Mitochondrial Disease

Ok... We got some of the results from Atlanta back this week!

It's very complex. I'm in the midst of doing a million things & can't quite explain it all now.

Logen has a Mitochondrial Disease. He also has type 2 muscle fiber atrophy. He will start a mitochondrial "cocktail" as soon as we can find a pharamacy to compound it. There are some financial concerns, the docs say we will have to fight insurance (the doc's office is very willing to write them a letter and do what they can though) and medicaid won't cover this. As far as a specific Mito Disease, we are still waiting on all of those to come in. It could be many months. And, we may never know from what they said. We just know his mitochondria do not function normally. He's "highly probable" to have complex 1 and complex 3- and that's about as much info as we have. It could take nearly 2 years for the meds to kick in b/c they have to get into the muscle. And, there is a chance they won't do anything. As far as prognosis, we don't have one right now.

We are waiting for a big list of precautions from the doc, but were given a few to start with. Things like he can't have a certain type of anesthesia, he can't fast for long periods, no over heating, can't be around people with the flu (b/c it could take him down harder and longer), he may need to be hospitalized for even minor infections b/c of hydration and monitoring.

Please continue to pray for us. Thanks.

Logen Man Update

Logen is doing pretty good. He's not limping very much anymore. He will beable to swim (and resume pool therapy- his favorite form of therapy!) by the end of this week. He pulled his bandage off last week and his surgical site was still a little bloody and swollen so I just put a bandaide back on it. (There's a facebook picture on my mobile uploads).

We have seen an increase in seizures in the last month.

It's re-eval time again (OT). Speech was in May. PT is soon as well. On our IEP no progress was made during the school year. He has lost skills in OT as well as Speech in our private therapy evals. Just asking for prayers here. We are also strongly considering a change in schools. This was discussed in the last IEP meeting due to several injuries (quite a few unexplained ones) Logen came home with. All of this is another post in itself.

We won't have results from the skin or muscle biops for about 3 months. They will send the CSF results and the RMR results at the same time.

Dr. Shoffner sent me the clinic notes from the appointment and I will post the "important" ones soon.

I'm playing catch up on homework now (well, avoiding it actually).

Thank you all for the continued prayers.

Confirmed!

The Surgeon has confirmed our spot next week! So, WE ARE ON for Atlanta and seeing Dr Shoffner! I am thrilled ya'll! I can't wait for results. I know, 3 months away... but- maybe some answers, FINALLY!

I was on the phone all day yesterday trying to contact people regarding flights, etc. This is really starting to stress me out :-O However, I am sooooo ready to have this done!

I have started Logen his own blog... there is nothing on it yet. I hope to copy over any post regarding him from my blog to his by tomorrow. I will also update along our trip. The main purpose of his blog is for the companies that have asked for more information before they will make donations. I'm not sure how I will keep up with all of these blogs ;)

At this point, I am working with Angel Flights trying to get Logen and I out there free. They won't fly more than I passenger with the patient. And, since it's a holiday weekend next week- it's looking doubtful. But, worth a try. If not, I'm not sure what we will do, as the flight prices keep going up.

Say prayers for our sanity! I called lotsa family members last night for a very detailed family history! Holy Smokes! I didn't know how many heart conditions we had. And "child birth" problems. I got my issues from both sides of my family. I feel blessed to have been able to have 2 kids after hearing it.

ATLANTA HERE WE COME! :)

Atlanta Appt (Dr Shoffner) Scheduled!

Oh boy! We've been so stinkin' busy. I have this week and next week left of 3 classes a day, then 5 weeks of just 2 classes. That will feel like a breeze after this craziness! :p

Sooo... His appt with Dr Shoffner (the Neurogenetics specialist) has been scheduled for July 1 and 2. The only hold up at this point is they can't confirm until about Friday. Which will leave me about 3 days to book flights, rental car, and a hotel AND get to Atlanta! Kinda, just a little bit, Stressful!

Where the funding for said things will come from it beyond me. We've been slowly gathering stuff, but I haven't had a break in school long enough to pull a fundraiser together.

The Doc has reviewed just half of his records and defininately wants to see Logen. Here is what we will be looking at (the list could change):
Diagnostic Testing for Mitochondrial Disease
* Blood for mtDNA (PCR and Southern)
* Blood and CSF for Lactate and Pyruvate, or Brain MR Spectroscopy (we are doing the spinal tap at this point)
* Urine Organic Acids (by GC/MS)
* Plasma and Urine Amino Acids Blood and Urine Carnitine
* Brain MRI (He's had 2. 1 was abnormal, 1 was normal. You're guess is as good as ours on this)
* Muscle Biopsy (they will be removing a 1 by 1 piece from the top of his leg) and Skin Biopsy, Neuropathology and Electron Microscopy, Mitochondrial Electron Transport Studies, Fresh (coupled) mitochondrial Polarography
* Resting Metabolic Rate Study

{We've been told by the Neuro that all of my cardiovascular issues can be something related to Logen. It can just now be showing up as "adult onset" in me. If Logen does test positive, I belive I would be tested as well as Parker and possibly Adam- the reason Adam may not be has to do with the way the mitochondria are passed on. I'm not sure what would be a good thing here. We just want answers for everything thats happening, medically, that no doctor has been able to explain!}

Another hang up is travel on the 4th. I'm a little afraid to fly on that holiday. Call me crazy! ;-) I'm excited about this and want to get the testing done ASAP bc the results will take around 3 months to come back. Rrrrr! I hope it all works out and we can get it done next week. I am going to contact Angel Flights and see what they can do as well. Tickets from here to there are around 900 bucks a person! Driving time is about 13 hours if we just drove without stops or traffic. I hear other parents laughing out there! Like that would ever happen, 'eh?!

