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Ben Sorby

A way to keep our family and friends up to date on Ben's medical journey for a diagnosis. read about page

Latest journal entry

Mayo Clinic Appt.

I figured it was time for an update.  Some of you have been asking how Ben's Mayo appt. went, it's been a month, and we just heard back from them yesterday.

On August 25, Ben, Sam, and I drove to the Mayo Clinic in Rochester, MN to meet with a pediatric neurologist.  I was just looking to get another opinion since Ben's neurologist at Gillette's hasn't been able to come up with anything.  He supported this and even said how good she was.

She was good.  I even found out she is the #1 doctor in the country for "white matter" of the brain.  Perfect!  That seems to be where all Ben's issues are coming from.  She started his healthy history from the very beginning and was extremely thorough.  She was concerned that we had been told that Ben's white matter had stayed the same in comparing his MRIs from Dec. 2014 when he was 18 months old to the one he had in June, just days before he turned 3.  She said that is very uncommon and cause for concern if it truly had "no change".  Since Gillette's hadn't sent over the MRI results she said she would need to study them more in depth and she'd get back to us.  In the mean time, before we left, Ben had some blood work done and they took a urine sample to test for other various disorders.

Because Ben has an extended family member with PKU, she wanted to test Ben for that, even though his newborn screen came back negative, just to be 100% sure.  She also ran some metabolic tests and an amino acid, homocystine, as well as a lactate and peroxisomal panel since there is no history to suggest injury to his white matter.  She has asked about the smell of Ben's urine and since there is a strong odor at times, she also ran an amonia and organic acid test.  The last one was a mucopolysaccharide screen, since he has such extreme hairiness.  I know that's a lot of medical terms and I don't really even understand what they all mean, but for those of you in the medical field who understand them, I thought it necessary to include them.  :-)  In short, she had several disorders in mind and wanted to make sure she ran all the tests that hadn't been run yet.

So we waited for all the test results to come back and for her to review Ben's MRIs.  I got the write up in the mail yesterday. All lab work came back "normal" and after reviewing Ben's 2 MRI scans, everything appears stable, however his corpus callosum is small.  He still has low white matter in his brain, but the white matter that is there has "matured nicely over the time interval between the two MRI scans".

I called her office to see what our next steps were.  Her nurse told me that was it.  They'll let me know if any new tests come out, but as for now, they've exhausted everything they can test for.  She did suggest a full exome sequencing, but said to make sure our insurance covered it.  When I told her ours did not and that we've appealed it, she basically said, "well, good luck!"

I'm glad we went to get a second opinion, but now we're back to where we were before.  I'm stuck between knowing something is not right with Ben (scans and professionals have definitely agreed with me there) to thinking that I'm crazy.  What if I spend all that money for the genetic testing and it comes back "normal" too?  I guess at this point, I'm willing to take that risk.

Ben started preschool several weeks ago and now receives his special ed, speech, OT, and adaptive PE at school.  He also started PT to help strengthen his leg and muscles at a nearby clinic every other week (for now).  We have a follow up visit with his neuorologist from Gillette's in October.  I guess I'll see what he has to say, but for now, we're out of tests, other than the full exome sequencing.

My heart hurts.  I see Ben struggle.  It makes me sad knowing that his brain doesn't work like my other boys.  It really evident to me when I put him next to other 3 year olds.  He's a good boy and he's so sweet.  Justin and I check on him before we go to bed each night, as we do all the boys, and we sometimes just kiss him and smile.  Justin always says, "he's just such a sweet boy".  And that's how we always describe him.  It makes up for the times he's screaming at me, thrashing about when he's mad, and for days (like earlier this week), when he decided to fill the tub up with cold water and take a bath with his clothes on.  I'm tired...really tired, but I'm doing everything I can for him.

I guess at this point, we just continue raising him as we have, without answers, knowing that we may never have any reason for Ben's special needs.

Thanks for sticking with us!  I'll update from time to time if something else comes up!


***Thank you to everyone who has donated to Ben's gofundme account.  I just recently checked that page and I'm blown away by your generosity.  If you haven't received a personal thank you from me, please know that I intend to and I apologize for not doing it yet.  We are keeping that money set aside so we can keep saving up for the full exome sequencing!!