Day #5-MN

July 1, 2011

Early this morning I got a call from Steve saying that he and Camryn would be in at 7:30. I tried my best to get ready quietly, go pick them up from the airport then be back in time to surprise Trey as he awoke. Mike and I call Trey a heat sinking missile when it comes to me and sure enough today was no exception. At about 6:30am, Trey was bright eyed and bushy tailed. We both got ready, let Mike sleep then headed to the airport. Of course Trey wanted to wear his Golden Gopher jersey and spray paint his hair maroon to match. Somehow Steve got the arrival time wrong by an hour so Trey was very anxious as we waited for the call from Steve. As we circled the airport, out of the blue Trey asked about daddy’s friend Mr. Dan. He said, “you know my police friend that tried to save the cat and fell in the fire roof? I hope he’s ok mom”. I am always impressed with Trey’s memory, add the compassion too…what a special kid! After dodging the airport security for stopping for too long and too many times, finally we get a call from Steve saying that they had landed. Needless to say, Trey was super excited to see his Uncle Steve and cousin Camryn.
Now he has his cousin here with him to coach him through today’s appointments and keep him company on the long drive up to the lake this afternoon.
Steve stayed at the hotel while Mike, Camryn, Trey and I headed to the University for our first visit. Camryn was very helpful with Trey from pushing the stroller, playing I-pod games together, and sure enough she coached him through his first test of the day; pulmonary function test.
I’m not sure that we got a good enough reading or not, but I can tell we are getting closer.
Appointment #1 of the day was with Dr. Regelmann (peds pulmonology and infectious diseases). The first comment the doctor made was about Trey’s cool hair…but of course! We began the appointment with talking about the results of the overnight sleep study that Trey took earlier in the year. I was beyond pleased to tell Dr. Regelmann that Trey passed this test will flying colors; no sleep apnea, receives sufficient oxygen, and reports of an unobstructed airway and uninterrupted sleep=nothing to worry about in this arena! The doctor reminded me that the reason for such studies in MPS children is due to the thickening of the airway tissue and that whenever a child snores, they will start with this study to rule out the sleep apnea and be sure that the child is receiving sufficient oxygen levels during their sleep periods to know that their brain is not being adversely affected.
Next he performed a thorough check up on Trey then began to ask specific questions about Trey’s daily activities. He questioned us about heavy breathing, shortness of breath, wheezing, etc. We informed the doctor that Trey had none of those issues, only those related to his severe orthotic concerns.
Dr. Regelmann was informative about the upcoming ERT (enzyme replacement therapy), Phase III. He told us that the reports from Phase I and II looked good and conveyed that the patients in the study were displaying chest growth and expansion of the chest wall. Mike and I have noticed a severe change in Trey’s chest plate and extreme protrusion that has formed over the last few years and have been tremendously concerned about his lung capacity because of it. To hear that the treatment that is on its way is working to improve this area of concern brought me to tears. He repeated what we already knew and what doctor after doctor have told us about MPS IV affecting the childs growth plates and cartilage. He was encouraging in that he felt that the ERT would help decrease the GAG that is suffocating these areas. We asked a few questions we had about the ERT then began to talk about the PFT results. Trey’s O2 saturation was normal meaning that his lungs were doing their job by carrying the oxygen to the blood and that his flow rates (amount of air in/out) was proportionate to his size, with no obstructions and that things seem to be in balance…always a good sign. Trey didn’t pass the actual PFT because he wasn’t able to blow out for a long enough period of time without taking a breath in. Dr. Regelmann said that only 50% of all kids Treys’ age can execute this test well enough to get a good reading. We will try again next year if not in Oakland in a few months. Dr. Regelmann asked about us having chest x-rays done on Trey, to which we haven’t. He asked that we schedule one for next year and also would like to take some blood to test the carbon dioxide in Trey’s blood. He told us there was no indication that Trey’s results would be anything but normal but that it is hard to know without a test. He did inform us that Trey’s lungs are filling well in his thorax but that his ribs aren’t growing as fast as his lungs and for that there is reason for concern. We ended feeling as good as we could about what we could know from what the doctor had to go on but we’re a bit anxious about the “what if” as Trey gets older without any bone growth. We will cross that bridge when we come to it and keep praying for the best for our youngest son.

Next and last meeting of the day (and week for that matter) was with Dr. Whitley. Dr. Whitley loved, loved, loved Trey’s hair and was happy to get a picture with him with the matching hair and Uof M jersey.
With Dr. Whitley we went over every appointment and every test result from the week and summed up each doctors feeling of such. We talked about the upcoming ERT and again what he had heard in relation to when, where and how. Dr. Whitley was very pleased to see Trey and to hear all the good news from our long week. He too recommended that if possible, Trey take part in Phase III of the ERT clinical trials. Dr. Whitley also recommended that Trey get a yearly MRI to measure the compression in Trey’s neck. He told us that we would not want to see loose or jostling nerves within Trey’s neck (atlas/axis area). His explained that we should be concerned with banging back and forth of such area (rocking=good/jiggling or sliding=bad). He told us to watch for Trey becoming very tired for no reason or for sudden numbness as opposed to him complaining about pain in the area as an indication of compression. The doctor also checked for clonus on Trey. He again explained that this is the brains signal to control the arms and legs. This reflex test tell the doctor if he feels Trey is developing clonus which would indicate a problem/pinching/compression in the nerves that run through the neck. We felt good about our final meeting and have to admit that we as well as Trey were “cooked”. As much as I would have liked (and felt privileged) to bounce medical questions off the renowned doctor in the MPS field, after all the good news I didn’t feel up to hearing about the future and all the frightening symptoms related to this aggressive disorder. We spent all the time we needed and asked all the questions we could handle at this point in our week.
I thank God for the week we had and honestly could not have asked for much better given MPS is a progressive disease. Because of the nature of MPS, we never go into this week expecting to hear anything but “stable” or “worse”…at least until a treatment or cure is found.