Thor and the Bone Marrow Transplant
Donation protected
Please help us. We are the Uran Family. Justine, Dustin & Little Thor.
In February of 2016, our family of 4 will be headed off to Duke University in North Carolina where our son, Thor, will undergo a bone marrow transplant.
Thor has a rare genetic condition known as chronic granulomatous disease or CGD for short. There’s a lot to this disease and you can read more in depth about it at the end of all this, but the main factors of it mean that Thor’s immune system cannot fight off certain types of bacteria and fungi. He’s on daily anti-bacterial, anti-fungal meds, and takes a shot of interferon gamma once per week to help in this area. It does help prevent infections, but in no way is this a cure for what he has.
A bone marrow transplant (BMT), on the other hand, will 100% cure his condition. That’s very easy to say, but will be terrilble to go through. For us as parents, and especially Thor. We absolutely dread knowing we have to watch our son go through this.
For a BMT, Thor will first go through about a week of heavy chemotherapy treatments. Along with that comes the hair loss, and all that other garbage you get with chemo. They use it to kill his bone marrow and wipeout his immune system. It’s not so much the marrow that’s that's bad. It’s the stem cells that live within the bone marrow that you’re trying to replace. For his disease you’re basically replacing his defective immune system with the properly working immune system of the donor.
For the new cells to take and fuse with his body, it takes about 6-8 months. The first 3 months are very critical as he’ll be without any immune system while the new cells slowly graph themselves in and build a new immune system.
During this time both Justine and I will be without income and with a lot of medical bills. That is precisely the reason for this GoFundMe Page.
Now for a successful BMT, you need to find someone to be gracious enough to give you their cells. This isn’t always easy, but thankfully we have the perfect match. I will allow the donor to remain nameless, but that’s only because the donor has no name. Confused? I don’t know if you noticed in the beginning when I mentioned our family of 4 are heading to Duke, but if you did, it was not a typo.
That’s right ladies and gentlemen…. Justine is pregnant!!! Praise God!! We tested the baby in utero and found out #1 She is healthy, and #2 she is a match for Thor!!! We also found out she's a girl if you haven't guessed.
Our new baby is due March 6th. After she’s born we’re going to store the umbilical cord blood and use that for the transplant. If our daughter chooses not to let us use her umbilical cord and its contents, then she will be grounded. That’s one of the perks of being the parent of the donor.
Another question you may be asking is, “Why go to Duke? Can’t you go to the Mayo for this? It’s a lot closer?”
Justine and I did a lot of research going into this. We heard from the experts, we talked with other patients and parents of CGD patients.
What we learned is Duke is the #1 leading expert in BMT’s using umbilical cord blood. They have a great track record, they know what they’re doing and they have not lost a patient yet who has gone in young and infection free. I believe they’ve only had 2 CGD patients die from the BMT. One had many severe infections from the disease going into it and one was an older patient. The younger the patient, the better chance of having the BMT be successful. The odds also go up when you have a sibling donor.
We also spoke with a couple from Minnesota who went to the Mayo to give their son who also had CGD a BMT twice. It did not take either time and just about killed him. I’m not bad mouthing the Mayo. They are a great place. But for bone marrow transplants in CGD patients, they are just getting their foot in the door. Maybe in another 10-20 years that will be the place to go, but with a bone marrow transplant there is definite risk that the patient may not survive. All that it takes is one thing to go wrong, especially in the beginning stages. Duke has this thing down to a science.
It’s hard to know how long we’ll have to be out there, but once the BMT is over we plan on moving back. They usually take anywhere from 6 months to a year, depending on how it goes. And really, we have no idea how much money we'll need to raise to make this all work.
Your prayers and support are very much appreciated.
Thank you for reading all this. It was a lot, I know. Below is a more in depth description of Thor's disease.
What is Chronic Granulomatous Disease?
CGD is caused by a mutation on the X chromosome.
The part of the X chromosome that’s damaged is the area our bodies use to fight certain bacterial and fungal infections. Our bodies produce tiny amounts of bleach and things called phagocytes which we use to fight these types of infections. The disease has different severities, and Thor is in the very severe category. The doctors say he has zero burst which means he produces no bleach at all.
Phagocytes are cells that protect the body by ingesting harmful foreign particles, bacteria, and dead or dying cells. They are essential for fighting infections and for subsequent immunity. One litre of human blood contains about six billion phagocytes.
Along with bacterial and fungal infections, CGD patients are prone to develop internal swelling of organs. The most common coming in the form of colitis or swelling of the intestines or colon. They also tend to develop non cancerous tumor-like masses called granulomas. These can happen pretty much anywhere in the body. Inside and out on the skin.
Justine also has CGD. That’s how we knew to test for it. When she was a child, she was hospitalized numerous times for infections and painful granulomas. It took a long time, but they finally were able to diagnose her with CGD. Thankfully, her body has adjusted to it and she has been living symptom free for many years. But this disease typically doesn’t effect women as severely as men. In fact most women have no problems with the disease at all and are merely carriers. That is Justine’s status as of now. This is because women have 2 X chromosomes, so where one X is damaged, the other chromosome can make up for it. Boys, on the other hand, have an X and Y chromosome. So where Thor’s X chromosome is damaged, he doesn’t have another one to pick up the slack. That’s why it affects males more severly than females.
When the disease was first discovered in 1950 it was given the name, “fatal granulomatosus of childhood,” and most males who had it never reached the age of 10 years. I’m glad they switched the name to chronic granulomatous disease, because having a disease with fatal in the name is not very encouraging. Nowadays with advancements in anti-fungal and anti-bacterial medications, most males can live well into their 30’s and some into their 50’s and 60’s.
