Hello, I'm Ailbhe and along with Adam, my husband, and Sam (5) and Dara (3), we are the O'Reilly family from Dublin, Ireland. Dara has Glut1 deficiency syndrome and was…
I had the pleasure of attending the Glut1 Deficiency Foundation’s 2019 Conference. While this article can't possibly do the event justice and encompass all it had to offer, we will…
According to a story from Biospace, the biopharmaceutical company Ultragenyx Pharmaceutical Inc. recently reported that its experimental product UX007 failed to achieve its primary endpoint in a recent clinical trial.…
A recent study published in the journal Cell has investigated the process behind the genetic condition Glut1 deficiency syndrome. Many genetic disorders are thought to be caused by genetic alterations that…
My heart breaks for children who are suffering from a chronic or rare disease such as refractory epilepsy or Glut1 disease. My heart breaks as well for their parents, siblings, and grandparents…
Can you imagine your toddler son having to get a lumbar puncture in order to be diagnosed with a condition that, despite the fact that you've never heard of it, he'll…
Being a parent is tough. We never know if we’re on the right track. Too many thoughts of self-criticism come to mind: Am I doing this right? Do I practice…
As if there wasn't enough about Glut1 deficiency to be frustrated with, scientists are now saying there are more symptoms to the condition than they were originally aware of. In…
Fields Taylor was 15 weeks old when she had her first seizure. They continued for months as doctors were unable to determine what was wrong. Then another seizure led to more tests…
Could the study of Alzheimer's disease lead to treatments for GLUT1 deficiency syndrome? It's been known for a while that there's a link between Alzheimer's and how the brain metabolizes…
This Halloween season, I want to revisit a post from more than three months ago that originally appeared on GoFundMe. It has since raised more than $18,000. "Grady will never taste…
Se les ve en todas partes - a pesar de que se ven fuera de lugar en la tienda de comestibles, o en el cine, o - peor aún -…
Cuando era una niña, Remi Savioz quería una cosa. Y no, no era un cachorro, una bicicleta, o incluso un viaje a Disneyland ... Remi lo que quería era una…
La mayoría de los padres están ansiosos de que las primeras palabras de su hijo. Pero como el Daily Mail en el Reino Unido informa, Stevie y David Taylor esperaron…
el blog de Honest Abe, un cajón de sastre sitio para juegos de video y la ciencia, ahora puede añadir campeón enfermedad rara con su descripción. El verdadero Honest Abe…
Si su médico le ha dicho que se podía comer pizza, carne y otros alimentos ricos en grasa al día es probable que registrarse para que la prescripción inmediatamente. Pero…
¿Alguna vez has oído hablar de la deficiencia de Glut1? Basada en una historia ofrecida en News-Medical, y no tenían los padres de su hija diagnosticadaa los 4 años de…
Glucosa. Esto significa que el azúcar, ¿verdad? Está en su cuerpo, ¿verdad? Pero, ¿cómo se transportan y cómo sabe que su cuerpo la cantidad que necesita para el transporte? Lo…
On the day Remi Savioz was born, it seemed that the world had welcomed a perfectly normal healthy baby girl. On day three, that illusion was shattered when she began…
In 1924, a maverick young doctor at the Mayo Clinic named Russell Wilder came up with a diet that he thought would help people with epilepsy reduce the number of…
In every great mystery novel, there's a code that needs to be cracked so the protagonist can triumph in the end. When it comes to medicine, that code is the…
Congrats Patient Worthians! You made it to Friday! This week we have some interesting Myasthenia Gravis pain remedies. Additionally, we have a pretty sweet Acromegaly poster designed by one of our…
Hey, do you love bike riding? Competitively or otherwise? And are you going to be in the Philly area around May 7th? Then you should consider taking part in the…
In theory, I know there are people who don’t like chocolate. I have been told they exist. And I respect that choice. But my chocolate-loving heart really aches for people…
About a week ago, my best friend’s husband had a life-threatening emergency and was rushed to the ER. So when I got the call late that night, I too rushed to…
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