Blink of an Eye: Fraser Syndrome...Officially

Wednesday, August 5, 2009

Fraser Syndrome...Officially

Back in April, our geneticist, Dr. Curry, found a scientist in Germany who is currently studying the genes that cause Fraser Syndrome. There are two known genes that cause over 50% of the cases, but the rest of the cases are caused by unknown genes. Kc, Noah, and I send blood samples off to Germany for the scientist to analyze. Before Ryan was cremated we saved a few samples of his DNA, so we were able to send that to Germany as well.

On Monday, we met with Dr. Curry and she delivered the results from Germany. Noah officially has Fraser Syndrome. Both Kc and I have a common recessive gene, FRAS1, that we passed onto Ryan and Noah.

Coincidentally, we got the unofficial diagnosis of Fraser Syndrome from Dr. Curry on a Monday in February. Maybe I need to be more selective about the days I make appointments with doctors...especially Dr. Curry! I suppose, however, in a weird way it is nice to have an official diagnosis. As we continue to venture on the journey, God has provided us with everything we could possible need. We have amazing doctors, awesome friends, and loving families surrounding us each and every day. The answers we are seeking are slowly being provided and the help we need is always there. God is bigger than I could possibly fathom and loves us even more. Wow!

7 comments:

DebbieAugust 5, 2009 at 2:02 PM
I think that official news is a lot like wood floors; the good news is also the bad. With wood floors, the good news (at least in my mind) is that you can see every speck of dust and you know where to sweep. The bad news, of course, is that you can see EVERY speck of dust (and fur ball) and you know that you pretty much need to sweep all the time. With news like this, the good news is that now you know. And, of course, the bad news is that now you know. As one who has been there and done that with unofficial news becoming official, I'd have to say that my experience was that the impact was no less unnerving in either case. I guess the unofficial news might have prepared me for the official, but yet it didn't and I might have just as well have heard the official news from the start. It's no fun hearing stuff like this twice! In my case, God used my situation to show me that He HAS been with me from the beginning, even when I didn't know it. Hurray! I'm SO glad He did because now, my faith has only been growing stronger as a result. In your case, however, you already KNEW that God is with you and has been from the beginning. Hurray! And your faith, as you already know, will only continue to grow stronger. I ditto your "Wow!" because it is SO true that: God is good all the time...all the time, God is good!! Hugs to all!
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Betty SmithAugust 5, 2009 at 10:12 PM
Amen
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AnonymousAugust 6, 2009 at 12:00 AM
Our heart go out to you both at this "bad/good news" as Deb says. Now you know for sure and can deal totally with it. You WILL continue to trust in your Lord for support as well as your family and friends.
You WILL remain in our prayers dear ones. Your witness during this difficult time shows that you are truly children of God. It also shows us all how to deal with life that has presented you with MANY BUMPS in the road. Thanks for this!
YES, our God is an AWESOME GOD and where would any of us be without Him.
God bless you three and higs to all, Cousin Sue in AZ
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Mary AnneAugust 6, 2009 at 10:11 AM
And another "Amen" with love to all.
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The KapicsAugust 6, 2009 at 12:34 PM
What a journey you're on. Your faith and perseverance in the midst of trial is an inspiration to us all!
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BeckyAugust 8, 2009 at 10:44 AM
Having a diagnosis is always a comfort. I think it's because it gives us groundwork to stand on as we move forward in our journeys. We didn't know about your dear Ryan. Was he born a few years ago? Having our own two angels in Heaven, our hearts go out to you. We always say that not a day will ever go by that we don't miss them but we will always be thankful that they were entrusted to us for their short lives. Patrick's middle name was Ryan.
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AnonymousAugust 11, 2009 at 1:04 PM
Ok, I know this sounds cheesy, but in the words of G.I. Joe, "Knowing is half the battle!" May God use this knowledge to equip and prepare you for the road ahead. Prayers and blessings as you move forward from here.

Launa
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The Story

Our son, Noah Stone Jackson, was born with a very rare genetic disorder called Fraser syndrome. Among his many challenges are one “hidden eye”, a narrow trachea (which required him to have a tracheotomy), an imperforate anus (which required a colostomy), difficulty swallowing (which required a G-Tube for feedings), the fusing of his vocal chords (which means he may never speak), and club feet (which are being corrected with braces). Our family is on an amazing journey together. We are learning to walk along this path that God has planned for us, trusting in His infinite love and wisdom. We are taking each day (or each moment) as it comes and relying on each other, our friends and family, and our God for strength. We have a long road ahead of us filled with several more surgeries, lots of recovery, countless hours of therapy, and many trips to specialists around the state. Every day brings us challenges but they pale in comparison to the smiles and cuddles from our little man. Noah is our son, a true gift from God, and we cannot wait to see where this adventure leads.