Aria's Brave Fight Against Leukaemia
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Aria is an extraordinary 3yo Warrior Princess who inspires and touches the hearts of all those around her with her contagious smile, warm and gentle nature and amazing strength, endurance & perseverance.
As many of you may know, Aria has been battling an insidious monster called Juvenile Myelomonocytic Leukaemia since she was only 9 weeks old. After three long years of chemo treatments, watching and waiting, hoping and praying for this evil disease to self-resolve, it has become clear that this is not going to be the case and Aria needs to have a life-saving Bone Marrow Transplant.
Aria will be admitted to hospital on Friday 6th September to have her port changed back to a double lumen central line and will be re-admitted to hospital the week of 23rd September for Chemo/conditioning, followed by Bone Marrow Transplant and a long wait for recovery.
For those of you who don’t know Aria, this is her story…
On 30th May 2016, my daughter Christina and her partner Ryan became the very proud parents of a beautiful baby girl, Aria Marina Marshall.
Aria was born premature at 32 weeks and spent the first 100 days of her life in hospital. Two weeks in the NICU at the Royal Brisbane and Women’s Hospital, then after developing Necrotising Enterocolitis (NEC) she was urgently transferred to the NICU at the Mater Mother’s hospital. Aria had a rough time in the NICU with life threatening infections resulting in multiple intubations.
Aria was only 9 weeks old (1 week corrected) when she was officially diagnosed with Juvenile Myelomonocytic Leukaemia (JMML). Christina wrote a post of the day she received Aria’s JMML diagnosis, you can read her post over on her blog here: Aria's Journey
At 11 weeks old (3 weeks corrected) Aria was diagnosed with Noonan Syndrome. In the preceding 11 weeks she had already been diagnosed with – Sclerocornea, an anterior ectopic anus, thickened heart valves, Multifocal Atrial Tachycardia and Juvenile Myelomonocytic Leukaemia (JMML).
Aria had just undergone her first of what would become many surgeries the day Ryan and Christina received her Noonan Syndrome diagnosis.
Ryan and Christina were taken to a private room to discuss Aria’s diagnosis with her Geneticist. Upon their meeting with the Geneticist, they already knew that Aria had a mutation in her NRAS gene, resulting in her JMML diagnosis. This mutation is very rare for JMML and Noonan Syndrome but, until recently, unheard of in both. It was thought to be almost impossible that Aria could have Noonan Syndrome because it was already known that she had JMML with an NRAS mutation.
Aria’s Geneticist had gone on to test other cells for the NRAS mutation, if the mutation was present in other cells then that combined with her other clinical features meant that she did in fact have Noonan Syndrome. The NRAS mutation was present in the other cells and Aria received her Noonan Syndrome diagnosis.
A diagnosis of Noonan Syndrome is often thought to be a “blessing in disguise” for children with JMML. Children with a combination of Noonan Syndrome and JMML are mostly expected to go into spontaneous resolution without need for intervention. Up until recently we were unsure if Aria would go into spontaneous resolution, but she has required intervention in the form of chemotherapy to help manage her JMML since the day she was diagnosed.
JMML without a Noonan Syndrome diagnosis is an aggressive form of blood cancer that is predominantly treated with a Bone Marrow Transplant. A Bone Marrow Transplant is currently the only curative treatment for JMML with only a 50% success rate. Up until two months ago Aria’s Oncologist and her parents were taking a “watch and wait” approach with Aria. That is, they were monitoring her bloods and when her counts became unstable, she would start another round of chemo and discuss the possibility that she may end up needing a bone marrow transplant.
On Monday, 28th June 2019 Aria’s Oncologist told Christina that it is unlikely her JMML will resolve on its own and were now planning for a Bone Marrow Transplant. Aria completed a round of her regular chemo that week and went on to have another round the week of 22nd July. During this latest round of chemo, they further discussed and booked her in for her Bone Marrow Transplant. Devastating as this news is, Aria is fortunate enough to have a complete match from an unrelated donor and there are no words to describe how extremely grateful we are to this person.
Aria will be admitted to hospital on Friday 6th September to have her port changed back to a double lumen central line and will be re-admitted to hospital the week of 23rd September for chemo/conditioning, followed by Bone Marrow Transplant.
Aria has had 15 surgical and anaesthetic procedures combined in her short life, she has spent her entire life in and out of hospital and has had to adapt to unpleasant situations. Despite the multitude and magnitude of her health issues, Aria has grown up to be a very happy little girl with a gentle and loving nature. She has a great love for music and is highly determined though cautious and likes to do things in her own time.
It is not surprising that Aria has been diagnosed with a global developmental delay. Aria has an Occupational Therapist, Physiotherapist and Speech and Language Pathologist, she has been undergoing these therapies since she was a newborn and works very hard to reach milestones at her own pace. Aria started walking just in time for her third birthday.
