The word for today is: Mitochondrial disease

This morning my pediatrician called me with the full results from the PT evaluation last Monday.  It sounds as though once she received the report they actually had a consultation to discuss it before contacting me.  I didn't learn anything new, basically the PT had discussed it all with me during the evaluation which was very reassuring.  My pediatrician agreed that we should move forward as soon as possible with a neurological consult and a genetics consult.   She also wrote the order for the x-ray of the neck for me to pick up.  She gave me the names of the doctors for each category whom she believed were the best of the best.  

So, I made more phone calls today.  I attempted to make an appointment with the neurologists, they are going to get back to me in the next 24 hours due to having to send an email to administration to have me permitted to see that doctor.  Okay, they have until tomorrow afternoon and then I will give them another courtesy call.  As this doctor is very highly sought after and they is quite a waiting lists.  She is with the neurological group with Emory, so I do feel confident that once we get in and see the doctor that we will be able to move forward with any challenges we may have to face in this particular area.   Or at least have peace of mind that there are no further challenges in this area.


The second doctor is where I learned the word of the day:  Mitochondrial disease.  You see, I was not sent to a genetics counselor per se but a genetics specialists that focuses on mitochondrial disease.  Honestly, it sounds horrible, but is really quite fascinating.  I called the office to make an appointment and was greeted by an extremely friendly person who asked if my child had mitochondrial.  I was completely taken aback and just answered "I don't know".  He then asked why I was calling and I mentioned the referral and my doctor's name.  Well, apparently I answered correctly because then he began to explain in more detail what the doctor does and what she specializes in.  It is much different than going to any doctor and as the conversation continued I got quite excited about the possibilities of what this doctor could provide us that no one else could.  She doesn't take on any patient, but only complex issued patients that see different specialists with different problems.  She will not make an issue complex though, it either is or it isn't.  My pediatrician recommended her so much that she said she would take her own children to her and that she had been in the business for over 15 years.  Again, I do not know if Thomas has mitochondrial disease or even if I really understand what that means.  It is just that this particular doctor specializes in this area and it appears that some of the issue Thomas is experiencing may be related too or similar.  Either way, she will help us get to the bottom of it.


Basically, she will have all of his medical records and test results from anything he has had since birth to review before we ever meet.  She will already form an idea of what might be going on and a care plan of action before we have our first consultation.  During our consultation through our conversation she will either confirm or modify her plan.  She looks at the entire body as a whole and through her experience and studies can determine if one problem is related to another and if there are more problems that we should be aware of.  He explained it as you got to a neurologists and their specialty is the brain, so they are only concerned with issues that are near, in or affect the brain.  If there is something in the brain that is affecting the GI tract for example it might not be something that is considered when in reality it could be related.  Especially in cases where there are missing genes or a genetic mutation, which is more of the case with Thomas since all of his issues are considered congenital at this point. (meaning during development phase or present since birth).  So, there is money paid up front, quite a substantial amount in my opinion, but first and foremost its worth it if we can learn more about what we have and we our challenges really are.  The interesting thing that was discussed though is that she is so specialized that they provide a form that goes to the insurance company that request in network coverage which is usually granted due to the level of specialty.  We even discussed my insurance company specifically and he stated there past history has been that its covered as in network.  Whew! Let's hope that works out as well.  After the 3-Day walk this weekend, I will begin to gather up all of his medical records to get submitted to her for our appointment on November 29th.  

Today, we did go pick up the orders for the neck x-ray and headed to Children's in Mt. Zion for the procedure.  I knew he wouldn't be happy but it is painless and quick generally.  The waiting was the longest part but bearable even with the other two boys in tow.  In fact, it was quite nice to have them with me and usually its just me and Thomas on these excursions.  It was pleasant to have them near us and around us, reading, laughing, playing, etc.  The technician took one x-ray from above and one from the side and then reviewed.  Then, she came back and asked me what was going on with his neck that these were requested.  I explained the best I could and she said she wanted to get another one.  It could be a mother's intuition or me just with my guard up, but she led me to believe that there was something she saw.  Of course, she can't say anything because she is not the radiologist.  Of course, Tyler and I did study the x-ray a bit and I might have saw something myself but again I am no expert either.  So, we left for dinner and church and when I got home my pediatrician office had already called with the results just before 6pm.  UGH!! It was one of the peds I normally don't see and she didn't call me cell phone.  My peds always call my cell phone.  Again, I say UGH!!  And so I wait.  I will call first thing in the morning.  I do know it won't change the results if I know tonight or tomorrow. In fact, I got more anxious just at the fact that I could know right now and I don't.  I want the peace of mind that there is nothing there or be able to pray and build my strength for the next challenge ahead.  In reality, I will pray for that anyway because even if I knew the results right now I don't know what that would mean for him at this point.

So, that was today.  On a high note, I did learn that if I apply for the Katie Beckett/TEFRA coverage for Thomas and get approved.  They will pay all of his medical bills and even go retroactive to his birth.  Wow!!  I have been warned the process is long, painful, and stressful.  But the prospective of this even being remotely within in our reach is definitely motivation to move forward!  After this weekend, I will call and formally make my intent to apply and while collecting medical records, I will just make copies to submit with my application.  This would be such a blessing for our family and for the future of Thomas' medical needs and treatment.  Please keep this in your prayers, it truly would be wonderful to have the financial burden completely lifted and still be able to provide the best possible care for Thomas.

Thank you again for all of the prayers, love and support.  I am still amazed at how many take the time to read my crazy, rambling posts about things that may or may not mean a thing to you in your world.  Thank you, you are a special person yourself.