GREAT news!!!

God is sooo good!  When I got home from my G.I. appointment this afternoon, I went to check my email, and there it was..........right at the top of my inbox---an email from the lab in Massachusetts!!!

Can you guess what that means? ;)

It means appealing is finally over after 6 and a 1/2 weeks, and our insurance has agreed to cover the whole cost of the exome sequencing!!!!!  Ahhhhh!  I can't stop smilin'! =)  Praise the Lord---all glory goes to Him!!

This lab has been amazing.  If you ever need genetic testing of your DNA, I highly recommend Courtagen!  They've been so efficient and compassionate, and they never gave up!  I'm truly blessed to get testing through them.

Sooo, here's counting down 6 weeks again, but this time, for real. ;)  Now that this is working out, I don't need a muscle biopsy.  But September will still be a busy month!  I have another 1-hour EMG scheduled, my sleep study, hopefully the spinal tap, and I'll get the sequencing results, too.

Do you want some more good news?  After waiting over 2 months, my wheelchair will be delivered on Thursday the 22nd!  We get to stay at the beach the following week, and I'm so thankful I'll have my chair by then.

I'll be taking a blogging break for a couple weeks but will start it up again the first week of September.  That week I have 4 doctors appointments! :\

Praying the rest of your August is blessed!

Until next time!

P.S. At my neuro appointment this past Tuesday, my neurologist told me she'd love to write a letter of recommendation for me to go to med school. ;)  Don't know what the future holds, but if that dream comes true, that'd be amazingggg!

Thrown a Curve Ball #2

What a week!  To my great surprise and disappointment, I found out on Tuesday that the exome sequencing DNA test hasn't even been started yet... :(  Here I thought the test was almost completed!  Long story short, we found out that this certain laboratory in Massachusetts is out-of-network for our insurance.  So ever since July 1st, the lab (together with my doctors) has been doing all they can to get this DNA test covered, appealing and fighting to show insurance how necessary this test is.  I don't know what's going to happen, but I should hear by next week what they find out.  I know it's in the Lord's hands.  Thankfully, if getting the test through this lab doesn't work out, there are always others.

On Wednesday, I heard back from that mitochondrial specialist in San Diego. :)  After thoroughly reviewing the referral and my records for 5 weeks, the dr. formed a plan.  Before he decides whether to see me, he'd like me to get some extensive tests done first and then review the results:

1. another lumbar puncture (spinal tap) -- I can't even remember what it is he wants to check in the cerebrospinal fluid because it was too complicated..

2. whole exome sequencing -- if the lab in Massachusetts doesn't work out, he recommended one in Maryland.

3. repeat electromyogram and nerve conduction study

4. possible muscle biopsy

******

This coming week, I see neurology and G.I. on Tuesday and Thursday.  And hopefully, I get the echocardiogram results as well.

I came across this poem when I was cleaning through a computer file last week, and I wanted to share it with you.  The words are so rich!

He sat by a fire of sevenfold heat,

As He looked at the precious ore, 

And closer He bent with a searching gaze 

As He heated it more and more. 

He knew He had ore that could stand the test, 

And He wanted the finest gold 

To mold as a crown for the King to wear, 

Set with gems with a price untold. 

So He laid our gold in the burning fire, 

Though we would have asked for delay, 

And He watched the dross that we had not seen, 

And it melted and passed away. 

And the gold grew brighter and yet more bright, 

But our eyes were so dim with tears, 

We saw but the fire⎯not the Master’s hand, 

And questioned with anxious fears. 

Yet our gold shone out with a richer glow, 

As it mirrored a Form above, 

That bent o’er the fire, though unseen by us, 

With a look of unspeakable love. 

Should we think that it pleases His loving heart 

To cause us a moment’s pain? 

Not so! for He saw through the present cross 

The joy of eternal gain. 

So He waited there with a watchful eye, 

With a love that is strong and sure, 

And His gold did not suffer a bit more heat, 

Than was needed to make it pure.

Closed Doors

"Many are the plans in the mind of a man, but it is the purpose of the Lord that will stand."

~Proverbs 19:21~

In my previous post, I mentioned how my geneticist referred me to a different place for further diagnostic work-up for mitochondrial disease, but I kept it sort-of secret in case it didn't work out.  Well, that's just what happened. ;)  I learned that Boston Children's has an extensive metabolism program, and it sounded amazing.  But....I got a phone call yesterday that the doctor (after thoroughly reviewing my records/referral) thinks it's best that I just stick with Cincinnati and receive all my care there as he doesn't think he would have anything new to offer..

I am just so thankful for the Lord's guidance in opening and closing doors!  Even though this door is closed, there are many more doors that can open! :)

All that has happened has been such a great learning experience, and it constantly reminds me to fully rely on God for wisdom.

