The unknown is what is the hardest

Where to start?

This past week has been a bit tough on me as my thoughts race into the “what if” arena by the minute.

After seven months of trying to get Trey’s MRI read, it finally happened this past Wednesday. The neurosurgeon stated that from reading Trey’s MRI the situation looked very troubling. Trey’s C1 vertebra (atlas) shows that it is much smaller than it should be. Because of it’s small size, it has slid inside the base of his skull (foramen magnum). The doctor explained that the C1 and C2 should be stacked one on top of another but instead Trey’s has been forced forward and that his fear is that Trey’s spinal cord is being pinched. We were told that this situation could be very dangerous in relation to movement in Trey’s arms, legs and breathing. We were advised to repeat Trey’s MRI along with performing a CT Scan. So much disturbing news was being delivered to us as the doctor read Trey’s scan. Upon finishing reading the scan, the doctor asked Mike and I if Trey walk’s? ”Does he walk? HE RUNS” we stated in unison. He then asked if Trey has a grip? “A grip as strong as a gorilla”, Mike said. Mike also mentioned that Trey was potty trained. The doctor looked up for the scan and I quote said, “He’s doing very well, I would hate to treat a scan rather that a boy”. So, as scary as the scan itself read, Trey is proving them wrong. Only now I am now so afraid of the “one wrong move”. Once again we will have to wait for results from yet another test.

Speaking about waiting for results…after seven months into Trey’s infusion we are informed that Trey is not responding to the Naglazyme infusion (Enzyme Replacement Therapy). Trey’s beginning urinary GAG level taken February 19th was 264 and four months into infusion, June 26th, were reported at 300.9! As you are all well aware, I have been asking for these before and after results religiously. After an email to Trey’s geneticist stating that this wait was “ridiculous” and requesting for the phone number to the lab, a phone call came this past Friday from the doctor himself.

De ja vou…troubling news. Only this time we were being told that not only was Trey’s body not responding to the medicine, that to the best of their knowledge it has never taken this long for a patient’s GAG level to drop...noticeably! We were informed by the drug company, Biomarin that after receiving the ERT the results are almost immediate in every patient they’ve had. SEVEN months and how many thousands of dollars later we are NOW being told that the once a week, seven hour day infusion’s aren’t working! I’m so confused at how (because we’ve learned first hand, more than once!) the blood can become contaminated within hours of being taken but can take three months to produce results from??? I am becoming a “pit bull with lip stick” for the sake of my son’s survival!

Now the fun begins. Does Trey have MPS VI only or was the diagnosis incorrect or incomplete? Is the medicine being denatured (mixed wrong) causing it to break down, therefore not being effective? Is it being administered correctly? Was the blood once again mishandled, contaminated, or stored incorrectly for all those months? These are all the questions the professionals are now looking into. In the meantime, Mike and I get to play the waiting game. The unknown is what is the hardest, and again, the “what if’s” break my heart.

At this weeks infusion we will be redrawing blood and recollecting urine from Trey to repeat for GAG levels and relook at urine for pattern of excretion. The next day our family will be headed to MN to see a specialist in the field of Lysosomal Storage Disorders. We are so excited about this appointment and at the same time very anxious about what we will hear this time. It is our hope that while we are in MN, Drake and Broc will be tested to see if they could be a possible match for Trey in the event that a bone marrow transplant would be an option.

Please continue to pray for our baby as our journey continues…

Love,

Cami Mike, Drake, Broc and Trey

p.s. attached is a picture of the anatomy of the spine and two pictures from Trey’s first day of preschool