Natural History Study - Take 3

We have returned home after a long week of travel. We spent last Monday - Thursday in Minneapolis for our third (and potentially final) visit in the MPS IIIA Natural History Study. Once again the kids did great on the flight to MN. Kudos to Delta for holding the bulkhead seats for travelers with special needs. We were able to sit comfortably, knowing Oliver's happy feet couldn't reach the seat in front of us. We spent a few hours with some very dear friends and their children. Seeing them is one of the perks of participating in the study.

Tuesday is the day I dread the most in these visits. The day is spent doing developmental assessments - they are sooooo long. And I spend the evening filling out all of the developmental questionnaires. This visit I had 8 and they are books. We started the morning meeting with the primary doctor who is running the study for Shire Pharmaceuticals. He is so kind and we always enjoy seeing him. He gives the kids a pre-op physical and spends time talking with us about any concerns we have. We were actually shown some preliminary data that I found very interesting. In Sanfilippo Type A, there are many different genetics mutations that will diagnosis a child with Sanfilippo. In speaking with other families, it is fascinating to hear about diagnosis age, capabilities, what the kids are still doing at what age. There is a lot of diversity among the kids. I have even spoken with a mom whose daughter is in her 40s and has Sanfilippo Type A. By looking at over 25 children and comparing that to their development ages, they are able to differentiate which mutations cause a more severe case or those that are slower attenuating. I think this information will be incredibly helpful to parents as the prepare - school, therapy options, future plans, etc. 

We were also able to see a graph of the kids developmental age corresponding with their actual age. Even though names were removed and only participant numbers were used, we spotted Waverly & Oliver right away (we know their numbers). There was Waverly, at the very bottom of the graph for developmental age. And she was not the oldest child by far. Heart broken. She has remained steady throughout the study - no major drop off in her developmental age. However, they have her graphed at 8 months old developmentally. 8 months!! I wasn't surprised by her number, but I was so sad to see her at the bottom of the graph. She is the lowest functioning child in the study.

Later in the day, after the assessments were complete, we met with the lead doctor on the neurological side of things. She presented me with the most recent ages on the kids. Waverly's was no surprise - she is steady. Oliver's was shocking. 6 months ago he had a developmental age of 27 months and this visit he was at 18 months. The doctor was beyond surprised to see such a dramatic drop in only 6 months. This does not follow the pattern they see in the other children. Was it just a bad day for him? Was he tired or bored with the tests? Did I think his performance was accurate? I am just not 100% sure. He was most definitely not into the testing on this visit. His attention span is less than what it used to be. He just wanted to get out of the room and run around. He's a bit more hyperactive than before. They compared their assessment results with my questionnaire answers and there wasn't much of a discrepancy. We believe the developmental age is accurate.

Wednesday we were at the hospital for most of the day. The kids started at 5:30 in the morning. They had EKGs, MRIs, ABRs, Lumbar Punctures, and blood tests. They both did great!! They woke up from anesthesia happy and ready to eat popsicles. We spent that night in the hotel, since the kids tend to be wobbly for the entire day post op.

Thursday was another successful flight home.

I am still processing everything we learned from our visit. I am sure I will be writing more about the emotional side of this visit soon. I simply haven't had time to think about it yet.


The Leivas said…
9-10 months is my Olivia. She's always at the bottom too. I hope you don't think this is silly but sometimes I like to think of Wavely and Olivia as kindered spirits. (I've been reading Anne of Green Gables lately, can you tell). hugs
Anonymous said…
It sounds like that must have been so hard for you. I know what it's like to feel devastated like that, and it's totally unfair and awful. You're in my prayers.

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