Our Stories

Our journey that led us to Neurofibromatosis NF1 began in 2015. Our son Noah was diagnosed when he was 3 years old. Prior to the NF1 diagnosis there were many challenges & concerns we had about our son’s overall development which led us to a diagnosis of NF1. We started investigating these concerns when Noah was only three months old. He was not meeting any of his milestones. He had extremely bad reflux as a baby, his back would stiffen up like a board, he had challenges with feeding & eating as he grew. He had his first ear infection when he was a couple of months old. He would not respond to his name or like to interact with anyone. He didn’t like to be swaddled or cuddled into us either & was more than happy to be in his own bubble. He also had a very high pitch tone where he would just sound it all day long. He had extreme sensitivity to everything around him including visual & audio which caused him to get so distressed that he would be sick. He was a child of his own agenda too. He didn’t like to play with toys, he just loved all types of music especially classical, numbers, maps & listening to nursery rhymes in many languages too. He had no speech & needed constant supervision 24/7. We knew something wasn’t right.

We have two other children who are teenagers now but the experience of them as babies was the complete opposite to Noah. There were so many red flags. It was such an extremely worrying time for the whole family. It’s hard to hide your worries & anxieties from your other children too as you don’t want them to be upset or worried too with all this uncertainty. There were & still are so many sleepless nights, so many what ifs, so many questions going round & round. My gut instinct was screaming at me something was not right. In 2014 Noah had just turned 2yrs old. After multiple disciplinary team assessments Noah was diagnosed with Autism, Non-Verbal, Global Developmental Delay, Sensory processing disorder & a mild to moderate intellectual learning disability. He required Early Intervention Services which consisted of Speech and Language Therapy, Occupational Therapy, Physiotherapy & Phycology. He was so young to be diagnosed at 2yrs old but there was no denying it. We had an idea in our minds about Autism but saying it out loud was so painful & then getting it officially diagnosed was heart-breaking. What did this mean for our son? Will he get the supports he needs? Where are the supports? How much support will he need? Where will he go to school? Will he need a special school? Will he make friends? How will his siblings feel when we explain it to them? Lots of questions but at the end of the day Noah was still our Noah with his beautiful curly blonde hair, infectious laugh, a smile that would brighten any day & his little ways of doing things that made so much sense to him. He was still Noah. You can get lost in a lot of negative thoughts but you need to remember a diagnosis doesn’t change or define who your child is.

We still had concerns about Noah’s hearing as he was having recurrent ear infections & after further investigations, he was diagnosed with a mild hearing impairment & required hearing aids. He was unable to tolerate the hearing aids due to his acute sensory challenges & intellectual disability. Noah also had an aversion to feeding & was sick at most mealtimes. The stress of your child not eating is another level. Noah’s weight wasn’t affected by his little to no food diet. He practically lived on milk and still does. All his food must be mashed very well, in the same bowl & he uses a special handle to help with holding the spoon. He eats three to five teaspoons of food a day no more sometimes none but we have milk to fall back on. Readybrek, Rice pudding, vegetables & fish is all he eats. It’s a good diet but the amount is tiny. Milk is practically his diet. We have still so many unanswered questions & no supports from healthcare professionals around Noah’s feeding issues & he is 10yrs old now. His weight has not been affected but it doesn’t need to be for certain eating disorders which we have raised concerns about many times. It’s heart-breaking when you are constantly told it’s a sensory issue. Our son has never eaten a sweet, chocolate, crisps, ice cream nothing like this at all ever. He will not eat any kind of hard or crunchy food it must be all soft and mashed up well. He cannot eat in the same room or at the same table as the family. It needs to be a very quiet setting with no disruption. Any audio, smell or visual distraction could cause him to gag & be sick. He has never ever held food in his hand. He avoids food as much as he can. Mealtimes are the most stressful times of the day. Noah would be happy to never eat again. He sees it as a chore. He does not like eating but still does not meet the criteria for a feeding clinic for support. It’s baffling he clearly has feeding difficulties & he does not like food at all. We don’t go out for dinners as Noah cannot cope surrounded by different foods on top of noise & lots of people. It’s so overwhelming for him. We take his food he eats with us if going on a car journey. We are still having investigations around his feeding. Some children with NF1 eat only a limited range of foods and have a very restricted diet, unwilling to try new foods or viewing foods with suspicion. Some children with NF1 seem to choke easily or have difficulty chewing and swallowing & they may be very slow to eat their meal.

