopped causing a miscarriage. That's another thing too that I guess that made me strong, because it was one day I was coming from work and I felt like a crisis was coming on, like my shoulders and stuff was herring, But in my mind, I'm just trying to get home. Then my stomach started really hurting, like my stomach cursed. My stomach cursition be happening because I'm pregnant and I'm standing at the corner of the street to cross the street, and I'm just standing there

be over. Nobody stopped, nothing, nothing, nothing. When I got home and you know, I pulled down my clothes, that's when everything just blew. I never took the time to really process that. I went to work the next day. I didn't go to them and just see room anything. Well, when I went to my g y and I told him what happened, and he was just like, uh, it's to be expected. What's your sickle cell? And by him saying that, I was just like, I'm not even gonna make a big deal out of this because with the

way he responded, like do the single sell? Just try it again? You know having single soon When you talk to like doctors and stuff like that, they make it seem like the things that we go through, we should be used to it because we have cigle sal and it comes with the tempritory. Antonina, I am so sorry, it's okay, thank you, No, I mean, I'm I'm so sorry that you've been taught that you're just lucky to be alive. We'll be right back with Symptomatic, a Medical

Mystery Podcast. Now back to Symptomatic, a Medical Mystery Podcast. It's hard to process brushing off a miscarriage or something to just deal with as an ex acted consequence of sickle cell. But luckily Dr Mattu wasn't brushing off any of her experiences. With each scare, he seemed to be getting a better idea of what was really at work. Then Antoinette had a very scary crisis, which ended up providing the final clue for Dr Mattu to give a proper diagnosis. One day, I woke up and I couldn't see.

Everything was a blur. I couldn't say anything. It's like a blood blood blood blur. And I'm the type of person, as I told you before. I tried to rough it out, and it was like the third day and I still was not say like, I couldn't go outside because I couldn't say so. One of my associates, she's like, you need to go to the castle. This is not safe. So I went to the doctor. When they looked in my eye, they're like, oh, you have a lot of

blood in your eyes, a lot of blood leaking. When they looked at it, they're like, it's not something more was wrong. It was late in the evening she called me saying that she had suddenly lost vision. I was to rush to the emergency room to get diagnosed, and we discovered that the eye doctors had seen her in fact, and they had diagnosed that she had damage to the inside of her eyes. That right, enough, and that's something which we don't see. So the issues with her eyesight

became a red flag and an aha moment for you. Yes, and in fact, she also had a lot of pain crisis, which was also not fitting in very well with what we thought she initially had. The frequency and severity of Antoinette's crises always seemed out of place to Dr Matto, But now the effects on her eyesight were the final indicator that this wasn't sickle cell like he'd seen it before. So we noticed that uniqueness in her disease and we

thought that we should look further. So we have a specialized test called high performance like with chromatography and short as HPLC, which is used to detect those abnormal types of hemoglobin or variants we call them, which are not normally captured on the usual test. So the type of secus I have is called cecus or arab initially thought to be a prevalent in the Arab countries, which actually

would have made it prevalent only in that area. That's so interesting because you know, this being your area of expertise, you mentioned that this is rare. Was this the first case that you had encountered? Exactly, This is a very first patient I had encountered. It was like, you know, oh my god, when I was in medical school, I've

read about you, like in the books. But because of the the part of the world that we're in, and never have I ever met or even thought I was gonna we're can here have a patient with that kind. So this is a variant which is quite severe. It produces a variety of complications. It affects many different organs in the body, and in particular, damage to the inside of the eyes, which is called retinal Retinal damage is quite common with this problem. Antonine had finally had a

doctor who got to the root of her issue. She now had a name and a potential way forward with treatment for her sickle cell variant. Through all of the procedures, though, they could only restore partial vision to her left eye. If I keep both of my always open, I can see perfectly fine. But with this I can't see nothing. It's just like a big blur. So they're like, you know,

the cells are too far gone due to the circles. Also, this is as good as it gets, so it affects my organs like very rapidly, so rapidly that even a proper diagnosis for her and and a doctor fully digesting her symptoms, Antoinette faced the most life threatening crisis yet, and sadly, the situation was made worse because a separate doctor, not Dr. Matteo, threw her back into that one size sickle cell bucket once again. I was probably about seven eight.