So here's the plan:

1. The referral/records review process in San Diego takes 4-5 weeks, and thankfully, next week will be 5 weeks!  We will see what this mito specialist says..

2. Even if he is willing to see me, that still probably wouldn't be till next year as he is booked out.  So I'm researching other mito specialists that could possibly see me in the meantime.

3. Washington and Los Angeles is currently off the list.  So I've been checking into other places across the nation.  Looking on the bright side, having a complex medical case means I can travel when I wouldn't otherwise! :)

******

In other news, cardiology on Monday went well.  In the middle of July, I stopped the saline infusions because sadly I didn't notice anything, and my "good" vein in my right arm is developing too much scar tissue from countless IVs and blood draws.  This in turn made it difficult for the nurse to keep placing a new IV every time which aggravated the CRPS pain!  So in a way, I'm glad to have stopped the infusions.  

Dr. A wants me to try a combination of two meds for the dysautonomia, but I won't try them until I see a mito specialist..  

This coming Thursday on Aug. 8th, I have another heart echocardiogram scheduled because she wants me to get a current baseline for this year.

******

This is totally random, but do you need a good laugh?  Read these below. :D

 

 

Have a good rest of the week! :)

Thrown a Curve Ball

San Diego is very possibly a no-go!!  I'm as surprised as you are. ;)  I found out on Wednesday that the mitochondrial specialist that I got referred to is booked through the month of December..  Plus, he only sees 3-4 "adult" patients one day per month.  And I just can't really wait that long.

My G.I. system hasn't been functioning well at all for the past 2 weeks, I'm starting to get right-sided muscle weakness, and as I wrote before, I'm losing movement in my left eye.

I also got my holter monitor results last week---I wore a holter for 48 hours, and in just that short of time, the report states I had over two thousand single premature atrial contractions (PACs) and over fifty PACs in pairs.

Plus, my sleep hasn't been great...I often wake up in the middle of the night with sopping, sweaty legs.  The holter report also said my heart rate dropped to 55 bpm during that particular night.  So my neurologist ordered a sleep study for me.  Unfortunately, the place is booked, so the study isn't until September 4th.

I see my neurologist in 2 1/2 weeks and my cardiologist this coming Monday.

But anyway, back to the story. ;)  So San Diego looks like it's not working out...no worries, though, because my geneticist in Cincinnati referred me to an even better place!!!  But until I know for sure that it's a go, I won't be saying a word about where I may be going! ;)  Please say a prayer that this particular dr. will be willing to see me and sooner rather than later...it's sad that there are so few mito specialists in the country.

Stay tuned! :D

Full of Awe

It's been almost 3 weeks since my saliva tube for the exome sequencing got sent off to the lab!!  Counting down 3 more weeks.. ;)  With this new test, the lab can sequence over 1,100 genes!  Being excited is an understatement.  Knowing that there may be even more potential answers is so encouraging.

Look at this picture below.  That, my friends, is what's in every person's DNA...!  This picture alone speaks of God's wisdom and handiwork! :)  Getting the chance to have my nuclear DNA sequenced is eye-opening.  I truly serve and worship a great God!

And as I was thinking about this, going through all these health trials is really part of God's good purpose!  If I didn't have any of these problems, then I wouldn't have the opportunity to learn all of this!  I thank the Lord for His plan in my life.  So please don't wish my life any different. :)

This is even better in full screen, so feel free to click this picture. :)

The small red box in the first picture is this magnified below:

Isn't this SOOO fascinating?? =)

Also, if none of my health issues had happened, then I wouldn't have met this precious little guy back in April at the Ronald McDonald house in Ohio.  I never grow tired of this picture.  Isn't he the cutest 2 year old ever??

He recently had a bone marrow transplant and is soo brave.

Hard Week

This has been another difficult week.  On Wednesday, my 89 year old grandpa passed away suddenly, faster than all of us were expecting.  He was in the end stages of kidney failure but given 4-6 months to live.  But this past Wednesday, he had a catastrophic event---the social worker thinks he must have had a heart attack or something like that.  I already miss him so much. :'(  This is the second family death in not even 2 months.

One of the things I'll always remember about my grandpa is how he always made me laugh:

• When I was little, he used to call me "shorty."  That was his nickname for me.  I didn't like being called that then, but now...I chuckle!
• Ever since I started getting bad headaches last year, he always wanted to know how I'm doing and if I still have "an itchy head."  Haha! ;)  For some reason, he got mixed up between those two things!
• A few weeks ago, I wanted to take a picture with him, so I told him to say, "Cheese!!"  He said, "Cheese!!  Bleu cheese!!" :D

Holding me on his 70th birthday. :)

One of my favorite pictures with him taken just one month ago. <3