Friday, February 19, 2010

SMARD

2 hours at PCMC +
flashbacks of those days +
lots of dr. language broken down for me +
questions +
tears =
not much information

unfortunately ry ended up not being able to get off work to come to this apt. i was nervous not for talking with dr. swoboda or asking the right questions or remembering what she told me- i was nervous to walk in those doors. i was nervous i would see one of those wonderful doctors, nurses or any other staff that would make me just break down right there. i was nervous to remember.
.... enough about being there... onto our topic- SMARD.
Another blog friend -Daily Dakin- had a post on smard so I am stealing a bit of what she said and adding some of what I found out yesterday.

What is SMARD? Spinal Muscular Atrophy with Respiratory Distress (SMARD) is part of the Spinal Muscular Atrophy family of disease. It is a motor neuron disease, meaning there is progressive destruction of cells that control motor function, such as breathing and speaking. Cognitive function is unaffected. Like all motor neuron disease, there is no cure. It is an autosomal recessive disease, meaning in theory both Ryan and I carry the mutations that cause SMARD (this is as yet to be determined--we still need to be tested). Testing is done through blood work and was, until very recently, unavailable in the United States.
It usually takes up to 3 months to get any testing results back- Makenzie's blood was drawn on December 3rd and we got her results back December 31st (our amazing Doctor sped the process up for us.) Makenzie has a more unusual case- 2 different mutations.

How is it different from SMA? SMARD is caused by mutations on the IGHMBP2 gene, whereas 'regular' SMA is caused by mutations of the SMN gene. SMARD typically attacks breathing musculature first, and moves to other muscles, this is what happened with Makenzie. Every living child with SMARD is trached and ventilated--without the diaphragm these children cannot breathe.

SMARD is little understood and even less known. Since IGHMBP2 is such a 'newly' discovered gene, there is not a lot by way of information about SMARD (and what is available is scary or requires an MD to understand). As far as we are aware, there are only maybe 60 diagnosed cases in the world.
With SMA- roughly 1 in every 10,000 children are born with this disease.
With SMARD- roughly 1 in every 1,000,000 (if that) are born with this disease.
1 in 40 people are carriers of the SMA gene.
1 in 50,000 are carriers of the SMARD gene.

Our options are not ideal options either. I prefer to keep that part more private since much of it is extremely controversial. What Ryan and I choose to do will not be taken lightly. It will take a lot of thought and prayer but no matter what- nothing will happen for a very long time.
So there it is... dumb disease..

13 comments :

Emma said...

I am sorry you didn't come away feeling you got more 'helpful' information, but that is hard with such a rare disease.

I can't imagine how hard it was to walk in those doors, especially without Ryan...I am SO proud of you. I know Kenzie was there, giving you all her amazing strength to help you!!

As for you options, you are right, they are private and noone has any right to 'tell you what to do'. You and Ryan have gone through something noone would ever want to, and noone should ever have to, and you are the only two people in the world that can decide what is right for YOU and YOUR FAMILY!! That is what you are deciding. This isn't about keeping other people happy, doing what others think is 'right' etc, this is doing what you both feel is right and making decisions you both are happy with and can live with. I have no doubt when you are ready you will make the decisions that are right for you and your fam...jsut as you did for Kenzie-you made your decisions with her in mind, with your love for her first and foremost and I know you will do that in any future decisions you make.

Again, so proud of you for going yesterday...you have a strength in you that I look to for inspiration daily. Thank you for that.
Hugs, Em

malory said...

Couldn't have said it better myself, Emma!

Barry and Jeanni said...

Happy that you were able to get some answers today! Sorry you had to go alone, you are a very strong woman. I pray for you and your hubby! Hopefully one day you will be guided as to what is best for your family!

brigette said...

Oh kendra you are brave! I still break down when I have to go to pcmc. After 4 months of the nicu,picu I hate having to do it. I'm glad you were able to meet with dr swoboda her and dr kerry followed kael very closely because they could never give his neuromuscular condition a name. They were so kind a knowledegable. If there's anything I can do please let me know!! Always thinking of you!! I'm sorry you have to go down this road :o(

Devon said...

I didn't know the 1 in 50,000 stat!!

I know what you mean by your options. We are going over the same thing right now...email me if you want to chat.

Have you both been tested? We haven't yet...

Hugs and much love to you, Kendra. We think of you and Kenz often.

Andrea said...

