"May the God of HOPE fill you with all joy and peace as you trust him, so that you may overflow with hope by the power of the holy spirit."

~Romans 15:13

Wednesday, April 13, 2011

Results from Genetics Test

After MONTHS of testing. Blood draws for Lilah, Aaron, and myself. We have found MORE information. I guess.... Lilah has a deletion on one of her Chromosomes: She has ALL 46 chromosomes. (46,XX) She is a "normal female Karyotype." But, she is missing a little piece on one.... Here is her exact diagnosis: 14.42 MB Deletion at 8Q21.11->Q21.3 Interpretation aar 8Q21.11Q21.3(76,412,051-90,826,943)x1 Aaron and I had our blood tested too to see if we "gave her this" because there can be a familial variant. Meaning we could gave "given" it to her, passed it, etc. BUT, the results came back and we did NOT give it to her. Nor do we carry these genes. To date NO ONE. I mean not the geneticist, pediatricians, google, my research nothing and NO one can tell me what her "deletion" means. I have racked my brain and gotten madder, more frustrated, angry, upset, and my "fire breathing dragon" has come spilling out. No answers as to what or why this "happened." Also, no information on what her deletion means.
Lilah is just simply......LILAH!
Some of the research I did on chromosome 8 deletions mentioned higher risks of cancer, leukemia, and many other forms of life threatening diseases. For THAT reason alone, I want to know.... If, and I mean IF, her deletion means that she will only live to only 4, will face a death so painful, etc....I want to know. I would NEED to know.
BUT


If all that Drs, therapists, professionals alike will tell me is that she is "different", "delayed", "slow", "globally delayed", will work harder than others, will face more adversity, etc....I don't want to hear it! Not because I am ashamed, frightened, dumb, etc. Nope, that is NOT it. I don't want to hear she can't because THEY aren't God and I KNOW what HE CAN do. I know what He has already done!!



Lilah is perfect in HIS image. Perfect in HIS sight. Perfect because HE placed her in my womb.




If someone reading this wants to help me find out EXACTLY what this deletion is and it will HELP her....I would be utterly grateful. IF, it will help prepare me for her future, help me to teach her better, help understand her, empower her...PLEASE tell me what it means.




But, if I hear one more time that there has "GOT" to be a reason she is delayed or something else negative about my child, I may scream and you may see more than JUST my fire breathing dragon. So, please do me the kindness of keeping your negative opinions to yourself. Thank you.


Can you tell I have come to a great place of LOVE and acceptance of my girl? Yes, I have and THAT is all she needs! She needs me to LOVE her as she is...and I do. With ALL of my heart!!Thank you to those that LOVE her, pray for her, and those that LOVE this crazy Mama. We appreciate you!


4 comments:

Carrie said...

You, Crazy Katie, Momma and that sweet baby girl have my prayers and my love!

I think there is only one person that has the true answers ..... and all He wants from you is for you to CONTINUE putting your faith and trust in Him. He tells us that there are things here on earth and in our lives that we MAY NEVER UNDERSTAND, and we have to trust in Him! You are a Strong, Loving, Caring, Godly Woman and I know you are doing the very best for that sweet baby girl! You are doing a great job girl, keep it up!

Amber said...

We love you and Lilah and will always be praying! Every time I read something you write I am covered in goosebumps. Our loving God is so evident to me in her and you and your entire family!

Unknown said...

Well mama I believe you are right, some things just are and Lilah is just Lilah!!! I will be here to help all I can. Some words of hope...I did watch a show the other night where a family was trying to find a diagnois for their child that was originally diagnosed with Autism. Come to find out after futher testing, changing therapy types and changing doctors etc their child had a sensory issue....so you just never know what it could be, but I like your strength and determination to help her whether you have a definitive diagnosis or not, it's so AMAZING!!! We love you!!!!!

Sam said...

Hi Katie,

I have been following your sweet Angel's blog for some time now. I have a 2 year old little boy who has an undiagnosed syndrom, and we have also been navigating the world of genetics since his birth. I just wanted to let you know that there is a website called 'Unique', which you may already know about. The website is www.rarechromo.org. It was created by people who have been through the process, and aims to share information on a wide range of chromosome disorders, including deletions. There are leaflets of specific deletions, in addition to an email contact option.
With the formalities aside- I just wanted to say that your little girl is just gorgeous. Sending much love and prayers her way!