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. 

Jacob's Story, Part 2

A little over a month after Jacob's yearly MRI to follow the vascular lesion in his chest and back, we vacationed over fall break in the mountains with my in-laws.  In the middle of the night one night he woke up screaming.  It was clear to us he was in pain, but we had no idea why. The lesion on his back was protruding more than usual but we weren't sure if it was just because he was crying or if it really was bigger. By the time we got home we knew something was wrong and took him to the ER at our local children's hospital.  It was even larger, and he was clearly in pain constantly.

They called his Interventional Radiologist (basically a vascular doctor) who said the lesion is likely shrinking. He said normally this process happens slowly over time, but in a small percent of cases it clots and involutes very quickly and is a very painful process that we would have to wait out. The next 2 weeks were awful. Jacob was in constant pain, despite pain medicine around the clock.  The nights were the worst, as if he laid flat it would fill with blood and wake him because of the pain. I spent most nights sitting up in the rocking chair in the nursery holding him while he slept fitfully and cried at intervals.  By the end of the 2nd week, I was very worried. He was starting to walk crooked, leaning to the side of the lesion, and his head was tilting that way also. I called our IR and he said it could be now involving nerves and we needed to get an MRI now. That day (Friday afternoon) he had another MRI. It showed rapid growth of the lesion, extending to wrap around his spine and growing between the vertebrae in the nerve tracts.  It also showed poor expansion of the lung on that side and consolidation at the lung base (which we later discovered was blood).  It needed treatment, which involved injecting a sclerosing agent (toxin) into the lesion to cause the vessels to shrink. He said a very small number of such lesions requires this treatment, especially at his age.  But his lesion was atypical anyhow, so we needed to proceed with treatment.  The medication was not on hand, so we scheduled the procedure for Monday morning.  By Monday, he looked awful.  We did the sclerotherapy procedure (under anesthesia of course), and went to recovery.  The procedure itself went well, and the doctor was confident, now that we "told" his body that this lesion was foreign and unnecessary, it would finally go away.  In recovery, he slept most of the day.  They kept us all day to watch him, and I felt progressively uncomfortable with how he looked. He had been extremely pale for a week and it felt like his heart was racing, but we attributed it to the pain he was in.  Now that I saw him monitored, to see his heart rate so high (greater than 150) even when sleeping was a red flag for me.  I mentioned it several times, but all agreed it was pain.  He also turned blue and dropped his oxygen saturation to the 60's anytime he cried.  I was very frustrated with our nurse in recovery who simply thought it was all just from strain on his lung from the lesion, and residual pain.  Exasperated, and being told he was clear to go home, I left with him at 5pm, long after all other patients had left.  In retrospect, there are so many things I would have done differently, and I vow to never fail to advocate for my baby if things seem so off.  We went home, and that night and the next day were much like the previous week. Horrible pain, and a puny little boy.  The following night (Tuesday) was awful. He was ghostly pale and could scarcely lift his head. I knew something was wrong, and was sitting with him on our pediatrician's doorstep Wednesday morning when it opened. He sent us to the hospital for a chest x-ray.  My friend who works in radiology came out and got me after they shot the film and said, don't go anywhere, the radiologist is on the phone with your pediatrician now. Jacob had a huge pleural effusion (collection of fluid in the chest which compresses the lung).  We were sent immediately upstairs to the ER.  They drew blood, which revealed Jacob was severely anemic.

His hemoglobin was 6 and his hematocrit was 18.  All were pretty sure at this point that the fluid in his lung on the x-ray was in fact, blood.  He was sent to PICU to be given a blood transfusion and have his lung drained.

 They started his blood transfusion and then sent him back to the Vascular Lab with our IR to look at his chest.  There, they put a needle in his chest and drained 10 ounces (300mls) of blood out of his chest.  He was brought back up in stable condition and finished transfusing a full adult unit of blood to replace all that he lost. 

We talked with the doctors in PICU and our IR, and all were perplexed by all that transpired.  Looking back, it was decided that the "consolidation" on his MRI was likely blood and that the lesion in his chest had probably been bleeding for a while.  It was a mystery to all why that would happen, as such lesions rarely bleed or cause such harm. It was a freak thing they had no explanation for, but agreed he should be fine from here on out.  After the blood transfusion, he looked much better, and began to feel a little better each day.

We left PICU on day 4, and after a week, he was his old self again.  The lesion on his back was shrinking, so we expected it was inside his chest as well.  Our doctor scheduled a follow up MRI in January to see how it responded to treatment. January rolled around with Jacob doing great, and being a normal 18 month old.  The follow up MRI showed a drastic reduction of the lesion in his chest, being only about 3cms down from about 14cm previously.  Our IR assured us that since the lesion has started the process of involuting, they never regrow. It will simply continue o shrink until gone. We were thrilled and they set a MRI date for a year from then to assure it was gone.  On we went with life, not thinking about the lesion at all. Jacob turned 2, became a big brother, and we adjusted to being a family of 6. Jake is the pistol of the group, and though not jealous of Luke, does test us with his fiery personality.  But his health was great.  Intermittently, David would mention that he felt that the lesion on Jacob's back was starting to get bigger. I refused to even acknowledge the possibility, as it went against all we were told. I did mention to our pediatrician at his 2 year checkup several skin markings that he had.  He has had about 5 small bluish spots scattered on his body that he's had since birth.  At birth, they were very small, like a pinpoint, or petechiae for my medical friends.  We figured they were birthmarks.  As he has grown though, so have they. They now feel nodular, like a ball under his skin, except for one, which resembled a strange looking bluish hemangioma.  Here are a couple of them (on side of finger, thumb, and heel):

Our pediatrician wasn't sure what to make of them and referred us to a dermatologist.  Our appointment was set for September 15th. I wasn't too worried about it, as how bad could a few birthmarks be?

