Boston Roundup

We are settling in to normal life again back home. It is so good to be home and have my family all back together under one roof!  We missed our big kids so much; Jacob was so excited to see Asa & Elena! It was so cute, their little reunion.  Luke was happy to be home, as the last few days of the trip were kinda rough for him, as he is working on cutting his first tooth.  We are all thrilled to be back, and had a great trip. We are still exhausted, but hope to get caught up and back to normal soon.  Jacob is still experiencing a lot of pain at times, which they are not surprised about.  We are continuing to medicate him and keep him as comfortable as possible.  He is getting better each day, and I anxiously look forward to him being back Jake again 100%.

So I promised that I would try to give a better update on the specifics of what we learned in Boston about Jacob's condition. We were so overwhelmed with all we learned that at the time it was too much to process and be able to explain, not to mention the fact that my family needed my full attention and time.  Now that we are back home, to our old nap routine, I have a few minutes.  This is a bit lengthy, so I understand if many aren't interested, but for my medical friends and all who are just curious, read on.  We met with and spoke at length with multiple specialists, and here are some of the highlights of what we learned about Blue Rubber Bleb Nevus Syndrome.

• We can cross off our worry list brain lesions. If they do occur, they do not tend to bleed, so rarely that they do not even screen for these lesions. Though it is listed in literature as a possibility, in their experience, they have not seen this.  We are happy to lay that huge concern to rest.  
• Jacob falls into a smaller group of patients with BRBNS that have what they call a "mother lesion." This is a large, centrally located lesion outside of the GI tract.  The patients with a mother lesion are usually a little more complicated to manage simply because of the size and complexity of these lesions. Jacob's "mother lesion" is even larger than we realized, and surprised the doctors up there with its size when they began his procedure.  Jacob's consists of a large, as well as multiple small lesions on his back extending from scapula down to lower back on the left side with additional smaller lesions up and down his right side (which we did not know).  On the left side, it reaches between 3 of his ribs and expands within the space of his chest (which we knew), but additionally, attaches to and invades his pleura (which we did not know). This is a unique characteristic previously unseen by the Vascular Anomalies Team.  This also explains how he got the hemothorax after the first sclerotherapy treatment in Chattanooga, and because of this, the Boston doctors used a different approach in their sclero treatment. Unfortunately, this attachment to the pleura increases the pain Jacob will experience with flare ups of this lesion, and as well as with treatments.  The pleura is highly innervated, and these nerves when irritated, cause pain with each breath.  Good news is that Jacob will not grow another lesion somewhere else the size of this one.  Mother lesions are present at birth, and continue to grow, but a new one will not grow elsewhere to this size and extent.  It is unfortunate that Jacob's is in such a precarious place with its proximity to his vital organs and spine, but we will simply have to aggressively monitor and treat to prevent problems. Sclerotherapy is the treatment of choice, as surgical removal is not a viable option. We will continue treatment to keep this lesion small and safe for Jacob as he grows. 
• Jacob's skin lesions will continue to grow (and he will likely get more), though usually fairly slowly and should cause minimal problems other than cosmetic. If the location causes them to be painful like on hands or feet, they can be injected or removed if necessary, though may return later and require future treatment. Most patients don't report many problems with skin lesions other than on their feet.  Some of his skin lesions however, as they grow, may punch through the skin, and if on his feet could cause pain and bleeding requiring intervention.  The dermatologist did identify a couple of Jacob's skin lesions as being simple Nevi, and not BRBNS lesions, so unlikely to grow or cause problems. 
• The MRI we got in November, though necessary for his chest lesion, including the abdomen and pelvis was a waste.  We were so excited then to see no intestinal lesions, but only extremely large intestinal lesions would show up on a MRI which he is unlikely to have at this age. MRI's are just not good for diagnosing intestinal involvement; this must be done by endoscopy.  Upon examining Jacob, the GI specialist felt certain that he does have intestinal lesions, as at this age they usually mirror the skin lesions, with the GI lesions increasing with age.  Thus he expects that Jacob probably has a dozen intestinal lesions, give or take, but obviously not large enough yet to cause him to have GI bleeding. Virtually all patients with BRBNS experience GI bleeding, but with varying ages of presentation, most commonly during early childhood.  He expects Jacob to have this eventually, so we will continue to routinely check his blood counts and screen for this.  Most of the time, initial presentation is slow bleeding, not acute massive hemorrhaging. So if and when he presents with GI problems, we will get back with him to decide on management.  He will need scoping at that time, which we will return to Boston for, as they have pioneered new techniques for this for BRBNS patients.  If bleeding stays slow and manageable, they will treat conservatively with Iron replacement and blood transfusions when necessary.  Once this is insufficient and chronic anemia is severe enough, we will explore other options.  They have pioneered certain surgical techniques for removal of lesions when necessary.  However, the surgery to remove the GI lesions is huge, difficult, lengthy, and messy, and with results lasting anywhere between months to many years, depending on the patients disease progression.  It is usually impossible to remove all the lesions, and they will return as well. The good news is that with new medication therapies, they are hoping this surgery will become obsolete. More on those later... Overall, we learned a lot about the GI aspect of this condition, which is the primary problem for most patients, and feel more prepared for the possibility (or probability) of this complication.  We also we told what to do if he has other issues related to intestinal lesions here at home, what to tell our doctors here, and what to ask them to screen for in an emergency.  
• We met with the Hematology/Oncology doctor who works with the VAC team to treat BRBNS patients about the medication options.  He said the advances they have made in the past 2 years have been dramatic.  They are currently seeing great results using the drug Sirolimus (or Rapamycin), which is most commonly used for transplant patients for anti-rejection.  It is eradicating GI bleeding in many patients, which is why they hope to not need to do the intestinal surgery much anymore.  What they do not know is what happens when they take you off this medication.  They have one patient who has been off it for a month, so they are hoping to figure this out.  They recommend staying on it for 2 years, but are unsure if the risks are worth staying on it longer than that.  It is immunosuppresive and has several other side effects, though they are minimizing those by frequent checking of drug levels, and adjustment of dosage. If Jacob requires this therapy, they would work with our Hem/Oc doctor here in Chattanooga to administer and monitor as necessary for the duration of his treatment. One thing they do not know yet, is if this drug has any effect on "mother lesions."  So far they are only using it for patients with persistent, untreatable GI bleeding.  As they learn more they would like to expand the scope of treatment to other patients to see if it would help these large difficult to manage lesions. They are firm though in their approach when deciding whether to use this medication in that their treatment side effects should not be worse than the presenting problem. Currently, Jacob is doing well, healthy, and pain free (other than his recent procedures).  Thus any side effects would be worse than what he is currently experiencing from his condition, so he would not warrant treatment. We are relieved, as that is how we were leaning going into it.  It's good to know we are on the right track in our approach to his condition.  It is also exciting the prospect of medication therapy if he needs it in the future.  The doctor was so knowledgeable and easy to talk to, and he said if at any time we question how Jacob is doing and whether he would benefit from this, to call him, and we would discuss it.  So for the time being, we will keep this option in our back pocket and hope for further advances in this area.  
• We met with the primary surgeon who is the leading expert in the world on this condition (who also performed the lesion removal aspect of Jacob's surgery).  He is still actively with his team researching this condition and its complexity.  We consented to assist in this endeavor, which was easy considering our investment and potential to benefit from this.  We consented for him to take the lesion he removed, 12mls of Jacob's blood, urine sample, and swab of his cheek cells for research.  They have isolated the specific gene mutation that causes BRBNS.  Essentially, this gene controls the development of the blood vessels. This mutation causes a defect in the vessel walls.  The walls of the vessels are supposed to act like rivers, keeping the blood contained within the "river banks." In BRBNS, these walls are weak, allowing at any given time, for a vessel, or river, to weaken and expand, becoming a "lake." There, is will just continue to expand with nothing holding it in, and fill with more blood. These "lakes" are what we see as lesions, expanded blood vessels full of blood. Thankfully, the walls will continue to expand and hold the blood in, except in the GI lesions.  They don't know why these don't hold, and instead break and bleed, possibly because of the constant motility of the GI tract, and food moving through?  Other than those though, the lesions will fill and grow unless disturbed (as in the case of the lesion in Jacob's chest when it bled).  At any rate, in their research, they are trying to create a mouse model, or essentially give BRBNS to a mouse (sorry animal lovers-I want my baby cured), to expand their options for exploring new drug treatments.  It's one thing to guinea pig a child for a new drug therapy, another to try it on an animal.  They are hopeful that if they can create a mouse model, that they will learn a lot about this condition, and if not cure it, at least make living with it much easier. Also, improved drug therapy would decrease the surgical requirement of BRBNS patients, which is huge.  Anything to reduce harm and pain to my child's body I am all for!  It is amazing to me that with their registry of only 60 patients with this condition worldwide, that they are so motivated to finding answers.  I am grateful for the brilliant minds at Harvard University Medical of which our Boston Children's Hospital doctors are a part, and sincerely hope Jacob's contribution helps them find a cure. 

