Dec 18, 2018, 4:17 PM

You may look at Logan and see the blind cane or the hearing aids or the wheelchair but what I see is a strong, determined, resilient teenager with a passion for life, a huge smile and an awesome sense of humour.

In 2003 Logan was born seemingly healthy. At six months he developed a severe squint, aversion to light and his eyes started to wobble. He was sent for an ERG test and confirmed as legally blind with an initial diagnosis of Leber Congenital Amaurosis. At the same time, he was diagnosed with glue ear and given his first set of grommets. Age two he was also diagnosed with autism.

In the early years Logan had a lot of respiratory infections, pain in the joints and heavy nosebleeds. At age six he had a second operation to put in more grommets, but shortly after he was diagnosed with bilateral sensorineural hearing loss. He was not only legally blind, he was going deaf too.

It was at this point that I started doing my own investigation and research. Pretty simple really – I typed in Leber Congenital Amaurosis and hearing loss, and up popped Alstrom Syndrome. It is a very rare syndrome, one of the rarest of the rare. Even though so many of the conditions fit Logan to a tee it took me a few weeks before I decided we needed to see if this is what Logan has. The paediatrician had not heard of Alstrom Syndrome, but due to the many similarities she was happy to refer Logan to genetics. In May 2010 Logan saw the geneticist and had the DNA tests taken and sent off overseas. Three months later the results confirmed that Logan does have Alstrom Syndrome.

Alstrom Syndrome affects every part of the body, it is caused by a gene mutation to the ALMS1 gene. There is no treatment and no cure. By this stage at age seven Alstrom Syndrome had already affected Logan's vision and hearing and was showing itself in other organs of his body. From age seven to present day age 15, Logan has gone from being legally blind to being deaf-blind with both his vision and hearing continuing to deteriorate. He now has liver disease, stage 2 kidney disease, nephronophthisis, polyuria, proteinuria, a failed bladder and urinary diversion via a mitrofanoff, dilated cardiomyopathy, type two diabetes, respiratory issues, joint pain, the start of scoliosis plus so much more including ongoing daily fatigue and exhaustion.

Alstrom Syndrome has had a huge impact on Logan’s life. His life is far from normal, but it is normal for us. He attends a school for the blind, he receives support from an occupational therapist, a physiotherapist, vision, orientation and mobility instructors, adaptive daily living instructors. He is in a class with only a handful of other students and a high staff-to-pupil ratio. His curriculum is geared towards his individual needs and is based on skills and activities to help promote independence and enjoyment.

Logan attends frequent medical specialist appointments through different DHBs. He has ongoing tests to monitor for the deterioration of each of his conditions. Logan is on a multitude of medications to try to keep his many medical conditions stable. These are constantly being amended and adjusted as changes continue to occur. Logan is now in a wheelchair the majority of the time due to pain, fatigue and exhaustion.

Alstrom Syndrome has impacted every aspect of Logan's life but it has not dampened his spirit or his resilience. His sense of humour is intact, his zest for life still strong and his determination to get out there and enjoy the things he is passionate about still very much alive. Yes, in this house we live with Alstrom Syndrome, it has changed our lives one hundred percent, it does effect Logan all day, everyday. But it has not stopped us ensuring that Logan's shorter than normal life is one crammed full of amazing fun experiences.

Logan’s Mum Debbie

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