Aria is predominantly tube fed, she receives the majority of her nutrition via the tube as she never took to the breast or bottle as a baby and came home from hospital with a Nasogastric tube. Aria now has a gastrostomy button. Aria is non-verbal and uses both key word sign and Auslan as means of communication. Aria makes some sounds and has recently learnt to say “Mum.” Christina is working closely with Aria’s Speech Therapist to get more sounds out of Aria and exploring different forms of communication.
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This doesn’t even touch on what Ryan, Christina and Aria have endured and have had to overcome. There isn’t anything more confronting or soul destroying than watching helplessly as your child fights for their life, and for Ryan and Christina this has been on more occasions than they can bare to recall. It has been an inconceivably turbulent journey, particularly in Aria’s first year of life but also the countless surgeries, procedures, chemo rounds, complications, setbacks and hospitalisations she has had throughout her entire life. Now, as they face yet another frightening and stormy road ahead, all we can do as we watch and wait helplessly while Aria fights one of her biggest battles yet, is hope and pray that her BMT is successful and cures her of this evil disease once and for all.
Christina will be staying by Aria’s side at the Queensland Children’s Hospital for several months, while Ryan will initially be taking 2 days off work a week plus weekends to be by his family’s side. As you can imagine this is going to be an extremely challenging time, emotionally, physically, mentally and financially as they focus on caring for their very sick little girl.
Many of Aria’s supporters will recall that I started a GoFundMe campaign back in 2016 where Aria’s journey began, and while we didn’t reach our goal the money raised was a tremendous help to Ryan and Christina during one of the scariest times a parent could ever have to go through. I have created this new GoFundMe Campaign in the hopes to raise enough funds to help Ryan and Christina with ongoing expenses including medical, travel, fuel, parking, food and to help cover the bills while Ryan takes time off work to be by his family’s side. All donations, big or small will be greatly appreciated and will be a huge help in easing the financial burden so they can focus completely on their beautiful daughter.
I understand that not everyone can offer financial support, so whether or not you are able to make a donation, we would be truly grateful if you would kindly share Aria’s GoFundMe campaign far-and-wide, while keeping Aria and her family in your thoughts and prayers. Sending good vibes and well wishes is always appreciated and is a source of great comfort and strength for this amazing family.
I will be posting updates of Aria’s progress on this page, or for more regular updates please feel free to follow Aria’s journey on her Facebook page here https://www.facebook.com/AriaNRASgene/
As many of you may know, Aria has been battling an insidious monster called Juvenile Myelomonocytic Leukaemia since she was only 9 weeks old. After three long years of chemo treatments, watching and waiting, hoping and praying for this evil disease to self-resolve, it has become clear that this is not going to be the case and Aria needs to have a life-saving Bone Marrow Transplant.
Aria will be admitted to hospital on Friday 6th September to have her port changed back to a double lumen central line and will be re-admitted to hospital the week of 23rd September for Chemo/conditioning, followed by Bone Marrow Transplant and a long wait for recovery.
For those of you who don’t know Aria, this is her story…
On 30th May 2016, my daughter Christina and her partner Ryan became the very proud parents of a beautiful baby girl, Aria Marina Marshall.
Aria was born premature at 32 weeks and spent the first 100 days of her life in hospital. Two weeks in the NICU at the Royal Brisbane and Women’s Hospital, then after developing Necrotising Enterocolitis (NEC) she was urgently transferred to the NICU at the Mater Mother’s hospital. Aria had a rough time in the NICU with life threatening infections resulting in multiple intubations.
Aria was only 9 weeks old (1 week corrected) when she was officially diagnosed with Juvenile Myelomonocytic Leukaemia (JMML). Christina wrote a post of the day she received Aria’s JMML diagnosis, you can read her post over on her blog here: Aria's Journey
At 11 weeks old (3 weeks corrected) Aria was diagnosed with Noonan Syndrome. In the preceding 11 weeks she had already been diagnosed with – Sclerocornea, an anterior ectopic anus, thickened heart valves, Multifocal Atrial Tachycardia and Juvenile Myelomonocytic Leukaemia (JMML).
Aria had just undergone her first of what would become many surgeries the day Ryan and Christina received her Noonan Syndrome diagnosis.
Ryan and Christina were taken to a private room to discuss Aria’s diagnosis with her Geneticist. Upon their meeting with the Geneticist, they already knew that Aria had a mutation in her NRAS gene, resulting in her JMML diagnosis. This mutation is very rare for JMML and Noonan Syndrome but, until recently, unheard of in both. It was thought to be almost impossible that Aria could have Noonan Syndrome because it was already known that she had JMML with an NRAS mutation.