So proud of you for going by yourself! I love Emma's post because she is right. It is always hard waking through those doors and I don't think it gets easier as time goes on. Thinking of you often and keeping you in my prayers with all those others that have suffered up there always. If you ever need anything please let me know. Hugs!!

Stacy said...

I am another who loves the way Emma said it, so I am just going to say "Yea, that". No matter what you decide to do, no matter how you decide to do it just remember you will have the prayers of many people - even those of us who don't know you. ~ Stacy

Tiff-E said...

Hey...I am one of those blog stalkers! Ha, I saw your blog on my friends blog...anyway, I just want to say thanks for sharing your story and helping the rest of us not take things for granted. You are an amazingly brave person from what I can see, and my prayers are now going to include you and your family. Good luck and stay strong.

Barry and Jeanni said...

Kendra- I don't remember how I found your blog- but I now read it often and am touched by your story. Please send me your email address- I made something for you and want you to preview it for errors before I send it to print.- my email is jeannij@att.net -Thanks and Hugs :)

Alerie said...

Kendra you are so strong!! I can't even imagine how hard it was to walk through the doors again, ESPECIALLY without Ryan by your side, you are so amazing!! I am so proud of you and I know Makenzie would be so proud of her mommy too!!

Thank you for sharing all of this information with us and I am sorry that you feel like you didn't get much info. I am sure that must be hard for you guys.

AND yes you are entitled to keep whatever you want private. I think everyone will respect that, because it ultimately only affects you and Ryan, so therefore it is between just the two of you. I will pray that when you are ready that you guys will be able to find the answers you need and be able to have peace with your decisions.

I hope you had a good weekend!! Always thinking and praying for your sweet family!! Much love!!

P.S. - I was listening to my iTunes today and a song came up that made me think of you - Your Hands by JJ Heller - look it up if you want, I think it is a very beautiful song!!

Chris, Molly, and Baby said...

Our daughter died of SMA in October and we have our appointment with a genetisist (again) in March.
Have you joined or checked out SMAspace. There is an SMARD group on there.
It's been hard for me because our daughter only lived 3 weeks with the diagnosis and I've often felt lost in the SMA world.
If you ever want to email me and just get it all out or talk about anything please do. I'm a "bit" older than you and we are having to think of our family building sooner rather than later because of our age but if you want to talk about that I'm here. SMAspace also has groups that "talk" about that.
You are extremely strong and your daughter is BEAUTIFUL! Grieving is hard work. I'm seeing a grief counselor and I told her that on my hardest days I just feel exhausted.
Anyway, if you want to talk I'm here.
Molly
mollyiteach@hotmail.com
http://bootsieandbull.blogspot.com

Bridget said...

Wow. I'm so sorry for your loss and for the curve ball thrown into your family plans. May God bless you and continue to guide you.

bridgetjohns.blogspot.com

mark said...

Hi,
I have been surfing the web after our tragedy with SMARD and your blog touched me very much.
Let me tell the story of our angel Adrian first. My name is Mark Castelino. My wife is Helen. We are from India and now living in Ireland. Our Angel Adrian was born in Aug 2008.

He was very beautiful just like your Rye. We never knew he had any problems execpt that he was little underweight for his age. We even took him to India when he was 2 months old for his christening ( 20 hour journey, 3 flight changes).
During the flight back we realised that we had a problem. He was not feeding properly. Then it all started.

We took him to the doctors, after a few days was hospitalised for a couple of weeks and was sent home with a n-g tube. They did a few tests and scans and found that he had a problem with his intestine (mal-rotation of intestine!!!!). A simple surgery would fix this.
The surgery was booked in the next month. On the day of the surgery, while preparing for the surgery he collapsed for the first time and had to be intubated. Nevertheless, the surgery was done after a few days.
During the surgery they found that the diaphragm muscles supporting the lungs were weak and was a concern to be observed. We were supposed to take him home in a weeks time.
But within a few days he collapsed agian and had to be re-intubated. And finally after more tests and 3 months in icu, they found out he had SMARD.

Rest of the story is similar to yours. He spent most of his time cuddling mummy & daddy, playing , watching his portable dvd player, being photographed and videoed. Finally, In June 2009, our angel left us and went back to heaven.
Life has been very difficult since then, and I can definitely understand how you feel with your loss. Time now is spent in playing back the memories and I guess it is the same with you. May God give your the strength to deal with the difficulties and peace within yourself.

Our Genetist has also told us about the 'options', but they are not available in this country.
Whatever you are going for or have already decided, May you be successful. We will pray for you.

Mark

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