Beyond the Whirlwind of Diagnosis: What Parents Wish You Knew

Many parents speak of a “newborn bubble”. Those first days when a family cocoons its newest member. For Prudence Betros, the bubble was brutally burst when her son, Henry, now 13, was just four hours old.

“He was born with microphthalmia and sclerocornea – basically two eye conditions. The microphthalmia is little eyes or small eyes and then the sclerocornea is a cloudiness of the cornea.

“I describe it like if you were to look at him, his eye doesn’t look like your eye, with an iris, a pupil, and that type of thing. He looks… like a cloudy blue sky. So that means he’s totally blind. He has no light perception and so was born this way.”

Within four hours, a specialist – who later would become a key support – was called in, and delivered the news that Henry was blind.

“At that moment you’re sort of going through the highs of having a child. So that was a bit of a whirlwind when that happened, as you can imagine, the emotions were very high and very low all in one.”

A week later, at a follow-up appointment, Henry’s diagnosis was explained “very clinically”. “I was angry. We went through the seven stages of grief, my husband and I.”

Kerry Redmond’s whirlwind moment came when her daughter Kara, now 22, was 12 weeks old. At four weeks, she’d noticed Kara’s face and ears looked small, but her week eight health check passed without incident. After her week 12 check, however, the childcare nurse queried whether Kara had bilateral cataracts – a condition that ideally requires surgery between six and eight weeks, with 12 weeks at the absolute outside, to ensure optimal visual development.

“So, we got referred on and within that day we were in there getting seen and surgery the next day for one eye. And then surgery a few days later for the other eye. It was week 12, [and I was being told], ‘Hey, she’s lucky she’s not blind already’.”

A hearing test confirmed Kara was also profoundly deaf.

After a lifetime of operations, emergency department visits, and therapy, it wasn’t until a few years ago that Kerry was given a definitive diagnosis for Kara: Aymé-Gripp syndrome – a rare genetic syndrome associated with cataracts, profound hearing loss, distinctive facial features, and developmental challenges.

The third parent to share her story with mivision was Emily Shepard. Her son, Louis, was born with profound hearing loss. “It wasn’t until he was about three-and-a-half that he received the genetic confirmation that he had Usher syndrome type 1.” Usher syndrome type 1 (USH1) causes profound congenital deafness, balance issues, and progressive vision loss from retinitis pigmentosa (RP).

“That threw our world into a bit of a tailspin. We were still coming to terms with having a deaf child, and the therapy, and what that meant for his future and communication, and access to education.

“And then we found out that he would then start to begin to lose his vision as well. It absolutely just destroyed us. My body just aches thinking of that day and I break into a cold sweat. It was just the lowest of low.”

Don’t tell me it in five million words that I don’t understand… tell me that everything’s going to be okay, that we can do this, but we just have to do it differently.

Finding Their People

Although the conditions of their children differ, each of the parents described strikingly similar experiences. Their worlds were turned upside down – in a whirlwind, in a tailspin.

Prudence remembers desperately needing a “soft touch” amid the clinical jargon: “Don’t tell me it in five million words that I don’t understand… tell me that everything’s going to be okay, that we can do this, but we just have to do it differently.”

That soft touch came when her paediatric ophthalmologist, Associate Professor James Elder, brought in Vision Australia’s Beth Glover, who visited Prudence’s home two weeks later.

“She brought some toys and got on the floor with Henry. He was lying on a blanket and if I think about it, it was probably quite emotional. I have a feeling that I probably broke down to her, this strange woman in my house, but it was that intervention between James Elder and Vision Australia that really helped.

“And she came weekly, all different exercises. He was never a crawler, didn’t like tummy time, obvious reasons. ‘Why would I put my head up when I can’t see?’ And then about six months into it, when she started this [mothers’ and babies’] group for blind children called Puggles – and we all came together, it was like, ‘Whoa, you’re experiencing the same thing as me’. It was like this light bulb moment because at that point it was very isolating.”

