EJ's Journey

EJ is my 2nd youngest son, he has 1 younger brother, 2 older sisters and 3 older brothers, who all love him dearly. But EJ’s arrival took all my experience as a parent and tested it to its limits.

EJ is one of 3 in the world to have a diagnosis of Pyrroline-5-carboxylate synthase deficiency (P5CS deficiency) – AL­DH18A1 gene defect. He has been given many diagnosis’s and labels during his life, including severe developmental delay, gastro-oesophageal reflux, tortuous intracranial arteries with dolichoectasia, visual impairment, sleep disordered breathing, reversed sleep cycle and failure to thrive. In reality, his first label came while I was 38 weeks pregnant and in the middle of a covid lockdown. I could sense something wasn’t right and sought the help of my midwife. After scans I was confidently told my baby had dwarfism – however, we soon learnt they were mistaken, and our journey begins…

In the beginning my concerns were around feeding and latching, we persevered and managed to achieve weight gain, however EJ couldn’t co-ordinate properly so he would gag. He was hypersensitive so bath times, changing nappy’s etc all resulted in screams, and EJ screaming became our normal. From 3 – 10 months we noticed EJ wasn’t hitting milestones, his muscle tone was low, and he seemed fearful and sensitive to everything. He was forever crying; sleep was hard to find and he would constantly arch his back in pain. He would vomit, gulp air making him bloated, and he began to lose weight resulting in EJ needing a nasal gastric tube.

It was scary, I could see that EJ had serious problems, but everyone kept telling me it would be fine. But it wasn’t fine – from 12-24 months EJ was in and out of hospital.

We were transferred to and from Starship Hospital in Auckland, Waikato, and Tauranga hospitals, it was traumatic for both of us. He had multiple surgeries, and while they would go smoothly, he would wake up and his oxygen and heart rate would instantly drop – it was so difficult to watch him gasp for life, he wouldn’t respond to my voice, his lips were cracked and his body floppy and lifeless.

We began working with Ian Hunter and instantly noticed changes in EJ, he wasn’t arching as much and his hypersensitivity decreased, this was achieved through tactile stimulation via massage.

Pictured left: EJ and Ian Hunter

EJ's Story - Interview with EJ's Mum

Pictured above: EJ's siblings with knitted gifts from local knitting groups.

In 2022/23 we introduced you to EJ and his mum Kiley. EJ has five older siblings and one younger sibling and after an early entry into the world, and a number of incorrect diagnoses, he is  the third in the world to be diagnosed with Pyrroline-5-carboxylate synthase deficiency (P5CS deficiency) – ALDH18A1 gene defect. This is a metabolic condition and being 1 of 3 with it means there is very little research of literature available to help him and his whanau.  EJ and his mum have been on their therapy journey since April 2023 and during that time BICT and Doman have been so impressed by Kiley’s determination and understanding when it comes to EJ and brain injury. We wanted to take some time and sit down with Kiley and EJ so we could share more about this journey, a journey we note Kiley was told not to go down, in her words she was told “not to search for wellness for her child”.

We started out talking about the early days with EJ which Kiley said were “hard”.  EJ was born during a COVID lockdown, an isolating time for many but for Kiley entering this new world as a parent to a disabled child, with no support readily available, that isolation was extreme.

She also faced additional barriers because many of the symptoms EJ presented also fitted the category of flu-like symptoms, and so she was constantly having to put him through COVID tests to try and access any support. Kiley, an experienced mum, was thrown into a world she knew nothing about and medical professionals kept telling her the things she was experiencing with EJ were normal, but they were far from normal for her and while she tried to comprehend her “new normal” she was left feeling like she had no voice and was not being understood. It took a year, and weight loss to finally get them in front of a paediatrician. 

Kiley felt like no one understood the level of care and how hard it was to meet that level for EJ, and there was fear also.  Fear that she would be blamed for how EJ was, that she had somehow done something wrong.

We know that things can start to change pretty quickly for the child once they begin their therapy journey but what people don’t realise is that there are wider changes for the family and so we chatted with Kiley about how things have changed for her as a mum now they are on this journey.  Kiley said she feels more focused and having understanding was the top thing for her.

Kiley had spent a lot of time researching and challenging the medical professionals' many false diagnoses of EJ and now she suddenly had explanations that made sense, she didn't need to spend countless hours researching and trying to make sense of it herself anymore which has allowed her more time to be a mum.

Communication for the family has also improved as she could now explain to EJ’s siblings why things were happening, and why EJ was reacting how he was.  She can now explain why he is crying in a different light, and while the kids still struggle with this they are beginning to understand. 

Recently EJ pulled himself up on the sofa and the whole family erupted in celebration, and Kiley was able to say “see that's what we do, we helped him do that, we did that as a family - all of us” and so the whole family is learning to take some of their power back after years of feeling powerless.

We also talked with Kiley about how EJ has changed, though we had a pretty good idea as we watched him crawl off down the hallway.  Kiley said EJ is motivated, he  “wants to get”, he isn’t scared of the world anymore but wants to explore and touch everything, he wants to be out in the world not hiding away at home.  He has so much confidence now, letting go of her hands as his belief in himself is now so great he forgets he hasn't mastered walking on his own yet.  EJ is now able to feel comfortable and safe without needing to be physically connected to his mum all the time, which creates even more opportunities for him to join in with play with Kiley and his siblings and allows her to nurture her connection with all her children in a more balanced way. 

When you have a child with a disability and the future looks so uncertain for them many parents find thinking ahead scary and find it difficult to set short term goals, however Kiley can now plan goals for EJ and begin to dream about what the future may hold for him without as much worry. Short term the goal is to keep working on EJ’s crawling with coordination, increasing his oral food intake to help towards removal of the PEG feeding tube, and increasing his communication skills with the support of Doman and BICT, but long term what Kiley wants for EJ is exactly what he is already doing...

"He's just doing it. He's already doing it – Having confidence and exploring life”

School is now also something Kiley can actually consider. Until recently she had thought this was something unachievable for EJ, however as his younger brother is going to daycare and she is watching EJ take that in, at drop off and pick up times, she can now see that with continued therapy EJ too will be able to share some of the same experiences that his brother is.  Before EJ’s reactions showed fear and anxiety whereas now he is showing “I want to play”.

During our chat we were just in awe of Kiley’s dedication and drive to EJ and her family as a whole, so we had to ask how does she do it all?  Therapy takes a huge dedication from our families and we know that it is a huge commitment but Kylie shrugged it off and said “You can't stop as a mum it's not like a 9-5 job and you just get to knock off …its just something you have to do, overqualified and underpaid”.

Additionally, Kiley doesn't just want to take this knowledge and help EJ, she is sharing what she is learning with her wider whanau in the hope that people's views and approach to brain injury will shift and to challenge previously accepted norms of how children with disabilities and their families are supported.

She hopes that by sharing her story others will gain hope and the mechanisms which currently exist to support children with disabilities and their whanau may shift to be something that actually helps them move to wellness.