Saturday, April 14, 2007

My story

...My story starts on 13 September 2006 in Bucharest, the place where I first time saw the beautiful and kind face of my mami, the light of the sun, the joy of my father (because he wanted me so much) and of all the people that where waiting for my arrival.


Until my third month everything was going just perfect. Nobody had even the smallest clue that something was wrong until first sign put my parents in alarm mode:

My legs could not completely extend (Arthrogryposis?).

We went to doctors and after some preliminary investigations (neurologist, orthopedic, medical imaging) where done the suspected diagnostic was: Artogryposis. Actually more joints seemed to be some how gripped but the most sever problem was with my legs.
We started physical therapy (massage, water therapy) and in a couple of weeks I completely recover my mobility in all my joints. However the doctor neurologist that was seeing me had concerns regarding my muscular tonus and some other aspects seen as alarms in a clinical examination. Maybe it is because my articulations where gripped and the muscles where not used or it is a neuromuscular problem? He sent us to do some tests to verify if there is a muscular problem:

It is Muscular or Neuromuscular problem?

The neurologist doctor that was seeing me sent me for a set of tests to identify the cause of this problem:

  • First tests where for LDH (lactate dehydrogenase) and CPK (creatine phosphokinase). The values from the results where a little bit over the normal values, however not alarming. It was anyway an indication that we had to search in another place. The probability for a muscular dystrophy is now smaller.
  • The next one was an EMG (electromyogram) test. The EMG helps to distinguish between muscle conditions in which the problem begins in the muscle and muscle weakness due to nerve disorders. The test result was the path was neurological possible.
  • A biopsy probe deltoid muscle was taken from me, and I waited for 2 weeks for the results to be available. And the result was not good....not good at all. The diagnostic written there it was Spinal Muscular Atrophy - Werdning Hoffman.
  • I could not believe that the diagnostic is for me so I made another test. The genetic test for the Exon 7 and 8 of the SMN 1 gene. The result came after another 2 weeks and was not doing anything else but to confirm the diagnostic above: It is a "homozygous deletion of the exons 7 & 8 of SMN 1 (LOCUS 5q 12.2-q13)." i.e. Spinal Muscular Atrophy type 5q with early onset.
Is there a cure available?
All the doctors we are speaking with give me no more than 24 months to live, because there is NO cure for Spinal Muscular Atrophy. The only things that can be done for me is physical therapy to keep my physical condition as long as possible (2 years).

I created this web log with the hopes that:
  1. Somebody that already knows how to cure this disease will read this and will let me know what needs to be done.
  2. To serve as help for other people that are fighting with the same disease
Although I have people that loves me and that are looking (night and day) for a way to heal me, I know that even if they will not succeed, because they are so small, God is looking at me and He will make possible for me to live a beautiful and rich life even this will be short here on earth...

AAA

14 comments:

Andrei said...

Alesia,

I am confident that you will win this battle, because there are so many people that truly love you and want to see you doing amazing things in this life.

Stay strong and win!! We are all here with you!

Florian said...

Hi Alesia,

I remember that one day you told me this sad poem...

Cruzimea vieţii

Cât de crudă este viaţa
Cât de dură poate fii,
Te loveşte peste faţă
Nu te-aştepţi, dar într-o zi...

Ai sperat mereu la bine
Ai visat c'ai sa traieşti,
Dar nu ţine doar de tine
Ti-ai dori sa mai iubesti?

Cât de crudă este viaţa
Crezi în ea şi ea te'nşeală
Mai subţire ca şi aţa
Te răpune ca o boală.

Ai crezut în ea mereu
Si-ai trăit s-o simţi cu tine
Ai crezut în Dumnezeu
Si-ai iubit să-ţi fie bine.

