First of all, it's not really 'holes' in the lungs. They are more like lesions. But we'll get to that.
Basically, it is a very rare and complicated vascular disease. It can strike anywhere in the nervous system, brain, lungs and liver. We don't know how extensive the disease is in Sam but we do know that he has multiple lesions throughout both lungs. This kind of AVM is quite rare. The connection between the pulmonary arteries and veins are faulty and bypass the capillary system altogether.
Normal arteries carry blood from the heart to the lungs and from there gets sent out throughout the rest of the body, taking with it rich, oxygenated blood as it passes through the capillaries. The blood is then returned to the heart by way of the veins. The capillaries job is to give up the oxygen and remove the waste.
In AVM's the capillaries are bypassed and so this creates a lot of pressure in the lungs and the heart. This makes the AVM's larger and creates more pressure. It also makes the heart work harder to move blood through. It also causes an increase in waste product and decrease in oxygen because the blood isn't being filtered through the capillaries. The result is a tangled mess of blood vessels that are very ineffective.
This disease can be very painful as it progresses. Here are some other symptoms caused from AVM's
- Co-ordination issues, muscle weakness
- Memory and thought problems
- Heart Failure
- Progressive neurological difficulties
These are just a few of the complications. It's a given that one will experience shortness of breath and clubbing of the fingers as well as complications with breathing. Bleeding problems are also very common.
The disease can remain stable if symptoms don't appear until age 40 or 50 but in young people and when other diseases are present, it's extremely complicated and often progresses. If a person just had one AVM, they could do surgery to repair it. With Sam, he has so many, it would be nearly impossible to surgically repair them. His only chance might be a heart/lung transplant but that would be difficult given the complications he already has with Dyskeratosis Congenita.
So, it's all very complicated and I'm just starting to wrap my head around this.
Currently, Sam is experiencing over 200% pressure in his lungs and a 35% increase in pressure in the right chamber of his heart. Instead of the right chamber receiving blood that has been depleted of oxygen because it was all delivered to the organs, it is full of oxygen and creating the pressure and shunting. the cardiologist told me that 35% is very high but they won't panic until he reaches 40-45%. Who knows how long it takes to get there. He could stabilize but he might not either. Only time will tell. Keep in mind, the right chamber of your heart is not designed to hold on to oxygen.
It's a mess. It's a mess that comes without answers or at least not easy answers. I'm not sure what happens next. As for Shelbie, she will see the doctor next week and hopefully do more testing for Pulmonary AVM's or receive her official diagnosis...or not. Her lung pressure is at 168% so not quite as high as Sam but far from normal. Her heart pressure is not elevated at this time which is great news! Her CT scan is in line with a Pulmonary AVM diagnosis so, it won't surprise me if she has this issues as well.
It makes for a scary and unknown future and a complicated one as well.