Happy Holidays, Patient Worthians!
As we celebrate the holidays this year, we take a moment to reflect on the things that matter most deeply to us. This week, we have an article discussing from a patient contributor with cystinosis who reflects on her circumstances and her faith. We also have a story of a boy with Pitt-Hopkins syndrome, whose loving parents hope to see defeat trying circumstances. We have an article about parents, who continue to love after the grief of losing two children to mitochondrial disease. Last but not least, we have a handy resource from the Jeffrey Modell foundation that helps identify CGD.
Sit back and enjoy this week’s Editor’s Choice.
A woman with cystinosis reflects on the journey of her life with a rare disease.
Read the latest installment in Patient Contributor Rebekah Palmer’s I Am a Blessing Series here.
An Australian boy with Pitt-Hopkins undergoes therapies to treat his rare condition, but his family remains positive.
Read more about the story here.
There may be no greater pain than losing a child. Still, after losing two children to pyruvate carboxylase deficiency, two parents were able to take that pain and use it to love even more deeply than before.
Read about her experience here.
Since chronic granulomatous disease (CGD) is a rare condition, it can be overlooked at the doctor’s office.
Check out the signs of CGD here.