Marloes

Hypoxic-Ischemic Encephalopathy (HIE) and BRPF1 Syndrome

My brain injury story begins in the spring of 1980.

It began immediately after my birth which was one and a half to two months premature.

Because it was so unexpected and so quick, the delivery took place at home, without a midwife.
She only came running in (literally) after I was already born.

 

I was blue, limp, and barely responsive to stimulation.
They bundled me up and rushed me to the nearest hospital.
I don't know how long I was there, only that I was.

 

From then on it was a constant visit to the doctor.
It soon became clear that my eyes weren't functioning properly.
I was behind in my development both physically and mentally.
I missed crawling, walking, talking and other milestones. I slept an extraordinary amount of time and tired very quickly. Interaction with other children was difficult and I was frequently bullied.
No matter how many tests were performed, a clear diagnosis was never forthcoming.

 

It wasn't until 2010, partly at the request of an insurance doctor, that I underwent research into the impact of the damage from the lack of oxygen at birth on my physical and mental state.

My mother confirmed that this had never been investigated. The neurologist spoke with me and my mother, ordered MRI scans, and referred me to a neuropsychologist at the hospital for a neuropsychological examination.

 

After reviewing and weighing all the test results, he diagnosed Hypoxic-Ischemic Encephalopathy (HIE)

which meant that the lack of oxygen at birth had indeed caused damage to my brain.

 

It was a relief for me to receive this diagnosis after so many years of not knowing why I am the way I am.
I'M NOT CRAZY! I have a brain injury.

 

My physical and some of my mental limitations have become manageable over time with the help of outpatient support. I have learned where they come from and how I can try to avoid the discomfort they cause as much as possible.

 

A few years later, in 2021, I became stuck in mental health treatment for Complex Post-Traumatic Stress Disorder, which I had suffered from childhood trauma.

This wasn't the first time, by the way.

Because of this, the agency where I was being treated eventually referred me to a Center for Neuropsychiatry where, among other things, they conduct research with people who, like me, repeatedly encounter problems with mental health treatment.

 

A new, comprehensive neuropsychological examination was performed and at my request DNA testing was ordered because the tests I had undergone had taken place in the 1980s and 1990s.

 

Thanks to the new DNA testing, I received another brain diagnosis.

It turns out that I have BRPF1 syndrome.

Unfortunately, not much is known about this yet. Science only began to recognize and acknowledge this syndrome in 2017.

 

What is clear is that even in the womb brain development is abnormal due to this genetic defect.

The BRPF1 gene is located on chromosome 3, and with this syndrome, certain proteins are malfunctioning, meaning the information on this gene cannot be read correctly.

 

My brain was actually damaged even before I was born and the lack of oxygen added to the damage.
I am and will remain slow and tire easily. My stimulus processing and information processing are dysfunctional.
My intelligence profile is what's called disharmonious. While my speech and explanations are higher than average, I score much lower on comprehension and processing.

My eyes do not function properly and my eyelids droop. This is a key symptom of BRPF1.

Maintaining my composure in this life is certainly not always easy, but with a little help from my dear husband, my caregivers, my reborn dolls for therapeutic support (see the image at the top of this page) and a few good friends, I'm getting a little better every day.

My goal is to eventually inform and educate people about living with brain injury in combination with mental health conditions like CPTSD (Complex PTSD).

I started this in 2020 by launching my own website: Hersenwikkels.eu.

Focus on what you can do. At least try something. That is what I would like to advise others.

Love, Marloes

 

 

 

 

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