Baby Brynlee, rare genetic diagnosis.

Update from Larissa;

Wednesday 26th July our beautiful daughter Bryblee Michelle Lewis gave up her 7-month long battle with ALG1-CDG Type 1k. She fought so hard to be with us, harder than any little girl should ever have to fight. Mummy, Daddy and Addison love you with all of our hearts and are so proud of you. Your fight is over and it's time for you to rest our beautiful baby girl. Forever in our hearts and memories.

We have an update on Brynlee from Larissa;

The Drs have given us the prognosis of maybe 24 months with Brynlee with her seizures being uncontrollable and her slowly declining day to day.

We want to try and spend as much family time together despite Harley (Brynlees father) having to go away for 6 months for Army training, these funds will go towards flying him home as much as possible aswell as medical costs and to make as many memories together as possible!

Larissa's story:

At only 5 weeks old our beautiful girl Brynlee was taken to the hospital after raising the concern of seizures,

It was confirmed from an extremely abnormal EEG that Brynlee had been having multiple seizures daily since birth.

Brynlee was then diagnosed with severe epilepsy and we then awaited genetic test results.

Skip forward to April after many hospital visits for a handful of health issues we finally received the results from the genetic testing. It was confirmed that Brynlee had a mutation and was diagnosed with ALG1 -CDG 1k.

An extremely rare genetic condition with only around 50 known cases worldwide.

As there isn’t much information on this specific CDG condition it leaves us with a very unknown future for Brynlee

At this stage we are just loving her the most we can and taking it day by day.

Some things that can be expected for someone with ALG1 CDG are intellectual disability, developmental delay, low muscle tone , uncontrollable seizures , microcephaly (small head size) , failure to thrive aswell as many other health issues.

The signs and symptoms of ALG1-CDG are often severe, with affected individuals surviving only into infancy or childhood. However, some people with this condition are more mildly affected and survive into adulthood.

We are raising funds for Brynlee and her family to assist with ongoing medical costs and to support her family to ensure they can spend as much time together as possible.