Dar când şansă n-ai avut
Când viaţa nu-i doar a ta,
Atunci ce ai fi făcut?
Inapoi să ţi-o poţi lua.

~~~ translated in eng ~~~

Cruelty of life

How cruel life is...
It can be really tough!
It slaps you in the face
When you expect it less…

Your hopes were always up,
You dreamed of a good life,
But it ain't just up to you.
Do you still want to love?

How cruel life is sometimes...
Believed it and betrayed you;
Thinner than a spider's web
It knocks you down like illness.

You have always trusted it
And you lived to really feel it,
You have always trusted God,
You've loved it with your whole heart!

But when you are born unlucky
And your life is not yours only,
What is it that you would do?
Just to take it back to you.


I know how hard is to think to life like this, but I really know that all of us are fighting for one reason: we love you more than anything in this world. Fight with us and God will pray for your life.

Daniel said...

Hi Alesia,

My heart goes out to you and yours. I will add you to my prayers...

Be strong....

patricia said...

Dear Magda (a.k.a Mami) and dear Alesia,

Our prayers are we you and your Mami and Dady. Please have hope and belive in your future and believe in God's miracles.

I hope my boy to be will meet you one day and perhaps will laugh and sing together.

We are all here with you!

ruxandra said...

Dear Alesia,
First I have to tell you that you are so beautiful and your story impressed me very much.
I'm very sorry to tell you I don't know anything about this problem you have, but you'll have to be strong and hope that this "story" will have a happy end.
Please inform me about your progreses and be sure I'll pray for you every day since now.
Also, tell to your parents to be strong and to hope that God will answer to all our prayers.
I'm very sorry that I can not help you in any other way, and I also hope (like Patricia) that one day you will meet my kids (Andrei&Rianna) to play games together.
You'll have to win this battle for you and for your parents.

Parama said...

Hi Alesia,

I pray to God that you will live for a long long time, that you will slowly learn about the wonder called life. May your smile never fade away.

-Parama

razz_Zala said...

Hi Alesia,
You are in our prayers.
Stay strong and have hope!

Coca said...

Dear Magda and Alesia,

AVEM...
Avem ganduri curate,
lumini in ochi si
zambet pe buze...
Avem soare in suflet
si bucurie sa daruim...
Si toate acestea
la un loc
formeaza iubirea... iar ea, iubirea, invinge orice obstacol,

Cu toate gandurile bune sunt alaturi de voi !

WE HAVE…

We have, we have pure thought,
hopes(lights) in the eyes and
smile on our lips…
We have sun in our soul
and joy to give....
And all of these together is love....
love is the one which is defeating any obstacle

I'm with you wishing you all the best!

L.D. said...

Dear Alesia,

I didn't received any mail from your parents about you and i still search for some good doctors here in Germany...How are you??? How are your legs now???

Many kisses from me, Lili

sular said...

alesia, ce mai faci, cum merge treaba?

Laura & Keith said...

Alesia,

Our prayers are with you and your family. May God bless you and help you through this!

Oana said...

http://www.stemcellschina.com/content/view/361/177/lang,ro/
Si noi ne rugam pentru tine si familia ta...sa fiti puternici si sa invingeti aceasta incercare grea.

erika said...

Mult curaj in continuare! Draga Alesia esti o fetita foarte frumoasa, cuminte si rabdatoare... ma voi ruga pentru tine sa te poti bucura de parintii tai minunati si ei de tine! Dumnezeu sa va ajute! M-au emotionat foarte mult pozele, filmuletele; imi pare sincer rau pentru suferinta voastra... ma voi ruga pentru voi! sunteti un exemplu pentru mine, care am o fetita sanatoasa de 1 an si ma plang de una alta...iar voi va luptati cu o suferinta cumplita indurata de o fiinta asa pretioasa pentru voi... oricum eu am indragit-o pe micuta Alesia si o voi purta in inima. Dumnezeu sa-i dea mult curaj, putere si multe clipe de fericire si evolutie favorabila! Un gand cald...

Helena + Helge said...

Hello Ana Alesia,

I am mother to Vivienne Annika (3 years) who has SMA Type 2.

Her blog is http://vivienneannika.blogspot.com/

We just wanted to let you know how brave and beautiful you are. Keep fighting as we are very hopeful that help is on its way. Vivienne is participating in clinical trials and did get an injection of the ISIS drug last June. She seems to have regained some strenght. Although only time will show we are very hopeful that this drug may in fact do something. Please feel invited to follow Vivienne's blog for updates and if you like leave your e-mail address on Vivienne's blog (we will not publish your comment) and we will send you articles about ISIS if you are intersted.
Keep fighting. All the best for you and your family.
Helena (V's mom)