The story of Debbie
Our journey with Alstrom Syndrome … Logan and Mum Debbie New Zealand
The medical story … born healthy … 9/10 on the APGAR scale… high scorer.. it’s in the genes .. or so I thought!
At about 6 months noticeable squint in bright conditions and the onset of nystagmus.
Numerous tests later including MRI, ECG, ophthalmology tests and an ERG Logan was diagnosed with rod cone dystrophy at the time thought to be caused by LCA Leber Congenital Amaurosis and diagnosed legally blind.
Within the first two years of life he was also diagnosed with High Functioning Autism
and glue ear requiring Grommets.
His early years were unhealthy, lots of chest infections, very little sleep, lots of conditions not yet diagnosed but showing themselves all the same. The fight for recognition and validation had begun .
All our focus was on learning about strategies for dealing with the autism, hours every day on 1:1 play sessions to teach him interaction and some flexibility. Alongside this we were working with speech therapists, RTVs resource teachers of vision, early intervention teachers and physiotherapists plus running the gauntlet of medical specialists and searching for answers .. beginning to question and to look beyond the diagnosis.
After two lots of grommets, second at age six, Logan was diagnosed with permanent bilateral sensory hearing loss .. suddenly adding deafness to his growing list of conditions threw everything we had previously thought up in the air, Google became our new doctor…. within seconds of googling rod cone dystrophy plus hearing loss up popped Alstrom Syndrome… how many times I read through the article I’m not sure I lost count but it fitted Logan to a tee. Logan fitted the list of conditions encompassed by Alstrom Syndrome out of 25 I think he had, or showed the early symptoms of at least 22 of them.
Genetic testing for Alstrom Syndrome in 2010 came back positive .. yes Logan has Alstrom Syndrome. Logan was 7 years old. Then a new chapter in our lives began… filled with ongoing medical tests, monitoring, the addition of many new specialists to his medical team and so many medical appointments. Life became a whirlwind of appointments, tests, test results, medications, consultations. Just one blur all centred on one thing Alstrom Syndrome. We attended conferences, we did research, we tried to educate everyone around us, family, friends, teachers, specialists about the enormity of Alstrom Syndrome. For a while normal life was lost to us. During this time new medical conditions started, others deteriorated, life changed for Logan
From a legally blind but still quite active 7 year old to a frequently sick and exhausted 12 year old most often resorting to being in his wheelchair.
But things took a turn for the worse just before his thirteenth birthday .. bladder failure causing acute renal failure. 2016 was a year of hospital admissions and multiple surgeries. Life and death moments .. our introduction to the Palliative Care Team. 2016 was a year focused purely on survival. It was also the turning point in our lives that had become so centred on all things Alstrom .. we decided to put Alstrom Syndrome on the back burner.. yes we still go to all his many medical appointments, yes we still do ongoing medical tests ultrasounds, echocardiograms, BP monitors, X-rays, blood tests, hearing and vision tests etc but we don’t focus on them we focus on the fun, the life we have outside of Alstrom Syndrome.. the events we go to, the people who bring us joy and happiness, the fun we can have, the wild crazy adventures that we undertake .. these are the things that matter now, these are our passion.. this is our life. Our mission in life on this Alstrom journey is to pay heed to the Syndrome but to also live life to the full, to live, laugh and love, do the things Logan is passionate about as often as we can.
Logan is now almost 15 and he now has most of the conditions known to be part of Alstrom Syndrome, BUT in between the sick days, the days when he is in pain or too fatigued to move we go out, we do the stuff he loves, we live life. We are happy.
In this house there is laughter every day. Yes there is Alstrom Syndrome but it is not the thing we focus on. We focus on living. ❤️