Amelia's One Tough Cookie

It all started with a sweet little girl named Amelia. Amelia lived in a suburb outside of Chicago with both parents, one older brother, one younger brother, and two dogs.

Amelia lived a healthy normal life. She was blessed to spend lots of time and adventures with both sets of grandparents. Amelia loves the beach! She was a girl scout, tried soccer, loved to paint, and go on adventures with her family. 

In the fall of 2021, when she was 9 years old, Amelia's parents noticed that Amelia was having a hard time with school and could no longer write her name (although she always struggled due to being left-handed).

The parents brought this up with Amelia’s third-grade teacher, and after a few weeks, the teacher agreed. Testing began and by December 2021 when results were ready Amelia seemed to get worse. Amelia was negative for all learning disabilities and it was decided by the school that Amelia had a cognitive delay and would start special education in January 2022. Amelia’s mother told the IEP team that she did not understand how Amelia could write her name before and used to be able to help her brothers, but now they have to help her. How could Amelia become so different overnight? A lot was blamed on Covid. Who knew, we hoped it was just a response to living through a pandemic. There were no answers, but the school told the family they would make a special education plan for her.

November 2021 – Amelia started toe walking, Amelia’s mom knew that was a neurological symptom because Amelia’s grandmother was a neurology nurse. December 2021 – After a few month's wait Amelia saw a specialist with Luries Children Hospital, who prescribed Ritalin. Amelia’s parents knew it was not a learning disability. They went against that decision and did not give the medication. During this time Amelia’s mom called the pediatrician for further help since the school could not help, and the neurology appointment did not help either. The pediatrician stated they could only refer to Lurie Children’s Hospital and recommended autism testing. Amelia's mom called Lurie Children's Hospital to request a cognitive neurologist appointment and the nurse stated they were not accepting new patients due to a provider shortage and were being told by management to refer patients to the City of Chicago. I told the nurse, “We don’t even live in Chicago.” Amelia’s mom and dad were becoming very frustrated as they knew something was wrong, but nobody could help them. Amelia’s paternal grandmother was a kindergarten teacher and school administrator and she could not help either. 

January/February 2022 – Amelia began to exhibit goofy, sometimes drunken walking with mixed-toe walking at times. Amelia also kept getting sick with the flu or colds during this time.

February 2022 – Amelia’s mom went to visit her retired father in Guatemala so Amelia could spend extensive time with her grandmother with the educational background who was also left-handed like Amelia. Amelia also had autism testing during this time and the testing center stated; that Amelia was delayed due to COVID. When Amelia’s mother came back from her trip, nothing was noted by grandma, and Amelia’s mom grew increasingly frustrated with no one noticing Amelia’s peculiar new difficulties.

April 2022 – Amelia started falling, her legs would give out and she also started falling down the stairs. Amelia started having more staring episodes, was confused and tired which ended up being silent seizures. Amelia’s special education teacher blamed confusion on Amelia staying home from school but Amelia’s mom specifically told the special education teacher that Amelia was having difficulty at home as well and nothing had changed at home. Amelia fell down the stairs Easter weekend and had to go to the emergency room where they stated Amelia broke her big toe. The hospital gave Amelia a boot to wear and said to make an orthopedic appointment that had a two-month wait. I told them we needed a sooner appointment because of the falling, but nothing was available sooner.

May 2022 – Amelia saw an ENT in Naperville IL who tested her hearing, Dr. Stated hearing was perfect, but something was wrong with Amelia’s walking. We had to hold her walking on both sides and she was very wobbly. We hoped it was something vestibular, but struck out again. The last great day before our entire life was flipped upside down was Mother’s Day 2022. We will forever be grateful to our neighbors and friends who planned a surprise Mother’s Day brunch! 

Thursday, May 12, 2022- Amelia’s legs gave out and she could not walk. When Amelia’s dad got home from work, they took Amelia out of state to the UW Madison WI Children’s Hospital because no doctors or testing specialists in Illinois knew what to do. Amelia was seen right away and an MRI was ordered immediately. The neurology doctor that was on call ran into the room and stated it was very very bad. She continued to say the words Metachromatic leukodystrophy, but we just looked at her because we had never heard about this horrible disease before. After months of struggling to find an answer, Amelia was diagnosed with a terminal brain disease, Juvenile Metachromatic Leukodystrophy (MLD). There are over 40 types of variants of leukodystrophy and Amelia has one of the worst forms.

We tried not to completely lose control as our baby girl was admitted to the hospital.

The next two weeks in the hospital were a complete blur as the amazing Doctors, nurses, therapists, social workers, Chaplin, geneticists, and psychologists helped us get through the initial shock and devastation and come up with a plan for Amelia.

This was just the beginning of a long journey full of struggles and moments of joy. Our experience has inspired us to form The Hope Project for Kids nonprofit to help other families who have a kid with a rare disease find the help and resources they need, and create a community so that families going through similar journeys know they aren't alone. That they have a community of people who are there for them and who understand what they are going through.