Long overdue

So, it's been quite a while- things haven't been excessively busy, but not slow enough to really ake the time to sit and concentrate and sort it all out.

(I just peeked at my last post... June 1?!  Wow.  Okay, a bit of this might be out of order, but here we go anyway.)

So, since the insurance hadn't made it through, CJ's first NY trip meant laser treatments and intravitreal chemo (IVC, injected into his eye) as a temporary measure until the IAC was approved.  Coming back again in three weeks.

Three weeks later, with slightly more time to plan, it was the three of us that went out.  Fly out Monday morning, get situated (the Ronald McDonald House was an expereince I really need to write about on its own), and have another IVC treatment on Tuesday.

So, Tuesday is another exam and discussion of what's going on.  The IVC treatments are less than ideal, but preferred to keep the tumors from spreading and doing mroe damage until the IAC is approved.   Also, CJ's one of the rare fwe where this treatment helps shrink the tumors, so overally it's pretty good news.

...Except for the lack of response from insurance (still).  So, these are band-aid fixes that will happen again in another three weeks if we haven't heard anything by that point.  We spend Wednesday doing the tourist thing (Central Park) and Thursday in the airport, waiting to find out our flight's been cancelled.  After some rigamarole with the airport and getting lodging/etc., we're back home Friday and looking at another three weeks out.

It's now mid-July, and Marie's out on the next trip.  Still "soon" from the insurance but nothing confirmed yet, so it's another trip out Monday, IVC on Tuesday, and heading back Thursday.  Things are still looking well, the main tumor's still responding to the IVC treatments, and may be laserable soon.

And then it happens- the insurance has finally given the go-ahead.  With some rescheduling, everything is set for that same week, and CJ gets his first round.  It's a different kind of experience; more personal, but also requires several hours of post-treatment monitoring and such.

This also means compromised immunity; though his counts don't suffer too badly, he did catch a cold after the first treatment, which wasn't the most fun experience.  (Then again, it's never fun for an infant, I suppose.)

And now we're almost caught up.  Two weeks ago was his most recent IAC.  He's responded well to the first treatment, and took the second in stride (except for slightly lower counts afterwards).  He'll have a third (and likely final, at least for now) treatment in another week, provided his counts are up. 

After that, it'll be back to trips to Rochester, which are definitely more manageable; even with the donations and other support from friends, family, and charities, it's a process we'll be happy to not have to continue going through.

His vision is tested each time he gest treatments in New York, and it looks like there's minimal damage.  IAC also tends to reduce the number of recurrences of tumors, so we're hopefully out of the most dense parts of the woods.  He'll likely continue regular checkups for a while, and may have to repeat this process if things get bad again, but as much as the trips out to NY and the doctors there are really good, thorough, and knowledgeable, we'll be totally fine not seeing them again.

A new adventure

(Sorry for info overload and likely confusion; there's been a flurry of activity the past week or so.)

So... things weren't doing as well as we thought.

A few new tumors popped up (again near the outer part of the eye, so not doing much for long-term damage) and they responded well to treatment.

However, the oldest tumor, which has always been an issue to some extent, is not responding well to treatments.  Before this round of treatment was even started, the process was underway to head to New York, hopefully for intra-arterial chemotherapy.

So, it made for a chaotic week.  Monday was the exam and Tuesday was the first contact with Memorial Sloan Ketterling Cancer Center.  We were told to head there as soon as possible, but had to wait for insurance to approve first... which happened the following day.  Then it was a fight with insurance to cover the trip- in fact, they drug their feet long enough for us to eat the cost instead (and obviously won't reimburse, either).  Throw in submitting papers after closing and a holiday weekend, and we had no idea what was going on until Tuesday morning.

Enough BS with the insraunce coverage meant Marie and her brother bought tickets outright, and were on their way to New York with CJ.  First plane trip with all of them; some turbulence, some icky weather along the way, but overall not bad (and CJ was complimented on how well he handled the flight... no surprise from our happy little socialite.)

Now that CJ's in New York, he's had his first EUA with those doctors and had more laser treatment, with some dye injection to help the tumors eat up the laser more readily.  We've also learned that the tumors are classified Group A (left) and Group B (right), which means that enucleation is off the radar at this point..

Since nothing has gone smoothly so far, the trend continues with the realization the hospital did not file for pre-authorization with the insurance.  As of writing, the hospital is proceeding with the treatment anyway (since it's their fault)... but not certain when since this was decided after regular office hours today.


And so, more will come as the saga continues.

Still doing (relatively) well.

Late post since it's been a pretty busy week overall.

Had yet more tumors pop up, though once again, they're small and away from the optic nerve, so not much in the way of new damage.

One of the older, bigger tumors was growing again, inside the old scarring/trteatment area.  It got another round of treatment, but since the scarring's already happened, there's no new damage.

We've progressed to a once-a-month instead of every-three-weeks schedule; aggression is slowing down a little but will continue at this pace for a few years yet.  Similarly, new (or od) tumors that do not react to treatments may still mean a trip to New York.


New employer means new insurance, which will be interesting.  At least we can't be denied for pre-existing conditions any more... and the coverage offerings are quite nice.

So far, so good.

So, generally good news at today's exam.


The biggest worry was having to fly out to New York for intravascular chemo if the existing tumors did not respond to the second treatment last visit.

Thanksfully, they're responding and shrinking.  The scarring is still damage that can cause problems, but much less than if the tumors expanded and/or didn't respond to treatment.

