Thursday, October 2, 2008

The next step


Our neurologist has referred us to Dr. John Shoffner in Atlanta for a consultation and muscle biopsy for Nathan. Our Nurse Practitioner is contacting them tomorrow and sending all of Nate's records, and we should have an appt soon.

Dr. Shoffner is one of the leading biochemists in the nation. He is a pioneer in the diagnosis of mitochondrial diseases and is one of the few leading experts in the biochemical aspect of the rare diseases that affect mitochondria. I look forward to meeting him and finding out what he suspects in regards to Nathan's diagnosis.

Our neurologist thinks that Nathan may have Carnitine palmitoyltransferase deficiency (CPT). It is a fatty acid oxidation disorder than falls under the canopy of mitochondrial disorders. I know that this will sound weird, but we are actually hoping that he has one of the fatty acid oxidation disorders. Most of his abnormal labwork and symptoms are pointing to deficiencies in his mitochondria, and fatty acid oxidation disorders are non-progressive and managable. Actual mitochondrial disease is progressive, though the rate of progression varies widely from case to case. Regardless, all of these are life-long disorders and life-altering.

They will make a small incision in Nathan's thigh and take a portion of his muscle for biopsy. The younger the patient, the easier the recovery is for them. Most kids only need a little tylenol afterwards for the pain. The results of the biopsy will more than likely take 14-20 weeks to come back.

The great news is that our life will more than likely slow down dramatically after we receive the results of the biopsy. Instead of all of our specialists searching for answers, they will just be maintaining care. Oh, that is just so great to think about.

Last October was when we were told that our son had 2 markers for a genetic abnormality. It has been a long year of searching for answers. It has been difficult and long...rewarding at many times...but exhausting and highly emotional. I pray that the Lord will bless us with some answers soon.

On a different, but sort of the same note, the doctor who takes care of the immunology patients put Nathan in the high priority list, so we have an appt to see her on October 14. I'm glad we were able to get in to see her so soon. He'll have to go next week to have more blood work done for the immune deficiency workup.

And the wonderful news is that Jay's parents are coming in on Saturday to spend a week with us. Jay's mom told me to schedule as much as I could, so on the docket for next week is PT, Pulmonology appt, labwork, that massage that Jay gave me for my birthday, a visit to the eye doc for me, and a much-needed date with my dear husband. It shall be a great week!

10 comments:

Michelle on October 2, 2008 at 10:39 PM said...

Wow it could be almost another 5 months before you get the results from the muscle biopsy?! Praying that this will be the final test and specialist before you get some answers as to what is going on.

It's interesting that it was last Oct when you received the news of the 2 markers on the u/s - Oct is National Down Syndrome Awareness Month :)

mollie on October 2, 2008 at 10:57 PM said...

That pic of Nate looks like he is saying...whaaaaat???? a date??? what about me?????

dana on October 2, 2008 at 11:50 PM said...

Hey! That sounds like pretty good news to me!

"Manageable". Ahhhhhh...I DEFINITELY like the sound of that.

xoxo

Melodie said...

You are not going to believe this but CPT was on "mystery diagnosis" the other night. it was an adult that was dx (which i think is not the normal) and his prognosis is EXCELLENT!!!! BTW I am dying over toad.

Jill Chandler on October 3, 2008 at 9:29 AM said...

Oh, I pray you guys will be ableto get to the bottom of this soon... 14-20 weeks?!... Managing care, knowing a little better what to expect sounds good.

Enjoy your week with Brother Danny and Sister Adele!
Love, Jill

Amber Schmidt on October 3, 2008 at 10:04 AM said...

Yay for a date night. Those are oh so important. I just have to tell you ... hang onto EACH OTHER for dear life. That is the best thing you can do. I have learned the hard way.

I will be praying for your trip to Atlanta.

Hugs!

Emily on October 3, 2008 at 2:01 PM said...

That muscle biopsy gave me the heebie jeebies. It's reassuring that he will only need some tylenol, but still, yikes. I can't imagine my child having that, on top of everything he already has to endure. Lots of HUGS!!

Christine on October 3, 2008 at 9:55 PM said...

First off, you know you have a standing babysitter here! Without doubt!! But, no pressure :) And second ~ 14-20 WEEKS?!?!? Surely that is a typo! good night!! My prayers are with you guys!! Enjoy your week with Jay's mom, I know that she will be a big help! You have GOT to let me know about that massage...are you still doing the hot rocks massage?!?! And, have a great date at the bookstore and Target with your hubby ;)

amber on October 3, 2008 at 10:36 PM said...

Okay, yes it is 14-20 weeks, though some moms have told me that it only took 12 or 13 weeks to get their kid's back. HA! It is seriously insane how long it takes for the biopsy to come back, but we are talking about looking at the inner most teeny tiny cells...and then the mitochondria that live in those teeny tiny cells. I kinda understand why it takes so long. :)

Christine, I may be calling you soon. :) No clue on when we will be coming up yet, but our NP called today saying that she got Nathan's important papers together to send to Dr. Shoffner, and they totaled about 60 pages all together. Whoa! She also said that she didn't realize how many abnormal labs he had. No kidding, our neurologist didn't realize how many abnormal labs he had until yesterday either...that's what prompted the muscle biopsy, I think.

Anyway, Christine, not sure what we are doing with the girls at this point, but we will be in Atlanta for 2-3 days, but we will be at the hospital for a majority of that time. I'll email you...

Melodie, YES! I saw that Mystery Diagnosis a few weeks back and was mesmerized by it because our neuro has been mentioning CPT all of this time as a possibility. Unfortunately, I don't think he has that, but I hope I am wrong. It definitely would be a lot better if he had that instead of mito. I guess we shall see in 6 months or so. One thing's for sure though...we could totally do an episode of Mystery Diagnosis. :)

Jill Chandler on October 5, 2008 at 10:38 PM said...

Let us know when you'll be heading to ATL. We will be at your service to help in any way you'll allow us to help.
Love, Jill

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