So overall, we learned a lot about Jacob's condition, and how we will work with the team of doctor's in Boston to keep him healthy.  It was an amazing experience.  I was so impressed by the collaboration between different disciplines that is rarely seen in medicine.  These doctors are so comfortable working together, diagnosing together, consulting with each other, communicating treatment plans,  "sharing" anesthesia, even working with another discipline during a procedure.  This is essential with a multisystem condition such as Jacob has, and it is reassuring that they won't be contradicting each other with his treatment plans.  I am also thankful for their desire to work with our doctors here in Chattanooga to ensure continuity of Jacob's care.  We have a great Children's Hospital here and I am thankful for wonderful specialists that are motivated to learn more about BRBNS and give Jacob great care here at home.

The most reassuring thing we experienced in Boston was the comfort with which they approach treatment of BRBNS. They understand this disease and are confident in treating it.  It is such a scary place to be when no one knows your child's condition.  Most of the doctors we have encountered up til now (with the exception of our diagnosing physicians) had never heard of it.  And to suddenly be where doctors specialize in the rarest conditions, and thus they become more commonplace, is such a relief.  They were quick to tell us that by far BRBNS is the rarest condition they encounter, but still their knowledge makes it easy to entrust our child to their care.  Their solidarity in treatment and ultimate goal of nothing less than a full and happy life for Jacob, and united approach to achieving that gives us confidence, and as I previously stated, most importantly, Hope.  We have hope that with the knowledge and skill they have been given, our son will be well cared for. But may I never forget that Jacob's life rests in the hands of the Great Healer, and in Him I try to place my trust.  "Today's miracle" would keep us from needing the help of these doctors, and would spare my son future health problems.  So while I am thankful we have them, I will continue to pray for today's miracle and hope for that above all else.

Thank you as always for your support and prayers. Here's some final pictures of our last day in Boston, and I will try to keep you updated with how our boy is doing.  Thank you for being part of our journey.