One new small tumor appeared very recently (was caught very early) and treated; it was small enough that the doctor didn't seem concerned.

CJ part 3: Good and Bad

Good news and bad news from the latest treatment (moved back a week from the thre-week schedule because his pediatric oncologist wasn't available last week).

The good news is that no more tumors have developed yet.  This is expected- they won't crop up at every visit; we'll (almost certainly) see more eventually, but not this time.

The bad news, though, is that the small tumors from the last appointment are growing back.  They're quite small and aren't big enough to "soak up" the laser treatments and be fully corrected.

Silver lining is that these are the same spots that already exist and already have the damage, so there's no new damage or spreading of the existing areas.

If these visit's treatments turn out to be ineffective with the same result as the last treatment, we'll have to head to New York for the direct chemotherapy.  We'll find out in another three weeks.

CJ's exam results

CJ's first follow-up exam under anesthesia was today.

The treatment for the previous tumors was a success; there's no recurrence in the spots that were treated.

However, additional tumors were found- one new tumor near the optic nerve in his right eye, and a few small tumors in the outer margins of his left eye.  They were all small enough to be treated with laser therapy (not specific which type, but it sounds like it was less intensive).

We're also staying overnight again, due to the anesthesia; he was right at the cusp of choice whether to stay or go home, but the anesthesiologist recommended h estay.

He'll have another exam/follow-up in three weeks.

More general info / what we know so far:

• We're not out of the woods.  While we likely won't see more tumors appear at every exam (three weeks apart at the moment), there's a far greater chance of more appearing yet, for several years to come.  The biggest threat is the first few years, but since it's known to be bilateral, will continue to be possible until approximately age 10.
• The possibility of a trip to New York is similarly not out of the realm of possibility.  This route is all based on how the tumors grow and/or if the treatments become ineffective.
• We have a few years to wait to start figuring out vision loss (age 3 or 4).  Tumors near the optic nerve are more likely to cause vision loss, but they can appear anywhere on the retina.  The first tumor will definitely cause problems with vision, but complete loss of vision or the eye is unlikely.
• Exams will continue to be every three weeks until at least age 2, and slow slightly to every 4 to 6 weeks until age 7.  Later exams won't need to be under anesthesia.  MRIs will also be regular, though not with every visit (sounds like six months or so at the moment).

CJ up to now

(For some extra back story (if necessary), go back to Then .)

So, a timeline of how things have gone with CJ (some details may be slightly fuzzy, for obvious reasons):

• CJ is born in early December.  Cord blood is sent for genetic comparison to (my) dad's RB1 gene.  (See back story linked above for more explanation.)
• While still in hospital, initial retinal exam is clear in both eyes.
• Until genetics returns a result, it's treated as CJ is also positive for the defect.  Eye exam is scheduled for Dec 24.
• Dec 17(ish): Call from Genetics informs us that CJ's RB1 gene makeup does not match my father's- he has my mother's/my RB1 gene.
• Dec 24: Exam reveals nothing in the right eye and a small growth in the left eye, close to the optic nerve.  Plans are made to see the pediatric ophthalmologist in Rochester the week of Dec 28 for an exam under anesthesia.
• Week of Dec 28: Exam date is pushed back to have a pediatric oncologist/ophthalmologist available during the exam.
• Jan 4: Exam day.
• We go in knowing of exam under anesthesia and MRI to be done.
• CJ is put under and MRIs are done first.
• We meet with the new doctor, who talks for a few minutes and then goes to do a quick examination.
  Based on the extent of growth and aggression, possible fixes included laser treatment, cryosurgery, flying to New York for intra-arterial chemotherapy, or, if anything spread to the brain or elsewhere, IV chemotherapy
• Exam confirms the tumor near the optic nerve in the left eye, as well as a smaller tumor found in the right eye. 
• Doctor returns with a second specialist, deciding to use laser treatment for both tumors.  MRIs have been evaluated and there are no other growths outside the retinas.
• Due to CJ's age/slightly early birth, he is kept overnight for post-anesthesia evaulation.

Our next exam is in a few weeks; this will determine whether the laser treatments were effective, or if we have to go to New York for the intra-arterial chemotherapy.  There is still a possibility more tumors may appear, so he will be having regular exams under anesthesia every three weeks until at least two years old.  He will very likely not lose either eye; however, the vision in his left eye will definitely be affected.  The doctor did not want to give any specifics at this point since more tumors or other damage may occur, and CJ's vision is still developing at this age.

Then...

So, here's some more back story on what's happened prior to CJ's current adventures.

I was born with bilateral retinoblastoma, a genetic defect in the RG1 gene, which was passed down from my mother.  My right eye was removed and left eye was damaged while very young (all prior to six months).

A few years ago, my girlfriend and I found out she was pregnant- after she had been told for nearly a decade that she was unable, due to a combination of issues.  She was approximately 25 weeks along when we figured this out.

Knowing of the genetic condition, we proceeded to start working with genetics to get testing towards learning if our son would have the condition.

Our son was born premature, and began regular testing and eye exams under anesthesia in Rochester, acting as though he did have the gene, until the DNA tests came back.

In approximately 5% of cases, the specific defect is indiscernible in DNA testing.  Results from testing found that I fall into this 5%.  The next step was to compare my father's RB1 gene to my son's- if they were the same, it meant he didn't have the defective RB1 gene.

No anomalies were ever found and it was later confirmed that his RB1 gene was the same as my father's, which meant he did not have the condition.  My blood is still undergoing a more lengthy process of RNA testing to have specific markers for the future.