Chronic granulomatous disease (CGD)

Voiceover/Sound

I get a variety of questions… Anything from how did I get this? Is it contagious? When will it go away? What’s the cure? Can they still go to school? Is this gonna be forever?

They definitely feel very isolated because it’s a rare disease– 'It’s' overwhelming to process it.

So, when I speak to a child about CGD, sometimes it’s confusing cause they don’t really know what’s going on inside them and they don’t, they can’t really understand that their body can’t fight off germs like a normal person could.

I just tend to tell them that, you know, when they were made, there was just a little different gene given to them. There was something different in them that came from their parents, and it causes them to be able to get sick faster.

I tell them it’s like a Pac Man. As soon as I mention that, about the Pac Man, their eyes light up and they get excited cause they can visualize that. It’s like a Pac Man that eats up the invader. But inside the Pac Man, they’re missing something that will destroy that infection. And they can’t kill that invader.

CGD is something you’re born with and it’s not contagious. CGD is a condition that you’re gonna have for the rest of your life, but it doesn’t mean it should be something that slows you down.

I usually let them know that it doesn’t mean that they have to be isolated from the world. It’s just that they need to be careful, you know, and that they’re okay.

And I just sort of give them some examples of things. If they get a little tiny cut, they need to be very careful and get it washed out right away as opposed to just continuing to run and play with their friends. And I really try to just get the point across that things that might seem small to their friends can really turn into big things for them.

It sometimes can get very exciting when they learn that they don’t have to do any yardwork. They don’t need to cut the grass or do any of the mulching or rake the leaves in the fall. They will immediately look at their parents and say, did you hear that? Did you hear that? I don’t have to mow the lawn any longer!

When children are ready to go to school, there’s a lot of educational material available. Not only for the parent to prepare for school, but also the school to prepare for the child.

One of the resources I really like to provide for my families is CGDConnections, and there’s also a Facebook page where people can go and connect with each other and talk about the challenges that they’re having or their successes with their journey through CGD.

What made me want to be more responsible with my medications, specifically the ACTIMMUNE, was definitely the fact that I was going to be going to college soon.

My name is Matthew. I have X-linked CGD.

I’m 19, I’m a first year at college.

When I was very little, I got like very sick. They took me to the doctor, they did some tests on me and that’s when we found out that I had CGD.

I was put into an induced coma for about a month, and I actually got kind of a bald spot on the back of my head from bed sores. It’s pretty crazy. I still have that to this day.

If I wanted to live by, on my own, in the dorms, I had to know how to give myself the ACTIMMUNE, because it’s such an important portion of protecting my immune system.

I think a great first step in taking control of your own care is just starting with the small stuff. Taking baby steps, paying attention to the stock of medications. learning to order them when you have to, and also just like paying attention of when you need to refill a prescription.

I stay on top of my medication just by keeping a tight schedule, being consistent with everything, having reminders like on my calendar.

Today my parents’ involvement is usually just giving little reminders or asking if I need any refills.

One thing my CNE does to help me out with my transition into college is he talks to me about ACTIMMUNE, and he lets me know about events where I get to meet other people with CGD.

What I would say to teenagers who want to take more control over their CGD care: Talk to their parents about wanting to take more responsibility over their situation. Tap into the resources available to you through Horizon By Your Side.

Dr. Artemio Jongco: Building a trusting and open relationship with your medical providers isn't always easy, but one good rule of thumb is to make sure that you're honest about what your expectations are, what your goals of care are, and what you expect from your providers.

Dr. Nicholas Hartog: The one thing I recommend is making sure you have a point person, you have somebody who is in control of the disease, in control of the team, talking with everyone, making sure all the specialists talk, everyone's on the same page, to get the best care out of the team that's helping to take care of your child.

Dr. Hana Neibur: CGD is a hard disease to understand, especially because it can do so many different things. So when you go to see your doctor, it's important to write down your questions before you go, and write down your answers. Get the information you need, and don't be afraid to ask those questions. You need to feel confident in the care your child is getting. And if you don't feel confident, you need to ask more questions.

[Dr. Artemio Jongco:] Patients' family members should feel empowered to demand that their doctors have open lines of communication with everyone on the team involved in delivering care. And then when things don't quite meet your expectations, or you feel that one part of the team isn't quite living up to their job, then make sure you let them know and give them a chance to fix it.

When it comes to having CGD at work and explaining to your coworkers about CGD, I’ve restricted that conversation to really my supervisors. Because again, for me, when I’m healthy, it’s really not a conversation I need to have with a lot of people.

