Jesse was diagnosed with Neurofibromatosis Type 1 (NF1) prior to birth after his mum, Natalie, had an amniotic reduction at 35 weeks. Like so many others, his family had never heard of NF until Jesse’s diagnosis. But, what makes Jesse’s case different to others, is that he also has a microdeletion.
For Jesse, having a microdeletion means that other genes on Chromosome 17 near the NF1 gene are also deleted. A fault with the NF1 gene causes tumours to grow as this gene is important in controlling and stopping cell growth and division. Natalie has been told that individuals with the NF1 microdeletion often experience symptoms of NF1 at an earlier age and develop a higher number of neurofibromas and more serious complications like a higher rate of plexiform neurofibromas transforming into malignancies.
It is important for Natalie to improve awareness about NF and microdeletions, given the complexities that arise and the significant health issues that a microdeletion can cause.
No two cases of NF are the same. NF affects each person differently. It is progressive and there is no cure.
Most people who receive an NF1 diagnosis do not need to have genetic testing and if they do decide to have testing it can be at great expense to them personally.
Natalie believes there needs to be a greater understanding within the medical profession about mutations and microdeletions and how they differ, as many individuals with a microdeletion may also have more significant learning and developmental challenges than the general NF population.
Jesse was born in March of 2018. Since his diagnosis Jesse has also been diagnosed with Pulmonary valve stenosis, which is a heart condition that narrows the pulmonary valve opening and slows the blood flow.
At two years of age, Jesse has never slept through the night, has a sensory food aversion which meant that he was not eating solids until he was close to two years of age and has had significant bowel and abdominal issues.
It was not until Natalie took Jesse to a private gastroenterologist that it was suggested that he likely also has Hirschsprung’s disease- which involved missing nerve cells in the muscles or part of all of the large intestine.
Jesse is currently awaiting his first full body MRI and biopsy to determine the cause of his abdominal issues. Presently, Jesse has not had any confirmed tumours other than subdermal cutaneous neurofibromas, yet he has a team that consists of opthamology, neurology, speech pathology, occupational therapy, gastrologists, cardiology, audiology, paediatrician and an ENT.
NF and it’s unpredictable nature is very overwhelming at times…it’s like a ticking time bomb because tumours can form within my beautiful boy at any time. No child should have to live out their childhood the way NF children do; by being in hospital for long periods of time, having major operations to remove tumours or developing tumours that compromise various areas of their body."
Despite Jesse’s diagnosis, Natalie is determined to remain as positive as she can be, “The support in the community has been amazing. Unfortunately, like all cases of NF, we don’t know what Jesse’s future will look like. But for now, he is an incredibly happy little boy who has the most infectious smile that lights up our lives."