Friday, March 23, 2012

Happy and Healthy Boy???

I know that this whole cancer thing has not really hit us yet in every way possible.  How? Well because we are two weeks out after his first surgery/chemo session and he is back to himself, one happy little boy.  Before his delivery when faced with the complications with his premature birth we asked the neonatologist, "Does he have the possibility of growing up to be happy and healthy?" The answer was yes and so we immediately found strength within ourselves to love and support this little boy in every way possible.  When he was faced with the ROP laser eye surgery in the NICU we knew he would lose 10-15 % of his peripheral vision in both eyes, but again we asked the opthomolagist, "Does he have the possibility of growing up to be happy and healthy?" Yes, and so we geared ourselves up and prepared for surgery.  And with the latest cancer diagnosis, we asked the oncologist the same thing, "Does he have the possibility of growing up to be happy and healthy?" We know that this might be our toughest battle, but again Michael and I are preparing for the long, crazy, ridiculous, draining journey ahead of having your baby fight cancer, because he still has the potential to be happy and healthy.  And when I said his latest diagnosis hasn't really hit us yet, it is because of the simple fact that he is STILL so happy!  He is taking medication for nausea, but other than that, he is playing like crazy around the house, making messes, smiling, laughing, imitating sounds, watching Elmo and Cookie Monster, and splashing in the tub.  If you came over the house and saw him, you would have no idea that he is sick.  He still has hair (which should start falling out soon) and he is still such a character.  And so we carry on like nothing has changed, while feeling the love and support from each of you.  We KNOW it is going to get worse, we know his hair will fall out, and he might get so sick it will hurt our hearts, but for now, we live each day in blissful ignorance of the time ahead.
Love, Katie

 The awesome sign made by his cousins Emily and Sarah.
 Going fishing.....
 Actually it's a matching memory game that Mike and I play while giving him a bath.
 Sweet smile :)
 Spring cleaning?
Getting some fresh air while Daddy uses the grill!

Tuesday, March 20, 2012

Part Three

After a long day last Wednesday, we somehow managed to have an even longer day on Thursday.  Edward started with another EUA (exam under anesthesia) at Wills Eye early that morning.  He is such a tough little boy, but he always wakes up pretty cranky from anesthesia (understandably so).  The exam part of the EUA only takes 20-30 minutes, but the whole process is a several hour ordeal.   Similar to his prior exams, this EUA confirmed the Group B tumor in his right eye and a Group C tumor in his left eye.  Unlike his prior exams, he actually received some local cryotherapy to the blood vessels supplying his retina during this EUA.  Anatomically, there are a few places in the body that are considered 'sterile' and are separated from the rest of body with a special layer of cells connected with 'tight junctions'.  The most well known of these spaces in the brain which is surrounded by the blood-brain barrier which, for example, helps protect against meningitis.  Similarly, the blood-retinal barrier exists and helps keep infections out of the eye as orbital infections can quickly lead to vision loss and are considered ocular emergencies.  Anyway, the cryotherapy that Edward received temporarily disrupted this blood-retinal barrier and actually allows the chemotherapy to penetrate into the eye more effectively and in higher concentrations (at least in animal models - poor rabbits). 

Thus, immediately following our appointment at Wills, we crossed the Schuylkill (obviously pronounced /sku-kel/) River in downtown Philly to reach the Children's Hospital of Philadelphia (CHOP), one of the best pediatric hospitals in the country.  There, we met a new pediatric oncologist who is also considered one of the experts in the field of retinoblastoma.  We again discussed his diagnosis, its implications and treatment options.  After hearing all of the risks and benefits of the proposed chemotherapy regimen of vincristine, etoposide and carboplatin, Katie and I quickly found ourselves signing consent to deliver these agents.  These drugs are given over 2 day period roughly every 4 weeks for a minimum of 6 cycles: the first day consists of all three drugs and the second day is only a 1 hour infusion of the etoposide.

After a quick tour of the facilities, we were brought to the Day Hospital - a place where children can receive their chemo infusions as outpatients instead of inpatients.  He still had his IV from the EUA at Wills earlier that day and he was first pre-medicated with dexamethasone and zofran - two agents that can help with chemo-associated nausea.  Then came a quick infusion of vincristine over 20 minutes or so, which was followed by an hour long infusion of the etoposide.  At this point in the day (around 6pm), Edward was essentially beside himself.   He had undergone so much that day already - an early morning commute to Wills Eye with no morning bottle, the EUA, cryotherapy, anesthesia, oncology appointment, IVs and now chemo.  The actual infusion of the chemotherapy is not that bad, but keeping a 1 year old happy and calm while tethered to an IV pole for a few hours is pretty tough.  Regardless, we were close to the end, with only 1 hour of carboplatin left.  The infusion ended a little after 7pm and we figured we could be home by 8:30pm or so for a well deserved warm bottle for Edward and a couple cold bottles for Katie and me.

