Jacob's Story, Part 3

September came, and we went to the dermatologist.  She looked at the markings, and asked if he had anything else. I said, besides the large vascular malformation in his chest he was born with?  She asked a million questions about it and I explained his medical history and all that had gone on with the lesion. She was perplexed by it all, but said she needed to do some research and call me back. She did a few hours later, and said she wasn't sure because she had never seen it, but thought he might have an extremely rare condition called Blue Rubber Bleb Nevus Syndrome (BRBNS).  All she told us was that it was rare, caused vascular malformation overgrowths especially in the GI tract, and made a referral to GI.  The GI office called me immediately that afternoon and asked me to bring him in at 9:30 the next morning.  This made me nervous, as normally referrals take much longer to be seen.  We went in the next morning, and met with our Peds GI specialist.  Though he had never seen this syndrome before either, upon physical examination and history, he was 98% sure that Jacob had BRBNS.  His partners had never seen it either, and peeked in on us as well to see this rarely occurring syndrome.  Our doctor said that the only place that has seen enough patients with this to have done a study, and have a protocol for treatment was the Vascular team at Harvard and Boston Children's Hospital.  He felt that due to their expertise as well as the rarity and complexity of this condition and difficulty in treating, that we should reach out to the doctors in Boston at the Vascular Anomalies Center. Knowing little about this disorder, and desperate for information, we agreed. He then reached out to a contact in the GI office up there, who requested us to send Jacob's medical records, imaging studies, as well as pictures of all his skin lesions. They were going to have a conference with all the doctors in the Vascular Anomalies Center and review his case and all the clinical information and form their opinion and recommendations.  We submitted all they asked, and his case was reviewed at their next meeting 1 week away.  As we began to research BRBNS we realized how this was much more serious than just a skin condition with GI involvement.  We were terrified and hoping this was a misdiagnosis.  The weeks we waited for our case review and to hear their findings were the longest of my life.  I fell into a depression as I learned more about the condition and realized the limited treatment options, scope of the disease, and lack of cure.  As a nurse, I simply wanted to know what treatment we do, medicine he can take to get rid of this and go on with our lives.  As I realized there was nothing to do to prevent the progression of this disease, and all treatments are aimed at alleviating the symptoms.  Our worst fears were realized, that after 3 weeks of waiting, Boston replied back.  They confirmed the diagnosis of BRBNS and agreed to take Jacob on as a patient.