A Parent's Tale

[Guest guest]

On one of my visits to my ophthalmic surgeon when I was in my early

20s, he casually mumbled (as eye surgeons are sometimes inclined to

do) something about there being a 25% chance of my passing on BPEI to

my children. I thought little of it at the time, as my wife and I had

no intention of starting a family just then.

Some years later we were ready to start a family and I was concerned

about whether I ought to be bringing a child into the world that might

suffer as I had done. This is the cross that BPEI-carrying parents

bear. I asked my surgeon to tell me more about the genetics of BPEI.

Not knowing much more (well, he's a surgeon not a geneticist), he

instead referred me to, and sent an introduction to, the Professor of

Genetics at our city's main children's hospital, where they have a

genetic counselling service. His pre-introduction enabled the genetic

counsellors to do some research before we arrived, so we avoided the

usual " blepharo-WHAT? " response.

Armed with family photos and several pages of questions, we thoroughly

stretched the newly-acquired knowledge of the professor and his

registrar about the genetics of BPEI. After about an hour and a half

(we still had some questions to get to), they had run out of time and

begged us to let them summarise. We showed uncharacteristic mercy and

allowed them to give us the following wrap-up:

1. There is a 50% chance of passing on BPEI (not 25% as my surgeon had

thought)

2. BPEI is not always fully expressed. That is, even if it is passed

on, a child might have a mild dose of BPEI and show no or partial

symptoms.

3. Even if it is passed on and fully expressed, modern surgical

techniques can correct BPEI pretty successfully. They pointed out the

success of my own surgeries, even back when the techniques were still

being refined. Further, surgery is usually performed early, so a BPEI

child will only look " different " up to about school age, and be

" normal " forever after. Many BPEI folks can't (or barely can) remember

the trauma of their surgeries – and they're a lot less traumatic these

days.

4. Even without surgery (as long as sight is not occluded by ptosis),

BPEI folks live a pretty normal life, as far as quality of life is

concerned - again, they pointed to my own case. Without wanting to

belittle or trivialise BPEI in any way, they then reminded us that

every day they see people with major life-disturbing genetic problems

which can impact quality-of-life in a major way, such as haemophilia,

missing limbs, etc, etc. In the spectrum of possible genetic problems,

BPEI wasn't too bad (and it's correctible to some extent).

5. What are you waiting for? Go home and make babies.

We were greatly encouraged and comforted by this advice, and I wanted

to share that comfort and encouragement with the new parents,

parents-to-be, and would-be (if could-be) parents out there who might

be anxious, as we were, about bringing BPEI kids into the world. In

the worst case, it's truly rough for about the first 5 or 6 years, but

fine in the longer term. We have never regretted our decision to take

the plunge. Let not your hearts be troubled.

Rob