In 2015 at a routine Paediatric apt concerns were raised around Noah’s kidney size & after a referral was sent to a Nephrologist & an ultrasound was performed, we got further bad news that Noah had kidney disease on both kidneys & will need to attend Nephrology to monitor going forward. It was this Nephrologist who had more concerns about Noah, taking his overall development into account too. He referred Noah for an MRI Brain scan. This MRI revealed there were white lesions chiari malformation on the brain. The Nephrologist said further investigations will need to be done considering the kidney findings & now the MRI Brain results. He discussed the possibility of a rare disease called Neurofibromatosis NF1. Not in a million years did we think we’d be discussing such a thing. We never heard of this disease. Again, we were heartbroken once more we just felt Noah was never getting a break ever. It was one thing after the next a viscous cycle. Noah was then referred to Ophthalmology to have eye examinations. These all had to be done under general anaesthesia as a correct reading would not be possible with Noah awake as with his ASD & anxiety, there was a high chance being in a hospital environment would overwhelm him. Ophthalmology revealed Noah’s vision was affected too & he needed to wear prescription glasses. He also had lisch nodules. Lisch nodules are the most common ocular manifestations in NF1 They are small pigmented iris tumours which can also help suggest the diagnosis of NF1 as they are a characteristic of the disease. The more tests that were carried out the closer an NF diagnosis was becoming. Noah was also referred to a Dermatologist for his skin to be examined under a Wood lamp. Wood lamp examination is a test that uses ultraviolet (UV) light to look at the skin closely. Noah had two brown/Cafe au lait spots around the groin area & on his hand. Although they are common, they are also considered one of the criteria for diagnosing NF1. We never thought anything of these skin faded patches other than they were a type of freckle or birth mark. We still had no idea what all this meant for Noah & what was to come.

Our final referral was to Genetics to carry out the genetic testing. All the genetic results came back at the end of 2015. We had our apt with our Nephrologist & he confirmed Noah had tested positive for Neurofibromatosis NF1 Type. My husband & I were stunned & literally sat in silence, we couldn’t say a word. As it is a rare genetic condition my husband & I would need to be tested too. We were given information booklets on Neurofibromatosis NF1 & sent on our way. We felt completely lost. My husband and I had genetic screening for NF1 & thankfully we were both negative. So, this meant Noah was a new mutation of NF1. Our other two children did not need to be tested either. We started to research NF1 & what it all meant for our son. We soon discovered the uncertainty of NF1 and the many different ways in which it could impact our son in terms of medical symptoms, his appearance, healthcare support, accurate medical monitoring, what type of education and the psychological impact. We were so concerned as Noah already had so many complex needs & was nonverbal. We knew absolutely nothing about NF1 when Noah was first diagnosed and to say it was a shock is an understatement. NF1 has caused huge uncertainty and concern about our son’s future. You constantly say in your head “what does the future hold?” Will it be mild or bad? Will our son fit in? Will we get the correct treatment? Where are the NF experts? Our Geneticist told us our son did not present with the classic symptoms of NF1 so he said it was surprising for it to be genetically confirmed but at least we now had answers. We now know every single person with NF1 presents differently. We learnt that ASD is also common in children with NF1, with approximately 25% of children demonstrating mild-to-moderate ASD symptoms, and nearly 15% of children exhibiting severe ASD symptoms. ADHD is also common in NF1 with cognitive and behavioural deficits. Noah was also diagnosed with ADHD in 2022. We have also learnt that Neurofibromatosis type 1 (NF1) affects hearing through disruption of central auditory processing which explains Noah’s mild hearing impairment.

In the beginning, just after Noah was diagnosed, we would constantly monitor him for signs & symptoms of NF1 and we worried so much about the worst-case scenario. As Noah is nonverbal it was so much more concerning as we worried did he have any pain anywhere & couldn’t tell us as he had no speech. It was just so hard to read the signals. We felt so alone, so alien to this condition. It took so long to process it all. As time went by, we fought to get Noah the therapies he needed (we are still fighting in 2022 to get practical therapies) & tried to manage the uncertainty of this rare disease NF1. It came to a stage where we learnt to accept it, there was no cure & that we needed to take it slow, day by day & also be present with our son in every way possible & not miss out so much with the worrying. Easier said than done. We also had to think the worst case scenario may not happen. We needed to have hope. It was important that we carry on with making life as normal as possible for our other two children too. We just had to do the best we could. We were still educating ourselves about NF1 too.

We were concerned about the impact NF1 might have on our son’s appearance too as he grew older. The first thing we did after diagnosis was search with Dr Google & it was the worst thing we could have done. We know that now & have learned from it. But we had no proper support or guidance from anybody upon diagnosis so we did what every parent would do, researched & started advocating for our son. We worried if very noticeable symptoms appeared like plexiform neurofibromas (tumours that form in the tissue that covers & protects the nerves) which can occur anywhere in the body outside of the brain & spinal cord. How would Noah physically feel, what would his understanding be, how could we explain to him & how would we be able to manage other people’s reactions. We also discussed the possibility how difficult it would be for us to see our son looking different to others. It caused a lot of distress & great concern for us. It was extremely difficult trying to explain as much as we thought our other two children should know about their brother’s condition. They were only 11 & 9 at that time of diagnosis. They are amazing with their brother & kill him with so much kindness. It’s very sad at times as Noah doesn’t like anyone in his space & all they want to do is hug him & play games or football but Noah has absolutely no interest & likes to be by himself.

