This is a chronicle our everyday life as we live, laugh and love raising our teenager, our toddler and our special needs baby. Normal isn't always what it seems...

Tuesday, June 4, 2013

The latest medical update

Be forewarned, this is LONG!
     On Saturday May 17th we packed our hopes, fears, anticipation, a ton of anxiety and let us not forget all the patience and strength we could muster into three suitcases and more medical equipment than should be legal and boarded a plane to go see one of the top Pediatric Neurologist in the country. This doctor is very highly credentialed and respected in the medical community. He is very involved in research and hence has a very deep understanding of mitochondrial disease. We felt from the very moment that we made the decision to go that we were doing the right thing for our boy. Things "fell into place" beautifully from the very beginning and continued that way through the very end of the trip. It really was amazing. I'd like to give just a few examples of how the road for this journey was paved ever so smoothly for us before I explain the appointment.
  •      First, when I called about an appointment, I was told that there was a  17 month long waiting list. That seemed like forever but I was willing to take it until almost immediately the lady on the other end of the line proceeded to explain that there was an ongoing research study that Lydon qualified for and that we could be seen in a couple of months if we were willing to participate. I called the end of February and we were seen in May.
  •      Second, the amount that we would owe all depended upon getting our insurance approved. That was approved within just a few days with no problem and we didnt owe anything more than our regular co-pay.
  •      The next big thing was that I was referred to an agency that assists families with special needs kids with travel arrangements for medical purposes. Most of these agencies require several months in advance notice and lots of paperwork but when I contacted this particular agency, they required no paperwork and paid for the roundtrip ticket for Jonathan, Lydon, and myself no questions asked! 
  •      When we arrived at the airport in Houston, we walked right up to the ticket counter and checked in. No line, no problem.  We walked over to TSA, again no line. Several TSA agents stopped what they were doing to help us get our bags through inspection and xray.  When we turned around and looked up,  there was a significant line waiting behind us but everyone was very kind and patient.
  •      Our flight was great aside from Lydon having a pretty hard time maintaining his oxygen saturations mid-flight.   We had his portable oxygen concentrator cranked up as high as we could and he was still barely hanging at 91-92%. The good news is we weren't at the high elevation for very long and as soon as we started descending, he got better. 
  •      Once we landed, we waited for the plane to empty out because we had so much stuff to load up so of course, the Co-Pilots stopped and let Lydon go into the cockpit and push all the buttons and alarms.  This was a highlight for sure!
  •      We walked to to baggage claim, grabbed our bags (Trust me when I say it was quite a sight to see the two of us pushing, pulling, carrying all of our bags and Lydon with his stroller, pulse ox and oxygen concentrator attached!) and got a rental car all in a matter of about 15 minutes!
  •      When we arrived at the hotel with this menagerie of equipment and baggage, the concentrator got twisted and wouldn't roll (imagine that?!) so I stopped to flip it back on to its wheels and when I looked up, there was the biggest brightest shooting star I've ever seen! It flew all the way across the sky and had a huge electric green tail following behind it.  This may not seem like a very big deal to the rest of you but it just seemed like to us that everywhere we turned we were being given little signs to reassure us that we were indeed in the right place and making the right decision for Lydon.  When we checked into the hotel, the manager there had reserved one of the king suites for us for no extra charge. It was so nice to have the extra space and seperate bed for Lydon with all of his equipment. Again, just another little positive sign!
     The next two days were pretty uneventful.  We let Lydon sleep a lot which is exactly what he did.  We did try to make the most of it and take him out for as long as he felt good.  We went to the zoo for a couple of hours on Sunday and ate dinner ( we ate, Lydon watched) at a Hibachi grill.  He slept even more on Monday so all we did was go to a Chuck E Cheese for a little bit in the middle of the day before going back to the room but that was of course the highlight of the day for him.
     On Tuesday morning, we first went to the lab for a blood draw.  Thankfully, Lydon was pretty well hydrated and they had no problems getting his blood on the first stick.  Those of you that really know us, know that this is a rarity for us! A pleasant surprise indeed.  After a little break, we went over to the clinic for our appointment. We discussed everything that has been going on with Lydon.  His fatigue, poor endurance, excercise intolerance, his nausea and vomiting, his shortness of breath at times, and his susceptibility to illness. Dr. F explained that all of this was the effects of his mitochondrial disease.  We talked about an exact name or diagnosis and for now, our boy is still a mystery.  