Welcome to Georgia's Journey

Georgia Lily Lucas was born at home on October 6th, 2008 4:15am, in Winnipeg, Manitoba. She was diagnosed with SMA (Spinal Muscular Atrophy) on April 1, 2009.

On April 3rd Georgia was taken home, to be near her sisters and the rest of her family and friends. Nearly three weeks later, on April 21, 2009, she died peacefully -- in the loving arms of her mother and in the same room in which she was born.

Friday, May 29, 2009

Hospital Visit

On Wednesday Mike and I had an appointment with the genetic counsellor. It was an opportunity for questions and answers and we had our blood drawn to ensure that we are both SMA I carriers. The chances that we're not is less than 5%. The girls will have the opportunity to make their own choices regarding testing when they are adults. Let's all hope that there is a cure for SMA before my girls are of child bearing age.

We also walked up to the PICU to drop off some toys. I had thought that it might be difficult but it wasn't. Navigating the halls and elevators brought back memories but Mike and I can do that without even paying attention. I don't know how many times we made our way through that labyrinth. We saw a few familiar faces and stayed for a short visit. That part was easy because I wasn't in a state of panic as to how Georgie was doing. The fact that the meter had already run out was trivial. : ) Thank you again to Dr. Mhanni and all of the staff at Children's. We are forever grateful for the care that you provided and the compassion that you showed to a couple of visiting parents. We think of you all of the time. Congratulations Ben and sorry we missed you Lindsay.

To the person who suggested that the birds I saw were Nuthatches, I agree that those are the closest looking birds but I have yet to see one that I would say is the same bird. In fact, last night I spent way to much time online trying to figure out what they are. In the end, my friend and I had a huge laugh over the idea that I have either discovered a new species of bird or am indeed crazy! I have decided that I will keep searching and keep my camera close to the back door.

Lorraine, of course I remember who you are. I will never forget Jenna and her sparkly red shoes. Last summer we met at the swings and I had the opportunity to meet Ethan. I am sure that we will see more of each other again now that the weather is finally warming up.

For those of you still interested in reading the article here is the link. Yes, I know that the blog address in the article is wrong. I have contacted the reporter to let him know but he has yet to get back to us.

Love to you all,

Kristen

6 comments:

  1. Hello Kristen & Mike,

    First off, great job on the Lance article. I feel that you have done a wonderful job in getting your message out in a concise, yet "real" and impactful manner, and the newspaper did a great job of capturing it. Jo also emailed me the link, and I intend to pass the story onto my email network and encourage them to sign the petition as well. The article is a great "networking" piece if you will, as it allows us who have broader networks to send your story and message on, and refer people your blog/petition who have never heard of you or SMA before. (So a novel way to rekindle your efforts to create SMA awareness)!

    Thanks for sharing about your genetic testing. My questions to you are: "Do both parents have to be genetic carriers for a child to develop SMA, or can it be just one? If it is just one, what are the odds of the child developing the disease? Also, do both parents have to be "type 1" carriers for the child to have "type 1" SMA? And lastly, if both parents are indeed "type 1" carriers, what is the liklihood that they will bear a child with type 1 SMA?" I ask these questions mainly out of curiousity, but also from drawing upon an awareness perspective as well. If you can shed any light given your research/genetic counselling experience, it would be appreciated (as I'm sure others following are curious, too). -Unfortunately, my grade 12 biology will only stretch me so far...:)

    Once again, I give you tremendous credit, support and encouragement as you continue your journey onward, and as you continue to share it so expressively with the rest of the world.

    Sharlene Rollwagen

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  2. Hi Sharlene,
    I'll try to answer your questions.
    1. Yes both parents have to be SMA carriers for a child to develop inherited SMA. I say 'inherited' because there is a very small chance that an individual with SMA actually did not inherit it, but got it through a random mutation. That is what Kristen means when she says there is a less than 5% chance we are not both carriers -- that is the likelihood that Georgia had SMA 'by fluke'.

    2. If only one parent is a carrier, it is impossible for the child to inherit SMA. But note that each child in this case would have a 50% chance of being a *carrier*.

    3. You can't be a type I or any type carrier, you can only be an SMA carrier. However, we were told that the "type" does run in the family, so that if two carriers have had an SMA baby of type I, then if they're unlucky enough to have another baby with SMA, it will also be type I. BUT if one of them mated with another carrier (even someone who had already had a type I baby) I don't think there's any way to predict what "type" an SMA baby from that union would be.
    The way I understand it is that what goes into determining the "type" is a lot more complicated and has to do with many more genes than the one responsible for SMA itself. (I could be wrong on this though.)

    Other facts you might want to know:
    - Siblings of a child with SMA, who don't themselves have SMA (e.g. Calla & Maya), each have a 2/3 chance of being carriers.
    - Approximately 1/40 people in the general population are SMA carriers.
    - Siblings of carriers have a 1/2 (i.e. 50%) chance of also being carriers.

    Here is a picture for you: http://en.wikipedia.org/wiki/Autosomal_dominant#Autosomal_recessive_allele

    I wonder, maybe I should make a new post as a placeholder for "SMA questions" where people can post questions & answers as comments?

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  3. Hi Mike,

    Thank you so much for posting the SMA information. It is really helpful in starting to understand this dreadful disease. I am blown away by the "carrier stats" you provided.

    I think that that is a great idea to make a new post of SMA Info., Q's & A's. I think it will go a long way in helping to educate your readers.

    Thanks again,
    Sharlene

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  4. One thing I forgot to mention (probably the most important stat) is that when both parents are carriers, the chance of each baby having SMA is 1/4 (25%).

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  5. My dad died of an undiagnosed heart condition known as hypertrophic cardiomyopathy when he was 27 (I was 2). There is a 50% chance of the patient's children having the same disease. Miraculously neither my sister nor I have the disease, and thankfully this also means that we cannot pass it on to our children.

    Thank you for the article link, it was very well done.

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  6. This article is absolutely wonderful. Thank you for being brave enough to put yourself out there, to educate people about SMA, and to help raise awareness about this cruel disease. And thank you so, so much for mentioning the petition!

    I also wanted to pass on a foundation that you or your readers may find helpful. It is The Claire Altman Heine Foundation -- clairealtmanheinefoundation.org. It was started by an SMA family after losing their daughter to SMA type 1 and is solely focused on SMA carrier screening. It has a lot of really helpful information about pregnancy options for carriers.

    You guys are doing a truly remarkable job of raising awareness.

    Thinking of you and your sweet Georgia often,
    Victoria

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