WANT\vb: to have a strong desire for, to wish or demand the presence of.

I knew this all along…so why still does it hurt so bad?



This email came to us tonight from Dr. Whitley in Minnesota .

Dear Cami and Mike :

We have finished sequencing most of the GALNS gene causing Morquio syndrome type A. It appears that Trey has Q273X and Y385X mutations of this gene (presumably one from each of you). In the context of everything else we know about Trey, this is very conclusive diagnostic testing, and definitive proof, that Trey has Morquio syndrome type A.



I hope this helps, and will be back in contact very soon of the other items.



Warm regards,

Chet

Chester B Whitley PhD MD

Professor

Department of Pediatrics, and

Institute of Human Genetics

University of Minnesota





Over a year later and finally confirmation!



WANT\vb: to have a strong desire for, to wish or demand the presence of.



I can’t sleep…I want to hold Trey in my arms and make all the pain go away (for all of us)…I want to make it all better…I want a treatment, I want a cure!



I want to feel whole again, to have a life free from worry and fear, from sadness and pain. I know I will never know why but right now that is the answer I want. I want Trey to grow, I want to know that he has no pain…I want time to stand still…I want a treatment, I want a cure!



I want a clear head…I want my heart to live with peace…I want to fix all of this…I want life as I knew it before all this… I want a treatment, I want a cure!



I have a book that was recommender to me from a dear friend. Tonight’s email from Dr. Whitley brought all the pain and fear back into my heart like a rush of water that I almost feel like I can’t get my breath from. I took out this book/savior and turned to today’s date. This is what it read;

Surely I am with you always (Matthew 28:20)

Never look ahead to the changes and challenges of this life in fear. Instead as they arise, look to them with the full assurance that God, whose you are, will deliver you out of them. He will shield you from suffering or He will give you His unwavering strength that you may bear it. Be at peace, then, and set aside all anxious thoughts and worries.



With that I will sign off and (hopefully) go to bed…zzz



Thank you for caring the way all of you do!!!

Love, Cami

*the attached pictures are from “before MPS anything”