Idiot Geneticist

Here's the re-cap from our April 10 appt.

This guy is an idiot. I will be writing to whoever I need to about this ding bat.
We walked in pretending we knew nothing more than at our last appt with "Idiot" (my nickname for him) in January. We asked him what his next step would be in finding a Dx for Logen. He said a blood test for Mitochondrial "stuff". We said ok, explain. He blah, blah, blahed. We half listened- already hearing the cons and pros of the biopsy and blood testing from Dr B in St Louis. And, as you all know by now- we trust StL with everything b/c they haven't screwed up.

So, interesting part happens. He says this is the LAST step for Logen. IF this blood work comes back normal, then we are done. There is no more testing. This is it, end of the road.

I sat up and said, "Well Dr Idiot- Have you heard of Dr Shoffner?"
Dr Idiot: Hmmm. Yes. (puzzled look. crap! How do you know about him?!)
Me: Would you consider sending Logen to him for a muscle biopsy?
Dr Idiot: Well, I don't really think that would be necessary if the blood work is normal
Me: From what I have been told and researched myself, the blood tests can be wrong. I think it would be best to get accurate results so we can begin treatment, if possible.
Dr Idiot: (Another oh crap look! This mom may actually know what she's talking about. And, he just sits there like a big dufus.)

I'm not kidding- he wraps it up by TELLING me we will draw the labs and he will see us soon. I'm like, uh- WHAT?! I went ahead with the labs, b/c IF they show something- then, ok- we may have an answer sooner (7-8 weeks). But, I really DOUBT we drive 4 hours to see this guy again. Horrible. And, how can you tell a family that this is the end of the road for them? It's obviously NOT. Had we not had the knowledge we do and not been to StL, then we wouldn't have known about Shoffner. There are other familes out there trusting this man. And, I feel he's incompetant. He was arrogant. He walked in saying he was the best there is. And, he is clearly NOT. He told us this the last time we saw him as well. I should have taken Logen and ran quickly then, but I gave him a 2nd chance.

So, there's part one of drama from those appts. Crap! Total Crap. I'm going to bed now. I'll be back soon!

PS: the short 1-2 line posts are via text. Thats why they are short. :)

Neuro Center

Deep Breath. Ok. Go!

Logen saw Dr Brunstrom yesterday. Dr B and her staff spent a good 4 hours with us. They are remarkable.

1) The "tumor" on Logen's leg was not all removed. She suggests a plastic surgeon remove he rest of the tumor and fix the scar on his leg, he can make it nearly invisable. We knew shortly after the bandage removed that it still did not look right. Once again, there goes my faith in our local Children's hosp. A few pages in Logen's medical chart were removed before they were sent to us. Also fishy.

2) We are going to order a Mckie hand splint with a supinator strap for Logen's left hand. This will help keep his thumb out. Insurance won't pay for it and neither will medicaid- so it's an out of pocket expense. He won't wear it all the time. We will put it on him when he's working (coloring, puzzles, shape sorting, etc)

3) Repeat Swallow Study, done in specific ways. Once it gets closer to time for the study- I will post on this.

4) Growth: he's falling off the charts. No growth has been made since she began seeing him in 2007. We will check his thyroid functions. However, this can also be resulting from a mitochondrial disorder.

5) And for the big stuff.

* She's referring us to John M Shoffner in Atlanta, GA for a fresh muscle biopsy. While there he will undergo more extensive testing as well- a spinal tap, amino acids levels, metabolic functions, genetic testing, etc. The lost of testing they do is long. Check out their website. Wow.

* Dr S will not see us until I have every medical record on Logen from birth to now. Our hosp is not cooperating with me so far. Our ped's office has also called and asked for the EEG on disk. We keep getting told it's to large to copy. They won't release the report either. And, apparently nobody knows anything about the missing pages in his medical history.

* We are looking at possible Mitchondral disorders/diseases now.
* There are many precautions they gave us.
* avoid prolonged fasting. She said not to let Logen go any longer than 8-10 hours w/o food. This means waking him up if he's sleeping.
* avoid extreme exhaustion
* avoid overheating
* all of the above can lead to brain damage if it is mitochondrial

* We are limited in medications for seizure control b/c of the way the body processes the meds. Mito disorder + certain meds = bad!

* Once we do the testing, results for the biopsy take about 3 months to come back. We can have the spinal tap results in 2-3 weeks.

* If we do not get Logen in to see Dr S in the next 3 months, we need to do the spinal tap before hand. We need to eval his CSF neurotransmitters and look for a cerebral folate deficiency. If he has a deficiency a medication can be given to fix! Dr B has seen major improvements with the med! IF we do the testing here, it will take about a month to get back.


ASKING FOR HELP!

* Just to do the testing with Dr S is $20,000.00+. Medicaid will not cover this b/c it's out of state. I am checking into our insurance. The minimum we would pay is 30% of all costs. We also need to get there (16-18 hours away).

* I need ideas on fund raisers. Anything you can come up with be so helpful. Any way you can think of to help us raise money for the testing, we appreciate!

* We also need prayer warriors!!!!! And lots of them! :)