WAYS TO HELP:
Follow Aubrieโs page here. Your love and support mean so much.
Join us when we post about UMDF Energy for Life Walks
If someone in your family has a similar mutation on the AARS2 gene, please contact us at hope4aubrie@gmail.com. We are interested in learning more from other families or partnering together to help raise money for future research.
AUBRIEโS STORY:
Copied from her Facebook Blog which can be found here.
๐๐๐ฏ๐ฟ๐ถ๐ฒโ๐ ๐ฆ๐๐ผ๐ฟ๐
Aubrie Bella Rowland was born on June 18, 2018. Up until 11 months old, Aubrie was a happy & healthy baby with no noticeable signs of serious illness. In May 2019, she started having seizure-like symptoms every time she had a fever. Her eyes would cross, and she had issues holding herself up to sit, stand or walk. She remained alert during each episode and could carry on a conversation with you. As soon as her fever came down, the symptoms would resolve back to normal. She had a slight walking delay, balance issues with frequent falls, low muscle tone, chronic infections, 3 minor surgeries and she is anemic. After about 18 months of trying to get an answer for Aubrie, we received the devastating news of her diagnosis in November 2020.
We left the doctorโs office that day with a huge gaping hole in our hearts. We have experienced many different types of emotions since then - from tremendous sadness, fear, anger, denial, frustration but this quickly turned into a steadfast determination to find a way to help Aubrie - and to stay hopeful. We had to remind ourselves that Aubrie needs us to stay positive.
Right now, most people would not immediately know something was wrong with Aubrie. Many of her symptoms are more obvious when she is tired or sick. Aubrie is a child who has a love for life, always trying to make others smile and laugh, and she has a determination to learn and grow. We will keep going, keep fighting and keep believing in her against what feels like impossible odds.
๐ง๐ต๐ฒ ๐ฅ๐ผ๐๐น๐ฎ๐ป๐ฑ ๐๐ฎ๐บ๐ถ๐น๐
Aubrie lives in Raritan, New Jersey with her parents and her little brother Archer. We also live with our two dogs, Sammy and Falco.
๐ช๐ต๐ฎ๐ ๐ถ๐ ๐ ๐ถ๐๐ผ๐ฐ๐ต๐ผ๐ป๐ฑ๐ฟ๐ถ๐ฎ๐น ๐๐ถ๐๐ฒ๐ฎ๐๐ฒ?
Mitochondrial disease (also known as Mito) is a metabolic condition that effects the way the body breaks down food into energy. If certain parts of the body cannot receive the energy it needs to function properly, these systems can begin to shut down or even fail. It can affect any part of the body. Mitochondrial disease in general presents on a spectrum of mild to severe and we do not know yet where Aubrie will fall.
๐๐๐ฏ๐ฟ๐ถ๐ฒโ๐ ๐ง๐๐ฝ๐ฒ ๐ผ๐ณ ๐ ๐ถ๐๐ผ๐ฐ๐ต๐ผ๐ป๐ฑ๐ฟ๐ถ๐ฎ๐น ๐๐ถ๐๐ฒ๐ฎ๐๐ฒ (๐๐๐๐ก๐ฃ)
There are many types of Mito and some are still to be discovered. Aubrieโs specific type of is a rare brain disease called LKENP (Leukoencephalopathy with ovarian failure). LKENP, is considered a progressive and potentially terminal brain disorder, developing in either children or adults. This type of Mito is caused by the gene AARS2.
Symptoms of LKENP can resemble other neurological disorders, such as Parkinsonโs disease as these diseases both effect the brain. We were told that symptoms can affect the ability to walk, cause balance issues, tremors, eye issues, speech issues, ovarian failure in women and can affect fine and gross motor skills. Some patients lose their ability to speak or end up in a wheelchair or bedridden.
๐๐๐ฟ๐ฟ๐ฒ๐ป๐ ๐ง๐ฟ๐ฒ๐ฎ๐๐บ๐ฒ๐ป๐ & ๐ข๐ป๐ด๐ผ๐ถ๐ป๐ด ๐ฅ๐ฒ๐๐ฒ๐ฎ๐ฟ๐ฐ๐ต ๐ณ๐ผ๐ฟ ๐ ๐ถ๐๐ผ ๐ฃ๐ฎ๐๐ถ๐ฒ๐ป๐๐
There is no pharmaceutical drug or medication to treat Mito. Most of the current treatment prescribed by Mitochondrial specialists depends heavily on diet, vitamins and supplements that have been shown to improve energy production in the body and, therefore, can help prevent symptoms or even progression. The current methods for treatment are focused on symptom management. There are a few drug treatments and potential cures currently being researched that have the potential to save her one day.
๐๐ฐ๐๐ถ๐ผ๐ป ๐ณ๐ผ๐ฟ ๐๐๐ฏ๐ฟ๐ถ๐ฒ โ ๐ช๐ต๐ฎ๐ ๐ฌ๐ผ๐ ๐๐ฎ๐ป ๐๐ผ
You might be wondering how you can help.
Showing love and support is a great place to start. Also, you can get involved.
There is a nonprofit called CureARS dedicated to raising money for research into Aubrieโs rare condition.
๐๐๐ฏ๐ฟ๐ถ๐ฒโ๐ ๐๐ฒ๐ป๐ฒ๐๐ถ๐ฐ ๐ฉ๐ฎ๐ฟ๐ถ๐ฎ๐ป๐๐
Aubrie has 2 genetic variants on the AARS2 gene. This is a autosomal recessive disorder on her nuclear DNA, meaning it was inherited from both Mom (me) and Dad (Chris). Aubrie inherited a mutation c.595C>T (p.R199C) from me and another mutation called AARS2 exon 5-7 deletion from Dad.
If you are reading this and there is someone in your family that has a similar mutation on the AARS2 gene, please contact us at hope4aubrie@gmail.com. We are interested in learning more from other families or partnering together to help raise money for future research.
๐ ๐ผ๐ฟ๐ฒ ๐๐ป๐ณ๐ผ๐ฟ๐บ๐ฎ๐๐ถ๐ผ๐ป
Thank you for your support as we embark on a journey towards the unknown. To learn more about mitochondrial disease please visit https://www.umdf.org/what-is-mitochondrial-disease/
For more information, you can visit the following websites:
- United Mitochondrial Disease Foundation (UMDF), www.umdf.org
- MitoAction, www.mitoaction.org