Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

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Cristian's 8th Birthday

   About Cristian Manuel Fernandez (June 29, 2010- October 14, 2017)

Cristian Manuel Fernandez was born on June 29, 2010, a seemingly perfect, healthy and beautiful baby boy. God entrusted this precious child to devoted parents Alejandro and Gilda Fernandez.  On March 27, 2012, at almost 2 years old, they received the worst news that any parent can get - that their beloved son had Tay-Sachs Disease which is a devastating degenerative neurological disease that robs children of their ability to move, see and hear.  Life expectancy is normally 4-5 years old, however, Cristian’s amazing strength and perseverance, along with the courage of his parents carried him through a 7 year battle with Tay-Sachs Disease.  Cristian received his angel wings on October 14, 2017.
Cristian loved spending time with his family and created many enduring memories. He never missed an opportunity to dress up in costume with his siblings and cousins. He enjoyed bath time with daddy, lullabies and constant cuddles and kisses from his sisters. In the summers he could spend hours relaxing on a playground swing, swimming pool, or simply enjoying the feel of the ocean breeze against his face. Although his lips never uttered a single word, he spoke volumes through his gentle blue eyes. His mommy understood him deeply and he adored her. His daddy was his superhero and unconditional friend. Both were constantly by his side.
Cristian touched and inspired the lives of every single person who had the privilege to have known him or even know of him. He made them ALL better people. He brought families closer together and taught us to appreciate each day and each other. He will be dearly missed, but will forever live in our hearts.  Please join us in honoring him by making a donation to help fight Tay-Sachs Disease so that other children do not have to go through what he did.

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Adeno-Associated Virus (AAV) Delivery Routes

1) Intraparenchymal Delivery of AAV
Intraparenchymal, also referred to as intracranial, refers to directly injecting AAV vectors in to the brain parenchyma, or brain tissue. This strategy allows targeting of specific brain regions, such as highly interconnected white matter tracts or specific brain nuclei, and occurs within the blood-brain barrier. The number and location of injections, the vector serotype, and properties of the enzyme will determine the spread of the treatment throughout the central nervous system (CNS, brain and spinal cord). Due to directly injecting brain tissue there can be unfortunate effects such as hemorrhage. This was the strategy used in an early Canavan trial in which AAV2 was delivery in six cranial burr holes (

2) Intra-CSF Delivery of AAV
Delivery of AAV into the cerebrospinal fluid (CSF) can be performed in the brain or the spinal cord. CSF delivery avoids directly injecting brain tissue yet still occurs within the blood-brain barrier.

Intracerebroventricular (ICV)- ICV refers to delivery of AAV into ventricles, or large cavities in the brain that hold CSF. The largest and most common ventricles to target are the lateral ventricles. Each cerebral hemisphere, left and right, contains a lateral ventricle.

Intra-cisterna magna- also referred to intrathecal at the cerebellomedullary cistern, occurs at the top of the spinal cord, or the space between the bottom most part of the brain, the cerebellum, and the top of the spinal cord.

Intrathecal (IT)- also referred to as lumbar intrathecal, occurs at the bottom of the spinal cord. Lumbar intrathecal delivery is considered the least risky of the CSF delivery routes; however, the AAV vector has the furthest to travel to reach the brain. This is the strategy being utilized in the Batten disease (CLN6) clinical trial (

3) Intramuscular Delivery of AAV
AAV can be directly injected in to muscle for diseases that primarily affect the heart and/or skeletal muscle. This strategy is being utilized in the clinical trial for the lysosomal storage disease Pompe disease (

4) Systemic/Intravascular Delivery of AAV
Systemic or intravascular is delivery of AAV vectors directly to the blood system. Certain serotypes of AAV, such as AAVrh8, AAV9 and AAVrh10, have the ability to cross the blood-brain barrier. Those serotypes can be used for systemic/intravascular delivery to target systemic disease as well as the central nervous system (CNS, brain and spinal cord). The procedure itself is non-invasive; however, a larger volume of AAV vector is required and the amount of vector that reaches the CNS is typically less than targeting the CNS directly. High levels of vector and enzyme can also be found in specific systemic tissues, such as the liver, due to delivery in to blood circulation.

Intravenous (IV)- most commonly systemic/intravascular delivery of AAV vectors is done through a venous catheter into a limb vein. This is the strategy being utilized for the MPSIIIA, or Sanfilippo syndrome, clinical trial (

Intra-arterial (IA)- there are ongoing studies in animal models, although no human clinical trials, evaluating delivery of AAV in to arteries instead of veins. The most common arteries being investigated are the carotid and femoral arteries.


Brooke's Birthday



Brooke is turning eight!

Every year we have with her is our gift.

She is a big sister to Mason, Cristiana and Teddi. Her favorite thing to do is to laugh and smile with them. Brooke has taught our family many valuable life lessons without ever saying a word.

The biggest birthday present you can give Brooke is a donation in her name to help fund research for a cure for Canavan Disease!

Make a gift here

Thank you!











Voices of Determination

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Reasons to Go

“For our family attending the conference is like coming ‘home’ to a family that understand and where you don’t have to explain yourself…you just get unconditional love and acceptance.”

“Attending conference changed everything for me. It’s an incredible feeling to bond with other families who understand what you are going through and are willing to hold your hand through it all..... it’s hard to sum it up.  The conference truly changed my life!”

“The support and guidance we received in the meetings was invaluable in helping us to stay on our feet, band together as a family and to continue to support her brother. There was so much comfort in knowing we were with other parents who completely understand the way we are feeling.”