Positive tests, no answers yet

+ 2nd confirmatory test for Pompes but not as "positive" as "they" would like. Differing opinions = debating diagnosis. The only real opinion that matters....... won't return calls or emails. Think I am gonna call this game over.

Prayers Needed

It has been confirmed that my NY trip was a waste of time and money. The reason for the muscle biopsy was to check a specific enzyme level to confirm or deny the positive blood spot test (low alpha-glucosidase level) done in Cleveland. These results would have led to whether or not I have a Pompes Disease.

I found out this week that the enzyme testing was not done. The only way I can look at the results of this mistake is as a Praise to God leading me to a different team that can better help me and my situation.

I have spoken to a team in NC and will be sending tests to them to either confirm or deny the diagnosis this week. Results are reported to take one week.

I boldly ask for each of your prayers, anyone who is reading this, for this test to come back positive and confirm the prior testing. I have stated months ago, that a diagnosis would be SO much better than continuing the past four and a half years as they have been. I would like to know what lies ahead for my future, my children's and husband's future and would like to move on with living my life.

A positive test result would bring much needed closure and a plan for the challenges my family and I face ahead. A negative test does not mean I am fine, as some have said LOL!. A negative test means what all the other Dr's have told me .....That they don't know why this is happening to me, I'm beyond science (that's my personal fave LOL) or that they would all LOVE to help me but don't know how:(

So again, please pray for me, that this week will be the end. There is nothing else left. I am at the mercy of your prayers and God's will. As I go forward, I am trying my best to think positive, but am terrified.

Thanks to you all who have followed me, prayed for me and supported me. I will post "the news" when I hear. Just know, either way, positive or negative, I am sure I will be hesitant to talk for obvious reasons, and will be ready when I'm ready.

Many Blessings!!

NO news is Not GOOD NEWS

Sooo, 8 weeks out. No results. NY Dr. finally called back and has no idea where results are and is "looking into it". At this point, I am getting extremely nervous. Please pray that the tests were done b/c I am not doing the biopsy again, nor will I do any other tests unless deemed necessary by biopsy results. This process has been far too long with no answers and too many emotions.

Still waiting

So many people have questioned me on results. Have none yet, sorry (to top off the wait, my NY Dr. is in the hospital and no one else knows where he sent the muscle enzyme testing to find out answers). Still praying for my miracle, that something will be found on the biopsy - I hold on to this thought with great hope.

Yes, I know I am losing more weight. NO, I am not trying to and my Dr., believe me, is continuously trying to tackle this issue. I continue to try and tackle this issue. Maybe another piece to an incredibly complex puzzle, who knows?

I appreciate all your prayers and concerns. I appreciate all those who deal with me and my roller-coaster of emotions on a daily basis. Thank you!

Know I am doing fine, good days or bad, I am ok, and will continue to be. I have no other choice with 2 babies, a husband and a job. SO, no worries. I will make it through this - results or no results. Miracle or no miracle - Liz will be fine. I always seem to pull through, despite the challenge and expect to do so again, this time, and in the future.

Lots of love to you all, thanks for your continued support! As soon as I hear anything , I will post :)

Waiting

The weeks have grown a little tougher, not feeling totally great, which make the waiting for biopsy results more challenging. Have tried to remain faithful and have patience, but have become incredibly and increasingly irritable at times.

Today I was reminded that it's ok to expect God to make your miracles happen. So I boldly ask / say, without withholding at all, that I expect God to make this muscle biopsy + for something, anything that wraps up these past 4 years, that the search will be over and the diagnosis very clear. That there is no more guessing and only a concrete + pathology result that leads to peace of mind that we have found the exact problem.

As I boldly ask God, I humbly ask others to pray for this personal miracle. Seems so twisted to ask for an illness, I know, however, the illness is there - just so desperately need to know what it is and the future it holds, not just for me, but for my family, friends, doctors and everyone that has been involved.

We are facing other challenges that continue to develop and the plan of action is unclear. As soon as results are known, I will for sure post.

Thanks to you all for your inquires :)

Diet/Exercise Program

I have had a lot of questions on my diet and exercise program so here's the skinny.....or more like my own personal hell :) LOL!

Supposed to be eating 122 grams of Protein daily. For a carbaholic, this is obscene. 70% of this protein needs to come from animal products (so nuts, beans, veggies, soy don't count) having to do with branch chain amino acids to build muscle. Supposed to be low carb and get carbs from fruits and veggies mostly. All protein supplements must be whey and must have more protein than carbs.

In addition to the restriction, I am supposed to be eating like 6 times a day, increasing caloric intake and increasing potassium intake to help with increasing protein. This is super hard with a decreased appetite.

"Sub-maximal" exercise is highly encouraged so I don't hit my glycogen stores. This means I move slow and slower LOL! Keeping my heart rate way lower than I have had in work outs in past.

Taking amino acid supplements - L-alanine, L-carnitine, Ubiquinol, DHA for omega 3's, other supplements and meds too which I personally think this should be included as a meal! LOL

So What Now?

