Lochie's BPES Journey

Lochlyn Italiano was born 4 weeks early on the 13th of May 2022 to second-time parents Anthony & Chelsea Italiano. Weighing just 2685 grams their little man needed to stay in the neonatal ward for a couple of days. It was then the nurses were concerned that he had not opened his eyes. They met with the Paediatrician who mentioned that something wasn’t quite right.

An ultrasound and an MRI were scheduled to measure the eyes. The results proved that his eye fishers were not the correct size. They were referred to see a paediatric obstetrician specialist who confirmed it was Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome (BPES) a very rare developmental condition affecting the eyelids.

Research mentions FOXL2 is the only gene known to cause BPES. This gene controls the production of the FOXL2 protein, which is involved in the development of the muscles in the eyelid as well as ovarian development in females. Mutations of this gene create four major features that are characteristic symptoms of BPES and present at birth: narrowing of the eye-opening (blepharophimosis), droopy eyelids (ptosis), formation of an upward fold of the inner lower eyelid (epicanthus inversus) and an increased distance between the eyes (telecanthus).

Due to Covid-19 the urgency to schedule an oculoplastic surgeon appointment and also genetic testing was delayed and with wait times of 6 - 12 months. After 7 months they finally met with an oculoplastic surgeon here in Perth who explained Lochie’s case is very severe as he can only open his eyelids a few millimetres. Regular obstetrics appointments are required to check his range of vision. If not corrected with surgery asap it will result in a reduction of vision (blindness) as well as spinal problems from having to lift his head and arching his back to be able to see.

With BPES being a rare syndrome there is minimal support and information available. Parents Anthony and Chelsea extensively researched surgical options here in Australia with only a handful of surgeons responding that they were willing to operate on a baby of his age (7mo), however, they would only use the silicone sling technique where a piece of elastic silicone is inserted behind the skin and held just above the eyebrow to correct the lack of muscle in the eyelid. Unfortunately, this requires a minimum of 4 surgeries before the age of 4 to complete, but again no sense of urgency even with the recommendations.

Seeking help from a worldwide social media support group they received information about a surgeon in Spain, Dr Medel who has vast experience worldwide using the frontalis flap technique where existing muscles and tendons are fused together for the eyelid to learn to operate on its own naturally. He has recently performed two surgeries on children of similar age and with the same severity with amazing results. As Lochie’s case is severe he will also require additional epicanthus and telecanthus bilateral surgery but both can be performed at the same time. The results they have seen speak for themselves and leave no doubt in their minds that it is the best option for Lochie. They are truly amazing with minimal scarring and a fast recovery time of only 3-4 days before travel.

They are hoping to schedule the surgery for September 2023 when he will be 16 months old. They have been advised he requires the surgery before he is 18 months and potentially another surgery to maintain/tweak as the face grows before the age of 4. With Covid-19 raising the prices of travel and accommodation with your help we are hoping to raise a minimum of $100,000 AUD to cover the costs for the family to travel and his ongoing surgeries/care. Although there are surgical options here within Australia the frontalis flap technique is the best option for Lochie as he will only require one surgery until he is an adolescent/adult.

Words cannot express how much they want to see their son's eyes open for the first time and have him see them with a full range of vision and the world around him. Not only for him to see but look normal and without the syndromic features.

It would mean the absolute world to parents Anthony and Chelsea if you would be able to share amongst your friends, family and community to help their family reach Lochie’s surgery goals and to also raise awareness of this rare condition.