Dr. F feels like Lydon most likely has a mitochondrial disease associated with Complex IV. His complex IV was the most deficient on his ETC which was done along with his muscle biopsy when he was 18months old. He also has a diseased gene that showed up on his whole exome testing that is associated with Complex IV.  Lydon has six different disease causing genes for mitochondrial disease but they are all recessive in nature. We know by process of elemination that there are a couple of them that most likely are not causing any of his issues but trying to figure out which one of the other four are causing the issues is very complicated. Additionally it could be more than one causing the issues or it could be a domino effect from having so many that all of them together is whats causing the issues.  Some things like Lydons tummy issues have remained pretty constant almost from birth but some things seem to be more obvious now like his excercise intolerance, the inflammation in his lungs and his poor endurance. Dr.F's opinion was that the specific name of Lydons disease will remain a mystery for now.  Hopefully someday, we will be able to figure out more how the pieces fit together but our goal for now has to be keeping him as strong and healthy as we can.  We talked about his oxygen and how that supplementing him with the oxygen when he is active or sleeping prevents his body from having to work harder to maintain his sats and in turn takes some of the stress off of him. We are adding in some additional supplements that aid in the energy making process. We will be starting B12 injections each week. The biggest change will be starting IVIG monthly infusions.  Lydons immune system works but the cells that are responsible for triggering his immune system to "kick in" and fight infection are pretty low. When Lydon gets a cold it seems like he has it for weeks. Dr. F's opinion is that there is no way that we can send him to school next year with his Immunology panel looking like it does now.  Furthermore, he is constantly using energy to maintain his levels where they are.  If we boost those levels up, then his body will not have to work so hard to constantly try to replenish or raise them so that in turn will be less taxing.  These infusions will not be fun or exciting for any of us and it is quite upsetting to think about starting them but our goal as Lydons parents is to give him the fullest life possible. That means hopefully being able to go to school and make friends and enjoy the day without becoming deathly ill or passing out from exhaustion.  We feel like this is our best bet...the big guns! We have exactly one year to start these supplements and infusions and see what kind of results we can get from them.  Our hope is that these therapies will indeed boost him up enough that he can at least make it part of the day at school on a regular basis.  Currently, we can only make it through maybe a 30 minute segment of a Sunday School class or Speech therapy session before he gets tired and even then sometimes its very hard to focus. This trip made it very very obvious to Jonathan and I just how much Lydon relys on his routine.  Just the change in the routine itself really took a toll on him.  He still has not recovered quite honestly.  He is still very tired and irritable and has not regained much of his appetite. Thank God for his formula aka "Orange milk" because he just cant do much more than that right now.  After the appointment, we met with the research team and that concluded our extremely long day.  We got in the car and headed out to grab some dinner before heading back to the hotel and this was the all time lowest point of the trip...Lydon, like only Lydon can do,  covered our rental car with orange milk vomit! Jonathan pulled off the freeway as quickly as he could and we started cleaning.  We did our best to get it cleaned up but I still felt awful the next morning when we turned it back in.  :(
     All in all, we feel like the appointment went as well as could be expected. We really were not surprised at the confirmation of Lys diagnosis. We have been told by numerous physicians past and present that this is what seems to "fit" Lydon the best.  We were very pleased with willingness of Dr. F to work with our current Aerodigestive team here in Houston to coordinate care going forward.  The only real drawback in all of this is simply knowing that despite all that we are going to do that we arent going to "cure" Lydon. We pray and believe that these treatments will help him but he will most likely always struggle with energy levels, GI issues, and oxygenation. THAT is the hardest part!  We are so thankful to finally have some answers and a little better understanding of Lydons issues. We are happy to finally have a team that seems to understand him and wants to work together to all be on the same page as far as a plan of care and treatments.  We just wish sometimes that this wasnt our reality because regardless of how great of a support system we have, no matter how much we talk about it or try to explain it, NO ONE, not even our own Mothers understand what it is like to walk this journey with such a medically complex child. Somedays, it is a burden that almost seems too heavy to bear; but most days, it is a blessing and a joy to see such a sweet, innocent little boy teach us  how to fight with such tenacity and smile through such adversity! As long as he's smiling, we will too! Almost daily in our own special moment he tells each of us "Youre the best Mom/Dad EVER!" Priceless, I tell ya...just priceless!!
 I'll try to post some of the pics we snapped later.
 ~Jana~
   

1 comment:

  1. Will be in my prayers!

    "Never Give Up" ♥

    The Eatons

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