How to handle a child's degenerative and fatal diagnosis

July 10, 2012 5:52 PM

Tomorrow I find out if my two-year-old son has Duchenne's Muscular Dystrophy. There's no "good" form of MD, but this is definitely the "bad" (and most common) version. Most children with this diagnosis are wheelchair-bound by age 12, and the average life expectancy is 25. There is no treatment and no cure. How do I, as a father, deal with this?

I've checked out the MDA web site, but it seems to be more advocacy/research than support. But speaking in more general terms, what is the best way, in the long term, to handle this for my two-year-old son and his six-year-old sister? My wife and I are still reeling from the news (we brought him in today to get fitted for some orthotics, and we left with a tentative diagnosis of MD and a blood test, the results of which we will find out tomorrow) and we're not quite sure what to do.

I want my daughter and son to have as normal and as joyful a childhood as possible: camping trips, drive-ins, swim parties, story times, trips to the zoo (and all of this we already do). But how do I handle this, knowing that there's a fucking train wreck in the future, and every missed step and sore muscle and unnecessary fall is just another sign of the tragedy to come?

Has anyone else been in a similar situation?

posted by math to human relations (31 answers total)

I am so very sorry, my heart goes out to you.

My best childhood friend had Duchenne's MD. The best thing in his life was the pool. There he could swim well into his mid teens. Massage therapy helped him a great deal, but I have read that can vary greatly by person.
posted by Nickel Pickle at 5:57 PM on July 10, 2012 [1 favorite]

Sorry, just wanted to add... this will likely be difficult on your marriage and your daughter. Perhaps having a plan for some counseling now as you adjust to what this means, and some ongoing way of checking in on your daughter to ensure that she in not bearing more of the weight than she can manage would be wise.
posted by Nickel Pickle at 6:04 PM on July 10, 2012 [1 favorite]

I am so sorry. I have not been in this situation, but my children are similar ages and friends of ours with kids have faced some really tough diagnoses.

I know this isn't going to change what you are doing... but you might want to put yourself on Internet lockdown for awhile. This thread will be here tommorrow.

Turn of the web for awhile. There is just. too. much.

You're understandably reeling and waiting for a diagnosis. Just try and hold off all the scenario-building for a little bit until you know for sure what you're dealing with. There are many special-needs support groups online, and they might just be a lifeline for you. They have been for my friends.

But not tonight.
posted by pantarei70 at 6:08 PM on July 10, 2012 [8 favorites]

Support. Really dig in with your family and friends. Seek out groups of people in similar situations. I guarantee you, in this age of the internet there is a group of parents whose children have this condition. EndDuchenne.org seems like a place to start; they've got a way to connect with other families.
posted by valkyryn at 6:30 PM on July 10, 2012

I'm going to advocate that you wait for an actual diagnosis and not borrow trouble.

Once you know this is what is going on give yourself some time to mourn the loss of the life you had planned.

Support as mentioned above will be important.

And just remember you don't get a choice in these things. All the time people believe they couldn't deal with something until it happens. You will adapt, adjust, and still have a life. Your son will also.

I've had family members with horrible medical conditions, so I know you'll find what works.
posted by cjorgensen at 6:37 PM on July 10, 2012 [4 favorites]

I'm really sorry to hear that. Like Math, I agree with not Googling anything til you have facts. I can't pretend to know what you're going through but earlier this year I was waiting on a scary diagnosis in the hospital and I decided that much as I was tempted to Google away on my phone, I would allow the doctor to present me with facts first. I also asked my friends, if they had googled it, not to present me with any information. I was still nervous as hell but it was a less messy kind of nervous, and the great thing about the doctors was that they explained it in such a dry "machinery not working" type of way that my brain also processed the news in a slightly calmer manner, which was important as I didn't want to freak out my parents. Once I was out of hospital I Googled to my hearts content but keeping things factual and not looking into the future in the first instance helped me be less anxious for my family etc.