Jacob's Story, Part 1

Jacob was born in July, 2011 after a difficult pregnancy in which I had Cholestasis of Pregnancy, a condition in which one's liver doesn't work as it should, resulting in a build up of bile acids and salts in your body, which can cross to the baby causing stillbirth.  It made me feel sick and nauseated all the time, my skin itched like crazy, I was extremely tired, and just generally felt awful the whole time.  After two pregnancies in which I felt great and loved being pregnant, this was a stark contrast.  A dear friend captured these pictures, which is how I prefer to remember my pregnancy with Jake...

Because of the threat to the baby, I was going to the doctor and having him monitored twice a week, as well as doing kick counts and listening to his heartbeat with a Doppler at home.  He finally did not look well at my 36 week check, and as a result, delivery was induced.  In true "white male" fashion (as my NICU friends will appreciate), he had difficulty breathing at birth and was taken to the NICU for care.

He did the usual 36 weeker routine, requiring CPAP for 4 days, and a nasal cannula for an additional 3, with a side of gavage feedings and phototherapy. 

Nothing extraordinary.  However, on day 4, his nurse noticed a lump on his back.  He was very swollen, so at first we thought it was just dependent edema, from fluid retention.  However, we soon noticed, that when he would cry, it would get bigger.  His doctor ordered an ultrasound to evaluate the "mass."  Ultrasound evaluation revealed it was a vascular malformation, but that it extended from his back with "fingers" that went through the back of his ribcage into his chest. They couldn't tell much by ultrasound about the extent of the mass in his chest, so an MRI was ordered.  So on day 5, my baby boy was put under anesthesia for his first MRI.  We were shocked by what it revealed.  The vascular lesion on his back was about 1/3 the size of what was in his chest. It was a very large vascular malformation, not exactly an AV malformation, not entirely venous, and not an internal hemangioma; but having characteristics of all three. It was an unusual finding, but didn't appear to be interfering with anything or hurting him in any way. All expected it to act like a venous malformation or hemangioma, which meant it would generally not cause any harm and shrink and go away by the time he turned 5.  So we proceeded to take our sweet baby home by day 8 and all was normal and great.

And it continued to be great.  He was a good baby.  Pleasant, happy, and adoring of his big brother and sister.  He grew...

Played...

Loved...

And how I love him...

And life was good.  In September, 2012 he had a follow up MRI to track the Vascular Malformation to see how it was.  Results were good. No problems, it had simply grown with him but was essentially unchanged. The doctors said see you in a year...hopefully by then it will have started shrinking. So we went on, ignoring it.

Jacob

So the big reason I started this blog, as we have found ourselves on a difficult path with our Jacob.  First, I'll tell you a little bit about Jake.  Jacob Rhys is our 3rd child, and has been our challenge from the start! He was my most difficult pregnancy, and delivery...and was a sick newborn (more on that later).  But after that, a good, pleasant baby.  He is now two and a half, and still our biggest challenge.  He is so much fun, happy, adventurous, and funny...

He is also stubborn, strong willed, mischievous, and high energy!  He brings laughter and joy to each day, but also has brought frustration and exhaustion to us as parents.  We were blessed with our first two being very quiet, easy going children, and we thought we had this toddler parenting thing figured out.  Jake has burst that bubble with his explosion of constant activity and strong will! I truly am thankful for the more difficult aspects of his personality now that we know that it is probable that many physical difficulties lie ahead for our boy.  I pray his strength of will and personality will keep him from being broken by any physical toll taken on him.  I think he is aptly named.  A dear family member shared with me recently..."I thought of how you named him and the legacy of his 'predecessor' having fought all night with an angel, until he got his blessing and his strength for his journey.  Tenacity and stubbornness combined with faith have fought many battles over time, and this one will be no exception."  May it be so, baby boy.

Us

I am starting this blog to keep our family and friends updated on our growing family.  I'm not much of a writer, but love these we've been blessed with and want to share our journey with those who are interested. I am a nurse in a neonatal intensive care unit for the past 10 years. I love my job and it's all I've ever wanted to do. I am fortunate to witness and be a part of lives that begin like this...

I am married to my high school sweetheart, love of my life.   Many of you remember us like this...

We've been married for almost 11 years now...

We were crazy happy together, and then were given this...

 

 And then this...

And then another (more on him later)...

And finally, this one...

Now our family is complete, and we have never been happier. 


Welcome to our crazy life!  Thanks for being a part of our journey!