Michael, Lucas, Sonia and Andre, looking for help for Lucas

In rural Taranaki, on a dairy farm that looks just like any other, there is a boy playing with his dad’s tractor. Just four years old, he marvels at the giant wheels and squeals with delight when the engine starts. It’s a scene endemic to rural New Zealand, but this particular little lad, Lucas Kiser, is not like other four-year-old boys. In fact, he's very rare indeed.

“Lucas was diagnosed with Stickler Syndrome, infantile glaucoma and severe myopia when he was four months old,” says his mum Sonia, who is married to Michael and has another son, Andre, now three. “He had pressures of 38 in his right eye and 24 in his left the day we saw the ophthalmologist, and he has been as high as 48.''

Stickler Syndrome is rare but not unheard of in New Zealand. Characterised by structural problems of the eye and unusual facial features, the biggest optical risk for the patient is usually retinal detachment. However, Lucas has an especially rare version of this recessive genetic disorder that walks hand-in-hand with glaucoma and is estimated to affect just 5%-10% of people with the condition.

“He wasn’t a happy baby. The first four months were hard,” admits Sonia. “He cried a lot, rarely slept, didn’t feed well and was sensitive to light so we couldn’t go outside much.”

The family went to their GP frequently for what everyone thought was repetitive conjunctivitis, but when Michael saw the cloudy film on Lucas’ eye he decided enough was enough and they bundled Lucas off to see their local ophthalmologist, Dr Ross Neville-Lamb who referred them directly to paediatric specialist Dr Justin Mora in Auckland with suspected glaucoma.

Having seen a patient with Stickler before, Dr Mora recognised the characteristics of the condition and sent a blood sample to the USA where the diagnosis was confirmed by geneticists.

“We’ve been so lucky to have Dr Mora, he’s amazing,” says Sonia. “He’s seen Lucas over 40 times in the last four years and he’s brilliant with him.”

To date Lucas has had over 25 surgeries, anaesthetics and sedations, including three goniotomies; a Molteno tube insertion; a lens implant, later removed following a detached retina; cataract; and cryo and laser therapy. He has eye drops every day, has had months of patching and can currently only see out of one eye, and it’s not clear if he will be able to see out of it again. On top of his eye problems he has a hearing impairment and could suffer early-onset arthritis as he grows older.

“He’s a trooper and hasn’t let it stop him,” says Sonia. “He loves doing jobs on the farm and goes to kindy a couple of days a week. He’s such a happy boy, loves his friends, and loves his tractors!”

When the Kiser family heard about the Stickler conference in Portland, Oregon, in July this year they were instantly keen to go. It will be packed full of specialists from across the globe, plus other families the Kiser’s can relate to.

“There are two other families in New Zealand who have been in touch with us, who have Stickler,” says Sonia. “But as far as I’m aware they don’t have glaucoma as well. We feel so alone. To be able to meet people who are actually living through this, to talk to their specialists and learn how we can support Lucas, and how we can support his teachers when he starts school, that would be amazing.”

Sonia notes how isolated New Zealand is, not just geographically but in terms of Stickler experience. “Dr Mora and other specialists have been learning with us on this journey. (At the conference) we could find contacts and information that could be essential to their continued help with Lucas and other Stickler patients in New Zealand.”

The airfares alone will cost $10,000 so the family has reached out to their local community for help. They’ve received donations from two local charities, Team Hope and Little Fighters Trust. They also have a Give A Little page that has raised $4525 so far.

“We’ve had amazing support from our friends, family and our community so far,” says Sonia. “This is such a great opportunity for us, and we feel so grateful and humbled by the help that we’ve been given.”

The ophthalmologist’s view

NZ Optics spoke to Lucas’ lead medical professional, ophthalmologist Dr Justin Mora from Auckland Eye, about this case.

“Stickler syndrome is not uncommon, but to have infantile glaucoma and Stickler syndrome is very rare. There are three cases in the literature of children who were diagnosed with Stickler syndrome based on these characteristics. Lucas Kiser is the only confirmed genetic case in medical history. He is unique.

“While Stickler syndrome is a connective tissue disorder, a major characteristic is a structural abnormality of the eyes causing severe myopia. Invariably Stickler patients are very short-sighted. In some children, there is also an abnormality of the anterior segment, which can lead to glaucoma.

“It’s been interesting for me to look after Lucas, from a medical perspective. He’s a very challenging case. As a paediatric specialist, I see a lot of children with infantile glaucoma, but not with a refractive error of -17, which is what Lucas had. When we removed his cataract in the right eye we had to answer the question as to what to do with the left, which still had a -16 refractive error. Do you leave him unbalanced? Do you remove a healthy lens? There have been some tricky questions to answer.

“There are other Stickler cases in New Zealand, and it can be diagnosed in young adults as well as children. Severe short-sightedness at a very young age should raise the question, ‘is there something else going on?’ Always refer such cases to a paediatric ophthalmologist. Retinal detachment is the main risk for Stickler patients.

“The Kisers have been up to Auckland countless times and Lucas has had several surgeries under anaesthetic, but they’re such a positive family and he’s a happy boy. I’d love to see them participate in this conference. Any family with a child with a rare condition will value meeting other families with similar problems, knowing they’re not alone. It could also open up future treatment options to Lucas as the family develop networks with families and practitioners in the US. It would be a great thing for them and I fully support it.

To help the Kiser family make it to the Stickler conference in the US, please visit www.givealittle.co.nz/cause/help-get-lucas-and-his-family-the-stickler

Editor’s note: Writer Jai Breitnauer was so moved by Lucas’ story she has donated part of her writing fee to the family’s cause.

Stickler Syndrome – The facts

• Stickler Syndrome is the umbrella name for a group of hereditary conditions. The main characteristic is a distinctive facial appearance
• Abnormalities include eye structure issues, joint problems and hearing loss
• Cleft palate and small lower jaw can also lead to breathing and feeding problems in infants
• Patient joints can be loose and hypermobile. Arthritis and osteoporosis can occur early in life
• It’s an inherited condition, but the more severe type that Lucas has is recessive