Jan 28, 2016

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).

Jan 7, 2016

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.


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.