CHOP is planning to manage his chemotherapy without a central line and instead use peripheral IVs.  The central line prevents repeated needle sticks, but is a significant nidus of infection, especially as one's immune system is depleted by the chemo.  Thus, we were trying to 'save' Edward's peripheral IV that night to use the following morning for one more infusion of etoposide the next day.  The nurses were showing me how to flush the IV with heparin and saline the next morning to maintain its patency while Katie was packing up our bags, when Edward decided that he had had enough.  He started to cry and fuss, pulling his foot away from the flushing of the IV.  He then let out a ear-splitting wail, but then went eerily silent - the dreaded breathhold!  Tears were still streaming down his cheeks and his facial expression was locked into one of complete agony, but there were no audible cries and more importantly, there was no breathing.  The nurses started coaxing Edward, a hint of urgency in their voice and Katie started blowing in his face, a well-known trick to abort the breathhold.  But Edward would not relent.  He started to turn a little dusky around the mouth at this point, so I scooped him up, firmly rubbing the center of his chest and now screaming his name.  Still nothing.  His color was now a dark shade of purple and he actually went completely limp.  The nurses screamed for assistance and fortunately, an attending physician was literally a few feet from our door and was bedside immediately.  I laid Edward down on the hospital bed and still nothing - purple seemed to be fading into gray.  The attending physican calmly, yet purposefully began her assessement, immediately performing a chin thrust to open up his airway while the accompanying nurses instinctively set-up 'blow-by' oxygen to supplement his oxygen intake.  I looked at Katie who was a different shade of gray herself with tears filling both her eyes - could this really be happening both of us were thinking? 

By the grace of God, with the simple chin thrust, Edward finally took a breath and his colored instantaneously improved.  His hands were up by his face, locked in fists.  Despite his breathing, he was still not moving.  The nurses and doctors hooked him up to multiple monitors, checking his heart rate, blood pressure and oxygen levels.  Finally, after what seemed like hours, but was likely on the order of 2-3 minutes, Edward began to stir and even opened his eyes.  He let out a defeated whimper that still breaks my heart when I think about it.  But he seemed to be 'back' - Katie and I finally took our own deep breaths and the weight of the world seemed to move slightly off our shoulders.  The doctor began explaining everything to us and told us that clearly we needed to be admitted for observation that night.  They tried to directly admit us to the hospital, but there were no beds immediately available.  So instead, we were re-rerouted to the Emergency Department.  Four long hours later, we eventually arrived in our room, exhausted and hungry, but happy to have our sweet little boy with us and seemingly OK.   

This post is already entirely too long and fortunately, the rest of our night was uneventful.  Edward was able to receive his second infusion of etoposide without any difficulty and we were finally discharged home late Friday afternoon.  We spent the weekend with Katie's immediate and extended family who spoiled all three of us rotten.  It was a long, but successful week - I just hope to never go through all of that again. 

Monday, March 12, 2012

What a Week - Part Two


We started late Wednesday morning at the Wills Eye Institute in downtown Philadelphia - a world renowned ophthalmic center, to meet Dr. Carol Shields, an expert in treating retinoblastoma (rb).  It was a five-hour appointment that included dilated eye exams for all three of us, an eye ultrasound for Edward, and lots of paperwork.  Rarely, parents of children with rb could have been affected by rb as a child themselves without knowing it.  For reasons that are still unknown, their body was able to contain the tumor, which led to spontaneous regression, leaving a characteristic scar. Thus, a dilated eye exam of each parent becomes important to determine if that scar of regressed rb is present. Fortunately, neither Katie nor I had an evidence of this.  Edward's dilated eye exam confirmed what we already knew - bilateral tumors, left greater than right.  I have to admit seeing him go through an eye exam is a little challenging as a parent.  They have to wrap him up in a blanket and then use little metal instruments to pry his eyelids open to complete the exam.  Of course, he fights every second of this and is a wailing, hot mess by the end.

The ophthalmogist staged his tumors during this exam.  The tumor in his right eye is relatively small - approximately 4 mm and is located away from the macula + optic disc, which is great news.  This means his central vision is thus far preserved in this eye and classifies the tumor in the right eye as a Group B tumor.  The tumor in his left eye is much bigger and completely covers the macula and partially obscures the optic disc.  Because of this, his central vision in his left eye will always be compromised to some degree.  Hopefully with treatment, we might be able to preserve and perhaps even restore partial vision to this eye.  The ophthalmologist also saw some evidence of subretinal seeding (small deposits of tumor below the retina) in the left eye.  This is not a huge problem, but it does 'upgrade' his staging in this eye to a Group C.

