Monday, February 27, 2017

We made it!

After a rough weekend that put this whole trip in question, we made it to Boston!  Most of you know, but Friday Jacob came down with the flu.  After an appointment with our PCP in Chattanooga on Saturday morning, he counseled us to reach out to Boston and make sure they still wanted us to come.  Saturday was a long day in which we went back and forth with our physician team and the anesthesia team.  Our physicians wanted to move forward with the procedures, due to the potential risks of delaying this much needed procedure further, and understandably, the anesthesia team would rather wait for Jacob to fully recover from the flu.  The anesthesiologist was awesome, and actually contacted our physicians and considered all of the potential issues with postponing the procedures before ever calling me.  I felt great about this, as I did not want to plead our case or sway them in any way.  I would never want to pursue anything that would put Jacob at risk for convenience or to avoid emotional upheaval for me.  I wanted them to objectively look at this decision from all angles and make the best one for Jake, which is what they did.  Both the anesthesiologist and our physician called us at 9pm on Saturday night and told us that they wanted us to still come, with the understanding that the procedures will happen only if anesthesia feels comfortable when they look at him on Tuesday in preop.  If we were willing to come knowing that, which of course we were.  I told them that we respected their decision either way, trusting that they are truly making the decision they feel is in Jacob's best interests.  So after a long day in limbo on Saturday, we set out Sunday morning.

Our flight left Nashville Sunday morning, and Jacob was very excited.  He actually was feeling pretty good, despite the flu, with only a runny nose and a slight cough, but no fever.  He had a great flight, thanks to a couple of friends who decided to spoil him with new books, snacks, toys, and headphones for the flight!  He rested briefly, and stayed entertained the remainder of the nonstop flight.

We got our luggage and subway tickets for the week and made our way to the T (Boston's subway system).  He ended up sleeping in the stroller the entire way on the T to our home for the week, the Yawkey Family Inn.  The Yawkey is a renovated Victorian home built in 1889, that is part of the patient & family housing program for Boston Children's Hospital.  It is about 6 blocks away, an easy walk to the hospital, and where we stayed 2 out of the 3 trips we took in 2014.  It is a wonderful place that takes a great deal of stress off of us and many other families.

We took it pretty easy, being tired from traveling, and also needing to keep Jacob inside and resting as much as possible. We are trying to keep to ourselves more this time, with Jacob having the flu, and thus are avoiding the common areas, with the exception of the kitchen, as we have to use it.  There is no food allowed in the rooms, so all eating has to be done in the kitchen.

So we have been trying to stay away from everyone, and keep him from touching anything, as well as clorox wiping any area he eats or contacts to protect our fellow house mates and their children. We've been fine in our room though, thanks again to all the goodies from our friends, Misty Collins, Jackie, Smith, and his teacher Bobbie Toran.

Sunday night we walked to the grocery to get ourselves some food and necessities for the week, and spent the rest of the evening in our room resting.  Monday we got up and didn't do a whole lot.  We decided a bit of fresh air would do Jacob good since he pretty much was looking and acting completely normal and chomping at the bit to do something.  I figured we wouldn't expose anyone if we kept outside and away from everyone else.  So we decided to head to my favorite place in Boston, the Commons and the Public Garden.  Though there was no snow on the ground currently (unusual for February), the skating rink was still in full swing on the Commons.

Jacob paid a visit to the frog statues, and we continued up the hill, where there is a Civil War monument.  Jacob ran to it, excited, and wanted me to take his picture.  He didn't know what it was but said it looked like history.

We kept walking, enjoying some of my favorite views of the city, and crossed over into the Public Garden.  It looked different, with the pond drained (so really there was a big mud hole in the middle that normally is covered in snow and not such an eyesore).  We still enjoyed it, Jacob especially, who counted the squirrels (47), and loved the duckling statues.

David & I sat on the bench on which Robin Williams and Matt Damon had their iconic conversation in Good Will Hunting.