So all in all, what is going on for those who don't know? Very confusing stuff, but last Dr. doesn't think it's Pompes, although, he said he could be wrong and will see with the muscle biopsy. What he does know is that whatever this is, there is a definite problem with glycogen and that although we may not know cause, we will continue to treat the disease process the same.

Dr. also said my problem could be due to a lot of things, other diseases out there that are rare and kinda tough to go into at this time, or a mitochondrial malfunction.

Now waiting on muscle biopsy. If biopsy + we will know for sure what I am dealing with, but won't know results for 2-6 wks. Praying for SOMETHING to show up.

If biopsy results normal, Dr. thinks problem is related to mitochondrial malfunction/mutation initially caused by a possible virus.

Needless to say, my high protein diet is much more strict, my exercise program is cut down in intensity. and I have been placed on more supplements/amino acids daily.

I am supposed to check in, in a couple weeks to let the NYC Dr. know how I am doing and go from there.

Will continue to persevere, have faith and see what God plans next.

It's a God Thing!

With emotions brewing, fear abounding and a burdened heart, I hit my knees, barry my face, and begin to pray. My prayers turn into a conversation with God I was not ready to have. With tears streaming down my face, I listen to what God says and all I can hear is that I must sacrifice myself for others, show my weakness, lose my pride and begin to tell my story. I listen, stand up, wipe the tears and write down my thoughts on paper, throw the paper into my bible and walk away. Once again, my heart is tugged and I am led to go back and read my bible where I tossed the paper. I open to Matthew 11:25-30 "rest for the Weary".

So now I am confident that God has a plan and events occur one after another revealing God's work and proclaiming His name. Later in the week, I posted several things on facebook to later find out a friends husband was going through the same experience and was led to read Philippians 1:19-24.

I then go to NYC to see the final Dr. in all of this mess. Confident that answers will be revealed and the 4 and 1/2 year search will end. Two long days with multiple conversations, assessments and a muscle biopsy lead to again, unanswered questions, uncertain diagnosis, and a sit and wait mentality for biopsy results. A plan for treatment is developed and refined with lifestyle modifications and supplements. I am crushed, once again with no definitive answer and false hope.

Trying to remain faithful, patient and trusting I sit and wait. Fear and uncertainty fill my head until today. God definitely reminded me today that things will be ok. A message was preached about despair and to choose faith over fear. Finally, led in Sunday school to take a closer look into Romans 12:1-2.

As I have stated before, some may say coincidence - I say Divine intervention.

Perpetual Search vs. My Sanlity

As a provider and Christian woman, to me, praying for a diagnosis, no matter what the outcome, was, and is, a horrible thought. Especially when my usual view is to be healthy, live life to your best and move on with diligence and faith . But as a patient, each day I prayed that someone, somewhere, would figure me out and that I wasn't crazy. That the Doctors could actually see what I was feeling and understand my struggle. Each visit to Cleveland led to hope to only fall again to the place of uncertainty, self questioning, and declining health.

The last visit to Cleveland provided insight resulting in a positive test, FINALLY. My alpha glucosidase level appeared low. Now, where one challenge ended, a new one began.

I finally could let my secret out and let others know because, you see, I had told very few people about my issues, being to proud, not wanting pity, help or my issues to be noticed.

My doctors spoke to more doctors and were developing a plan, but still unsure of a diagnosis, I was encouraged to see yet another doctor in NYC for confirmation. This plan brought about fear, what if we haven't found the problem, what if I start back at square one again, what if I have told all these people about a problem I don't have, and worse.....what if I come home again with nothing?

About Me

Four years ago I embarked on a journey that I never thought I would travel. You see, as a Nurse Practitioner, I took care of people, not ever asking to be taken care of myself. Now, I have been humbled to do both, and share my story from both a patient and provider prospective.

My journey begins over four years ago like most 30 - 40 year old women who present to their doctor with fatigue, weakness and just not feeling "right". Of course I was passed off as being a stressed Mommy, wanting to have it all, and was handed antidepressants. As a provider, I thought, hey worth a shot, I had seen numerous amounts of patients just like me, in fact way too many to count.

As time progressed though, new symptoms developed with each "episode" and I became weaker, more fatigued and started developing muscle spasms, the inability to do daily tasks such as laundry, climbing stairs, and at times, brushing my teeth or washing my hair. I couldn't walk upstairs or get out of a chair at times. My hobbies of working out and playing tennis were no longer doable - not by choice but by my body's limitations.

How could this be, I was active, happy, involved with my children, husband and friends - something was wrong!

I sought help from Dr.'s in many specialties, all not knowing what to do, handing me random medications to try and fix the symptoms without finding a cause. The message from all the Doctors was the same..."Something is wrong, I would love to help you, but don't know how I can."

Finally, with the help of a physician and friend, a team was created in my home town to then come together & send me to Cleveland Clinic for evaluation. Cleveland had it's challenges of emotions, hopes, but in the end led to a one test that was of question. This finding leads me to the rest of my story and my blog.