With my supervisors, however, they need to know that at any given time, I might be going into the hospital or I might need to be at the doctor’s office more than the normal person might be. So I’m always very upfront with my supervisors and tell them ahead of time when I first get hired that this is what this is and this is how it could present itself. And my supervisors have been incredibly understanding and accommodating. They understand that I could be out for long periods of time, and that in doing so would not jeopardize my status as a worker.

Let’s say I’m, I’m starting a new job or career, I will inform HR of what my current situation is with CGD and what might happen or what could happen and what things I may need to avoid, like a dusty area or, what I may need to do or what exceptions I might need because of CGD. And I’ve never had a problem with HR coming back at me for a negative reason. So they’re very understanding. I guess for me, they’ve been easy to work with.

When it comes to explaining CGD to coworkers, it depends on the coworker. Usually I try to keep my personal life and professional life separate. When I do explain it, it’s just kind of a breakdown of what’s going on and what the treatment is and why I might need to go to a doctor more or a specialized doctor, and then they’re usually pretty understanding of it.

So as far as career choices, I would choose a path that you like to do. But be aware of CGD and its treatment and what’s involved with that and what potential risks there might be, you know? I would say that, don’t get into like, you know, baling hay as a profession or farming. That might not be the best. But just being aware of what’s out there. Choose a clean profession. For me, CGD, when it came to my career and success, it motivated me. Because I wanted to prove to others that, hey, even though I’ve got this, it’s not holding me back in any ways.

My biggest getaway for me when, you know, when I just needed a break or whatever, I would go to my mom cave and paint. I like to paint. I did a lot of painting, and I actually wrote a book about painting. That’s my thing. I like art. I think it is really good to have something you can do, where you can see an accomplishment. If it’s knitting or you know, reading or taking pictures or whatever it is.

One of the things that I would do to just take time away would be to swim. We always had a pool available. A chlorinated pool for Dustin to swim. And even if Dustin was in the pool, exercising in general will take stress off of you. You can walk with your child. Push him in a stroller. It’s not getting away from the illness or the child. It’s letting your body release that tension that you’re building up, regardless if it’s with your child or without.

I’m a carrier, and I sometimes forget that I need to take time off and just, even if it’s just going down for a cup of coffee by myself or just enjoying some time by myself, cause everything’s about the kids. 24/7. So my advice to myself and to all the other moms who are carriers is take some time for yourself. Don’t feel guilty because at the end of the day, the kids are fine. They’re doing good. So why not take, you know, an hour a day and just enjoy it for yourself.

Dr. Artemio Jongco: Building a trusting and open relationship with your medical providers isn't always easy, but one good rule of thumb is to make sure that you're honest about what your expectations are, what your goals of care are, and what you expect from your providers.

Dr. Nicholas Hartog: The one thing I recommend is making sure you have a point person, you have somebody who is in control of the disease, in control of the team, talking with everyone, making sure all the specialists talk, everyone's on the same page, to get the best care out of the team that's helping to take care of your child.

Dr. Hana Neibur: CGD is a hard disease to understand, especially because it can do so many different things. So when you go to see your doctor, it's important to write down your questions before you go, and write down your answers. Get the information you need, and don't be afraid to ask those questions. You need to feel confident in the care your child is getting. And if you don't feel confident, you need to ask more questions.

[Dr. Artemio Jongco:] Patients' family members should feel empowered to demand that their doctors have open lines of communication with everyone on the team involved in delivering care. And then when things don't quite meet your expectations, or you feel that one part of the team isn't quite living up to their job, then make sure you let them know and give them a chance to fix it.

Selma: So, once I found out that I was an X-linked carrier, I felt guilty. I felt like it was my fault that my boys had this disease. I couldn't really understand why me in a way. Some of the symptoms that I experienced is definitely the fatigue, the tiredness, …like, I'm always, always tired, no matter how much sleep I get. I've also noticed as I'm getting older like, my face, especially my cheeks, they're really, really red.

Selma: Elisha what symptoms do you experience?

Elisha: So, my symptoms, I am sensitive, more sensitive to the [00:07:00] sun. I do get red in the face as well, those rashes and things like that. I can really speak to the chronic fatigue, I suffer from that. As I'm getting older, I'm having a lot more joint pain and I've always had GI issues in my life.

Elisha: What about you, Cristina?

Cristina: My X-linked CGD symptoms have changed over time. When I was younger, I used to have GI symptoms as well as mouth ulcers, which prevented me from eating a whole lot of food and also skin rashes. But as I got older, I noticed that I'm now more sensitive to light. 