The grouping of the tumors is important prognostically.  The ophthalmologist is confident that with treatment we can preserve the vision in his right eye and he may even have 20/20 vision in that eye.  However, not all tumors respond to treatment as they should.  If his tumors do not respond favorably to chemotherapy and local therapy, enucleation of the eye is the likely next step.  As our oncologist told us, the goal is to save his life and that might mean having to lose an eye.  Fortunately, the odds of saving his right eye and the vision along with it is approximately 95%.  Since his left eye is a group C, the odds are lower, but still excellent: 90%.  Due to the rules of statistics, the odds of saving both eyes are even lower:  95% x 90% = 85.5% - but are overwhelmingly in our favor.

Admittedly, this has been a tough week and our days are marked with periods of sadness and anger at the situation.  But we are encouraged by the above percentages, and are even more uplifted by all the thoughts and prayers from all of our family and friends.  The outpouring of support when Edward was born almost 14 months ago was unbelievable and to have even more love and prayers for our little man and for us from all of you means the world to Katie and me.  We could not do it without each of you.  From the bottom of our hearts - Thank You!

Saturday, March 10, 2012

What a week - Part One

Well, Katie, Edward and I have completed a 120-hour whirlwind tour of various medical facilities, starting in Charlottesville and ending in Philadelphia.  Let's review.

Our first day was relatively straightforward.  We saw our pediatrician to discuss our recent diagnosis, its implications and the steps moving forward.   He also had to get his Synagis shot (a monoclonal antibody against respiratory syncytial virus - RSV - which is given to most preemies).  Due to his excellent weight gain over the past few months, he unfortunately now requires two needles to complete this weight-based shot.  In other words, he hates this with a passion. 

We started Tuesday with a visit to the Audiology Department.  Part of the chemo regimen that Edward will be prescribed can cause ototoxicity, or hearing loss.  Luckily, his hearing is perfect and in fact, we think he has the mouse ears of Uncle Danny, his godfather!  We then made our way to the Pediatric Oncology Department at UVA and had a wonderful appointment with our new pediatric oncologist.  The only downside to this appointment was that it was over 3 hours long!  Edward was essentially beside himself by the end of the day.  Since he has learned to crawl, the only thing he wants to do is crawl, crawl, crawl and not be held by his parents.

We discussed his diagnosis at length and his likely treatment regimen.  Retinoblastoma (also called rb for short) is one of the more 'common' of the 'rare' pediatric cancers.  Because of this, there is a fairly standard treatment regimen.  The basic tenet of treatment is to use a combination of systemic chemotherapy delivered by a medical oncologist and local therapy (laser therapy, thermotherapy, cryotherapy, etc) delivered by an ocular oncologist (an ophthalmologist).  The systemic chemotherapy is used to shrink the size of the tumors to the point that they are amenable to the local therapy.  Edward's tumors are currently so big that if they delivered only local therapy to the whole tumor, it would damage a large part of his retina and lead to vision loss. 

The chemo regimen that we discussed consists of approximately 6-8 cycles of three drugs:  carboplatin, vincristine and etoposide given every 3-4 weeks.  I'll discuss the details of the chemo in a future post.  Each round of chemo will be preceded by an eye exam under anesthesia (also called an EUA) to monitor the regression of the tumors and to potentially deliver local therapy if applicable.   In between each cycle, he will need to have weekly blood draws to monitor his complete blood count (CBC) - which measures his white blood cells, red blood cells and platelets.  The point of chemotherapy is to target rapidly dividing cells within the body and eliminate them through a variety of mechanisms.  In very oversimplified terms, cancer occurs when a certain part of the body starts to rapidly divide and grow without restriction leading to tumor formation.  For example, in Edward's case, he most likely has a defective part of his chromosome 13.  The part that is defective typically controls or regulates the overproliferation of certain cells in the body, mostly in the eye.  Thus, due to this defect, a small portion of his retinal cells are growing abnormally without restriction = tumor growth.  Fortunately, tumor cells grow much faster than almost all other cells in the body, allowing chemotherapy to selectively target abnormal cell growth and 'ignore' normal cell growth.  The rub is that the bone marrow naturally rapidly divides and produces new cells constantly.  Thus, a side effect of chemotherapy is to 'deplete' one's bone marrow.  In other words, Edwards ability to produce white blood cells (which help fight infections), red blood cells (which deliver oxygen to tissues) and platelets (which help your blood clot) will be inhibited.  Monitoring of these counts will be very important as he might need transfusions along the way or other medications to help boost his cell lines.  Enough technical detail for now.  Following our oncology appointment on Tuesday afternoon, we got word from one of Katie's family friend's that we were able to get an appointment at the Wills Eye Institute on Wednesday morning.  We quickly packed up, started driving and arrived in Philadelphia late Tuesday evening.

Whew.  I will cover Wednesday, Thursday and Friday in the next post...

