Julian’s Story: A Rare Diagnosis, an Extraordinary Little Boy

Our son Julian lives with an extremely rare chromosome disorder called 9p Deletion Syndrome.

But before I tell you about the diagnosis, the doctors, the seizures, the therapies and everything that comes with raising a child with a rare condition, I want you to know who Julian is.

He is our son.

He is a little boy who has had to fight harder for things most of us never have to think about. He has taught our family that progress cannot always be measured against a textbook or a developmental chart. Sometimes progress is something incredibly small to the outside world and absolutely enormous to us.

And Julian has surprised us again and again.

Our Journey With 9p Deletion Syndrome

9p Deletion Syndrome is caused by missing genetic material from the short arm of chromosome 9. Because it is so rare, there isn't a simple roadmap telling parents exactly what to expect.

For families like ours, that means learning as we go.

It means specialists, assessments, therapies and tests. It means celebrating progress while constantly wondering what the next medical or developmental challenge might be.

Julian's development has required additional support, and communication has been one of the areas in which he has faced significant challenges. Yet he has continued moving forward in his own way and at his own pace.

Julian's Experience With School

In 2023, we took what should have been an exciting step in Julian's development and enrolled him in school.

As parents of a child with additional needs, placing your child into someone else's care requires an enormous amount of trust. You hope they will be protected, understood and given the opportunity to learn alongside other children.

Unfortunately, Julian's experience was very different.

During approximately a year at school, Julian experienced severe bullying. The situation became serious enough that it ultimately resulted in a significant court case.

After everything that happened, we made the incredibly difficult decision to remove Julian from school.

He is currently not attending a school because, before anything else, we need to know that our child is safe.

Education matters enormously to us, and we want Julian to have every opportunity to learn, develop and experience the world. But no educational opportunity is worth placing him somewhere we cannot trust that his vulnerability will be recognised and his safety protected.

Our hope is to eventually find an educational environment that understands Julian's needs and gives him what every child deserves: the opportunity to learn without fear.

The Medical Side of Julian's Journey

One of the most frightening parts of Julian's medical journey has been his seizures.

They have returned, and watching your child experience a seizure is something no parent becomes accustomed to.

We have previously experienced a seizure lasting approximately six minutes during which Julian became cyanotic, meaning he began turning blue due to inadequate oxygenation.

Those minutes felt endless.

With the seizures occurring again, we need to investigate what is happening and ensure that Julian receives the appropriate neurological care and monitoring.

However, because 9p Deletion Syndrome can affect multiple systems in the body, his medical needs extend beyond neurology.

We are working toward obtaining comprehensive assessments and investigations that may include neurological consultations and testing such as EEG and brain imaging where medically indicated, cardiac investigations, abdominal imaging, hearing and ENT assessments, ophthalmology assessments, sleep studies, genetic consultation and ongoing therapy reviews.

The purpose is not simply to complete a list of tests.

It is to understand Julian's body as thoroughly as possible so that problems can be identified, monitored and treated appropriately.

What Julian Needs

Our goal is to give Julian the best possible chance to develop, communicate, learn and live as independently and safely as he can.

Funds raised through our BackaBuddy campaign will help us work toward his medical assessments and specialist care, while also supporting his developmental and everyday needs.

Depending on professional recommendations and the funding available, this may include therapy, sensory and developmental equipment, appropriate home adaptations where required, specialist appointments and investigations, suitable caregiving support and, ultimately, access to an educational environment appropriate for his needs.

For a child with complex needs, these expenses do not happen once.

They continue as the child grows.

Why We Are Sharing His Story

Asking people for help is not easy.

But advocating for Julian matters more to us than our pride.

We are sharing his story because rare disorders desperately need awareness.

Somewhere there may be another parent who has just heard the words “9p Deletion Syndrome” for the first time and has absolutely no idea what comes next.

We know that feeling.

We also know how important it is to find people who understand.

That is why being connected with organisations and families within the rare chromosome community means so much to us.

If sharing Julian's story helps another family feel less alone, then his story has already achieved something important.

And if people are able to support his campaign, share it, or help us reach organisations and professionals who may be able to assist him, every one of those actions brings us closer to giving Julian the support he needs.

More Than a Diagnosis

It is very easy for a child with a rare condition to become a collection of medical terminology.

• Chromosomes.

• Seizures.

• Developmental challenges.

• Specialists.

• Therapies.

• Tests.

But none of those things tell you who Julian is.

Julian is not 9p Deletion Syndrome.

He is a little boy who happens to live with it.

He is someone's son. Someone's brother. A child growing up surrounded by a family that will keep fighting beside him for as long as he needs us.

We don't know exactly what Julian's future will look like.

Rare conditions don't hand parents a roadmap.

So we will continue doing what we have done from the beginning: take it one appointment, one milestone, one difficult day and one incredible victory at a time.

And we will keep carrying him forward.

Supporting Julian

Julian's family has created a BackaBuddy campaign, “Help Julian Thrive – A Brighter Future,” to help fund his medical investigations, specialist care, therapies, equipment, educational needs and other support associated with his condition.

BackaBuddy campaign:https://www.backabuddy.co.za/campaign/help-julian-thrive-a-brighter-future

If you are unable to donate, sharing Julian's story and helping raise awareness of 9p Deletion Syndrome is also an incredibly meaningful way to support him.

From our family, thank you for reading about our boy.

Thank you for seeing the child behind the diagnosis.

And thank you to every person who helps us give Julian the opportunity to keep moving forward.

With love, Julian's family