Wednesday, August 14, 2013

Our Chicago Trip Pt. 1

I apologize for how long it has taken to give an update on our trip to Chicago. We had such a busy week and weekend that I wasn't able to finish my thoughts and the last two days have been so exhausting that we have been going to bed very early. I would also like to wish my dad a happy birthday before I get too far into the message. We rarely get the chance to sit down and celebrate birthdays and holidays the way we should but I would at least like to thank him for everything he's done for me, from day 1 to now.

We left for Chicago from the Omaha Amtrak station shortly after 5 on Monday morning. The train was really our only option as Landon was not cleared to fly and he can only tolerate the car seat for a few hours at a time. We were pleasantly surprised by the ride. We were given a sleeping car so that we had access to an outlet for Landon's feeding equipment and were very comfortable for the duration of the trip, both to and from. Landon loved the train's movement and sound as well. He either slept or was happily awake for the entirety of our time on the train and never fussed once.

When we arrived in Chicago Monday afternoon, we took a cab to the Ronald McDonald house near Comer Children's Hospital. The Ronald McDonald House is truly an incredible charity organization. They provided us a place to stay, meals, and support from other parents of children with serious health complications and disabilities. They offered a shuttle to the hospital and really facilitated our doctor visit in several ways. It gave real perspective to the impact of dropping a few coins into the bucket after a burger and fries.

Our appointment with Dr. Marcuccilli was at 10:00 on Tuesday morning and he was very generous to volunteer his services and so much time to visit with us. We were at the hospital for about 2 hours and learned an incredible amount, even without any further testing. Due to the failure of some of Landon's other doctors in faxing over his history, Dr. Marcuccilli's knowledge of Goat's condition was incomplete. He spoke with us about the results of all our completed testing and then began evaluating for himself.

The most significant discovery of his evaluation was that Landon has areflexia, or no reflexes. Tapping his knees and elbows with the mallet elicits no response and running a finger down his spine fails to make him draw his limbs in. While we have been frustrated by his lack of a gag reflex, that was the only reflex that the doctor was actually able to elicit, although it was reduced. While previous doctors have found this, none of them included that information in the history the forwarded to Dr. Marcuccilli and it significantly altered our plan of action and our expectations. First, we found that one of the diagnostic tests Landon was supposed to have run could not be completed that day due to his lack of reflexes as the results would be inconclusive. However, while that test would be inconclusive, the combined components of Landon's condition and years of experience allowed him to narrow the list of possible disorders at play from over 200 to slightly more than a dozen.

Our biggest challenge thus far has been the enigmatic nature of Landon's condition. Dr. Marcuccilli was unsurprised by our difficulty. He believes that Landon has a unique presentation of a rare, but known, disease. Although he is unable to determine which condition Landon has at this time, he was able to compile a list of tests to systematically rule out the remaining possible diseases until we have a more definitive answer. The list includes blood tests, spinal taps, eeg's,, urine tests, and possibly a muscle biopsy based on the other results. We are fortunate to be able to run the bulk of these tests at Children's Mercy in Kansas City later this month.

An interesting development of our visit was a discussion of Landon's poor response to phenobarb. While he is still on the drug as part of a seizure control regimen, Phenobarbital on its own does not control Landon's episodes. This qualifies him for a study that will decode his entire genome to look for abnormalities. The test can not but run for three months and results normally take 6 months to a year but genomic sequencing is normally prohibitively expensive and not covered by insurance so this is a great opportunity to have it done for free. The failure of some of these other tests to bear results would mean that this gene sequencing could potentially give us significant insight into Landon's disorder.

From this point forward, Dr. Marcuccilli will be leading Landon's case by ordering tests through our doctors here in Kansas and reading the results himself in Chicago. He is very engaged in Landon's case and interested in his well-being which gives Karen and I comfort moving forward. The prognoses of the various possible disorders affecting Landon range widely but it was nice to gather some context. We left the appointment pleased to have a sense of direction and encouraged by Dr. Marcuccilli's genuine interest.

I will detail the next three days of our trip in a follow-up blog tomorrow or the next day but the volume of information is just too bulky for one post. This concludes the pt.1 of my Chicago trip recap.


  1. I am glad that he is interested in Landon and helping you and Karen find out what disorder he might actually have. I am glad that Landon did well on the train and that you guys found out a lot of information.

  2. Sounds like you can now make a lot of progress in determining Landon's treatment. I'm glad he enjoyed the train! Thank you for the update! Don't forget to post online so all your supporters cab keep up. Take care.