Wednesday, March 7, 2012

Philadelphia Bound

Katie and I have woken up each of the past few mornings with the faintest sense of hope that this has all been a dream - a terrible, terrible dream.  Unfortunately, reality sets in pretty quickly and we move forward with our day.  The good news is that we have an excellent team of doctors working hard on Edward's care.  The new people in our life include an ocular oncologist (an eye-doctor who specializes in eye cancer) and a pediatric-oncologist.  The bad news is that retinoblastoma is relatively rare - only ~250-300 cases in the US each year (lucky us, I know).  Thus, at an institution like UVA, they only see 1-2 cases a year, if that.  There are a few institutions around the country that specialize in retinoblastoma and see on the order of 30-50 cases each year.  One of these centers, Wills Eye Institute, happens to be located in Philadelphia, where Katie grew up and her parents and extended family continue to live.  After meeting with our local ocular oncologist and pediatric-oncologist, we have decided to seek a second opinion at Wills Eye and are currently in Philadelphia to that end.   The ocular oncologist that we are scheduled to see is an expert in the field of retinoblastoma and has actually written over 700 (!) papers on the subject.  For those not in the medical field, that is an unimaginable number of papers.  She also is a mother of 7 children and went to Notre Dame (go irish).  We definitely feel that we are in good hands and are anxiously awaiting her evaluation.  We will let you all know how it goes.

Friday, March 2, 2012

R is for.....Retinoblastoma?

Yes.   We both read those 14 letters above correctly.  In a cruel twist of fate, Edward was diagnosed with bilateral retinoblastoma, a rare pediatric eye cancer, yesterday morning.  To be honest and as evidenced by our previous posts, things had actually been going fairly well for us.  Edward was growing and developing quite well - crawling, cruising, sitting, standing and almost walking.  He even had his first swimming lesson earlier this week.  Yesterday morning, we had a regularly scheduled visit with our ophthalmologist due to his retinopathy of prematurity (ROP) for which he had to have laser surgery.  All of his previous eye exams since the surgery had only brought good news.  But yesterday morning, the ophthalmologist, typically gregarious and affable, became strangely silent during his exam of Edward's eyes.  Katie initially chalked it up to the early morning appointment time.  But then he said he needed his partner to have a look and stepped out abruptly.  His partner (or more accurately, his father, who started the practice) examined Edward's eyes with the same reticence.  They asked for a moment to discuss things at which point, Katie was about to fall out of her chair with worry.  Our ophthalmogist returned in a couple minutes with tears in his eyes and the word no parent, brother, sister, son or daughter ever wants to hear: cancer.

Our world, which has been built up brick by pain-staking brick ever-so-slowly over the past 13 months, came crashing down all around us again.  We will provide further details in subsequent posts, but the basic gist is as follows:  Retinoblastoma is a malignant tumor of the retina, a thin layer of cells in the back of the eye that 'receives' what we see through our eye and collects/transmits this information to the brain via the optic nerve.  Due to a genetic mutation that can be inherited or spontaneous, the cells of the retina are allowed to proliferate abnormally leading to tumor growth.  There are various different forms and stages, but Edward unfortunately has bilateral disease (affecting both left and right eyes). 

Following that bombshell of a diagnosis, Katie and Edward were whisked away to the main hospital at UVA where I met them.  We were immediately added into the ocular oncologist's clinic and had an eye ultrasound revealing tumors in both eyes.  Getting a 1-year-old to cooperate with an eye ultrasound is quite a task, I might add.  Following the ultrasound, the ocular oncologist and his team set up an emergent 'exam under anesthesia' and a brain MRI to determine the extent of the tumor.  The exam under anesthesia (EUA) is essentially a full ophthalmologic exam with Edward sedated.  Similar to the ultrasound, eye exams in 1-year-olds are challenging at best.  With anesthesia, they are able to perform a comprehensive exam without difficulty.  Fortunately, the exam showed that the tumor in the right eye was quite small and far away from the optic disc and macula (the business portion of one's sight).  The left tumor on the other hand is somewhat large and does overly the optic disc (which can allow it to extend into the optic nerve and into the brain).   Following the EUA, Edward was maintained under anesthesia and brought to the MRI scanner to image his brain to identify any intracranial metastases.  Fortunately, there is no evidence of extension into the optic nerve or brain, which obviously is excellent news.  All of this was completed by late yesterday evening, at which time a couple of exhausted and delirious parents were able to hold their sweet (though a little cranky from the anesthesia) baby again like it was the first time they have ever held him.

Our road again is long and we cannot believe our luck (or lack thereof).  Regardless, Katie, Edward and I thank you in advance for your thoughts and prayers - which we now seem to need more than ever.  I was hopeful that we could relegate this blog to mundane updates of our growing child, but it seems that life had other plans.

The next step is to meet with our pediatric oncologist early next week and then likely start chemotherapy a few days after that.   Here we go.....