Our whole life has changed since our son’s diagnosis of NF1 & the other complex diagnosis’s. My diary is now full of hospital apts, therapy apts, seminars, workshops & constantly researching & advocating for the correct monitoring of NF1 in Ireland, researching outside Ireland & what our son needs & is entitled to. This has been so unbelievably difficult as unfortunately we have learnt in Ireland there is very little knowledge of this condition & trying to find the experts to help you is next to none. We have had to educate ourselves so much that we bring what guidelines we’ve researched & learnt to the medical professional apts. This puts so much extra strain on top of everything making sure all your child’s medical correspondence is up to date. I decided to give up my career to become our sons full time career as it was impossible to be in full time employment & be able to manage the time for so many hospital appointments, therapies & Paediatric apts. I also felt I wanted to do more for our son. We were his only advocates. I also needed to be available to my son 24/7 if something arose in school for example & if he needed me, I had to be there. Even giving up my full-time career was a huge change for me. Life had just completely changed for us all.

In 2018 when Noah was 6yrs old he had another MRI Brain scan & he was diagnosed with a lowgrade tumour of the optic nerve chiasm. These tumors can occur before the age of seven and are particularly frequent in 15 to 20% of children with Neurofibromatosis Type 1. Their management includes monitoring observation, surgery, chemotherapy and radiation. Optic nerve gliomas are benign (non-cancerous) brain tumors that grow on the nerves that carry vision from the eyes to the brain (the optic nerves). This was so worrying about our son’s vision & what did it mean. It was devastating to be given this news. Noah has Opthalmology reviews every six months now & a yearly eyesight examination under general anaesthesia. We felt our son was never getting a break from this condition NF1. We call it a very sneaky condition that just keeps creeping up for us. All Noah’s complex issues were being driven by the NF1 conditions. Currently our son is being closely monitored for this low-grade optic glioma tumour & his last MRI Brain in June 22 revealed it is stable which is very welcoming news however repeat MRI Brain scans will be carried out on a yearly basis due to the uncertainty of NF1. The anxiety & worry for us is always there in the background. We dread every scan. It’s something we call scanxiety. In April 2022, Noah was diagnosed by an Orthopedic Consultant with progressive Dystrophic Scoliosis which is one of the biggest bone malformations in NF1. Unfortunately for our son spinal fusion will be required. This Surgery to correct a dystrophic scoliosis curve can present special challenges. These surgeries also carry a risk of non-union due to NF1 & as a result more than one surgery may be required. Our son has an extremely challenging year ahead. There will be many pre operative assessments carried prior to the surgery & it will involve a team of multi disciplinaries. We are so concerned about this operation but also how a mammoth operation like spinal surgery, could pyschologically impact Noah with his extra complex needs ASD & intellectual disability. His overall wellbeing is of huge concern. We have learnt NF1 has affected our son’s overall development cognitively & physically in many ways. It is of utmost importance that he has the correct medical management for NF1 throughout his childhood & into adulthood. Currently the services are just not available.

We reached out for support to other parents with children with NF1 through social media platforms & this was how we found out about an NF1 Clinic in Tallaght Hospital unknown to us that it was set up in 2015. This clinic should be a one stop clinic for NF1 patients where children could be seen by a Consultant Paediatrician, Opthamologist, Orthoptics, Neurologist, Neurooncologist, Occupational Therapist, Endocrinologist, Orthopedic Consultant & a Neuropyschologist. There are many different doctors required to monitor NF1. Unfortunately, these are not available at present & it’s extremely worrying for our sons & all in Ireland with NF1 & their future medical management. We are currently advocating for all children with NF1 that this clinic be vastly improved & that it is granted what it needs, what our children need & deserve. It’s devastating having to actually explain what they deserve.

The NF Association of Ireland & NF Support Group have been absolutely amazing support to us & our son & we have learnt so much more about NF1. We have met so many parents whom are all on this NF1 journey. We all have so much in common yet all our journeys are different. It really provides a safe space & a feeling of not feeling so isolated. One thing I would recommend to anyone starting this journey is to seek the support of the NF Association of Ireland, the NF Support Group & it’s amazing members. Often, caring for your complex child seems to leave little time for anything else. It is so important to remember that taking care of yourself and your relationships with others are two of the most important things that you can do for yourself & your family. Practice compassion for yourself, your child & your family. Learn as much as you can about your child’s diagnosis and the issues that you may face together as a family. Try to remember that parenting is not the cause of your child’s difficulties, but it can help lessen the impact of the symptoms. Keep a “disability perspective,” to help shape your responses to your child, this perspective means being sensitive to the needs and abilities of your child. Our son Noah is the happiest most placid beautiful little boy. He is doing extremely well at the moment. He attends a fantastic special school for children with Autism. We are blessed to have the support & understanding of his teachers & Special needs assistants. He is an absolute fighter & with everything he goes through on a daily basis he never ever ceases to amaze us. He is our NF1 Hero, we absolutely adore him & are so proud of him. Please God one day a cure will be found for NF. We will continue to be our sons voice & advocate. Please remember to the newly diagnosed that you are not alone. It’s so important that all families with NF1 know they are not alone. Reach out.

Thank you for reading our story.

Victoria & Stuart Murphy