CGD (Chronic granulomatous disease): Is BMT next?

Hi @eagle1903 Chronic granulomatous disease, or CGD, is a genetic condition where white blood cells are unable to protect your son’s body from potentially harmful bacteria and fungi. This leaves him susceptible to serious infections throughout his life.
https://www.mayoclinic.org/diseases-conditions/chronic-granulomatous-disease/symptoms-causes/syc-20355817
When the condition is severe, doctors will suggest a bone marrow transplant. This is done because your son’s current immune system is basically defective. It can no longer protect him. By having a donor with a 90% match donate stem cells for your little boy, that healthy person’s immune system will take over the job of protection. This is the only potential cure for your son. If it works as intended, he could avoid years of being treated with long term antibiotics and potentially live a full and happy life. I’ve had a bone marrow transplant myself for a different disease. And it gave me a second chance at life 6 years ago.

While the transplant process isn’t easy, it can be worth the positive outcome. I’m sorry your little boy is having to endure all these illnesses. It isn’t fair for little kids to suffer. But fortunately there are treatments which can offer hope for a future. What are your concerns for having the transplant?

First of all, I wish you a speedy recovery.
Thank you very much for taking me into consideration and showing interest.
The diagnosis and transplant process were very fast for us. This also makes me nervous. We are slowly getting over the shock of such a situation and I am doing research in this process.
You are a very good example who has successfully undergone a bone marrow transplant. If it does not upset you, can you tell us about the process?
Some articles say that it is possible to live for many years with drug treatment, but as you said, the definitive solution is bone marrow transplant, even though it is a difficult process. We are afraid of the complications that may occur during this process.
Thank you very much for your interest.
I wish you a healthy and beautiful life❤️

Hi @eagle1903, I’m fully recovered from my leukemia and transplant journey. Thank you. 🙂 It doesn’t upset me at all to talk about either issue. That’s one of the reasons I’m here in Connect, to help others navigate the bone marrow transplant process and also offer hope that there is life after a transplant. This is a field that is rapidly gaining momentum through research and patient experience. So many blood cancers, diseases of the bone marrow and autoimmune issues are being treated and often cured.

I can’t imagine the stress you’re under with how quickly this has all transpired! Your apprehension with the prospects of your little boy having to undergo this lengthy process is completely understandable. There must be a strong feeling that this would be the best outcome for your little boy for his doctor’s to suggest a transplant. As with any medical procedure, there can be complications. But transplant teams are so committed to their patients and will do their utmost to keep your little son comfortable and safe. They want a good outcomes too!

I think having a consultation with a transplant doctor at a Children’s Hospital would be helpful. They would be the most ideally suited and experienced specialists for this situation. You’d be able to ask questions and weigh the risks vs benefits. While they can’t make the decision for you, they may ease your mind about the transplant. I know my husband and I felt so much more confident in the decision to go forward once we met my doctor and learned more about what I’d be going through.

I’m also wondering if your son’s doctor or transplant doctor, especially if it’s in a child-centered transplant facility, could connect you with a mentor for you and your son…maybe parents who have had a young child go through this process. My experience is with adults and a few teenagers. I’m here anytime for you as a sounding board and would like to follow along with you. Let me know if I can help in any way. Is there a target date for the transplant?

Thank you very much...🙏
I am thinking of applying to another hospital for a second consultation.
I feel the need to understand the situation better and confirm that we are on the right track.
Our planned transplant date is
April 24-30.
Like you, we also want our son to regain his health and live freely. The fact that we will make decisions on his behalf increases our burden.
But I will take your suggestion into consideration and try to find a life coach or consultant in our hospital on this subject.
The words you use are definitely inspiring.
❤️

Hi, my son 16 months was just diagnosed with CGD. How is your son doing ? How are you ?

I am searching for information but can’t seem to find much. I was wondering if you’d be willing to share how your son is doing now? And a little more about your experience?

Hi @cgdboymom While you’re waiting for a response I’d like to welcome you to Mayo Connect. I found some information for you regarding your son’s condition of CGD Chronic Granulomatous Disease:
https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/
Other informational sites which might allow you to find some help.
https://cgdsociety.org/wp-content/uploads/2019/05/CGDS-Medical-Guide.pdf
https://www.medicalnewstoday.com/articles/chronic-granulomatous-disease
If you don’t mind sharing a little more, what type of treatment is your son receiving? Since this is a rare disease, has he been evaluated at a larger research/teaching hospital? Has how was his diagnosis discovered?

He is currently being treated in the hospital while the team focuses on stabilizing him, especially managing a lung infection and fevers. They’ve started him on IV antibiotics, including Vancomycin, while they work to get the infection under control before moving forward with the next phase of treatment.

He’s been diagnosed with Chronic Granulomatous Disease (CGD), which we now understand is the underlying cause. The diagnosis came after a series of serious infections that led doctors to do more specialized immune system testing.

Because this is a rare condition, he is being treated at a major children’s hospital with specialists experienced in immunodeficiencies, and we’re also discussing next steps with a broader care team. Ultimately, we’ve been told that a bone marrow transplant will likely be needed as a long-term treatment.

Right now, the focus is getting him stable and infection-free so we can safely move forward. It’s been overwhelming, but we’re grateful to have a team that’s been very thorough and proactive.

@cgdboymom. Oh my goodness, your son is certainly having to cope with a great deal of medical drama…you too! It sounds like he’s being well taken care of now that there’s a diagnosis. With that information his doctors can move forward with a more long term treatment plan.

I know it’s frightening right now with all the antibiotics to get him stabilized. I dealt with similar issue of infections and fevers 7 years ago at the age of 65, with a diagnosis of leukemia. My husband took a photo of my IV cart…there were 18 bags of ‘juice’ piggy-backed into my IV bag…several of which were broad spectrum antibiotics. I went on to have a bone marrow transplant. It was highly successful. So while this all seems intensive and overwhelming it is a means to allow your son to regain some normalcy in his life.
Your son is young and our bodies are meant to heal. Sometimes they just need some help to get past the hurdles. So I certainly wish him all the best going forward! I’d like to follow along with your son’s journey. Will you keep me updated please?

Hi @cgdboymom, It’s been a couple of weeks since we talked. Just wanted to drop in to see how your son is doing. I hope he’s stablized now after being treated for the lung infection and can move forward with his bone marrow transplant in the near future. Has there been any new discussion in that regard?