Hi everyone,
Again, it’s been awhile since the last update…I’ll explain.
Our meeting with the specialist in the MPS field,completely took the wind out of our sails and had taken me “out of the game” for the past two months...I have been a nervous wreck to put it mildly!
The doctor informed Mike and I that because Trey presents with so many skeletal symptoms at such a young age that he thought Trey had a rapidly progressing form of MPS VI. Mike and I just looked at each other in despair and disbelief. In our opinion Trey doesn’t look like the pictures of the children that represent MPS VI on their web site so to us this news was deplorable. Another sample of Trey’s blood and urine was sent to the lab along with the original (frozen) sample from before the very first infusion to find out Trey’s GAG levels (an indicator of the build up in his system) and if in fact the doctor is correct in his predictions. We were told the results would be back in two weeks…we are now working on 8 weeks!!! Another reason I was putting off this update. I was hoping to report the GAG results in this update…no such luck.
The main reason I put this off was because I’M NOT STRONG!!! After the doctor took a look at Trey’s charts, he informed us that we needed to have another blood test run on Trey to eliminate the possibility of another absolutely heartbreaking diagnosis. He called it Multiple Sulfatase Deficiency and honestly I don’t know much about it because I don’t want to know about it. What he did tell us was that if Trey tested positive for MSD, he would have a combination of MPS II, MPS VI and MLD…I thought I was going to die. We knew how debilitating MPS VI could potentially be to Trey’s little body but we were now being told that if he has MSD, he will have MPSII which affects the brain (the one thing MPS VI doesn’t affect) not to mention the extreme symptoms of MLD. I was told that the results would be back to us very quickly, within two weeks…are you kidding 2 WEEKS!!! To a parents heart that seemed like forever. What ever happened to over nighting it and getting results the next day??? I know the technology exists but obviously not in the cards for us. We gave the blood sample on Thursday and on Monday I was informed that the samples weren’t shipped overnight! We couldn’t give another sample the next week because of the 4th of July holiday hours that week and the following week we were in Michigan on vacation. FOUR weeks later we gave another sample which again we were told would only take 2 weeks to get results from.
The unknown has been eating me up inside. “Please God not more” was all I could think. They say that God only gives you what you can handle well, I honestly felt that I wouldn’t be able to handle this blow. I have been “numb” for weeks, so afraid of the unknown. I couldn’t believe I was having to go through this process of getting diagnosed all over again. As if the wait wasn’t hard enough the first time! For those of you who remember the first time we gave blood and urine to originally diagnose Trey for MPS VI, the samples were misshipped, lost, broken vials, not enough (all the reasons they gave to us) and again we couldn’t get them to the lab the following week due to the holiday’s. Too much of a coincidence…I have been scared to death. I didn’t give an update because I wasn’t strong enough. I wasn’t strong enough to handle all the calls and questions, questions that I had no answers to. I seriously didn’t know how I would live through this one.
EIGHT weeks later and the results came…we are so extremely relieved to report that Trey does not have MSD (Multiply Sulfatase Deficiency)!!! For the first time I am happy to say our baby has MPS VI and only MPS VI! Thank God for this news :o)
Trey is still doing magnificent with his infusions…our perfect patient. Mike and I are becoming concerned with the fact that Trey hasn’t grown an inch or gained a pound for months and will be addressing that issue soon. We realize that one of the symptom’s of MPS VI is a form of dwarfism but, some patients have reported that the Naglazyme infusions have jump started their growth so that is what we will look into (dosage, timing, age etc).
The MRI results are still yet to be known…I am so unimpressed with the medical field (go figure). I can’t believe we pay all the money we do when I feel like I do half the work!
We still have no monetary result from “Vegas nights”and are still working on getting the bank’s “match” from the Memorial Day golf tournament. But I am happy to report that the 4th of July watermelon booth at the Tempe town lake was a huge success (thank you James)!!! The money from that fundraiser has been sent to the MPS Society and we feel great about it! I will be forwarding each of you a flyer from our next fundraiser, “Trey’s Treasures Chest for Hope” fundraiser will be held at the Tempe Mission Palms on Friday, September 12th…look for the flyer in your in-box following this update. Dan and Robert are putting this on for us and the job they are doing is incredible! The prizes, the place, the menu, and the media...over the top! If you or anyone you know of would like to join us, ticket sales are going on now, please check out the flyer.
And last but not least…NORD (the National Organization for Rare Disorders) have approved us for the financial assistance of Trey’s infusion through 3/09!!! I guess the third time truly is a charm :o) Mike and I are ecstatic to say the least! We understand that this is only a temporary fix and are still “fighting this fight” and continuing with the fundraisers to raise money to donate to the scientist’s and researchers in order to help find a cure! We are so happy to be given this assistance to turn around and able to be a part of the bigger picture!
We are so appreciative of all the care and concern, thank you!
XOXOXO,
Cami, Mike, Drake, Broc and Trey
Attached are pictures of the boys in Michigan (it was so great to get out of the heat) and of our littlest angel praying…too cute
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