Well we got Em's lab results back today. The results were positive for TSC. She has a deletion on her TSC 2 gene. We knew that this result was coming, but of course were hoping for a negative result. And even though we were not surprised by the news, we are sad. I was actually kinda surprised that I was sad about it- I knew it would be positive, however, I guess that doesn't make the burden any less big or the sadness any less real to hear the news for sure. I was at coffee with friends when I got the news and I wasn't even able to keep it together and not cry. Good thing these were good friends...and even though they weren't crying-their hearts were breaking with me. I am so thankful to have a community to support us, walk with us and help us get through all of this.
So after hearing this news I asked CMH genetics to check out how much it would be costing to get Dan and I tested to see if we carry the gene or if this is randomly occurring.
Em's test was 8857.00 yep you read that right EIGHT THOUSAND EIGHT HUNDRED AND FIFTY SEVEN BUCKAROOS....luckily hers is covered by insurance-however, our test won't be (most likely) because they don't generally find it medically necessary to test us (our procreation isn't on their priority list I guess). So I have been in a bit of a panic about our tests. I mean who can afford to pay almost 18k for a blood test. Not us. I have said a lot this last week that Emmaus may have to be our only child (biologically at least). And every time I say it it taste like VINEGAR coming out of my mouth. Today the genetics people checked on the cost of the test for me. 475 bucks each. AMEN, HALLELUJAH, PTL, THANK YOU JESUS! Less than a thousand bucks!? We can find that money. I can't believe it! The lab is WAY less complicated than hers thus much less expensive. Our labs might come back positive and we may not have anymore babies, however at least then we know and I can begin to reconcile to the thought of only having one biological child. But not being able to afford to find out...that would just stink.
So here is where we are at.
-Em has a positive diagnosis of TSC
Her current symptoms include
-cardiac rhabdomyomas (tumors in her heart- which we see CMH cardiology to make sure there are no complications that form over time)
-Ash leaf spots (spots of hypopigmentation that she has on her legs)
-shire green patch (which is a orange peel feeling spot on her wrist)
-We have an MRI of her brain scheduled for August 29th to see if there are any brain tubers
-Dan and I will have blood work drawn to see if we carry the gene or if this is a randomly occurring case.
We are so thankful that so far she is developmentally normal and and very happy baby at that. We ask that you pray with us that she would have no further symptoms/complications. That her brain and kidneys would be protected and that she grow up to be a healthy little girl.
We are thankful that the lab work is not 18k and that is a much more affordable 1000 bucks. We ask that you pray with us that her case be a randomly occurring case so that Dan and I can fill our home with babies- This is truly the desire of my heart and God's word says he cares about the desires of our hearts.
We are thankful that we have found out her test is positive and have gotten her scheduled for an MRI so quickly. Please pray with us that she is able to be swaddled and stay still for the MRI and that she wouldn't have to be sedated. (This request is for my peace of mind) And then of course pray with us that she not have any brain involvement.
Pray for Dan and I to make good medical decisions for her and that we would have good council on how to best proceed and move forward with her care.
If you are not a praying person, we still appreciate that you care about us and our daughter enough to check in and see how she is doing. Your support in that alone means a lot to us.
Here is another way you can help!
I have an etsy site that sells headbands (THEY ARE SUPER CUTE IN MY HUMBLE OPINION!) and there are a bunch of new designs. By purchasing a headband for your little girl you can do two things.
1. You can help our friends the Kautzi's bring home their baby from Ethiopia- they are adopting and 50% of the profits go straight to their adoption fund.
2. Help us pay for our lab test- like I said before it is 1000 bucks and although that isn't a huge sum of money- it is still money. The other half of the profit will go towards paying for our lab tests.
See- buy one headband and two families benefit in big ways! (cough- if you buy two or more you get free shipping, or if you can pick it up or work with me I will give you the shipping cost as a discount!)
AND your daughter will look super cute in her little headband!
**IF you have a baby I can also make all the headbands with elastic instead of a rigid headband!
If you are only going to do one thing. PRAY. We believe in a God that can heal our daughter. That will heal her. Even if we have a journey to get there.
And that's all for now.