Heartbreaking website celebrates future milestone for terminally-ill baby; also educates about her condition SMA

Parents of a 5-month old baby girl with Spinal Muscular Atrophy (SMA) have created a website to educate other parents and doctors about their child’s terminal condition.They also are using the site to celebrate future milestones that she won’t be alive to achieve.

From the website:

“Imagine you’ve been diagnosed with an incurable genetic disease and you are told you will not only lose your ability to walk and move your arms, but you will die between now and the next 18 months. What would you do? My name is Avery Lynn Canahuati, I’m almost 5 months old, and this has become my reality. But before I die, there’s a few things I’d like to accomplish…this is my bucket list and my story. SHARE IT & HELP ME TELL THE WORLD ABOUT SMA!”

So what is SMA? Here is some facts from the website:

Before I share my weekend, here are some facts about Spinal Muscular Atrophy (SMA):
1 in 40 people (that’s over 7,500,000 people) in the U.S. alone are carriers of SMA.  I lost count somewhere between my big toe and my pinky toe, but doesn’t that seem like an awfully BIIIIIIG number for most people to have never even heard of the #1 genetic killer of infants and children under the age of 2?  And if you think about it, that number could be significantly higher than 7.5 million.  I mean, do you recall when your last SMA carrier test was?  Or the last time an SMA carrier test was offered to you?”

“I know my mommy & daddy were never offered a test to see if they were SMA carriers.  Did you know you can ask your doctors to test you and your partner for the SMA carrier gene prior to conceiving children?  And did you know that if you both carry the SMA gene you can use alternative fertilization methods (ewwwwww yucky) to ensure your children will be born without SMA?  Or if you prefer, you can still try and conceive a child naturally (again, ewwwwwww), in which case you’ll be susceptible to the following probabilities (proba what?)…” (See the blog for all the probabilities. I didn’t want to pull too much from the blog.)”

The blog is written as the little girl and it’s her telling about different things she is doing such as getting her first kiss, or first Valentine’s flowers or visiting a college campus. There’s a whole list of things to accomplish on the site.

Most readers assume it’s the mother writing as the little girl, but according to The Huffington Post, it’s the father.

As of last night the site had more than 2 million page views and was rapidly increasing.

I am just weeping as I am writing this. I can’t imagine being told your brand new little baby won’t be able to use her arms or legs and is going to die. It’s just so sad. These parents are braver than I am to try to live in the moment and positively and make memories with their sweet baby girl. And also help others know about SMA and maybe prevent another baby from suffering.

So what do you think of their website and blog entries? Do you like the idea of making memories with their sick baby? Have you ever heard of SMA before? Would this encourage you to do genetic testing for it before getting pregnant?

26 comments Add your comment

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[...] disorder, began as an efficient way to keep family and close friends in touch about baby …Heartbreaking website celebrates future milestone for terminally-ill baby …Atlanta Journal Constitution [...]

catlady

May 1st, 2012
7:03 am

Seems macabre to me; everyone grieves in their own way, however.

And, Theresa, if this happened to you, you would deal. There is no other choice.

A

May 1st, 2012
7:15 am

I’m not a softie, but I was very moved when I heard about this family last week. I would not do the same thing and publicize this kind of situation, but everyone is different I guess. In hindsight, maybe it’s not such a bad idea to undergo genetic testing prior to trying to get pregnant. I know the pro-lifers here will criticize this, but for some people if you know both you and your partner carry this kind of genetic marker, and there’s a chance your child would not live past age 2, they might think more carefully about trying to have kids. I think I would have if I had been in this situation.

A

May 1st, 2012
7:17 am

Just to add that I do think it’s a bit creepy that they are writing the blog in the “voice” of their poor baby girl. I reread that paragraph above about SMA and it just feels wrong to think they are pretending their 5-month-old is writing it.

GTmom

May 1st, 2012
7:18 am

Oh SMA.. It tortures me so. My best friend has SMA type 2. She is now in her 30’s. She was lucky.. I guess. She didn’t have type 1 and therefore may live a long life unless she gets some horrible respiratory infection. She has a curved metal rod in her back to force her in a sitting position. As result, her back is always hurting. She is a very intelligent girl and graduated from Ga Tech with a Chemical Engineer degree. She can not work as a chemical engineer because if she makes too much money she loses her medicaid waiver. If she loses her medicaid waiver she will have to pay for so many things that even as a chemical engineer she would not be able to afford and she can never get her medicaid waiver back.
Oh, I worry about her so much. Her mother is aging. She only gets 12 hours attendant care – her mother helps her the other 12 hours. She uses her attendant care at work so she can live a productive life. Her poor mother who takes care of her at home gets up every two hours all night long to change her position because my friend can not turn over. Her mother has not had a full night sleep in 35 years. My friend doesn’t even know what a full night sleep even means. She has never experienced it. Both my friend and her mother are growing through severe depression and anxiety. Her mother was always a rock but now I think she is afraid. Who will take care of her daughter if something happens to the mother? I can’t see her lifting my friend much longer. And then , I think of all the things both have missed out on life; my friend has never had a private moment to herself ever. Always an attendant or her mother is in the room or just outside the room. I run almost every day. I wished my friend could feel what running feels like. She tells me all the time “If I could walk, I would run like you too. I would run everywhere.”
So many things she has missed out on. It makes me very sad. I showed my friend this blog this week. I know that she would approve of families determing if they are at risk at carrying the SMA gene and deciding to not have children because of it.

[...] disorder, began as an efficient way to keep family and close friends in touch about baby …Heartbreaking website celebrates future milestone for terminally-ill baby …Atlanta Journal Constitution [...]

