Join Amelia's Fight Against Rare Type of Muscular Dystrophy

My name is Sadie. I am the mother of the most amazing 3 year old little girl named Amelia. My husband and I are starting this GoFundMe to help with our medical, travel and equipment expenses, as well as spread awareness of L-CMD.

Amelia (Millie) is such a sweet, sassy, and hilarious little girl. She can brighten a whole room with her laughter and smile. She loves to play and be silly, especially with her big brother, Grayson. She adores animals and helping people and would one day like to become a firefighter.

Up until a few months ago, Amelia was able to get around and play without a care. She then started to become increasingly weak and tired, which then developed into not being able to walk correctly. Millie was starting to complain of leg pain and was beginning to have difficulty with walking and lifting things. Worried about what might have been, we took Millie to see multiple doctors for an evaluation. It wasn't until we established with a new Pediatrician that it was decided that Millie needed to be seen urgently by a Neurologist.

While waiting for our neurology appointment, Millie's weakness began to increase. She was losing strength in her arms and her legs. If she became too tired, she was unable to hold a fork as it was too heavy. She was also tiring after only walking about 15 feet. We were able to get our appointment moved up quickly due to the symptoms Millie was experiencing. Once at the Neurology appointment, the neurologist determined that there was potentially something very serious going on and Amelia was immediately admitted to the Golisano Children's Hospital. The Neurologist ran multiple tests, such as MRIs of the brain and whole spine, multiple blood panels, genetic testing panels, and did a lumbar puncture to pinpoint what was going on. Millie was so brave during all of the tests; we however were all a mess. But she made sure to let us know that she was okay and that she was a brave and strong girl. (While flexing her arm muscles)

On 11/21/2024, we received the results of her chromosome and genetics panel. The results came with news that has forever changed our lives. Amelia tested positive for a very rare type of muscular dystrophy, LMNA-Related Congenital Muscular Dystrophy (L-CMD). We were shocked to find out that there are only around 100 cases documented worldwide.

Our neurologist informed us that because this is not a well-known type of muscular dystrophy, it was hard to know how her symptoms would progress because of the effect it has on the LMNA Gene, which is vital for providing instructions to Lamins which are the big structural component to the nuclear envelope. (See attached link for more information) https://medlineplus.gov/genetics/condition/lmna-related-congenital-muscular-dystrophy/

This diagnosis means that Millie's muscles are wasting away and eventually will cause Millie to lose her ability to walk, but timing was unknown. The muscle wasting can cause Amelia to develop problems her heart, lungs, diaphragm, and throat. The neurologist warned us that Amelia may eventually need breathing assistance and a need for a feeding tube, and she may get to a point where she is unable eat and breathe on her own. We were told that colds or illnesses needed to be taken very seriously, as Amelia might not be able to fight them off on her own. The neurologist did not have much information as to life expectancy but encouraged us to research and start any treatment that we could as soon as possible.

We are now gearing up with tons of referrals to become well acquainted with a team of specialists. Specialists such as a cardiologist, pulmonologist, gastroenterologist, geneticist, physical and occupational therapists and a neuromuscular specialist... just to name a few. Amelia will need more tests moving forward to try and establish a baseline. She is already needing equipment due to her leg weakness (walker & braces) and will need more in the upcoming future.

We are trying to keep our heads above water and stay as positive as we can. It's been a very stressful, emotional, and heartbreaking few months. Any donations made will be used to help with medical, travel and equipment expenses that are coming our way. We are hoping and praying that our little girl can live life as normal as possible and are prepared to do whatever we have to do to make that happen.

Thank you,

Amelia and Family