I was in the hospital for seven days. So with me, I told them, before y'all do anything, I don't mind taking any tests. I don't mind doing anything. But what you're gonna do is you're gonna tell me your care plan. So I can say, hold up, this doesn't work for me, or I did this before and this doesn't work. Can you please change it? He had an issue with that, so he made a statement, this is how I treat also go so patients and I'm not changing it. Y'all

all getting the same thing, no matter what. I don't care. That was his exact words. That same night, I went to the bathroom and when I got up to come out of the bathroom, I couldn't breathe. So lucky thing. The nurses station when my room was a nurses station is right across there, and she saw me holding onto the wall like I guess. She saw it before I

could even get it out. And I had coded code and means the patient has gone into life threatening cardiac arrest or is not breathing as an Antoinette's case, and the CODE team rushes to their side to begin resuscitative procedures. And when I quoted, they called the team to come and they did the X rays and to revive me

or whatever. Fine. When he changed me over to hematology the next morning, I end up quoting again and they're like, the oxygen level is very low and if that could be due to the pain or whatever the case may be. And I end up having a cute chest where one of my lungs was retaining water. It collapsed. So after that they rushed me straight to Icy. I mean, it's very it's very hard to see her like that because, like I said, she's very solid and she comes across

as a very strong woman. But because of that personality trait and how people view her, I think that's another reason why she doesn't want people to know or see her in that vulnerable state. The first time I saw her like that, I was like, it was very like. I don't even know how to explain the feeling. I was just like, wow, I was icy you for two weeks. But I said that to say, all of that could have been prevented if he would have just listened for what works for me and not be like, oh, this

is how I treat all of you guys. Well, Antoinette is now being taken care of closely by a doctor who does listen and now has an individualized treatment regimen that is working for her. Her crises are happening less frequently and are less severe than they once were. All of this is a testament to the fighter that she is and has been throughout her entire roller coaster with sickle cells since the day she was born, since the day doctors told her parents she would be lucky to

live to see the age five. The anternet, like I said, she's amazing. She's strong and resilient, and she's been fighting with this her entire life. I know that she's told me that her like when she was younger, doctors told her mom that she wouldn't live in for thirty four now, so's a blessing. So I'm sure, with her strength will be living together for a very long time. She has had a remarkable improvement in her condition. Her pain is

much better than what it used to be before. She has had very few severe pain crisis She has had very few, for at all, hospital admissions in recent years, and we do not see any further organ damage in

her case. It's stressful because as a sickler, in the back of your mind, at least for me, every day when you wake up, you like, thank goodness, I'm not in pain, But you always had that in the back of your mind through a turbulent childhood, dealing with crises, sometimes alone in a hospital, having to advocate for her own proper treatment, to being excluded and feeling embarrassed by her debilitating disease to struggling to understand the severity of

her symptoms. Antoinette went on a heartbreaking journey to get her diagnosis, but she has a very optimistic view on where treatments for sickle cell are headed, and has already seen a lot of progress in the general knowledge about the disease during her lifetime, in particular from Dr Mattu and his staff. I'm happy to see that now people are speaking about it more and we're getting more support, and people are asking questions and how you guys are

doing this podcast and they have commercials. Back then, you never saw that they even have children that have suple selves. And that's what gives me the hope because before no, I didn't have hope for no cure because it wasn't me spoken about. It was just sweep under the rug. But now that it's getting more spotline, that's what gives me the hope, like maybe one day because we came far.

Both the Antoinette and Anetia will probably agree that Antoinette has gained much strength and appreciation for life through all her trials and tribulations. But the one thing they won't agree on is who has the best jerk chicken recipe? All right, be honest, who has the better jerk chicken recipe? Then me? I'm Jamaican. It's Jamaican. It's a Jamaican rest sup so yeah? Um in swan it Monica ocock and

the type is called sickle cell oh abub. To find out more information on sickle cell disease, visit the Sickle Cell Disease Association of America at sickle Cell Disease dot org. Additionally, King's County Hospital does not endorse any pharmaceutical companies or medications. Please consult your doctor for any direct health concerns. On the next episode of Symptomatic, Cam is rapidly losing her motor skills, being attacked by an unknown and unseen disease.

In a matter of months. She goes from starring on her high school soccer team to struggling to make it up the stairs. I think there's something wrong, something is going on, And there was still that hesitance of like, oh, Cam, you're just not trying hard enough, so you're placing all the blame on yourself. Cam bounces between multiple doctors, rushing to mind an answer to what is taking away her

mobility before she loses control of everything? Symptomatic a Medical Mystery Podcast is an original podcast from I Heart Radio. Are shows hosted by me Lauren Bright Pacheco. Executive producers are Matt Romano and myself. Our EP of post production is James Foster. Our producers are crra Kaiser and John Irwin.