PFVS

Joshua with Grandma, wearing his patch.

PFVS.  It stands for Persistent Fetal Vasculature Syndrome (formerly known as PHPV - Persistent Hyperplastic Primary Vitreous), and Joshua was diagnosed with it at his two month well-baby visit.  It was an evening appointment, and we were scheduled to leave for Vermont to spend Christmas with my family a mere two days later.  At first I didn't understand why the appointment was taking so long, and then I was in shock.

While doing a routine eye exam (during which the examiner shines a light into the eyes searching for the "red reflex," which is actually light reflecting off of the blood vessles of the retina), our wonderful pediatrician noticed something awry.  His left eye seemed fine, but she couldn't get a consistent red reflex in his right.  She checked and rechecked, and grew quiet.  Something was blocking it.  We finally managed to wrench her concerns out of her, and she admitted that she was afraid it might be a tumor.  (And if this was the case, the concern was possible retinoblastoma--a rare ocular cancer--though she left out this part.)  She was going to make some calls and see if a specialist could see him immediately.  Given that it was after seven on a week night, we slowly realized that this must be serious.  She told us that we should prepare for the possibility that Christmas travel plans might need to be cancelled.

Ultimately we were told to proceed to Children's downtown first thing in the morning for him to be evaluated...we went home and panicked.  Joshua's days and nights were reversed and he wouldn't rest; we couldn't sleep; we were afraid that it might be cancer; we made each other more nervous.  Around five the next morning we left our apartment to journey down dark, icy, wintry Chicago roads to the hospital.  We had no referral so the intake person balked, but our doctor's office informed them that it was an emergency evaluation for retinoblastoma and we were basically seen right away.

And then relief came.  We praised God.  His symptoms were not consistent with retinoblastoma...instead, he was diagnosed with a rare eye defect called PHPV.  Surgery would be necessary, and there would be long-term repercussions...we didn't care.  We were elated.  I think Lance cried.  We were just so glad that it wasn't something potentially fatal.  Anything else, we could deal with. 

The breakdown of the condition is this:  as mentioned before, it's a rare eye defect.  No one knows what causes it.  It falls on a continuum of severity, and several symptoms may or may not be present.  These include micropthalmia (the eye being smaller than usual), cataracts, leukocoria (abnormal white appearance to the eye), retinal issues, and a variety of other structural problems within the eye itself.  The eye can be so profoundly affected that no vision is possible, or symptoms can be relatively mild and very treatable.  Joshua falls somewhere in the middle.

He does have micropthalmia, though is is very minor (about one millimeter of size difference).  The internal structures of his eye were fairly severely malformed...they were fused together and calcified; the doctors weren't even sure that his optic nerve was normal and functional (it is!).  He had cataracts.

About two weeks after his diagnosis, he went in for his first surgery.  I can't describe the difficulty of handing your newborn off to a medical team for surgery.  It was gut-wrenching, as was the wait.  All went beautifully, though, and at the end of the day we took our sweet boy home and he proceeded shake the whole thing off as though it were nothing.

Even better, though, has been the progress he's made since the initial diagnosis and surgery.  We see our specialists and technicians at Children's regularly.  He currently has excellent vision in his left eye, and very functional vision in his right...even approaching normal for his age range!  He wears a contact lens that he tolerates beautifully (this replaces the natural lens that was removed at 10 weeks), and we have very few struggles with it.  He wears an eye patch for approximately half of his waking hours to try and force the brain to recognize and use the right eye...so far, so good!

I wanted to share this for several reasons:  one, there is a real dearth of PFVS information online!  It's a rare issue, and it's challenging to find factual information, let alone personal anecdotes or support (if you happen to be reading this and have had a child diagnosed with PFVS or a related issue, feel free to email me...I also plan to add some quality links to other resources here in the future).  Two, some of you may notice online that Joshua is wearing an eye patch in some of his pictures, or that his right eye crosses occasionally, and we wanted to have a central place to share his story.

We're unbelievably grateful that our little guy is healthy and doing so very well!  He's making wonderful progress and we couldn't be more encouraged.  Thanks for taking a few moments to share our journey with us.  Be good to each other.

                                                                                        Love,
                                                                                          Lance, Amanda, & Joshua

I will praise the Lord as long as I live;
I will sing praises to my God while I have my being.

Put not your trust in princes,
in a son of man, in whom there is no salvation.

When his breath departs, he returns to the earth;

on that very day his plans perish.

Blessed is he whose help is the God of Jacob,
whose hope is in the Lord his God,
who made heaven and earth,
the sea, and all that is in them,
who keeps faith forever;
who executes justice for the oppressed,
who gives food to the hungry.

The Lord sets the prisoners free;
the Lord opens the eyes of the blind.

-Psalm 146:2-8a