Help Get Lucas and his Family to the Stickler conference in USA

STICKLER FOUNDATION CONFERENCE IN PORTLAND, OREGAN, USA

13-15TH JULY 2018

We are a local born and bred family from Eltham, Taranaki, consisting of myself Sonia (33), my husband Michael (33) and our two boys, Lucas (4) and Andre (2.5).

Lucas was born with Stickler Syndrome. (hereditary progressive arthro-ophthalmopathy and genetic malfunction) and Glaucoma. (Glaucoma is a group of diseases that damage the eye’s optic nerve and can result in vision loss and blindness) as well as severe myopia (short sightedness) of minus 20 (of which he could only see 1 cm in front of him in each eye).

This was diagnosed around 4 months of age, after several visits and treatments for what we all thought was conjunctivitis. His right eye was larger than the left, and the cornea was very cloudy. Lucas was not a happy baby and is still very sensitive to light and requires sunglasses whenever he is outside.

Our GP referred us to the local ophthalmologist who immediately sent us to Greenlane Hospital in Auckland to have his first eye surgery to reduce the pressure, which was 48 and should have been around 12-15. Since this initial visit we have been to Auckland over 50 times mostly for his eyes and Lucas has had over 25 surgeries, anaesthetics and sedations. These surgeries include:

• Goniotomys x 3

• Insertion of molten tube

• Lots of needling work

• Lens implant from Switzerland after which he had great vision but was then removed following his detached retina.

• Cataract surgeries in both eyes

• Prevention surgery for a detached retina including cry therapy and laser therapy. (This surgery was the first performed in New Zealand and one of only a few in the world his age to have had this done)

• Detached retina. (8 times higher risk of having this due to stickler syndrome)

• Taking of the pressure and photographs of the eye

Lucas has eye drops every day, has had months of patching and over a year of contact lenses every day from the age of 5 months old until his cataract surgeries. At times he has had to have up to 16 eye drops per day.

At the moment Lucas can only see out of one eye. The eye he had his detached retina in is full of oil to keep the retina together and we are still unsure whether he will be able see out of it in the future.

The ophthalmolgist in Auckland clinically diagnosed Lucas with Stickler Syndrome at our first visit (4 months old). We were then referred to the Genetics doctors from Wellington and Auckland who took further tests, which were then sent to Pennsylvania United States of America to be analysed and confirmed the initial diagnosis of Stickler Syndrome.

Both his Stickler Syndrome and Glaucoma require on going hospital visits.

We have ongoing appointments at the following hospitals:

• Greenlane Hospital Auckland: monthly sometimes weekly appointments

• Starship Hospital Auckland

• MiddleMore Hospital Auckland

• Counties Manukau Super Clinic Auckland

• Taranaki Base Hospital New Plymouth

These appointments are for:

• Audiology (conductive mild hearing loss at present)

• Paediatrics

• Genetics

• Radiology X rays and MRI for hips and bones

• Ear nose and Throat

• Orthopaedics ( orthotics for his flat feet for all footwear)

• Ophthalmology

• Optometrists

• Speech Therapists

• ECG’s and ultra sound for his heart

• Bleenz assessment team

• Plastic and Craniofacial Specialists

• Cleft palate team

• Brain Surgeons

Lucas’s specialists have told us many times that his condition is on the world stage. Specialists quite often discuss his case at world conferences to discuss options that could be made available for him.

Although Lucas has been through so much he is a very happy young boy who loves life, loves his tractors, his family and friends and lives life to the full. He will have a big road ahead of him and we are so thankful to our family and friends and the medical profession for everything everyone does for us.

The Stickler Foundation in America are hosting a conference in July this year. This is the first time in a while that there has been funding available for the foundation to host this and it has been suggested to us by our specialists that this would be extremely beneficial for both us as parents and for Lucas to attend. It would give us the opportunity to learn more about the medical terms, learn from case studies, meet other people and children who suffer from the same syndrome and finally get an opportunity to see first-hand what research is being undertaken as well as any new developments for treatments.

Currently there has not been another case like Lucas here in New Zealand, which means there has not been another family for us to connect with here. This has left us feeling very isolated and alone. The conference would give us an opportunity to meet other families living with the same conditions and give us some very valuable personal connections. It would also equip us with better knowledge and understanding, so that we could help another family in New Zealand should another case be diagnosed.

With the rarity of this syndrome in New Zealand, the specialists are also learning about the condition with us. They quite often refer to case studies found on google and as previously mentioned, discuss his case with specialists world-wide. It would be hugely significant for us to hear these doctors speaking at the conference, for real life stories to be heard and to potentially introduce Lucas to some of the doctors who are already so familiar with his case.

As you could imagine, although it would be our dream to be able to attend the conference, there will be some large costs involved. We have set up this page to seek financial support to help make attending this conference a reality for myself and my family.

Any donation, or support, would be so gratefully received.

Yours faithfully

Sonia and Michael Kiser

Stickler Syndrome is characterized by the following clinical features:

• vitreoretinal degeneration

• myopia ( Lucas was born with severe myopia minus 20)

• cataracts (has had them done in both eyes)

• retinal holes and detachments (detached retina in left eye)

• sensorineural hearing loss (at present has conductive mild hearing loss)

• a characteristic facial appearance with mid-facial flatness, small chin, long upper lip (philtrum) (Lucas’s characteristics)

• palatal abnormalities

• cleft palate

• bifid uvula (which Lucas has) or high arched palate

• musculoskeletal problems including loose joints, scoliosis, chest deformities, a hip disorder of childhood (Legg-Calve-Perthe’s disease) (Lucas is being managed for this every 6 months, a number of his body parts are are very clicky )

• early onset degenerative osteoarthritis (onset before age 40 years by X-ray)

• mitral valve prolapse

• connective tissue, which is the material between cells of the body that gives the tissue form and strength and is found all over the body can be compromised

• Stickler Syndrome often affects the connective tissue of the eye, especially in the interior of the eyeball (vitreous humor), the specialized tissue that serves as a buffer or cushion for bones at joints (cartilage) and the ends of the bones that make up the joints of the body (epiphysis)

• A characteristic feature of Stickler Syndrome is a somewhat flattened facial appearance. This appearance results from underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. Opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing. (as a baby he sounded like a piglet and use to take hours to feed)

• Most people with Stickler syndrome have skeletal abnormalities that affect the joints. The joints of affected children and young adults may be loose and very flexible (hypermobile), (Lucas is) though joints become less flexible with age. Arthritis often appears early in life and may cause joint pain or stiffness. Problems with the bones of the spine (vertebrae) can also occur, including abnormal curvature of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). These spinal abnormalities may cause back pain.