My thoughts are with you and your family.
posted by lifethatihavenotlivedyet at 6:45 PM on July 10, 2012

I took care of a kid with Duchenne for a couple months when I did my Peds rotation.
I think that they're starting to have some success with gene therapy.
Still, it's a terrible disease.
My heart goes out to you.
posted by brevator at 7:30 PM on July 10, 2012

You asked the question. You aren't going to not look for answers on the internet. I assume it is near pointless to tell you to step away from the computer and shut off your brain for the night - even though that is exactly what you should do. I know I wouldn't if I were in your situation.

Ok, so moving on from there. Lets say the news is of the bad variety, well then, what next?

MDA Camp. (Ther will be a point when supervised unsupervision will be important in finding a level of self and normalcy).
Ride-Away. At some point, you may need to pimp your ride.
Freedom Concepts. At some point, you will need to pimp their ride (Bikes for duchennes!).
Liko. Hammocks are good for relaxing in.
Wheelchair Getaways. Vacationing may get a little more complex, but there is a car rental location in most places.
Clinical Trials. Research...
CoughAssist. Eh....
DMD Pioneers. Support...
ARFkids. Dogs are pretty cool, especially ones that are trained for kids.
Halloween can be awesome.
posted by Nanukthedog at 7:31 PM on July 10, 2012 [7 favorites]

I'm really sorry you are dealing with this. My response is focused on the practical because it's a really emotional topic for me.

First off, do your best and stay away from Dr. Google. I know how tempting it is, but really, no good can come out of it until you know more details.

My dad was misdiagnosed with a different form of MD and has now been diagnosed with a related disorder they still consider under their umbrella. His experience was that MDA was an incredible resource. I would get in touch with a human being at the local level. I believe my dad made contact through his physician at a local research hospital. They were amazing -- covered his co-pays, sorted out getting his first power chair, identified research studies, and many other things that are just difficult to deal with when you don't know the system. This would free up time and emotional energy to making your lives as normal as possible.


Best wishes to you.
posted by missmerrymack at 10:31 PM on July 10, 2012

I did my high school service project at one of the MDA camps linked above. Great experience for everyone involved.
posted by bardic at 1:24 AM on July 11, 2012

Somewhat restating what missmerrymack said at first above: I work in a genetics division at a hospital that sees patients with Duchenne muscular dystrophy, and they are all different. In fact, we see two brothers who both have Duchenne, and their symptoms are on vastly different ends of the "spectrum."

Take what you read on the internet and elsewhere with a grain of salt, knowing that your family's experience will be different than everyone else's.

You may also want to think about when you want to explain to your daughter that she could be a carrier, particularly when she begins family planning as an adult.
posted by kuanes at 3:52 AM on July 11, 2012

A friend has a child who has SMA (spinal muscular atrophy) and has built a lot of community with Families of SMA. Perhaps there is a similar organization addressing the needs of your child?
posted by kuppajava at 8:11 AM on July 11, 2012

I am a gene therapist and I have basically dedicated my life towards trying to find a cure for DMD. I am so so sorry to hear about your son. My heart breaks for you. I don't want to give you any false hopes, but you may want to look into clinical trials for gene therapy. I particularly work with adeno-associated virus (AAV), and in my opinion this is the safest form of gene therapy. Feel free to private message me if you ever need any help with anything, scientific/medical or not.
posted by corn_bread at 8:58 AM on July 11, 2012 [2 favorites]

It's not MD. It's not MD. It's not MD. It's not MD.