In February of 2016, our family of 4 will be headed off to Duke University in North Carolina where our son, Thor, will undergo a bone marrow transplant.
Thor has a rare genetic condition known as chronic granulomatous disease or CGD for short. There’s a lot to this disease and you can read more in depth about it at the end of all this, but the main factors of it mean that Thor’s immune system cannot fight off certain types of bacteria and fungi. He’s on daily anti-bacterial, anti-fungal meds, and takes a shot of interferon gamma once per week to help in this area. It does help prevent infections, but in no way is this a cure for what he has.
A bone marrow transplant (BMT), on the other hand, will 100% cure his condition. That’s very easy to say, but will be terrilble to go through. For us as parents, and especially Thor. We absolutely dread knowing we have to watch our son go through this.
For a BMT, Thor will first go through about a week of heavy chemotherapy treatments. Along with that comes the hair loss, and all that other garbage you get with chemo. They use it to kill his bone marrow and wipeout his immune system. It’s not so much the marrow that’s that's bad. It’s the stem cells that live within the bone marrow that you’re trying to replace. For his disease you’re basically replacing his defective immune system with the properly working immune system of the donor.
For the new cells to take and fuse with his body, it takes about 6-8 months. The first 3 months are very critical as he’ll be without any immune system while the new cells slowly graph themselves in and build a new immune system.
During this time both Justine and I will be without income and with a lot of medical bills. That is precisely the reason for this GoFundMe Page.
Now for a successful BMT, you need to find someone to be gracious enough to give you their cells. This isn’t always easy, but thankfully we have the perfect match. I will allow the donor to remain nameless, but that’s only because the donor has no name. Confused? I don’t know if you noticed in the beginning when I mentioned our family of 4 are heading to Duke, but if you did, it was not a typo.
That’s right ladies and gentlemen…. Justine is pregnant!!! Praise God!! We tested the baby in utero and found out #1 She is healthy, and #2 she is a match for Thor!!! We also found out she's a girl if you haven't guessed.
Our new baby is due March 6th. After she’s born we’re going to store the umbilical cord blood and use that for the transplant. If our daughter chooses not to let us use her umbilical cord and its contents, then she will be grounded. That’s one of the perks of being the parent of the donor.
Another question you may be asking is, “Why go to Duke? Can’t you go to the Mayo for this? It’s a lot closer?”
Justine and I did a lot of research going into this. We heard from the experts, we talked with other patients and parents of CGD patients.
What we learned is Duke is the #1 leading expert in BMT’s using umbilical cord blood. They have a great track record, they know what they’re doing and they have not lost a patient yet who has gone in young and infection free. I believe they’ve only had 2 CGD patients die from the BMT. One had many severe infections from the disease going into it and one was an older patient. The younger the patient, the better chance of having the BMT be successful. The odds also go up when you have a sibling donor.
We also spoke with a couple from Minnesota who went to the Mayo to give their son who also had CGD a BMT twice. It did not take either time and just about killed him. I’m not bad mouthing the Mayo. They are a great place. But for bone marrow transplants in CGD patients, they are just getting their foot in the door. Maybe in another 10-20 years that will be the place to go, but with a bone marrow transplant there is definite risk that the patient may not survive. All that it takes is one thing to go wrong, especially in the beginning stages. Duke has this thing down to a science.
It’s hard to know how long we’ll have to be out there, but once the BMT is over we plan on moving back. They usually take anywhere from 6 months to a year, depending on how it goes. And really, we have no idea how much money we'll need to raise to make this all work.
Your prayers and support are very much appreciated.
Thank you for reading all this. It was a lot, I know. Below is a more in depth description of Thor's disease.
What is Chronic Granulomatous Disease?
CGD is caused by a mutation on the X chromosome.
The part of the X chromosome that’s damaged is the area our bodies use to fight certain bacterial and fungal infections. Our bodies produce tiny amounts of bleach and things called phagocytes which we use to fight these types of infections. The disease has different severities, and Thor is in the very severe category. The doctors say he has zero burst which means he produces no bleach at all.
Phagocytes are cells that protect the body by ingesting harmful foreign particles, bacteria, and dead or dying cells. They are essential for fighting infections and for subsequent immunity. One litre of human blood contains about six billion phagocytes.
Along with bacterial and fungal infections, CGD patients are prone to develop internal swelling of organs. The most common coming in the form of colitis or swelling of the intestines or colon. They also tend to develop non cancerous tumor-like masses called granulomas. These can happen pretty much anywhere in the body. Inside and out on the skin.
Justine also has CGD. That’s how we knew to test for it. When she was a child, she was hospitalized numerous times for infections and painful granulomas. It took a long time, but they finally were able to diagnose her with CGD. Thankfully, her body has adjusted to it and she has been living symptom free for many years. But this disease typically doesn’t effect women as severely as men. In fact most women have no problems with the disease at all and are merely carriers. That is Justine’s status as of now. This is because women have 2 X chromosomes, so where one X is damaged, the other chromosome can make up for it. Boys, on the other hand, have an X and Y chromosome. So where Thor’s X chromosome is damaged, he doesn’t have another one to pick up the slack. That’s why it affects males more severly than females.
When the disease was first discovered in 1950 it was given the name, “fatal granulomatosus of childhood,” and most males who had it never reached the age of 10 years. I’m glad they switched the name to chronic granulomatous disease, because having a disease with fatal in the name is not very encouraging. Nowadays with advancements in anti-fungal and anti-bacterial medications, most males can live well into their 30’s and some into their 50’s and 60’s.
Organizer
Dustin Uran
Organizer
Minneapolis, MN