Aria’s Geneticist had gone on to test other cells for the NRAS mutation, if the mutation was present in other cells then that combined with her other clinical features meant that she did in fact have Noonan Syndrome. The NRAS mutation was present in the other cells and Aria received her Noonan Syndrome diagnosis.
A diagnosis of Noonan Syndrome is often thought to be a “blessing in disguise” for children with JMML. Children with a combination of Noonan Syndrome and JMML are mostly expected to go into spontaneous resolution without need for intervention. Up until recently we were unsure if Aria would go into spontaneous resolution, but she has required intervention in the form of chemotherapy to help manage her JMML since the day she was diagnosed.
JMML without a Noonan Syndrome diagnosis is an aggressive form of blood cancer that is predominantly treated with a Bone Marrow Transplant. A Bone Marrow Transplant is currently the only curative treatment for JMML with only a 50% success rate. Up until two months ago Aria’s Oncologist and her parents were taking a “watch and wait” approach with Aria. That is, they were monitoring her bloods and when her counts became unstable, she would start another round of chemo and discuss the possibility that she may end up needing a bone marrow transplant.
On Monday, 28th June 2019 Aria’s Oncologist told Christina that it is unlikely her JMML will resolve on its own and were now planning for a Bone Marrow Transplant. Aria completed a round of her regular chemo that week and went on to have another round the week of 22nd July. During this latest round of chemo, they further discussed and booked her in for her Bone Marrow Transplant. Devastating as this news is, Aria is fortunate enough to have a complete match from an unrelated donor and there are no words to describe how extremely grateful we are to this person.
Aria will be admitted to hospital on Friday 6th September to have her port changed back to a double lumen central line and will be re-admitted to hospital the week of 23rd September for chemo/conditioning, followed by Bone Marrow Transplant.
Aria has had 15 surgical and anaesthetic procedures combined in her short life, she has spent her entire life in and out of hospital and has had to adapt to unpleasant situations. Despite the multitude and magnitude of her health issues, Aria has grown up to be a very happy little girl with a gentle and loving nature. She has a great love for music and is highly determined though cautious and likes to do things in her own time.
It is not surprising that Aria has been diagnosed with a global developmental delay. Aria has an Occupational Therapist, Physiotherapist and Speech and Language Pathologist, she has been undergoing these therapies since she was a newborn and works very hard to reach milestones at her own pace. Aria started walking just in time for her third birthday.
Aria is predominantly tube fed, she receives the majority of her nutrition via the tube as she never took to the breast or bottle as a baby and came home from hospital with a Nasogastric tube. Aria now has a gastrostomy button. Aria is non-verbal and uses both key word sign and Auslan as means of communication. Aria makes some sounds and has recently learnt to say “Mum.” Christina is working closely with Aria’s Speech Therapist to get more sounds out of Aria and exploring different forms of communication.
---
This doesn’t even touch on what Ryan, Christina and Aria have endured and have had to overcome. There isn’t anything more confronting or soul destroying than watching helplessly as your child fights for their life, and for Ryan and Christina this has been on more occasions than they can bare to recall. It has been an inconceivably turbulent journey, particularly in Aria’s first year of life but also the countless surgeries, procedures, chemo rounds, complications, setbacks and hospitalisations she has had throughout her entire life. Now, as they face yet another frightening and stormy road ahead, all we can do as we watch and wait helplessly while Aria fights one of her biggest battles yet, is hope and pray that her BMT is successful and cures her of this evil disease once and for all.
Christina will be staying by Aria’s side at the Queensland Children’s Hospital for several months, while Ryan will initially be taking 2 days off work a week plus weekends to be by his family’s side. As you can imagine this is going to be an extremely challenging time, emotionally, physically, mentally and financially as they focus on caring for their very sick little girl.
Many of Aria’s supporters will recall that I started a GoFundMe campaign back in 2016 where Aria’s journey began, and while we didn’t reach our goal the money raised was a tremendous help to Ryan and Christina during one of the scariest times a parent could ever have to go through. I have created this new GoFundMe Campaign in the hopes to raise enough funds to help Ryan and Christina with ongoing expenses including medical, travel, fuel, parking, food and to help cover the bills while Ryan takes time off work to be by his family’s side. All donations, big or small will be greatly appreciated and will be a huge help in easing the financial burden so they can focus completely on their beautiful daughter.
I understand that not everyone can offer financial support, so whether or not you are able to make a donation, we would be truly grateful if you would kindly share Aria’s GoFundMe campaign far-and-wide, while keeping Aria and her family in your thoughts and prayers. Sending good vibes and well wishes is always appreciated and is a source of great comfort and strength for this amazing family.
I will be posting updates of Aria’s progress on this page, or for more regular updates please feel free to follow Aria’s journey on her Facebook page here https://www.facebook.com/AriaNRASgene/
Organizer
Sonia De Sousa
Organizer
North Lakes QLD