Elisha: Now I know as mothers and CGD mom caregivers, it is really hard to take care of yourself and it has taken me many, many years …to actually take care of myself... Now I finally was able to see a doctor …what about you Cristina and Selma? Have you guys had the chance to see any doctors concerning your X-linked carrier status?

Cristina: Not for me. I'm guilty of being my own careless caregiver….Now that Liam is in a much better place. I hope that I can finally look at a local specialist who's familiar with CGD. What about you Selma?

Selma: In the same boat as you Cristina. I haven't seen anyone yet.

Selma: I do realize that there is a potential of X-linked CGD carriers to be at a risk of getting infections.

Elisha: So, that's my understanding as well. That's why I ended up going to see an immunologist.

Elisha: One of the first things that my immunologist suggested that I get was the dihydrorhodamine or DHR test for myself. 

The percentage of the amount of working neutrophils that you have can really affect what kind of symptoms you’re having, and the lower amount of working neutrophils that you have can raise the amount of symptoms that you’re having. And this amount can actually change over time. 

So having the DHR test being taken over time, over and over again, as recommended by your doctor, is really, really important to have, so that you can take care of yourself and keep an eye on how your health is doing and what steps you might need to take as far as your health goes. 

Cristina: I’m curious to see what the doctor will tell me about my CGD carrier status…and what type of medical care I would need. That way I can continue being a good, reliable caregiver for my son.

[Audio read of ISI]

Selma: Hi, Cristina. Hi, Elisha, it's so nice to see you ladies.

Cristina: I know. It's been a while, oh my gosh, so many things has happened since we last saw each other. I’m so happy to see you, Elisha and Selma, again here.

Elisha: Hi, everybody, it's so nice to see you, Cristina and Selma. It’s great to be here today.

Selma: I feel like as I meet other moms that are X-linked carriers and that have kids with CGD…we all just kind of have this unbreakable bond because we have gone through the same thing.

Cristina: Selma, I actually learned from one of your posts about taking it one day at a time. I didn't realize how powerful that was. Because you know, we're not in control of a lot of things.

Elisha: We want to be in control and make sure that everything's okay for everyone. I had no control over that factor that I was a carrier, there was so much guilt and shame and blaming myself for a very long time that took place, that I really had to work through.

Cristina: Just having that support with the caregiving is very, very  important because we can't do it all and I don't think we should do it all because it's putting an impossible demand on ourselves and it will come at a cost, at a cost of our mental health, physical health.

Elisha: There's so many ways to take care of yourself. There's the mental aspect of things. There's the emotional aspect of things. There's the social aspect of things. You know, this sisterhood that we have of being X-linked CGD carriers and knowing that you both have felt the same guilt and the same even symptoms that I have felt in a lot of situations…helps me feel not so alone and that is so helpful. 

Elisha: Self-care is like using a credit card. You can, you know, if you're, if you’re going through all of these things and you're being a caregiver, then in you’re losing sleep, then say you're swiping that credit card, and then you're worrying about something about [00:23:00] your child while you're swiping that credit card again and again and again…and all of a sudden, you have this insurmountable pile of weight and baggage that you are carrying over time, and you need to be able to take self-care in whatever way that works for you and be able to take away some of those charges per se, on your mental and emotional health, to be able to revive yourself because we're only as strong for our family when we are strong for ourselves, and when we take care of ourselves.

Selma: And like I said, over and over again, one day at a time. Baby steps, baby steps in everything.

Selma: Even though our stories might be a little different, based on the experiences we went through, that bond, is just, it's unbreakable.

Cristina: It sure is.

Elisha: Yes, very true. 

Elisha: Well, ladies, it was so good to see you guys and talk with you today.

Cristina: I feel very blessed with this CGD carrier moms sisterhood that we have going on.

Selma: I enjoyed spending time with you and just talking and being able to express our feelings and without any judgment…hopefully, we can do this again soon because it’s definitely been a blast.

[Audio read of ISI]

Dr. Patel: I’m really excited to be here to answer questions about CGD.

Dr. Patel: Here’s our first question. What symptoms of CGD do X-linked carriers usually have?

Dr. Patel: That’s a great question. X-linked carriers can have a variety of symptoms, including lupus-like symptoms. They can have rashes, photosensitivity to the sun. They can have joint pain and joint swelling. They can even have fatigue, as well as weight loss, and including gastrointestinal symptoms such as vomiting and diarrhea. 

