Editor’s Choice: A Round of Applause for Rare Families this Holiday Season

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.

 

I Am a Blessing – Part 4 of My Cystinosis Series

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.



Parents of Diseased Boy with Pitt-Hopkins Syndrome Hope to See Him Walk

An Australian boy with Pitt-Hopkins undergoes therapies to treat his rare condition, but his family remains positive.

Read more about the story here.



Losing Their Children Made Them Stronger Parents

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.

 

 

 

 

10 Warning Signs of CGD from the Jeffrey Modell Foundation

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.


Do you have a rare disease experience of your own? Share with us here.

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