Bridging Gaps in Rare Genetics: Ring 14 Syndrome

Our Story:

Hello, my daughter Charlie started having seizures at two and a half months of age. She went through a spinal tap and a battery of tests to figure out nothing. We thought and hoped it was a one off until she passed out in the car at six months while I was driving to daycare. I couldn't get her to wake up and pulled her limp body from her car seat to try to save her. She ended up being unresponsive for an hour's time and when the ambulance drove away after 15 of the worst minutes of my life, I didn't know if she was going to live. She had had another set of seizures. After several days battling doctors who treated us like we were the villains because we wouldn't let them puncture another hole in our baby's spine, we were able to go home only for it all to happen again three weeks later, only worse. After a couple dozen major seizures and over 48hrs of nearly continuous seizure activity and relentless clusters, doctors finally got some medical control and diagnosed her with epilepsy. We were both relieved to see her small body relax due to heavy medication, but shortly after we received the news that she had among the rarest of syndromes and would be living with us for the remainder of our lives.

We didn't really grasp the severity of it all until we visited ring14usa.com and watched the welcome video. It shattered us. There on the screen was a beautiful young girl who obviously had lived a very challenging life. We thought no, that is too much and Charlie hasn't shown any delays or struggles apart from the seizures, but as the video ended, a picture of the young girl as a baby appeared and she looked just like our Charlie. We suddenly felt the wave of pain wash over us for our little girl and ourselves. We could feel the future struggles creep into her path and push the old life away. No teaching her how to drive, no dropping her off at college, no walking my daughter down the isle. I spent the next several days mapping out all the genes affected and their potential pathologies only to find that she is missing the genetic tools to prepare for blood cancer, respiratory infections, cognitive functions, and so much more. I hate talking about this. I hate asking for help. I hate everything about this, but we'd do anything for her so here we are.

I'm now a parent on a mission to change the world of rare genetic disorders.

Our Challenge:

I am going to get my Masters in Human Genetics and Genomics and sending 25% of the requested amount to Ring14 USA. I already have a MS in Cybersecurity, so why would I want to get another one in a separate field? Imagine finding out that your child has a life altering condition and almost nobody is researching it. Ring 14 Chromosome Syndrome is not just rare; it's about 200 people out 8,100,000,000 rare and presents unique challenges. Traditional medical support is limited, and research is scarce. Our geneticist knew nothing about it beyond the technical description. Our current location is too far from help and that level of help is only in so many places. My family needs to move for access to a dozen+ specialty doctors, we are selling our house, and my wife is seeking medical training to better care for our daughter. This drastic change significantly impacts our finances, making it challenging to afford the education I desperately need to make a difference. The parents before us carried the same torch, and now I am reaching for it.

My Mission:

In the world of rare genetic disorders, often the research and advancements are driven not by large-scale institutional efforts but by individuals like me who are personally affected. My child's condition is one such disorder where parents and caregivers are at the forefront of advocating for and advancing research. If not me, then who? Pursuing a Master's in Genetics with a certification in advanced genetic topics is not just an academic endeavor for me; it's a necessary step to contribute meaningfully to the research and understanding of our children's condition. You are investing in both the future and current states of ring 14 care. My aim is to further bridge the gap between the scientific community, rare genetic disorders, and the families they affect by leveraging my education in genetics to spearhead research initiatives and collaborate with genetic experts globally. I don't know what the right answer is, nobody does, but I won't watch my daughter or others suffer if I can do something about it.

Why I Need Your Help:

We’re in a tough spot financially – too much income for aid, but not enough to afford this timely and crucial education along with medical expenses. Your support will help cover my educational expenses so I can get started asap as well as contributing $14,000 to Ring14USA, an organization dedicated to this cause as some of the original torch-bearers. I will get this degree regardless of debt or time, but you can make it faster because my baby might not have that time.

Every Contribution Matters:

Your investment in my education is also an investment in the larger mission of bringing attention and resources to conditions that are often overlooked. This support is crucial in empowering individuals like my wife and I to make a tangible difference in the field of genetics, especially for those disorders that lack visibility and advocacy.

$35 dollars is a meal

$70 is a tank of gas

$1000 pays for entry (Prereqs)

$10000 gets me through a semester

$20000 pays for half the degree

$39,600 covers a MS in Human Genetics

$43,075 covers the MS and Advanced Topics in Genetics from Stanford

$57,075 covers the MS, the Stanford Cert, and provides vital help through Ring14USA (ring14usa.com)

Your donation is an investment in a future where rare genetic disorders like my daughter's get the attention and resources they desperately need. With your help, we can provide a voice and care for those who, like my daughter, may never be able to speak for themselves.

Together, we can continue to create a world where no family feels alone in their fight against rare genetic disorders. A fight started well before me by brave people. Thank you for your support and for being a part of this vital journey.

Sincerely,

Anthony, Father of "Princess Petunia"

Siobhan, Momma

Our two sons

And my daughter ❤️

Please consider visiting btg14.com to discover how your donations will make a difference.

"Ring14 is a very rare genetic disorder caused by a mutation in the 14th chromosome. The ends of the chromosome fuse together, forming a ring structure — hence the name “Ring14 syndrome.” Genetic material is often, though not always, lost from this mutation, but serious health consequences tend to result either way.

Symptoms of Ring14 vary from person to person, but they are usually very significant. Some of the most frequent symptoms include:

low muscle tone,

slow growth,

mild to severe learning disabilities,

limited motor skills,

digestive problems,

immune deficiencies, and

a severe form of epilepsy that is mostly drug resistant.

Daily life is a struggle for these children. Children with other anomalies on the 14th chromosome (such as the deletion or translocation of chromosome parts) tend to share many of these same problems."

-Taken from Ring14USA's website

https://ring14usa.com/index.php/mission-and-vision/

(We are not affiliated, but support the organization)