Help Lachlan get his 'big eyes' operation for BPES

Hi, we are raising funds for Lachlan who is our eldest son for a life changing operation on his eyes.

Early on after his birth we noticed that he did not open his eyes, in fact they remained closed for weeks. We saw various medical professionals and under took a number of tests which culminated in receiving news that Lachlan was suffering from a condition known as Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome (BPES) a very rare developmental condition affecting around 1 in 50,000 newborn children when there is no previous family history.

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).

Unfortunately in the UK the interventions offered do not tend to have great results and frequently fail, leading to multiple operations through childhood. It is really important to correct with surgery over the next few months to prevent any vision development issues. Lachlan can open his eyes around 3-4mm, which as you can imagine has a significant effect on his field of vision. There is a high risk however that if the Ptosis (droopy eyelids) is not corrected shortly his vision will not develop fully. He will also suffer from spinal problems, caused by lifting his head to try increase his ability to see what is in front of him.

With BPES being a rare condition there is minimal support and information available. Parents Fiona and Jamie have seen a number of specialists in the UK, however the surgery techniques used here are outdated and often fail, leading to children having to for 5-6 operations throughout their childhood. The method used here is known as 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, frequently the silicon sling detatches leading to a collapse of the eyelid. We can only imagine and hear stories from those who have had this heartache occur in school age children on the social and psychological effect this can have on children. We dont want Lachlan to go through the pain this will undoubtably cause as he grows up.

There is another option for Lachlan however. For the last 22 years Dr Medel (Spain) has been undertaking cutting edge surgeries with huge success rates, with a technique he developed known as the frontalis flap technique. He uses existing muscles and tendons and fuses them together , which allows the eyelid to learn to operate on its own naturally. He performs this surgery on around 100 children annually, with amazing results. As Lachlans case is severe he will also require epicanthus and telecanthus bilateral surgery, but these corrective surgeries can all be performed at the same time. The results that Dr Medel has achieved speak for themselves and leave no doubt in our mind that it is the best option for Lachlan, putting him on an even playing field with his peers as he grows through childhood.

We are hoping to schedule the surgery for June 2025, just before Lachlans 3rd birthday. This will mean that Lachlan will get his 'big eyes' and fully recover before he becomes school age, ensuring that he does not become an easy target for bullying and allow him to take part in the normal activites where peripheral vision is important, such as playing sports. Dr Medel has recommended that we undertake the surgery shortly as the risk of his vision development being effected increases sigificantly from ages 3 onwards.

The costs of surgery is just under 25,000eur and with travel and accommodation we expect to spend around 30,000euro in total.

Now and again Lachlan has been seen to use his fingers to open an eye wider, his face says it all on the difference it makes in what he can see. It would absolutely mean the world to us and be life changing for Lachlan to have his eyes open fully naturally, giving him the best possible start in life.

It would be appreciated whole heartedly if you would be able to share amongst your friends, family and community to help us fund Lachlans surgery, as well as also raise awareness of this rare condition.

Dreams Nursery Insch, where Lachlan attends who have organised a sponsored walk, 24km from Insch to Inverurie on the 31st of May to raise funds towards Lachlans operation. Fiona will be joining them on the challenge and Lachlan will be cheering them all over the line at the end!