X-linked CGD carriers

As an X-linked carrier, you are a part of a unique sisterhood. You may be caring for a child with chronic granulomatous disease (CGD), all the while not feeling well yourself. Learn how to navigate your journey and find support from the CGD community.

What it means to be a carrier of CGD

Hear these stories of two mothers who are carriers of CGD, how they learned about their diagnosis, and their symptoms.

Read the full video transcript

So I learned at a very young age that I was a carrier. When I realized that I was a carrier of CGD, it made me think differently on my life future and having more children. And the effects of if I did have another child of it having CGD or not having it.

After Ricky was diagnosed with CGD, they said that it had to come from somebody in the family. And so our whole family went down to the university, and we all got tested. When the doctor came in he sat down, and he just put his paper down on the desk, and then he said, “it looks like you’re the carrier.” You kind of feel guilty in a sense when you’re a carrier. You know, when you’re a mom that loves kids.

The advice I would give CGD moms is not to be so hard on yourself. I’ve had the experience of talking to moms. And I know this from speaking with my mother that there is a lot of guilt associated with this disease. My mom has felt that way because it’s passed down.

I was adopted. So I had no clue of any of my past medical family history at all. So there was just a big blank there. When I was a kid, I always had the butterfly rash. And I remember having joint pain. I have seen physicians, and I’ve actually been seen at the lupus clinic.

I think I started getting symptoms maybe about probably 10 years after I was diagnosed. I started noticing little bumps like my sister’s. She had lupus. And I’ve noticed the older that I get too, if I get a cold or something, it seems to settle in my chest longer.

Advice that I would give to another parent of a child with CGD would be if they started having symptoms, that they were seen by a physician to find out what’s going on with their system because as a parent, you have to be healthy to take care of your child.

And I would tell CGD moms it is absolutely not your fault. And I think they need to hear that. And I think they need to understand that despite everything that the child is going through, they could not do it without the support of the parents and the moms especially. I could have not survived without my mother.

Understanding and managing symptoms

Get insights and tips on CGD symptoms.

Read the full video transcript

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]

Caring for carriers of CGD

Hear how these women put their own care as a priority.

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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]

All about X-linked carriers of CGD

Learn about symptoms and how to navigate information.

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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.

Why it's important to test and what it means

Talk to your doctor about testing options.

Read the full video transcript
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.

As an X-linked carrier of CGD, you may not be just a carrier

A CGD diagnosis of a loved one may be an emotional journey. CGD carriers may also have days where they don’t feel well. Carriers may experience symptoms that may require monitoring and treatment. Talk to your doctor about treatment options that lower the risk of serious infections. Symptoms to look for may include:

Icon of person with a rash on their body
skin rash on
face, hands,
and chest
Icon of the sun illustrating sensitivity to the sun
to the sun
Icon of lightning illustrating joint pain
pain and
swelling in
the joints
Icon of a person sleeping at their desk illustrating fatigue
tired all of
the time
Icon of a weighing scale illustrating weight loss

Learn more about carrier symptoms >>

Up to 23% of X-linked carriers may experience significant infections

Up to 23% of X-linked carriers may experience significant infections, which, if left untreated, may become life-threatening. Over time, your immune system may change and may begin working less effectively, which may increase your risk of CGD-related infections. 

"What did I do to get this?"

It’s common for carriers of CGD to have feelings of sadness or guilt, especially in the beginning. If you're having trouble sleeping and/or anxiety, talk to your doctor to get the support you may need. Make sure you're taking care of yourself so that you're healthy enough to care for your child with CGD, too. Use the CGD Specialist Finder to locate an allergist or immunologist who can help you create a plan to be evaluated, monitored, and potentially treated for any symptoms you may be experiencing as an X-linked carrier of CGD.

The importance of DHR testing as an X-linked carrier

There's a blood test called a dihydrorhodamine (DHR) test that you and all X-linked carriers of CGD should know about, whether you’re symptomatic or not. A DHR test can help:

  • Determine how well your cells are able to kill bacteria and fungi
  • Assess/identify your risk for serious infection
  • Monitor potential changes over time—your DHR values can change as you age
  • Guide your doctor’s treatment decision

What do your test results mean?

Talk to your doctor about your overall health and risk for infection. The most important takeaway from your DHR test results will be your % DHR positive rate. Having a % DHR positive rate of:

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