Dr. Patel: The next question comes from Cristina in Kansas.

Cristina: “I have the genetic test results right here showing that I’m a carrier of CGD. What should I do with it?”

Dr. Patel: That’s a great question, Cristina. Those results should be evaluated by a person who is familiar with CGD. If you have signs and symptoms of CGD, you should also express that to your physician so that you can get treated for that. Family members should also be aware of your test results as other family members may need to be tested as well. 

Dr. Patel: The next question is: I’m an X-linked carrier of CGD. Can I get serious infections like my son who has CGD? 

Dr. Patel: Actually, yes. You’re at risk for serious bacterial and fungal infections. Just like your son, it’s important for X-linked carriers to find somebody to take care of them who knows about CGD and can help address your risk for serious infections.

Dr. Patel: We had another question that relates to the last question. How would I know if I am at risk for a serious infection? 

Dr. Patel: X-linked carriers can have a test called dihydrorhodamine, or DHR. The DHR test is the test to diagnose CGD.

If you think about the immune system, your white blood cells are constantly fighting off infection. They are like little Pac Man gobbling up bacteria and fungi and then producing a chemical that destroys those organisms. What the DHR allow us to do is to detect that chemical. But when that chemical is absent, that can cause symptoms of CGD.

In patients who have CGD, white blood cells produce an abnormal amount that’s usually low and that can be picked up on the DHR test.

X-linked carriers who have a DHR test of usually less than 10% are at increased risk for infections. 

Dr. Patel: Who has our next question? 

Doris: Why do some X-linked carriers show symptoms and some don’t? 

Dr. Patel: These are all such good questions.

Dr. Patel: Females have 2 X chromosomes. And 1 chromosome is typically inactivated. The faulty gene occurs on the X chromosome and more   X chromosomes can be active with the faulty X-linked gene. In that case, there is a higher possibility that X-linked carriers could develop symptoms and that’s why getting tested with the DHR is so important. 

Dr. Patel: The next question is: I’m focused on my son’s care for CGD and working with his pediatrician. What kind of doctor should I be seeing for myself? 

Dr. Patel: X-linked carriers should be seeing physicians who have treatment experience with CGD. These can include infectious disease specialists and allergists and immunologists. 

Dr. Patel: We have time for one more question. 

I’m feeling really stressed these days. It’s a lot to take care of a child with a rare disease. Any advice for how to reduce my anxiety?

Boy, we hear that a lot...and it’s very important that X-linked carriers take the time to take care of themselves. Make sure that you eat a balanced diet, exercise, and get plenty of sleep. The better you can take care of yourself, the better you’ll be able to take care of your child with CGD.

Dr. Patel: The key takeaways for X-linked carriers are: 

That X-linked carriers can be at risk for serious infections.

You should have a DHR test to assess your risk for infection.

And more importantly, your risk for infection can change over time.

Dr. Patel: If you have questions, reach out to the CGD Nurse Advocate Call Center at the number shown on the screen.

Remember this doesn’t replace conversations with your doctor.

Our topic today is genetics and genetic testing. This can be an overwhelming and complicated topic. That's why we have Chelsea Roadhouse, our genetics counselor, here to help with your questions. Chelsea, great to see you.

Chelsea: Thanks, Dr. Patel. It's great to see you, too, and it's a pleasure to be here today. Ah, genetics, genetic testing—it's a complicated subject and I've spoken with hundreds of families that have lots of questions about all of this. Some families, they don't even know what questions to ask, but they're looking for more information. So, this is a great opportunity to answer some of those frequently asked questions for the CGD community.

Chelsea: I'll take the first question, which is: Can you explain the role of a genetic counselor?

Chelsea: A genetic counselor is a healthcare provider who has expertise in genetics, genetic testing, genetic conditions. Our role is to help explain genetic concepts to families so they can understand how their DNA can play a role in their health. We help families understand the genetic process—the testing, what it involves, possible results and next steps, pros and cons of testing—so that each of our families can make the decisions that are right for them. We also help to empower and support families as they adjust to a genetic diagnosis and help them to be advocates amongst their family members, their communities, and with their healthcare providers.

Dr. Patel: Here's a good question: "What types of testing are there for CGD?"

Dr. Patel: There are several types of testing for CGD. The most common is called a dihydrorhodamine assay, or DHR. It is a good initial screening test for chronic granulomatous disease. It detects the production of a chemical called superoxide. That superoxide is important by killing different types of microbes by your white blood cells. In the presence of CGD, the DHR assay will be abnormal, in that it will not pick up that superoxide production.