My thanks to all of you for your kind words and for your support. I'm crying right now. My son will be OK. my son will be ok. thank you.
posted by math at 9:02 AM on July 11, 2012 [44 favorites]

OMG I am so happy for your family! You seriously just made my day.
posted by corn_bread at 9:02 AM on July 11, 2012

Good grief, I just cried a few tears for a family I don't even know. This made my day too! Wonderful news!
posted by SuperSquirrel at 9:19 AM on July 11, 2012 [2 favorites]

Oh god, I am so SO happy for you! You need to seriously celebrate today! :D
posted by Tarumba at 9:50 AM on July 11, 2012

Wonderful news. What a great day.
posted by rabbitrabbit at 10:37 AM on July 11, 2012

I hope my links continue to be as irrelevant to as many people as possible. I am happy for you.
posted by Nanukthedog at 11:03 AM on July 11, 2012 [1 favorite]

As I hold my 7 day old daughter in my arms, I weep with joy for you. Peace to you and your family.
posted by tristeza at 11:14 AM on July 11, 2012

Oh, what a blessed relief. Thank you for updating -- I've been worried for your son, and just checked for an update as soon as I got my own 2-year-old down for her nap.
posted by palliser at 11:56 AM on July 11, 2012

Thank you so much, everyone!

You know those scenes in the movies where the character is running down the street (usually in the rain), laughing and crying at the same time? I always thought that it was a tvtrope, until I found myself doing that today just after I got the phone call that the test came back negative.

Thank you, Nickel Pickle and pantarei70 and valkyryn and cjorgensen and lifethatihavenotlivedyet and brevator and Nanukthedog and missmerrymack and bardic and kuanes and kuppajava and corn_bread and SuperSquirrel and Tarumba and rabbitrabbit and tristeza and palliser for taking the time to reach out to a stranger on the internet and to share your kind words with me.

I will be writing a painfully large check to the MDA today. There are lots of families who are not as fortunate as we were today, and my heart breaks for all of them.

But tonight, it's pizza for the kids, and beer for me and the wife! Yay!

Bless you all, my dear sweet internet friends. Today, I love everybody.
posted by math at 1:22 PM on July 11, 2012 [16 favorites]

Oh, for those who asked, it's probably a form of congenital hypotonia that he has. Could be serious or could be mild, but at least we're certain that it's not Duchenne's muscular dystrophy.

Did I mention that I love everybody? Because today I love everybody.
posted by math at 1:31 PM on July 11, 2012 [4 favorites]

Glad you got good news. I've written about it here, but I had a neck tumor. I'd worked myself into an anxiety frenzy for weeks knowing it was cancer. When the test was actually done it wasn't cancer. There wasn't a whole lot I could do about it either way, but I wished I'd decided to try to be a bit cooler about things until I actually knew.

There's a reason we actually get tests.

Excited it's not the terrible thing. Hope you get it figured out!
posted by cjorgensen at 1:49 PM on July 11, 2012

This is amazing news - I am so glad it's turned out to be good news!
posted by ozgirlabroad at 3:52 PM on July 11, 2012

Crying happy tears for you. Just went and kissed my toddler a few extra times. Thank you for updating!
posted by Nickel Pickle at 5:36 PM on July 11, 2012

Very glad to hear that.
Sorry you had to go through that.
Good luck in all your endevors.
posted by brevator at 5:52 PM on July 11, 2012

Wonderful, happy news! All the best to you and your family!
posted by heffalump at 4:02 AM on July 12, 2012

I just came back in to this thread to check on your news and realised I was holding my breath while I was scrolling down the page. I am so tremendously happy for you and your family and wish you all the best with your little boy's future health, whatever the ultimate diagnosis may be.
posted by Defying Gravity at 6:33 AM on July 12, 2012

I didn't have advice to offer, but I had been following this thread. I'm so glad that it turned out to be good news! Best of luck with your son's future health, whatever the final diagnosis may be. I hope you and your family have a fantastic day!
posted by wiskunde at 8:21 AM on July 12, 2012

In really late but just wanted to add my congratulations on the negative (odd word in this situation!) diagnosis. I can't imagine what you were going through there. Hope you're still celebrating!
posted by tzb at 1:20 AM on July 24, 2012