Care and Cure for Labrune Syndrome

$18,538 of $20,000 goal

Raised by 149 people in 1 month
Hi there.  My name is Lindsey and I am the mother to 2 of the most amazing girls; Ayva and Halla.  Ayva is almost 15 and is pure sweetness.  She loves and accepts everyone and she is the brightest light in every room she enters.  She has this ability to smile and find strength in any situation.  She is a reminder to me that there is goodness in this crazy world and makes this world a better place.  Halla is 11 and is pure sassiness.  She is hilarious and clever and when she decides she loves you...you know that you are the luckiest person in the world.  Her laugh is infectious and genuine and a sound that you want to hear over and over again.  

They are my whole world.  

They have Labrune Syndrome.  They are 2 of only about 35 people that have ever been diagnosed with Labrune Syndrome.  My girls are the only 2 people that have been diagnosed in Canada.  It presents as progressive calcification and cysts on their brains.  As it progresses it impacts their cognitive capacity, fine and gross motor skills, growth, development, appetite, ability to eat, increased seizures, intense headaches, over all muscle strength, ability to walk unassisted...it just continues to impact every part of who they are without a sign of stopping.  It is a heartbreaking reality.  

Ayva is losing the ability to use her dominant hand, she is having difficulty with her left leg, she very recently (yesterday!) had a tonic clonic seizure that now prevents her from having the independence that she so desperately craves.  She is on medication to manage the seizures but is battling an internal fight that is so hard to watch.  She can’t understand why her body is failing her in this way.  She is constantly grieving the loss of the skills she had and the goals she had previously made for herself.  

Halla is impacted differently and more visibly.  She needs assistance to walk.  She is unable to use her left arm/hand and has minimal strength in her left leg.  She also is on medication for seizures.  She is in a specialized class at school.  Her functioning level is declining quite quickly.  The medication she is on is weakening her muscles and I suspect she will need further assistance with walking or moblilty (walker or wheelchair) soon.  Her body is just not strong enough to do the activities she once did.  She has had open heart surgery and brain surgery...and the likelihood of further brain surgery is very high.  

People have asked over over the years how they can help...my answer has always been “I have no clue”.  This is based on how rare the disease is and how unpredictable it can be.  I have never known what would be helpful or not.  My girls have an amazing medical team that work to help manage some of the symptoms...but there is no cure and no treatment...yet.  

I have been talking with another other parent in the USA who’s son was diagnosed with Labrune Syndrome.  His medical team is out of the Children’s National Medical Centre in Washington, DC...and that team has initiated some serious research.  I have been in contact with the medical team and they are passionately working on treatment ideas!  This is the first sign of hope we have received in a long time.  

So I am hoping to help raise funds to go toward that research.  To help my girls in a way that could potentially benefit them in the long run.  There has to be some way to slow this down and allow the people who have this terrible genetic disease a shot at some normalcy. 

Thank you for reading our story!  Feel free to donate to the fundraiser and share the link with other lovely people.  

Lindsey Switzer
xoxo

#effyouLabruneSyndrome
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Hi all of you lovely people! I wanted to say thank you for all of the support so far! We are blown away that we have made it a quarter of the way to our goal in less than 2 days! It’s so amazing!

I thought I would let everyone know the plan for the funds once this is over. I will withdraw the money and forward every cent to the Children’s National Medical Centre in Washington, DC. That is the medical centre that has started the research.

Another family raised $20,000 and that kick started the research. We are now raising funds to move into the second stage of that research which is creating human cells and brain like tissue with the same genetic disorder to see what causes it. The second stage will begin when the funds raised reaches $30,000. The third stage begins when the funds reach $75,000. That stage involves creating mice with Labrune Syndrome and testing treatment options. At that stage...the children’s national medical centre will partner with a lab in Boston and another hospital in Philadelphia who have had recent success in gene therapy.

So much information! So much hope and possibility!
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$18,538 of $20,000 goal

Raised by 149 people in 1 month
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CD
$50
Chris Dalton
2 days ago
JR
$100
Jenny-Sayre Ramberg
5 days ago
NT
$100
Nick Tinker
5 days ago
CS
$200
Carol Stewart
5 days ago
$50
Anonymous
6 days ago
JS
$100
Julie Stewart
6 days ago
BF
$1,188
Brentwood School Fundraiser
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KS
$100
Kent Sittler
7 days ago
SM
$150
Sean McConnell
12 days ago
SJ
$20
Stacey Johnson
24 days ago
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