Hello,
Well two weeks to the day and I am just getting around to writing about our final day at the University of Minnesota and our “wrap up” meeting with Dr. Whitley. So sorry to leave ya’ll “hangin…
Friday with Dr. Whitley was so good for Mike and I. After hearing a bit of bad news the day before, to hear all the weeks good news from the doctors lips was just what we needed to put the week in perspective.
The x-rays of Trey’s brain was shown to us and explained in laymen’s terms that Trey’s white matter is normal. The computer technology from the MRI was amazing to say the least! Dr. Whitley could turn, flip, dissect, and move through the middle of Trey’s brain to show us every single inch of it in all ways possible.
Dr. Whitely also reiterated what Dr. Schwender from the Twin Cities Spine Center had said about Trey’s neck and upper spine, as he too was pleased that the movement within his two top vertebrae was limited.
Our goal this week was to initiate a number of studies aimed at defining Trey’s condition and planning an optimal treatment plan for his future. This included (in the doctors words):
1. Psychometric evaluation, Dr. Shapiro; normal development
2. Liver biopsy to assess for storage material, results pending
3. Multipule urine studies to assess for glycosaminoglycans, oligosaccharides, sulfated oligosaccharides and sulfatide levels. Initial study showed elevated urine GAG. Other studies to characterize various analytes are still pending.
4. Mutation analysis of the SUMF1 gene to asses for multiple sulfatase deficiency; currently “pending” in my laboratory.
5. Lumbar spinal tap to assess for increase intracranial pressure: Normal pressure found.
6. Skin biopsy to be grown for cultured fibroblasts, that will be sent to the laboratory of Dr. Jerry Thompson, University of Alabama , metabolic laboratory fro studies of several sulfatase enzyme levels.
7. Plasma and white cell enzymes to be sent to the laboratory of Dr. George Hoganson, University of Illinois, Chicago, for assessment of plasma sulfatase enzymes.
8. continue Naglazyme therapy intravenously this Wednesday per Trey’s regular, weekly, schedule.
9. HLA typing of patient and first-degree relatives.
Dr. Whitley’s assessment was as follows:
1. Continue Naglazyme enzyme replacement therapy. Perhaps this could be moved closer to home, especially if Trey has not shown any adverse reactions.
2. Discontinue “pre-meds” because Trey has not had any infusion reactions, and received a Naglazyme infusion without any ill effects while here, I think these medications are not required.
3. Monthly urine GAG levels sent just prior to an infusion.
4. Return to University of Minnesota in 3-4 months when all test results become available.
Our meeting with Dr. Whitley lasted a few hours and was everything we had hoped for, a “findings” session along with a “question and answer” session and finally a future plan was put in place. Mike and I believe that we are on our way to finding some concrete answers and couldn’t be happier with our new found “angel” ~ an early Christmas present to say the least.
After our meeting with the doctor we drove to my Grandma’s to spend the weekend with her, my aunt, my cousin and of course, Drake and Broc. We had a great time with my family and the boys up North. I have to say that we were all pretty disappointed that although snow did fall, it didn’t “stick”. I heard from my Aunt today that they just finally got 2” this past Friday.
Since we returned home we’ve got a bit of good and a bit of not so good news.
The not so good news is that I was right (Mom always knows best), Trey is not growing. The test results from Dr. Pulgreen, endocrinologist, came back and he is not producing GH (growth hormone). We have an appointment with an endocrinologist here in Arizona the first week of January. From here we will have a GH Stimulation test” run on Trey to see if he is GH deficient.
The good news is preliminary results are suggesting that there is no "sulfatides" in Trey’s urine. This is very, very good and points us away from metachromatic leukodystrophy-like problems being an issue.
We are not expecting anything further for a few weeks and both hoping and praying a very, Merry Christmas present!
Happy Holidays,
The Lanes
p.s pictures of MN. attached (that is Dr. Whitley holding Trey on his lap)
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