Another test, called genetic testing, can identify a variant or mutation that is the cause of CGD.

Dr. Patel: Another question we received is: "What will the test results tell me?"

Dr. Patel: The genetic test results that you get can be either positive or they can be negative, or they can be uncertain. In the cases of a positive test, that will indicate whether you might be affected by CGD or whether you're a carrier. In the case of a negative test result, that concludes that you do not carry the gene for CGD. Sometimes the test can come back as uncertain, and in that chance, you should really talk to your immunologist and genetic counselor to determine the next steps.

Dr. Patel: Another question is one we hear all the time: "Why is genetic testing important, and do we really need it?"

Dr. Patel: Genetic testing is hugely important. Genetic testing can confirm the initial positive results of a screening test, which obviously is important. The other thing that genetic testing can help do is—if the initial screening test results are inconclusive— genetic testing can help confirm whether the test result is positive or negative.

As a clinician, the genetic test results can be used to predict whether patients will have a more severe course, such as with X-linked CGD, or a less severe course, as is often seen with autosomal recessive. And for planning purposes, genetic testing can help decide if carriers who carry the disease, can receive genetic counseling and understand their risk for passing on that gene to offspring.

Chelsea: Exactly. I would also agree that genetic testing is very important. It gives us a great tool to screen other family members who they themselves may have CGD or who may be carriers. Some families wonder which branches of the family tree could be affected or what it means when they're having families of their own. And those genetic tests offer us a great tool for answering those questions.

Chelsea: I love this next question—so many people will relate to it.

Chelsea: My mother is in denial that our side of the family has CGD in our genes. I think she might be a carrier herself and that some of her lupus-like symptoms are because of CGD. But she won't listen to me when I try to talk to her about it. Any advice?

Chelsea: Many families tell me that it can be difficult to talk about the CGD diagnosis with their relatives. I always encourage our families to remember that there can be a lot of emotions at play when thinking about testing for CGD. Some individuals might not want to admit that they're experiencing symptoms or might not want to be seeking out additional medical support—that denial example you've used.

Other family members might feel a sense of responsibility if they think that it's something that they've passed on to their families. It's important to remind them that we don't get to control the genes that we inherit or the genes that we pass on. It's just a part of ourselves.

Dr. Patel: I completely agree, Chelsea. I think it's important to be open, honest, and acknowledge some of the barriers that come along with disclosing your diagnosis and encouraging other family members to get tested. There may be barriers, such as financial, or even the impact of what a positive test would be. Ultimately, be firm, and be strong, but be very supportive no matter what the decision is.

Chelsea: Cost is always an important consideration when it comes to anything related to our healthcare, so this is an important question to address.

I'm hesitant to get genetic testing because I'm not sure I can afford it. What should I do?

Chelsea: Many families have questions about the cost of genetic testing and if it's truly available to them. Many insurance companies do cover genetic testing, so we would encourage you to speak with your insurance company to see what options are available. You can also discuss this with your healthcare provider or the genetic testing laboratory itself. Don't let cost be the one thing to get in the way of you having a genetic test. Work with your insurance, your healthcare providers, and the labs to help this be available to you.

Dr. Patel: Those are great questions. If you have other questions, feel free to reach out to your CGD Nurse Advocate.

Don’t ever feel intimidated by the doctors or the nurses. They don’t always know what’s going on with your child. You know your child best, better than the doctors. So stand up, and if you feel like something is wrong with your child, just be consistent and don’t give up. Get the answers that you need.

Being your child’s voice is the main thing you’re there for. I’m the one that’s with him every day knowing the symptoms and knowing something is wrong. So when something is wrong, being that advocate to say, no, this is what’s happening. Here is the documentation of what’s been going on. You don’t want to hold back anything. Even if you think it’s silly.

You have to advocate for yourself because they’re not going to ask the right questions. They don’t know your body the way you do. And something that feels very insignificant could be something very major.

Having a good healthcare team is essential for anybody trying to manage CGD. You need somebody who listens to you, who will work with you, who understands the intricacies of this disease.

We would bring our information on CGD, our book on it. I made sure every nurse had a copy of the information out of that book so they knew what they were treating.

So the minute you enter as an inpatient, you want to start speaking up and saying I really think this is bothering me or I really am concerned about this, and not with just the doctors but with the nurses and the nurse practitioners around you because the more people you can incorporate into that care team as an inpatient, the better off it’s going be and the earlier it’s going get diagnosed for you and treatment can begin.