Seeking Treatment for RDEB

The only clinical trial open to Kiira’s diagnosis and age is the bone marrow transplant in Minneapolis. A couple of helpful conversations with the parents of participating EB patients and and a review of the process is making them seriously consider this as an option for Kiira. It scares them to death because Kiira would have to go through a week of chemo and then go through the bone marrow transplant, most likely using one of her sisters as a match, and take on so many risks. She would probably be hospitalized for at least a month, but some have stayed much longer. A bone marrow transplant is not a cure, but would deliver collagen VII to Kiira’s skin as needed. Some problem areas, which they can already identify are her calf and heel; may remain problem areas until gene protein therapy is approved for her use. However, the way they look at it is: Kiira will end up with these risks and more just with EB and if there is a chance to give her a better life, why wouldn’t they take it? Of course, they still need to see how things go over the next few months and if she remains mild, they wouldn’t pursue it, but right now, they want to get the ball rolling since so few patients are taken. Thankfully Jason and Kirsti have jobs that would probably allow us to work from anywhere, so even if they ended up in Minneapolis for months, they could make it work.

To learn more about the procedure you can read it here:

So new prayers are needed to help them with this decision. If doors open for them to do it and she is a candidate for it, then they will take that as a sign that this is how they should proceed, but if not, then they will just trust that God has other plans for her.

This post from “Help Anton” explains in detail why they are considering a BMT for Kiira despite the risks involved:

As I have mentioned, we are possibly seeking a bone marrow transplant for Kiira based on her genetic results (if she even qualifies). I know some have reservations about it because of the high risks it imposes, but I feel like the post from “Help Anton” below explains our reasons so well. When I talked to Kiira’s dermatologist about it, she felt it was too risky, but told me that we don’t have to worry about her hands and feet fusing until she is about 2. Kiira wouldn’t need an esophageal dilation until she is about 5 and the earliest skin cancer appearances in EB patients is at about 8 years old. Hm, and I want my baby to go through all of those things, plus numerous infections, extensive scarring, nutritional issues, internal damage, physical developmental delay, daily pain and medication and more? While we continue to pray for miraculous healing for Kiira so that she wouldn’t have to go through a BMT or a life with EB, we know we also need to be proactive. We don’t even know if Kiira is a candidate for BMT, but with 2 mutations that result in no collagen VII production, we want to follow up on any possibility that can give Kiira a better quality of life.

Help Anton Post
“I have had a few people ask me why we are doing the bone marrow transplant now instead of waiting for the gene therapy that Dr. Tolar is working on. I thought it was a great question so I’m going to answer it here just in case some of you were wondering the same thing or were just wondering why we are moving forward with the Bone Marrow Transplant.

We have known about the Bone Marrow Transplant pretty much since we found about about Anton. We have followed Dr. Tolar’s work closely and we were very hopeful that at some point Anton would get the Bone Marrow Transplant done.

The first two years Anton was home we just didn’t think the risk of getting the Bone Marrow Transplant done outweighed the risk of not doing it. He seemed pretty healthy (although he was hospitalized several times for infections). He didn’t seem like he was in a lot of pain, and overall he had a great quality of life.

As more time has gone on I have have seen countless children and adults lose their battle with EB. Most of the people who have passed away these past few years have Anton’s type of EB and most of the people who have passed away have died before they turned 20.

The harsh reality is Anton most likely won’t live to see his 20th birthday unless we do something to intervene.

During the past 6 months or so we have noticed Anton is in more pain than not. He is still happy and joyful, we can just tell that his EB is affecting his daily life. It seems like his quality of life is not what is could/use to be.

Anton had a normal echo done on his heart in October of 2013 then in July of 2014 his echo showed that the left ventricle of his heart was dilating. At this point his heart is still functioning normally but I talked to the cardiologist at the patient care conference and he said almost always in patients with RDEB once the left ventricle starts dilating it will eventually turn into cardiomyopathy. (Cardiomyopathy is a weakening of the heart muscle or another problem with the heart muscle. It often occurs when the heart cannot pump as well as it should, or with other heart function problems. Most patients with cardiomyopathy have heart failure, “google”)

If Anton loses heart function he will no longer qualify for the Bone Marrow Transplant.

Dr. Tolar spoke at the Patient Care Conference we went to this year and it was so amazing to see how far his research has come. It is FAR less risky than it was 2 years ago.

It is hard to know how much Anton needs this when you see mostly happy posts on his facebook page. The harsh reality is Anton’s eye lid gets stuck to his eye ball at night and when he opens his eyes it literally tears the top layer of his eye, he has a large wound on his knee that has NEVER healed in the almost three years he has been home, he is terrified to poop because the one time his stool was hard it tore the lining of his bottom causing extreme pain, he gets blisters in his throat that pop which makes him throw up blood, his fingers are fused together and he has lost almost all the function in his right hand because his thumb is fusing to his hand, bath time is painful instead of fun, he can’t scratch his face at night without tearing all the skin off his nose. This sweet boy suffers so much and if we can help relieve just a little bit of his suffering we want to.

Knowing that if Anton loses heart function he will won’t be able to have the BMT done, seeing how much pain he has been in, and knowing that the Bone Marrow Transplant could at the very least give him a better quality of life we felt like it was the best option for Anton to move forward with the transplant.

We are in close contact with several people who have had the transplant done and we are very hopeful for what the future will hold for Anton post transplant.

Dr. Tolar is an amazing doctor and he truly cares about people with EB and their families and I know that he won’t stop fighting for a cure.

We are thankful that God has allowed us to move forward with the Bone Marrow Transplant. We are praying for God’s will in all of this and praying that God will be glorified through Anton’s life.

For from him and through him and to him are all things. To him be glory forever. Amen. Romans 11:36″

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