Monday, July 19, 2010

the results are in

We got the results from Jonah's genetic testing today. They didn't really tell us much we didn't already know. He has two mutated genes, which makes sense since JEB is a recessive disorder. Both of his mutations mess up his production of Collagen XVII. He produces some, but not enough. We have definitely ruled out Dystrophic, which is good news. The expert at the lab said he's most likely non-Herlitz (which we already thought), and will have hair, nail, and teeth issues in addition to skin (which he already does). He only has three nails out of twenty, his teeth are too small and are weak, and his hair is thin and thinning more. One of his mutations has been seen in one other person. The other has never been seen before. JEB is POINT five in a million. Jonah's mutations make him, well, just one. That's why the results don't tell us much. He is a more severe non-Herlitz, meaning that he probably won't grow out of it and it will definitely affect more than just his hands and feet (obviously). So what does it all mean? I really don't know. I know that I'm happy it's not dystrophic and I'm happy to get more confirmation that he's non-Herlitz (although it's a spectrum disorder and they don't really classify it that way anymore - Herlitz (lethal), non-Herlitz (non-lethal)). The truth is, regardless of what he's classified, he could get a deadly infection at any time. In that regard, classification means nothing. On the other hand, his trachea, so far, has been unaffected, and he's gaining weight well. These are both very good signs. There is a deep down part of me that was hoping they would say, "We've found his mutations. They're the same as this person and this person and guess what? They're grown, living healthy lives and only have to spot wrap." I know it was unrealistic but I really wanted that. And maybe he will toughen as he grows. Maybe he won't have to be wrapped forever. We really just don't know. So today's been a day of the "what if's" for me. But I'm just trying to refocus and concentrate on today. Because today is all I know I have for sure. And he's here TODAY.


HELLO?

Daddy, Is that you??? Hold on, I'll get her.

MOMMY!

Daddy's on the phone.

And still (and forevermore?) in love with his ball popper.

Jonah's gtube button change went okay today. He cried and screamed (heaving sobs) the entire time. But he didn't throw up, and as far as I know, there was no skin damage. Matt held his arms, the surgeon held his legs, and I changed out the button. I think it will go a lot better here at home. We have to change it out again in about four months, and we'll do it at home from now on. Next time, we'll snag a third person for dressing change and take care of it while he's already unwrapped. I think with video diversion and being on his own table, he won't react as much. Thank you so much for your prayers. He got really upset but recovered quickly. That's it for me. It's been a long day, and I'm spent. Goodnight.

27 comments:

Devon said...

((hugs))

i know you keep your perspective in that jonah is here today but i know its still hard...you amaze me! truly...you are an amazing mom!

and he has the most gorgeous eyes i've ever seen!

Laura A said...

That face and THOSE EYES are so precious. He is a gift from God! Praise God that the g-tube switch was reasonably smooth. I know you wish there were better (or at least clearer) answers on the genetic testing - thank God for Jeremiah 29:11!

Give that sweet boy a hug from his Team in TX - we all love him (and you!!)

Love,
Laura

PS - does he still prefer the purple ball?

Beth said...

Patrice, there are no perfect words to say to respond to that post...but I also didn't feel right not responding at all. May God give you incredible STRENGTH as you face each day. May He give you joy for each day of this journey as you love that little boy that He has given you! He is blessed to have you for his mother.

Sewconsult said...

What wonderful pictures tonight! Glad to hear that the button change went semi-well. I pray that God will continue to give you & Matt the physical & emotional strength that it takes to take care of that beautiful child! Loving is the easiest part, isn't it?
Beckie in Brentwood, TN

Michelle Found said...

Patrice,
God certainly chose the right parents for Jonah. You and Matt are indeed amazingly strong (through Christ's strength, I'm sure) and you are an inspiration to many, whether you realize it or not.
People tell me that I am strong, too; but sometimes I don't feel it. But taking things one day at a time seems to help. And that's what you seem to be doing. And sometimes it's moment by moment.
God bless you both as you go through this season, remembering that there is green grass in the valley!
And the above comments are right... Jonah's eyes are gorgeous!

~Michelle Found
Picton, Ontario, Canada
http://www.fiddlersfound.blogspot.com

Jessica said...

I have been following your blog for awhile and I have to tell you, he is the CUTEST THING! :-)

You both are amazing parents and you can see in his eyes how much he is loved.

momofJW said...

Love the pictures! My son will be 3 in August and he still loooooves his ball popper and plays with it all the time!

So glad the G-tube wasn't quite so bad .....I know it stinks to watch your child scream because they are scared or just don't want to be held down to do medical procedures....

All we have is today and you are so right in knowing that and just taking one day at a time. We moms can literally drive ourselves crazy with the what if's and what will life be like when.....
I too have to remind my self of that with my son who has hemophilia....granted it is nothing compared to what you are dealing with.....just know you are not alone in these feelings. I am sure you do. Your strong faith inspires me and I am so glad I found your blog.
Praying for you, Matt and Jonah everyday....
Much love

PS Can't remember if I have told you this or not but I was chinamoon1420 but from now on I will be posting as momofJW.

