I'll keep this post short, but I thought I would take a minute to explain why we have decided to travel to take our boys to specialists in other states. Right after learning of Jarod's diagnosis in March (and learning that this disease has no treatment or cure), we learned that there is a doctor at the University of Minnesota (Dr. Chester Whitley) doing a Natural History Study on MPSIIIA (exactly what our boys have). I called the University in hopes of getting Jarod into the study, only to find out that they only had funding for 25 children...and Jarod was #26. The study is in preparation for a possible human trial (intrathecal enzyme replacement therapy) which may happen in the next couple years. There is currently a Phase I and II trial happening in the UK and Netherlands and if the results look promising, Dr. Whitley will do a Phase III trial here. We wanted to go ahead and get Jarod plugged in at the right place. When we go to Minneapolis we meet with a whole team of specialists (genetic, cardiology, neuropsychology) who see MPS children every week. That's something you just cannot find here. Being that Jarod didn't get into the study, however, means that we have to fund these trips ourselves. We will now be taking Caleb there for his baseline testing January 22-27, 2012.
Also, in researching the disease many months ago I came across some information about a doctor doing a study on an experimental drug at the Children's Memorial Hospital in Chicago. We took Jarod to see Dr. Barbara Burton back in late April and were able to get him in. However, this study has very limited funding so we also fund these trips ourselves (much cheaper than Minneapolis!), but although the first batch of the drug (genistein) was provided for us, Dr. Burton has since run out of funding and we must now buy it ourselves ($1,000 per child every six months - and that's getting it at cost). We have been so blessed by all of the fundraisers and donations which make these trips a reality for us without all of the stress of figuring out where the money would come from otherwise. Thank you so much for that!
So...how are the boys?
I get this question a lot now and I'm never really sure how to answer it. I usually say "fine" or "they are doing well", but that's not really the truth, is it? However, I certainly don't want to make someone endure the long, hard truth of the reality of our life now. I don't want to get into the in's and out's of the disease, the damage it has done so far or the damage it will do in the future. So here is the real answer to "how are the boys?" if you care to read on:
My boys "look" healthy. They talk and run and play and act like boys. They played soccer this fall and love to ride their bikes, but there is so much going on in their little bodies on a cellular level - and damage is being done little by little, day by day.
What has Sanfilippo done to Jarod already?
- Many ear infections as a baby (had tubes placed)Asthma (starting at age 1 1/2)
- Moderate high-frequency hearing loss (he wears aids)
- Speech/Language delays (recent testing is already showing the start of decline here)
- Cognitive Impairment (his IQ used to be 68 or so, now we are looking at high 40's)
- Growth retardation (He has fallen steadily from 50th percentile for height to 25th to 10th to 5th and now below 5th over the last five years)
- Liver and spleen enlargement
- Thickening in one wall of his heart
- Behavioral issues (aggressiveness, tantrums, HYPERactivity)
- Joint stiffness and pain (we're already noticing that running seems to be more labored for him)
- Obsessive tendancies (he has a thing for books right now...he's in and out of the library at school many times during the day and has bags and bags of books that he puts together around the house)
What has Sanfilippo done to Caleb so far?
- Moderate high-frequency hearing loss (he was fitted with aids this summer)
- Speech delays (much less severe than Jarod at the same age, but there is already a gap between his expressive and receptive language) He is now starting speech/language therapy.
- Some hyperactivity (although, again, not as severe as Jarod - now or or at the same age)
Jarod keeps us busy. Once he's up in the morning he is non-stop until he goes to bed. He is into everything. Some days I think his little brain just needs to live in chaos. He dumps toys out everywhere, throws games and dvd's all around like frisbees, writes on/in things he shouldn't, tears pages out of books, makes a mess with food and drinks, etc. It's a full-time job cleaning up in his wake as he goes through his day. Caleb doesn't share these tendencies, thankfully. He's my kid that loves to play the Wii, read books, do puzzles, use his imagination with his Playmobil toys, create things with Play-Doh, etc. He just acts like a bouncy, smart five-year-old.
So...that is "how the boys are". :) Even with the delays and health issues that Jarod has experienced already, we are constantly reminded that, in the context of Sanfilippo, our boys are doing quite well at the present. They talk to me every day. They laugh every day. I get hugs and kisses every day. For that I will remain thankful. And I will continue to just take each day as it comes.