Tricia Page

May 1st, 2012
8:38 am

I am a genetic counselor at Emory University, and I wanted to echo the fact that carrier screening is available for SMA (and other genetic conditions) and is best done PRIOR to pregnancy, when a couple has the most opportunities for prevention. Remember that the majority of carriers for SMA have no family history of the condition. Ask your physician about ordering this, or seek out a genetic counselor who can help at http://www.nsgc.org.

The views expressed here are my own, and do not represent the official position of Emory University.

DB

May 1st, 2012
8:47 am

I read the blog last week, and was inspired by the parents’ determination to celebrate her life, no matter how short, instead of waiting for her death. It takes a certain “take THAT, life!” attitude that I greatly admire! I had never heard of SMA, but you better believe I know about it now, and for that, I think the Canahuatis have succeeded in their mission to spread the word.

I loved the suggestions that people have put forth as “milestones”, and it makes me incredible thankful that my own daughter has been able to grow up happy, healthy and with a zest for life. I don’t find it “creepy” that the blog is written in the first person — her parents are giving her a voice, because she will never have one for herself.

Me

May 1st, 2012
9:33 am

I do have sympathy for the family but this isn’t the manner in which I would handle such. And, perhaps it’s crass, but this simply falls into the “life isnlt fair” category and is yet an unpleasant hand that’s been dealt and now has to be played. To extend the metaphor, since this isn’t a card game and the option to fold doesn’t exist, you simply deal with it.

Theresa Walsh Giarrusso

May 1st, 2012
10:17 am

Tricia — good information — thank you for sharing! My brother had has heart transplant at Emory two years ago. They did an amazing job. He was in ICU for 10 weeks. The doctors and nurses and the team that help him with all the insurance crap were amazing. He also had a wonderful chaplain that he has stayed in touch with.

missnadine

May 1st, 2012
10:32 am

I agree with those who feel this is macabre. I’ll even go as far to say it is really creepy.

DB

May 1st, 2012
10:53 am

@Me: “you simply deal with it.” They ARE dealing with it, and this is the way they have chosen to deal with it. It may not be the way you’d handle it, but it’s the way they’ve chosen. No, life isn’t fair — but nowhere in their blog do they whine about it. You can tell they are shocked and saddened, but they are just getting on with it in their own way, and using it as an opportunity to educate others. Pretty selfless, if you ask me.

K's Mom

May 1st, 2012
10:57 am

@DB well said.

Not sure I would share my writing with the world, but I do find that when faced with grief, writing about it helps me. My MSWord documents have several things that are my venting and coping, I just do not publish them. If it helps to publish their thoughts and allows this family to cope, I can appreciate that.

JOD

May 1st, 2012
11:39 am

@GTMom – So sad! You friend and her Mom are in my prayers.

@DB and K’s Mom – Exactly what I think and nicely said. I read the article, but not the blog itself as I knew it would upset me too much.

I don’t remember if I outed myself or not, but I am the Mom who had the recent miscarriage (I SO appreciated all of the kind thoughts and suggestions), and since I was writing a journal/letter to the baby, I wrote him/her one last letter. I don’t think I could ever publish it, though.

Me

May 1st, 2012
12:51 pm

@DB – I didn’t ask you. I understand that they are dealing with it in the manner they chose. I simply stated that I would not deal with it in that manner. I never once said that they were doing anything incorrectly. I voiced my opinion; that’s all. If you find it selfless, so be it.
I also just saw where the baby has lost her battle and passed away. My thoughts and prayers are with the family.

TinaTeach

May 1st, 2012
1:42 pm

For those who may not have heard. Avery passed away.

Becky

May 1st, 2012
2:28 pm

I read some of their blog and it breaks my heart..I can not imagine what they are going thru..If this is what helps them deal with it, I think it’s great..

@DB..Amen..They are dealing with it and this seems to work for them..

@JOD..Sorry for your loss..Again, something else that I have no first hand experience (sp) with, so I’m not even going to offer words that I don’t know would help..

K's Mom

May 1st, 2012
2:58 pm

@JOD, I am so sorry to hear that. I am sure you will always feel this loss, but I hope your grief gets easier as time goes by.

Jada

May 1st, 2012
3:26 pm

For those of you criticizing their decision to write a blog, have you thought that they did it to bring awareness to SMA? How many of you calling the blog macabre or creepy had even heard of SMA or being able to be tested for it before Avery’s story was in the news? Hmmm, I’d say not many. I know I hadn’t heard about it. This little girl probably had more impact in her short life than most of you so called critics. As you’re sitting in your cubicle or with your tub of ice cream on your couch – not amounting to much – do you really think millions of people will be touched by anything you do, your life, or your passing? Probably not. Here’s a tip for the critics of the blog: when you help raise $1 million to find a cure for a disease or disorder or bring awareness to one for the masses I’ll listen to your gripes. In the meantime, sit back and continue to be sanctimonious arm chair critics.

catlady

May 1st, 2012
3:29 pm

May her family find comfort.

Denise

May 1st, 2012
9:56 pm

@JOD – I’m sorry for your loss. I cannot even imagine…

And for this family, I pray that they find comfort in their loss and the fact that they have educated so many on this illness. It won’t bring their baby back but they have allowed her short life to make an impact.

Kat

May 2nd, 2012
12:45 am

Yes, she did pass. But, I had never heard of this condition before I heard about this sweet baby’s struggles. So, she should have down educated MANY people about this disease on that list.

Theresa Walsh Giarrusso

May 2nd, 2012
1:15 am

The baby did die today. So so sooo sad! Here is a link to the CNN story about what happened. Her death was unexpected. Her lung collapsed and she went into cardiac arrest. The father did CPR and saved her momentarily. Oh my goodness sooooo sad!!

http://www.cnn.com/2012/05/01/us/texas-baby-bucket-list/index.html