Kerry counts herself fortunate to have had orthoptist Dr Sandra Staffieri (the guest editor of this issue) in her corner from the get-go.

“The hearing side of it, I was just given a book of stuff, which was really shitty, but on the vision side of it, while Kara was in her first operation, mum and dad were with me and Sandra just sat there with the three of us and talked about everything… she was just amazing with that.”

Receiving the genetic test results that her preschooler had USH1, Emily was told “go home and google it”.

I don’t know how, but this has to be a good news story.

From Parent to Advocate

“We left knowing absolutely nothing about the condition, what it meant, what supports were available, what to do next. And on that day, we came home and obviously we had to tell family; he’s not just a son, he’s a cousin, he’s a nephew, he’s a grandchild, he’s a sibling. And I remember the burden of the family members looking to us for our reaction and how we were going to cope with this.

“I said to my husband on that day, ‘I don’t know how, but this has to be a good news story. We have to find our way out of this because it’s just too enormous for us to cope with’.”

Emily did her googling. There was no support. Her son had his sight. She was told to come back when his vision deteriorated. But, she wondered, “surely there’s something we could be teaching our son to build his capacity to cope with the vision loss that was to come”.

She met Hollie Feller, who also has a child with Usher syndrome, and together they went to an international conference in 2014.

“There was an Usher Syndrome Coalition, and they had this community; they had knowledgeable clinicians and they had connection, and shared lived experience, and belonging; and we just didn’t have that in Australia.”

So, Emily and Hollie created it: UsherKids Australia (usherkidsaustralia.com).

“That’s almost 12 years ago now. And, since then, we have created a pathway for that early diagnosis, that early connection, and support… I talk to parents on day one or week one and we’re able to say, ‘This is your community. We know these clinicians. This is who we can connect you with. This is the research that we’re doing. This is the hope that we can give you about the treatment options coming. This is how we can help you in the education system’.

“We meet them where they’re at and hold their hand a little bit in those early, really frightening days.”

In fact, their children’s diagnoses have created advocates of them all. Kerry speaks of advocating not just for her child’s care “but for her life. Full stop. And mine”.

She talks of the need to be proactive about self-education and marvels that she “hit the  jackpot” with her vision support team of ophthalmologist Dr Joanne Dondey and Dr Staffieri. “They’re the professionals that I have who have been amazing. They’ve been honest and they have not held back, and they’ve kept us up to date and they’ve supported us.”

Prudence makes a point of joining disability networks and taking an active role in advocating and helping blind and low vision clients in her workplace. But it’s out in public that she often feels she needs to stand up for her child.

“When you go out in public and he uses a cane – and it was more prevalent when he was tiny – ‘Oh, the poor darling, he can’t see’. No, no, he’s fine. He’s just learning to walk with a white cane. He’s fine. It’s the public’s perceptions of, ‘Oh my God, how terrible for you’.  And that was the hardest part at the beginning.

“And I become this advocate because the more people walking down the street who just keep walking and act normal, the better. The more people who take their heads out of their phones walking down the street so they’re not colliding with my son, the better. So, I think I’ve taken on this pseudo-advocacy role in all that I do – and my husband to a certain degree as well – not because we want to, but because we feel like we need to educate. But also, to say, ‘It’s okay. We just do things differently’.”

They’re the professionals that I have who have been amazing. They’ve been honest and they have not held back, and they’ve kept us up to date and they’ve supported us.

Seeing the Bigger Picture

But what of the eye care profession? All three women have navigated through the trauma of a devastating diagnosis. They have found trusted eye health professionals – ophthalmologists, orthoptists, low vision assistance specialists, ocularists – who have become an indispensable part of their lives.

But they’ve also encountered gaps. Gaps in empathy, in understanding, in information.