Jacob got really excited about the statue of George Washington, and said, "I know about George Washington and read a book about him at school!"  He wanted me to take a picture for his teacher. So here you go, Ms. Bobbie!

We crossed over the bridge and headed back to catch the T to our first appointment of the trip, at Boston Children's Hospital.

Our first appointment was with a physician who (in conjunction with the Vascular Anomalies Center), specializes in the treatment of kids with venous and lymphatic anomalies, and associated syndromes.  His primary focus is on the drug treatment for these conditions and ongoing research. We saw him in the VAC clinic back in 2014, but I really wanted to talk to him about all they had learned since then.  I had read about several new advances with all of their ongoing research, and wanted to make sure we were still on the right path with Jacob, and there wasn't anything new that could be of benefit to him.  We spoke at length, and he gave me tons of new information, most of which was very encouraging.  I try to keep track of medical info on here, as a record of sorts for myself, so if you are not interested in the medical talk, skip on past this...

Their emerging successes from the past 10 years has turned into extensive utilization of the drug Sirolimus, which historically is an anti-rejection drug used for transplant patients, for kids with lymphatic and venous malformations, and GI bleeding associated with BRBNS.  My question was whether or not they had seen improvements in the "mother lesions" of BRBNS patients taking Sirolimus.  He stated that they still were learning about this.  He said that they have found almost universal stoppage of GI bleeds, but continued unpredictability of lesion growth.  BRBNS kids still grow new lesions on the drug, and their mother lesions still grow.  He said some see an improvement in pain symptoms, mostly related to coagulopathy, but Jake thus far doesn't have many issues with pain, and isn't extremely coagulopathic.  So it is unlikely that there would be any real effects there, likely not worth the drug's side effects of immune suppression.  He did say that they are able to minimize side effects by titrating the drug and monitoring levels, and giving the lowest dose that maintains efficacy-which is different for each patient.  He agreed with our feelings that we were not ready to be on the drug, but said that if our sclero begins to become ineffective at controlling lesion growth, or the need for sclero gets closer and closer together, that we probably should revisit it, and it might be worth a try, even in the absence of GI bleeding.  I have felt that 3 years is a great amount of time for Jacob to not need treatment, and thus I didn't feel we were at that point yet, but it is nice to know that the drug possibility is in our back pocket.  I was relieved that he felt we were on the right path, and am excited about all of the new knowledge they will gain as they continue to study this drug and its benefits for BRBNS patients.

One of my other questions, which was also drug related, was that the initial trials of Sirolimus only recommended it for use for 2 years, and I have heard many reports of patients being on it much longer.  He said that they are using it much longer now, and that it is proving safe to do so.  That was also a relief, as if he ever needs it, Jacob could potentially stay on for as long as he needed it, and not have to come off and be right back at square 1.  

He also told me about several very exciting developments with BRBNS.  He said that they had a breakthrough that they published a year ago.  When we came up in 2014, they told us that they had isolated the gene responsible for BRBNS.  He said now they know what is actually faulty on that gene.  They have sent samples (some of which could have been our son's) to geneticists in Brussells, Belgium, who discovered more.  BRBNS is actually 2 genetic mutations occurring simultaneously that result in this condition.  It is the only known syndrome resulting from 2 spontaneously occurring genetic mutations.  The odds are even more astronomical than they originally thought.   He said they also have tracked these mutations to see what exactly they affected, and found that they change the receptors which are responsible for blood vessel growth and production.  They are currently researching how to switch these receptors off, or alter them to stop the abnormal growth altogether.  I know you may have gone cross-eyed with all this medical jargon, so I'm gonna reiterate that last statement...STOP ABNORMAL GROWTH ALTOGETHER.  That means cure this, people!   I recognize that success in this area, even immediately, would take years until implementation, but it still gives me hope.  My son is 5 years old, has a 1 in a million disease, and people right here in this city are working with people halfway around the world to find a cure, that if found, could come in his lifetime.  This is hope, my friends.  Not just hope for life, or hope for good quality of life, but hope for a cure.  And before you tell me not to get swept away by that or get my hopes up, I'm gonna quote Andy Dufresne from the one of my favorite movies, The Shawshank Redemption..."Hope is a good thing, maybe the best of things."  I believe that.  I've seen what my days look like when I lose hope, and what they're like when I cling to it.  So I'm going to cling to that hope.

