Melbourne mum Yael Cohn is the devoted parent of a gorgeous Maximus, who is just 3 years old. ‘Maxi’, as he is affectionately called by his family, has a life threatening, regressive medical condition that has gone undiagnosed for two years, and his condition is getting worse.
Yael urgently needs help to:
- Get a diagnosis for Maxi’s illness.
- Find other children globally suffering the same symptoms, so that a diagnosis can be found. If other sufferers band together, they can put pressure on drug companies to create an affordable drug to control or cure the illness.
How can you help?
Take a minute to read Yael’s story below. Then, share Yael’s story (click on the Facebook and other social media icons, page left, to share) with as many parents and friends as you can. By reaching out to your network, other parents with children suffering these same symptoms can come together to find a diagnosis and potentially, a cure.
Yael’s story so far…
“It was Good Friday 2013. Maximus and his twin cousins, Monique and Bianca, and I appeared on Channel Seven’s Royal Children’s Hospital Good Friday Appeal. I was full of nerves that day. It was my first appearance in front of the camera at a studio where I had been so often in my role of Molly Meldrum’s Personal Assistant. This time, I was speaking about our experience – I was one of the parents that my heart used to bleed for when this time of year came around.
Being amongst familiar work friends and colleagues made the job easier, and I had nothing to hide – I was there to tell the viewer’s how fantastic this world class hospital was The Royal Children’s Hospital in Melbourne and the many specialists have been to our son. I was also there to spread the word that our son was yet to be diagnosed, in the hope that someone, somewhere, might know something.
When we arrived home that day, our family had recorded the appearance and we sat eating dinner watching it play back.
I remember feeling proud that I had managed to keep it together and get the most important bits of information out before our limited airtime was up.
Later that night, tears welled in my eyes as I watched Molly Meldrum speak of his experiences with Maxi. After 40 years of appearing at the Good Friday Appeal and visiting the hospital, Molly explained how this year really hit home, after visiting his little mate Maximus.
So, how did we arrive at this point? We had a perfectly healthy birth and a seemingly healthy child, who suddenly, at 9 months of age, developed two tumours in his right eye. Only one month later skin lesions began to appear, but there were no other signs of illness. Then one day, at 16 months of age, Maximus started to show signs of mobility regression and began to blow out in weight. Doctors discovered several lesions in the white matter of his brain, as well as many abnormal signals in the brain. He had high blood pressure, which to this day he is still being medicated for.
There were all these symptoms, but no one could tell us what it all meant, the cause or how we could reverse the symptoms.
The most frightening part is Maxi’s weight gain: he is just 3 years-old and he weighs 32kg. He is on a strict no-fat diet and eats very little. He also has an exercise and daily activity routine to keep him as active as possible. However, he also suffers from chronic fatigue syndrome and at times is immobile for hours.
The morning following the Good Friday Appeal was Easter Saturday, and I was a lost soul. I was searching every day and every night for answers on the Internet to cure our boy from a degenerative disease. But there were no answers, and before my eyes, his condition was worsening.
Like a mad scientist (but not as clever), I set out to do two things I had never done before – create a YouTube clip and a website, whatswrongwithmaxi.com. I decided it was time to tell the world – there was nothing to lose. I had to find out what was wrong with Maxi. The doctors have no answers and we are prepared to go wherever we have to in the hope of finding answers and cure for our baby.
It was after late one night, after feeling like I had exhausted every possible avenue that Google had to offer, that I decided to type in ‘Undiagnosed Children’ into YouTube instead.
A whole new world opened up. This was just one of many nights my partner, Edan, came and yelled at me to go to bed (I would forget to sleep if it weren’t for his nagging when I was in this state of desperation). I have him to thank for my sanity as he definitely keeps me in check. Suddenly, on the web, I saw lectures and conferences, and the medical lingo was not as frightening when diagrams were being drawn and things were explained in simpler terms. I found a conference where a Dr. William Gahl was speaking about his Undiagnosed Disease Program in Maryland USA.
