November 15, 2010

A piece to the puzzle.

"Smith-Magenis Syndrome"

The results from Genetics are in.
Mason has Smith-Magenis Syndrome.

What is it?
I don't really know.
We have a lot of reading and learning to do.
I do know it's rare and it has it's challenges.

Will Mason get funding?
I don't know that either...LOL

We have to prove that he will be dependent in three out of the four areas at three.
1. Toileting
~Yes he will still be in diapers.
2. Washing
~Yes he will still require someone to bath in the shower.
3. Feeding
~Yes he will still have a G-tube.
4. Dressing
~Yes he doesn't even put on his pants or shirt yet.

We are believing that God will provide.
That God has set this path and we are following it as closely as we can.

The process of getting funding.
We applied to the government on Oct 5, 2010.
We are to expect a call from a nurse to book an appointment.
There is two-three month waiting list for appointments.
Then a nurse comes and six to eight weeks later we find out whether he is accepted.
We still haven't heard from the nurse.
I will be calling again tomorrow for the third time.

How do we feel about all of this?
We don't really know yet.
We knew that there was something wrong with Mason.
It has become even more evident in the past year that this isn't going away.
If he has to have a Genetic syndrome I am thankful that it is one that can have a great outcome.

Mason will need support for the rest of his life probably.

I am ready to accept this?
No.

Is our fight for Mason over?
No.

Does this change everything?
I sure hope so.

This is a HUGE piece to Mason's puzzle.

Next week we find out if Autism is another piece.
I honestly think more now than ever it is.

I received an email from a Lady who has become a great friend.
This Lady was praising God, we had some answers.
An answer that isn't as bad as it could have been.
She reminded me that none of this was/is my fault, there's proof.
This Lady told me we fought & now we know a piece that we were fighting for.
There is so much more that she said that was right and I needed to here it.
She said she, "hoped I was not mad for her telling me these things...God was typing not her".
He works in mysterious ways.
I need to thank her.
I really need to hug her, but she is SO far away.

There is one other friend who let me type out my feelings all over them.
And I thank you.

Nick has been at work since before we found out.
I can't wait until he is home.
I do need a real hug.

Today, is not a sad day.
It is a hard day & tomorrow will be harder I am sure.
But we will get through this.
We will learn & we will help Mason learn.

Please go & buy this CD.
100% of the proceeds from the sale of this album will be used to establish a SMS Research Fellowship that funds a graduate student to study SMS and support the SMS community.


I have been listening to the songs for awhile now.

To learn more about Smith-Magenis Syndrome.

Maybe you can help us help Mason.

Thank you for your thought and prayers.

The Sears Fam

10 comments:

  1. I have said it 100 times and I will say it 1000 more, diagnosis is a sad and joyous day, we will mourn for what the diagnosis tells about the future of our sweet babies, but a diagnosis takes away some of the unknown, you now know you are 100% not to blame, you now know you are not insane, you now know specifically how to pray, you now know where to start!! I praise God for the first step in finding answers, but I also weep for what the answers bring. My prayers are with you Dana.

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  2. :-) I just love you- thats all

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  3. I'm glad for you that you got at least one diagnosis. Wishing you more answers and more solutions.

    xoxo, stark. raving. mad. mommy.

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  4. thank god for a point to move forward from
    always praying for you
    you are a strong woman and an amazing mother
    mason is so special
    and so are you

    lots of love to your family

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  5. sending you a lot of love. glad you have a piece of the puzzle solved & i hope this answer opens up the rest of the puzzle for you & Mason ♥ ♥

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  6. oooh Dana ... sad and joyous, as one reader said. There is a piece to the puzzle that has a name, and one step closer to getting help. Oh how I hope for you all ...

    (I would say more, there is so much in my heart for you and for Mason ... I'm just so stinking drained. Know that I think of you often ... <3)

    love & hugs

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  7. How do I say thank you to you all without being able to hug you.
    It has been a weird 24 hrs. I am numb, I have no words really. I think it truly hasn't hit me yet. I know Mason, but I don't know SMS yet.

    We are very thankful that we know have a starting point. It truly is a blessing in disguise, the good & the bad. I didn't really want to know my son has something life long. This is never going away. I knew, we knew but being confirmed makes it all real.

    Jess. Thank you for your words. Weeping right now, rejoicing to follow.

    Bonnie. God gave you to me to protect & guide. Love you too!

    stark. raving. mad. mommy. Thank you for your continued support, hoping next week will be another big piece to the puzzle solved.

    Family Sized Fun. What would I do without you. Never a dull moment & yet you are there when I need you. Thank you. ::Mwah::

    Devan- Thank you. You were one of the first people to reach out to me. I am so glad we have become friends & I think about your own struggles all the time. Praying for you.

    Kirsten,
    You need not say more. I know. You know. God knows. Praying for you. Sleep you must sleep. So much love to you.

    Dana Sears

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  8. I'm glad you finally have a diagnosis. At our former house, our neighbors had a lot of difficulties with their son. Right before we moved, their father informed us that they found out he has Aspergers Autism. He was so distraught and I said to him, "You have an answer. Now you can finally move forward."

    I can't imagine what you're feeling. I just hope that you have some relief in knowing where to go from here. Best of luck to you in your journey, Dana. It will be a long one. But, when you get too caught up in it, take a look at that sweet little face, squeeze those cheeks and know that he loves you for it.

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  9. First of all, he is so, SO cute! I am so glad that you have a diagnosis and that you all can start to move forward now. Someone on a message board told me once (while we were waiting for Nolan's amnio results - did you know he was supposed to have Down's Syndrome?) that even when you expect to get a genetic dx it will still come as a blow when you hear those words, when you get confirmation. Even though you expected it, it is alright to be upset. That said, as many other's have pointed out this isn't a bad thing. You already knew that Mason was going to need special help and now you are so much closer to getting that. Yes, he has a genetic condition, but thankfully one that isn't so bad.
    I'm here momma, if you ever need or want to talk. Anytime. ((hugs))

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  10. So happy to hear that Mason finally received a diagnosis - this will help put all the pieces of the puzzle together. I know how hard it is to have a child that is a medical mystery and I can only imagine how difficult it is to finally come face to face with a diagnosis. I will continue to keep your whole family in my prayers and I hope with this diagnosis, you are able to move forward. Keep up the great work!!!
    ((Hugs))

    Jodi Berndt
    http://alliesabnormalappetite.blogspot.com/

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