Jasmine said...

He is looking SO adorable lately! Oh my gosh!

Glad you are hanging in there with everything...

Kellye said...

Oh my goodness, he is GORGEOUS. Simply stunning...what a handsome boy! Those eyes are completely intoxicating!

I was also wondering if he is still in love with the purple ball... :)

We continue to lift up all of you in prayer! What a special blessing, what a precious gift Jonah is...

Mommy2Four said...

Little Jonah looks amazing... and although the results for the testing don't tell you much you didn't already know, I'm thankful you are getting some answers (and thankful that the ones you are getting aren't negative ones..).

I keep Jonah, and your family, in my prayers daily. I've checked your blog everyday since soon after Jonah was born, and it's been amazing to see him change and do so well! Before your son was born, I had never heard of EB. Now, it's one of three things I donate towards, and gladly help raise awareness for. Craniofacial anomalies (as my daughter is affected), pediatric cancer, and EB.

Jonah is an amazing little boy, who is going to serve a special purpose and do amazing things... you can see it in his eyes! :)

God bless you guys!

dee said...

He is beautiful - he looks like his mom! WSYL let us (ACYL) borrow the van for a trip in August and we (committee) appreciate it SO much! Thank you. :-)

Y Mama said...

Yes, he is here today! And he is AMAZING and BEAUTIFUL! AND GROWING!! You are a wonderful, giving, caring, sharing, beautiful, spiritual person and mom!! May God bless your every breath.

The Oxford Family said...

He is here and appears to be the happiest boy in the world!

Mindy said...

He is such a cutie, Patrice.

And that ball popper... My 4 year old still loves and I cannot think of any age child that has come over to the house who hasn't loved it, including 10 year olds. It is great!!

Think about you often. Love You!

Julie said...

I think I dislike hearing "we're not sure" more than I dislike hearing "this is what it is and it's not great"...
I can't relate to your specific issues, obviously, but can relate to being in the "wait for test results for my baby" mode and it sucks when they aren't very informative.

Anyway, all that to say, you are right to focus on the good that is in TODAY! That is the only way to really get through sometimes.

Jonah's a cutie!
~Prayers as always~

Brenda is SO Blessed said...

Patrice, i read often (maybe not so much as a stalker--but then again maybe as much as a stakler LOL) but comment rarely. I have known from the beginning that Jonah is 1 in a million.. the genetic testing just shows that he is 1.... and Jesus loves him as if he were the ONLY 1
I am so thankful you have opted up to tell us about this disorder and teach us what it is. I am a nurse and had never heard of it until I ran upon your blog.
know that I keep you all in my prayers-- because the 1 who loves you without reserve does not need my reminders about Jonah**HE already knows
Love,
Brenda

Emily said...

you're right, all we have is this moment. And thank god that in this moment you have a happy, thriving, smiling, beautiful little boy!

Aimee said...

Hey there, sweet girl! Those pictures brought tears to my eyes! I am in Charlotte tonight and will be keeping Macy for Suzy tomorrow while she goes to work out and visit her dentist. Jonah is so precious! I know there are still SOOOOO many unanswered questions, but Father has been with you all along and it says in His Word that He will not leave you nor forsake you. I will be in touch with you later this week. I might bring Emily over on Friday. Love you! Graimee

Toni :O) said...

Awww...he so adorable and sweet and those blue eyes continue to wow me! You are obviously doing something right because he continues to thrive even with his condition...keep up the great work Mom and Dad..we're all pulling for ya!

Claire said...

The pictures with the phone? Are just adorable! I'm still praying for you guys and sweet, precious Jonut!

Cxx

Lari said...

Still praying for you! He's such a doll! Is the purple ball still his favorite?

jenn said...

his eyes are such a ray of light. i hold out hope that he will out grow this one day..he is a handsome little boy

Wanda Wilkinson said...

He is here today, growing, healthy & a smart beautiful (handsome) young boy.

He is one a million--the reason God is going to heal him,. I have said it many times, but God has truly laid it on my heart that He is going to HEAL Jonah.

Jonah is thriving on all the love that surrounds him. The love & happiness shines in his eyes & face.

Love the pictures..sorry to hear about the blister on his hand, but that hasn't stopped him..

Lots of love & prayers sent your way

BLOOM - Parenting Kids With Disabilities said...

He IS here and he's gorgeous! I loved seeing these pics of your boy.

I produce a magazine on parenting kids with disabilities/special needs. If you send me your snail mail address, I'd love to send you some back issues. My email is lkinross@hollandbloorview.ca

You can also follow our blog at:

http://bloom-parentingkidswithdisabilities.blogspot.com/

My son has a rare genetic disorder called Langer Giedion Syndrome. I'm not familiar with JEB and interested to learn more.

Perhaps you can write a guest blog for us.

You have a beautiful family. Cheers.

Laura said...

He is just too cute!!!

the-mommy-person said...

And I'm so glad he's here today! Hugs, love, and prayers!

ashpuck said...

He's here today and precious as ever! I'm so thankful you share him with us. Praying for you, Jonah and Matt, for many many more precious days together.