We discussed much more at this appointment, but honestly my mind is such a muddle, I can't remember more.  One thing I had forgotten about this hospital was how important your child is to them, and how important you are as their advocate.  We talked to this physician and his team for over an hour and a half.  He never once looked at his watch, clock, or phone, or indicated in any way that we took too much of his time.  I felt kind of bad at the outset, as we did not need treatment currently, but I made this appointment strictly as an informative one.  He told me in 2014 that if I ever had questions or wanted to discuss this, not to hesitate, and he meant it.  I even apologized that we didn't need anything right now, and he said keeping us informed on the most current treatment options and confirming our plan of care is no less important than anything else.  He asked questions of us, and thanked us about what they can learn from Jake as well.  I was also struck, as I was also in 2014, at their ease and comfort with this condition.  They know so much and are so comfortable with these insanely complicated treatments, that it puts me right at ease.  I get to just be mom.  So I cannot express how good this appointment was for my heart.  I feel confident in the path we have chosen in treating Jacob's condition, and confident in the people in place to help us keep him healthy.

We stopped on the way out and let Jacob see his favorite thing in the hospital, just outside the outpatient elevators.  Its a ball maze of sorts and he thinks its the greatest thing ever.  He was so good in that (long) appointment, so we were happy to see him having fun watching it.

 Tomorrow Jacob has preop testing at 1:30 where the official decision will be made whether or not to proceed with his surgeries on Wednesday.  Please keep us in your thoughts and prayers, that the best decision will be made for him.  We will respect whatever they decide, and though it will be a setback to reschedule, I truly have peace about it either way.  We also meet with our lead physician at 5:00, as he is the one who will be performing the sclerotherapy aspect of the procedures on Wednesday.

Those of you who know me well, know what a struggle this has been for me of late.  I feel affirmed in the decisions we have made so far, whereas before we left, I felt like a failure.  I will continue advocating for the best possible care for my son, and hope that we will continue to be equipped to care for his physical self, but for the person, the man he will become.  A dear friend gave me this, which I wore on the plane ride here.

It reads, "A mother's love is true north, always guiding the way home."  I never imagined taking my baby 1,000 miles and putting him in the hands of strangers for care.  Care that would inflict pain on him, in the hopes of providing continued health.  But I pray that regardless of whether Jacob gets the procedures he needs this trip or not, that my love will be at the heart of every decision and will continue to bring him back home again.  


  1. Rachael, I somewhat understand what you're facing as I've had to face that w/2 of my sons. Cameron had Leukemia & was treated @ St. Jude in Memphis, & it IS hard to have to put your 3 yr old child in the hands of strangers knowing that what they are going to do to him is going to be painful & experimental.......then you have a baby boy that is diagnoses w/a heart problem & has to have heart surgery @ 3 mo. of age. It was so hard to turn Corey over to the nurse to take him back to surgery not knowing if he would survive. I'm saying that to hopefully encourage you that things will turn out ok because God is on His throne as He was w//my 2 sons. I feel Jake will be blessed & God will bless his as He did my boys. He's a special little boy & God has something special for him to do. I am praying for all of you & esp. for Jake. I understand how your feeling in letting Jake go @ these times.
    We love you all & you are all in our prayers.

  2. Hi Rachel, thanks for sharing your story with us. I have just found out that my 5 months old son has the "blue ruber bleb nevus syndrome" is there a way I can contact you to get more info about the treatments? Thanks

  3. Hi Rachel,
    Thank you for sharing your story with us. I just found out that my son who's 5 months old is diagnosed with blue ruber bleb nevus syndrome. Is there a way I can contact you directly to get more information about the treatments. Thanks