I set out to find more detail about his program and came across the application form. It said they accepted a couple of international candidates each year. I read the long list of criteria and Maxi ticked every box.
Being a bit of a control freak, I was not going to pass up this opportunity by having only one of Maxi’s 15 specialists put forward his application, with their singular and differing perspectives about his condition. I say this with no disrespect as I have very high regard for each of the specialists that care for Maximus. I went to Freedom Of Information at the Royal Children’s Hospital and paid for all of Maximus’s medical records.
I set out to prepare the application of my lifetime. I called it my PHD (I know that may offend those who have a PHD, but it was as close to completing a PHD that I will ever get). I so desperately wanted them to take Maxi’s case seriously, so I gave them all the information they could possibly require. Like Eminem kept saying in my head, ‘You only get one shot, do not miss your chance to blow. This opportunity comes once in a lifetime yo!’ I think that’s how it goes! Anyway, I created a huge folder of medical information that cost a fortune to post!
There were never any guarantees they would accept Maximus; we were so far away. And there are thousands of families in the world in similar situations vying for a place in this program.
In the meantime, there was still no definitive diagnosis despite more and more specialists and tests.
Then, one day in December 2013, about six months after we had sent our application, we received a letter from Federal Post in USA, from the National Institute of Health Undiagnosed Disease Program stating Maximus had passed the stringent criteria and had been accepted for evaluation in the program.
WHAT! NO! WAIT! WHAT!?
I still cannot believe it! Maxi’s the first Australian ever to be accepted to the program.
Only one week from departure (departing May 7, 2014) and two weeks from Maxi entering the building of the world-renowned one-of-a-kind NIH Undiagnosed Disease Program, I still can’t believe it!
So that is our year so far – our remarkable, incredible, unfathomable year. Genome sequencing and simple equipment, and any chance of diagnosis, were all intangible dreams one year ago. Now, we have lift-off. Thanks to so many wonderful huge hearted people, Maximus has a second chance at a diagnosis and possible cure, and the journey continues thanks to The Shane Warne Foundation, who has been a tremendous support, and to Tom Manwaring from www.italk.travel/ – without Tom’s generosity this amazing opportunity to take Maxi and our family to America would not have been possible. I am looking forward to sharing our experiences in this blog whatswrongwithmaxi.com. Edan, Jacob, Maximus and I thank you!
The Shane Warne Foundation has not only sponsored the family’s trip to America, but supported them by sharing their story.
A special thanks to Tom Manwaring from italktravel, as this opportunity for Maxi and his family to travel to the US would not be possible without his generosity. Tom and italktravel provided 4 return class tickets to the US, organised for the the family to visit New York, LA – Disneyland, Legoland, Universal Studios, plus booked them into some amazing accommodation for their whole trip, along with VIP transfers.
Yael, Maxi and the whole family will be patients of the NIH Undiagnosed Disease Program, a hospital in Bethesda, USA. They left Australia on May 7, 2014. “Maxi will be undergoing general anaesthetic to do quite a lot of tests on him, which won’t be pleasant, but it will be worthwhile because all the research will hopefully cure my son,” explains Yael. To follow Yael’s blog and journey to find a cure for Maxi, visit whatswrongwithmaxi.com or http://www.tswf.com.au/find-a-cure-for-maxi/. To email Yael direct, message [email protected]
To send Maxi cards and well wishes
The Pines Post Office
PO BOX 3123
Doncaster East, Victoria 3108
For more information on the Shane Warne Foundation, who generously offered support to help Yale’s family visit America and the NIH Undiagnosed Disease Program, click here. Or for info on italktravel.com, who sponsored the family’s trip to America to help find a diagnosis, click here.
Yael is trying to spread the word and find a diagnosis and cure for Maxi. His story has appeared in New Idea Magazine, Channel Seven news, and in the Herald Sun Newspaper.
Don’t forget to share Yael’s story with family and friends, so together, as a community, we can help find other children with the same symptoms to identify a diagnosis and treatment, or better yet, a cure.