Give Up Hope? Wrong Prescription, Doc

Give Up Hope? Wrong Prescription, Doc
5
(5)

Hope is a treatment that works for any disease. Why don’t doctors understand that?

When my son, Lou, was diagnosed with Angelman syndrome 20 years ago (wow, that was quick), I was told there was no hope for a cure. I was informed that Lou would have uncontrollable seizures, would never talk, might never walk or feed himself, would behave terribly, and would not sleep.

Nevertheless, I was told to go home and figure out how to be happy. That prognosis, with that advice, is a recipe for hopelessness, if I ever heard one.

Since 2000, I have met many mothers (and fathers) of children with Angelman syndrome and other rare genetic neurodevelopmental disorders. Most of us were told to go home, try to be happy, and give up hope for a cure.

Wrong prescription, doc.

Thankfully, many of these parents didn’t listen. They didn’t take no for an answer. And many of them are curing their children’s diseases.

The trick is to have hope for a cure and go home and be happy. These things are not mutually exclusive, and it is what three out of five doctors should recommend.

I am a neuroscientist as well as the parent of a child with Angelman syndrome, so other parents often contact me to ask what they should do when they get the diagnosis.

I tell them to help their children learn as much as possible, so that when a cure comes along, their brains are prepped and ready.

I tell them to push for inclusive education, lots of therapies, exercise, pets, swimming, a stable sleep schedule, brothers and sisters, lots of hugs from family, and lots of socialization with peers.

I also tell the Angelman parents to try to do the ketogenic diet, or at least the modified Atkins diet (but I’m a hypocrite in that regard, on account of cookies).

I also tell them to take life day by day with their child — don’t think too far ahead, and enjoy the silly moments and sloppy kisses that come with Angelman syndrome.

And at the same time, I tell them to have hope — hope for a treatment, hope for a breakthrough, hope for a cure. I tell them we need all hands on deck and can use their help, if they have the time or inclination to contribute to the cause.

So, doctor, listen to me. When you diagnose a genetic neurodevelopmental disorder, this is what you should say: “There is no cure, but maybe there could be, and maybe there will be. Maybe you yourself will find it. In the meantime, take each day as it comes, and find a way to laugh and learn and have fun.”

***

Note: Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Angelman Syndrome News, or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Angelman syndrome.

Terry Jo worked as a documentary filmmaker, then became a public health nurse midwife after filming a difficult birth in West Africa. When her son, Lou, was diagnosed with Angelman syndrome at age 1, she switched to research, earning a PhD in neuroscience from Vanderbilt University in a quest to find treatments for Lou, who is now an adult. She directed the Angelman Biomarkers and Outcome Measures Alliance from 2016-2018 and now leads COMBINEDBrain, assisting other rare genetic neurodevelopmental disorders in clinical trial readiness. Her column opens the mind to people with Angelman syndrome and other similar disorders.
×
Terry Jo worked as a documentary filmmaker, then became a public health nurse midwife after filming a difficult birth in West Africa. When her son, Lou, was diagnosed with Angelman syndrome at age 1, she switched to research, earning a PhD in neuroscience from Vanderbilt University in a quest to find treatments for Lou, who is now an adult. She directed the Angelman Biomarkers and Outcome Measures Alliance from 2016-2018 and now leads COMBINEDBrain, assisting other rare genetic neurodevelopmental disorders in clinical trial readiness. Her column opens the mind to people with Angelman syndrome and other similar disorders.

How useful was this post?

Click on a star to rate it!

Average rating 5 / 5. Vote count: 5

No votes so far! Be the first to rate this post.

As you found this post useful...

Follow us on social media!

We are sorry that this post was not useful for you!

Let us improve this post!

Tell us how we can improve this post?

Leave a Comment

Your email address will not be published. Required fields are marked *