Rachel's Update At 14 Months

We've been very blessed that Rachel's doctors are who they are. They are very good, even checking with doctors overseas on their own initiative, including informally discussing her case at the Mayo Clinic.

In a nutshell, she has neurofibromatosis type 1 (NF1) involving the right orbit, the plexiform tumor originating from the trigeminal nerve, with congenital glaucoma of the right eye, head and facial enlargement on the right side above the jaw, and multiple cafe au lait spots all over her body including a large patch on the right side of her face. She currently also has the sniffles, although that wouldn't really count.

Chemotherapy is out because the tumour is not fast-growing cells. Radiation is out because it can trigger more tumours or cause malignancy of the existing one. Surgical resection is on the cards for when she's older and has the size to deal with the likely high volume of blood loss because the tumour is highly vascularized and deep in the head, making it hard to staunch bleeding.

For now we're aggressively treating the glaucoma. She has had multiple laser ops (TCP) done to zap off the fluid-producing parts, but they keep regenerating. Already had a trabeculectomy to open a hole in the eyeball when she was only 1 week old, but that closed up pretty fast. Then she had an Ahmed implant put in to drain fluid via a tube into a self-release reservoir inserted onto the exterior of the eyeball. It's working but every now and then too much fluid will be produced and raise eye pressure. So, she has just had another TCP done this Monday to cut fluid production. Hope the effects of that will last a while longer than the previous ones.

NF1 is a progressive thing. She may develop tumours anywhere else along the nerves (inside the body or on her skin) later on. We can only hope they'll not be in dangerous places. She may have learning difficulties. Or she may not get anything more than what she already has. No one can tell since individuals vary a lot in how NF1 manifests. But she certainly will have to deal with the facial disfigurement all her life.

So far no problems with that other than us explaining to people that no, she didn't get involved in some accident or bad fall, she didn't get socked in the eye by a south paw, but is just "born like that". And people pity her and play with her, and then get charmed by her response, and realise that the disfigurement is irrelevant and simply enjoy her chubby little curly-headed baby-ness. It's heartening and quite a tickle to see how it always follows the same path of progression when people first meet her, to them saying bye-bye with some reluctance!

So, one day at a time. Oh yes, we recently managed to get downgraded to become subsidized patients at the SNEC where she is being seen for glaucoma, instead of paying full private rate. That means 50% or more savings, thank goodness, considering it'll be a lifetime follow-up. Another good thing is that she is now a happy camper when it comes to taking oral syrups from the syringe, even protesting when we take it away! Silly baby.

Just for the record.