Funny Name...Complex Condition

So, Blue Rubber Bleb Nevus Syndrome...what is it exactly?  We still don't know a lot, but here is what we do know.  We will find out much more when we go to Boston and talk to the experts on this condition, and I will likely post an update of information that we learn after our trip. But for now, here goes... BRBNS is a non-genetic spontaneous mutation that happens early in development causing an abnormal growth of blood vessels.  It is like an inborn error, that causes his body to produce overgrowth of veins throughout his body. There is no way to switch it off, or tell his body not to do this.  These lesions act almost like tumors in how they can affect the body in whichever area they grow.  It causes the visible skin lesions, which can be only a few, to hundreds.  He will continue to make new ones, and what he has will grow and regrow if removed or lasered.  The skin lesions are the mildest problem, though can be cosmetic, and frequently grow on the feet and can cause pain enough to interfere with mobility.  The major problems are the internal lesions, like the one in Jacob's chest and back. The internal lesions have a proclivity for bleeding, as we experienced last fall.  They most commonly grow in the GI tract, (also can be hundreds of them) causing bleeding. Most patients develop this eventually, ranging in severity. Sometimes it is slow, chronic bleeding, usually noted as blood in the stool, and sometimes it is very acute hemorrhaging, causing massive vomiting of blood.  There is no rhyme or reason in how or when it presents. Most all patients have had multiple blood transfusions, at times 50 or more to replace blood lost from bleeding lesions. In some cases, surgery is necessary to remove bleeding lesions, but results are temporary as lesions will regrow over time. In addition, patients are at risk for intussusception, a condition where the bowel folds on itself, as the bowel tries to digest lesions it mistakes for food.  This also requires surgery to correct.  Both the bleeding lesions and intussusception are very painful conditions we hope our Jacob is spared from.  In addition to intestinal lesions, the "blebs" (tumors or lesions) can grow on bones, causing extreme pain and warping of the bone, limiting use of an affected limb. The scariest complications are lesion growth in the brain, which can bleed causing an aneurysm, and growth around the spine that can damage nerves and thus have the potential of causing severe irreversible damage.  Jacob's back/chest lesion is in  very close proximity to his spine, to the point where we actually saw it affecting nerves when it grew.  Damage to spinal nerves can be irreversible, causing paralysis.  This is a very real fear we have that we ask for your fervent prayers for this to stay under control as to not affect his mobility.
   
Treatment of BRBNS is aimed at preventing damage from growing lesions, primarily through sclerotherapy. As the lesions are vascular, surgical removal is usually not a favorable option.  As described before, with sclerotherapy, they inject a sclerosing agent into the vessels causing them to involute, or shrivel up. The problem is this creates scarring internally that can eventually after so many treatments, render it ineffective due to extensive scar tissue. So they can only treat when lesions are causing problems.  They are currently studying medication therapies to suppress lesion growth, but all have many side effects, and long term use is unknown. So far all they have tried, as soon as patients go off the medication, the lesions return and grow very rapidly. So we are still hoping for progress in this area.  Additional treatment is aimed at replacing blood lost via transfusion. Jacob has had one, and we are told to expect many more transfusions in his future.  We ask that if you are able, to please give blood as often as possible. Though it is impossible for us to predict when Jacob will need it, someone will, and one day it will be our boy, so we just ask that you do this one thing for us whenever you can.

I say all of this to help you understand the scope of Jacob's condition, and let you see that though Jacob looks fine, the potential of this is terrifying to us.  The helplessness we feel in preventing harm to our son is something we battle daily.  We are learning the true meaning of trust and what it is to give your child to the One that made him. We do not want to live in fear of this condition, and are trying to embrace living in the moment.  Jake is well today, and we want to enjoy that.  We do not know as of yet if there are ranges in severity of this disease; if so, we hope our Jake falls in the milder spectrum.  All we have read though is discouraging.  Because of this, we are praying for a miracle each day.  Not a huge, loud miracle. Just a simple one. For Jacob to be healthy today.  We pray this every day, and will be thankful for each one.  And if all these potential complications never happen to our son, then our daily prayers for "just today's miracle" will add up to a healthy life for our boy.  A miraculous life.