Help Find a Cure for Adeline

This is the story of Adeline Lienard.  She is the eldest daughter of our cousin, Dennis.  Adeline is one of 12 children in the entire world with a rare disease called SMA-PME.  She is 11 years old.  Doctors have said that she has four years to live.  We are trying to help raise $1.2 million to fund critical research about the disease.


Here is Adeline's story:
For several years, doctors diagnosed Adeline as having learning disabilities, and her illness progressed at a low-grade level.

At three, Adeline started falling repeatedly.  Her parents first thought that it was due to clumsiness.

Around the age of five, her teacher informed her parents of their daughter’s problems with graphics, and not being able to hold a pencil correctly.  At this point, her parents consulted doctors. Their verdict: The young girl was suffering from dyspraxia, dysorthography, and dyscalculia - learning disorders that affect coordination, writing and the understanding of mathematics. This diagnosis did not explain her muscular weakness, nor the tremors that appeared progressively.

At the age of 7, Adeline lost part of her hearing capacity and had to be fitted with a hearing aid.

At the age of 9, she was suffering from dozens of epileptic seizures every day.

Seven different treatments were tried, none of which was able to produce a positive result.

The little girl was accepted in a specialized class. Her muscular weakness progressed, and gradually restricted her autonomy.

At the age of 10, she could no longer run without feeling breathless very quickly, nor could she play tag, swim, or practice horseback riding – her favorite sport.

Henceforth she required help for many daily activities as there was constantly a risk of falling.

The real diagnosis was not found until January 19, 2021: Adeline was suffering from SMA-PME. 

SMA-PME stands for Spinal Muscular Atrophy with Progressive Myclonic Epilepsy.  This rare form of SMA is a neurological condition that causes weakness and wasting (atrophy) of muscles and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy). This is caused by a loss of the motor neuron nerve cells in the spinal cord and in both the brain stem which connects the spinal cord to the brain. 

In individuals with SMA-PME, spinal muscular atrophy results from a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem ). After a few years of normal development, affected children begin experiencing muscle weakness and atrophy in the lower limbs, causing difficulty walking and frequent falls. The muscles in the upper limbs are later affected, and soon the muscle weakness and atrophy spreads throughout the body. Once weakness reaches the muscles used for breathing and swallowing, it leads to life-threatening breathing problems and increased susceptibility to pneumonia. 

Currently, there are only 12 children worldwide with SMA-PME.  Children with this disorder have a life expectancy of late childhood/ early adulthood.  Doctors have given Adeline 4 years.  She is currently 11.

Adeline, who knows nothing about the diagnosis, remains cheerful, effusive, and determined, courageously following a pathway fraught with pitfalls.

As for her parents, they place their hopes in medical research.  Our cousin Dennis said, "It is my life's mission to save my daughter." 

The short-term goal for the research that can help prolong Adeline's life is $1.2.  Our family's goal is to raise $100,000 of that $1.2 million.  Please help in any way you can.