“I think that it’s come a long way in the delivery of [bad news],” Emily said, “but we still hear horrific stories of families with Usher syndrome getting told, ‘Enjoy your child, let them dream, but really they’re not going to amount to much, let them enjoy their childhood, but really life is over for them’.

“It’s just so not true. Not to underplay the significance of the condition, but with the right supports and the right accommodations and modifications and accessibility throughout life, our children… have got enormous intellect and capacity to learn; we just need to be creative in how we deliver that learning over the years.”

The message that should be delivered, she said, is to “have very high expectations”.

“Let your child dream and fulfil and experience all that life has to offer. It’s not a life sentence. It’s life changing, yes, but it’s absolutely not a life sentence.”

Siloing of health information was another concern raised by Emily.

“One of the frustrations with having a dual or a multisensory impairment is that we go to one clinician to do eyes and we go to another clinician or set of healthcare professionals for ears and they’re very siloed,” she explained.

“The burden on the parent to be able to educate the other sense is exhausting and being the educator and the tie-in between the two senses is a lot.

“So, we hope that healthcare professionals are open to learning about how other sensory losses impact their area of expertise. So, learning about, well, how does hearing impairment impact our vision? Or what might we do to modify some of the tests that we’re doing to ensure that they’re practical or useful for someone with a hearing loss? Just be open to looking at the whole person rather than just an organ, and also be open to collaborating with other healthcare professionals within that person’s team.”

“I would hope that they would be empathetic,” Prudence said, “that they would get on the level [of the child or family in front of them] and describe it in a way that’s not so clinical. Tell them it’s going to be okay and tell them that they’re doing a great job. Because I think sometimes they’ll come in – as I certainly did at the beginning – like, ‘What have I done? How is this happening to me? Why? How can we prevent this?’

“But in that moment, you just need to be told, ‘No, you’re doing a great job. This is the condition. This is what it means. And here are the supports.’

“Do they know how to tap into Guide Dogs [or other low vision services offered locally]? Do they know how to tap into Vision Australia or speech therapy or music therapy?

“A kid is a kid at heart and just wants to play. Have toys in the clinic, in the waiting room that make noise, that are tactile, that are not just picture books stacked in a corner.”

And create connection. “Henry’s a big music person and a big whistler and it drives me bananas. But if he would walk into James Elder and say, ‘James, can you whistle?’ And James would whistle back, they’ve got that connection and it makes it less scary than coming in and the doctor just talking to the parents and completely ignoring Henry.

“For me, it’s just making that connection.”

A Different Future

Was Emily right when she said a good news story had to come from the devastation of a life-changing diagnosis?

For Kerry and Kara, the good news is that Kara is thriving. While it was far from a straightforward process, Kara can hear with cochlear implants. She catches public transport independently to some of her activities, works in a local café, and loves playing soccer in a mainstream team.

Henry is at a mainstream school, learning Braille and using technology for both entertainment and navigation. He has prosthetic lenses nicknamed Mr and Mrs Iris.  He has a long-standing network of friends – the “rat pack”, Prudence calls them – whose families first met through Vision Australia’s Puggles program. Although now spread across Australia, they meet regularly for teenage camps, run by Guide Dogs Victoria.

With UsherKids Australia, Emily has ensured other families won’t face the same isolation she experienced. The organisation now supports about 120 families, providing parents with information and, perhaps most importantly, connection.

“To have a family on the phone on day one of their diagnosis, to be able to give them evidence-based resources and knowledgeable clinicians is, I think, a good news story.

“I think there are so many good news stories in this; how we’ve coped as a family, I’m very proud of – we can’t control what happens to us, but we have a choice in how we react to those things and that, to us, is our own good news story.”

Louis, who loves music and wants to become a history teacher, is writing his own future. “He’s just passionate about owning his own story – he’s Louis first and has Usher syndrome second. It doesn’t define him.”

It’s a refrain that echoes in all three interviews. Their children’s eye conditions have shaped their lives, but they have never defined their futures – and that’s something these three women want eye health professionals to remember.