Their Stories
The Fish Family
Lilly (3) was born without complications and when she was about five months old, they noticed she was unable to roll over, crawl, or sit up. They realized she was atypical and that she was going to need a lot of help before they even got a diagnosis.
When she was around nine months old, she was diagnosed with an extremely rare genetic disease called EXSOC-3 Pontocerebellar Hypoplasia. This disease made a big impact on her ability to swallow and being able to eat by mouth. They were forced to understand that she may never be able to move on her own.
For now, their goal is to keep her comfortable. They have no idea what her future looks like, but she continues to light up any room with her bright smile. She may never be able to walk or run, but her family knows that she is meant for bigger plans.
As Lilly continues to grow things get more complicated so they are trying to find more accessible chairs, supports, and technology so that she can do all the things any 3 yr-old would want to do. Her parents are hoping to modify their home to accommodate her various needs by exploring options for an accessible bathroom and mechanical lifts. They also dream of one day taking her on a bike ride with a specialized bike trailer.
The Mackling Family
Franny Mackling is a single mother with two teenagers, Kole (15) and Kaylor (17). Kaylor was born with a very rare chromosome disorder called Duplication 15q Syndrome, which means she has a duplication of the #15 chromosome. She also has epilepsy and autism, making their daily lives very daunting.
Kaylor’s body is physically the age of a normal 17 yr-old, but her brain and cognitive function is that of a 3 yr-old. She has a hard time communicating and transitioning from one task to another, cannot be left alone, has no understanding of danger.
Last year Kaylor was hospitalized for a month due to failure to thrive. She stopped eating, losing 30Ibs in 3 months. She also stopped taking her seizure medication, causing her seizures to go out of control. Kaylor ended up getting a g-tube and regressed significantly in her AOL’s (activities of daily living). Franny ended up having to quit her job in order to take care of Kaylor. The increase in seizure medication has taken a huge toll on Kaylor’s body and they had to get an adaptive stroller to help her get around. Her medications have decreased the frequency of her seizures, but she continues to struggle with her every day life.
Franny continues to prioritize her children and remains hopeful as they continue on their difficult journey.
Their Stories
The Fernandez Family
Leighton was life flighted on Christmas Eve when she was 6 weeks old due to acute renal failure. She spent 2 months in the ICU and was diagnosed with a rare genetic disease that results in complete kidney failure and often leads to Wilms Tumor.
Leighton was discharged from the ICU in March of 2021, with 27 medications, 3 shots a day, 12 hours of dialysis nightly, a feeding tube, and a broviac central venous catheter.
In the past year, the Fernandez family had to give up their small business in order to provide the 24n care that Leighton needed. Every day, she is given medications, dialysis, gastronomy tube feeding, blood draws, PT/OT/Speech therapy, etc. It is hopeful that Leighton’s kidney will grow large enough for either Mom or Dada to donate their kidney.
The Pattinson Family
In 2012, Jeffrey was diagnosed at 6 months old with Rhabdomyosarcoma. After going through several months of chemo, they found that Jeffrey’s tumor was still present, but no longer cancerous.
Unfortunately in 2021, scans revealed that Jeffrey’s tumor had grown and become cancerous again. Jeffrey’s family has now tried 3 different forms of chemo to attempt to reduce the tumor and kill the cancerous cells. They continue to be hopeful and look towards any course of action that could help.
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