5 Things I'm Thankful For

We set aside one day a year to reflect on all the blessings that have been bestowed on us, the things we are thankful for, and to subject a family member or friend's home to mass chaos (hosting can be a joy and a major stressor). I don't often like to participate in all the "thankful" postings on social media (they sometimes seem a tad repetitive), but I do have a few things on my list...

A very small fraction of our family.

1. I'm thankful for my family and friends (an obvious choice). They have stood beside me through all my emotional breakdowns, irrational logic, and bi-monthly (*cough-cough*...bi-weekly) pity parties (no one likes being invited to those). They have celebrated all those little inchstones with the same exuberant joy one would express at winning the lottery (maybe not that much, but it's close).  They have helped me over so many bumps, hurdles, and pitfalls to numerous to list. Most importantly, they haven't made me feel like I'm not doing enough for Rae, they don't think I'm crazy (maybe just a little) when I suspect something else may be wrong, they've willingly been my shields when strangers prod, they remind me that I also need "me time," and they love, Love, LOVE our daughter for who she is and not who she isn't.

Rae and Karen, her Occupational Therapist,
during her session this week.

2. I'm thankful for all the doctors, nurses, lab techs, therapist, case workers, insurance reps (especially Ms. Timmons at BCBS...she called me almost every day to keep me posted about the status of a particular concern), and everyone in between who have helped us maneuver through this Hypotonic maze, offered us hope & encouragement,  and (on numerous occasions) graciously taken the extra 10 minutes (okay...20 minutes...running over into someone else's appointment...sorry) patiently going over information they've already explained two or three times before and listening to me go on and on about our long list of concerns. They never once made me feel like I was wasting their time!

3. I'm thankful for my health (another obvious choice). I'm not in the best shape physically, but I am healthy enough to care for Rae (for now...knock on wood). I had a pretty big health scare this summer and ended up having my thyroid removed it was two and a half times average size, was starting to choke me, and stretched my vocal chords to the point they were about to break (my vocal chords are still not fully healed). Thankfully, it was not cancerous. While at times I feel the strain/pain (physically), I'm still able to get up and down from the floor after playtime or therapy, I'm able to lift her in and out of her crib or the tub, and I can carry her (this is becoming more difficult and my back is starting to file complaints). Under normal circumstances, I'd probably blow off my own health issues (and I still do from time to time), but I have to take it more seriously now. Rae needs me and I need to be here for her.

Rae with Anna, her physical therapist,
during this weeks session.

4. I'm thankful for my online support group (Hypotonia Parents Connection on Facebook). You ladies (and men) are awesome! You just "get it." You don't judge anyone when they get angry and vert or share worries and fears. You offer such wonderful assistance when researching testing/therapy/toy options. You laugh, rejoice, and cry with each member. It's bittersweet that the number of members keeps rising. I'm thankful for each of you...you help me stay sane!

5. I'm thankful for the inchstones. Those tiny developmental drops of rain that sustain us through the periods of draught. Two weeks ago, I was in despair. We hadn't seen much progress for weeks and I was at a loss. Nothing seemed to work and everything seemed to be off the rails again. It's not a good place to visit, let alone feel like you've been stranded there. Fast forward to this week and it was like a fog had been lifted! We have some big (positive) changes and my cup was once again overflowing with joy.

I could continue to list all the things I'm thankful for (my growing faith in God, the roof over our heads and food in our pantry, etc...), but that would be a never ending list. This is my short list. The ones I remind myself of almost every day.

Four Month Wrap Up

During the last four months it has been one emotional upheaval after another. I feel like I am constantly reminding myself that everyone has something going on in their lives that stresses them out, makes them an emotional mess, or creates havoc. Then I tell myself that even though there is someone out there that may have it worse that does not diminish what I am going through. That is not an easy pill to swallow. I so desperately want to be positive about the wonderful aspects of our life that I try to find ways to make our struggles and heartache seem trivial.

I feel like I am always making excuses when I forget someone's birthday/anniversary, when I don't return a phone call, when a project goes unfinished or takes longer to complete, when I forget to schedule a coffee break with a friend, or when I just seem to drop off the radar, but... Here's some of what has happened in the last four months:

One of Rae's last pics with Papa.

• In mid January, my Grandfather went into the hospital with a brain bleed. They operated, he never woke up, I was able to say goodbye, but I knew in my heart he had already left us. He passed away the day before my Brother's birthday. I no longer had a Grandfather. He was always right, strong, generous, stubborn and a teddy bear, but not everyone saw that side of him. We were in Indiana for almost three weeks and arrived home just in time for...

• Rae's first appointment with Genetics (read the post here) in the beginning of February. I met Dr. M and after an extensive examination with a detailed Q&A session more tests were ordered and we waited...we wait alot. I left the appointment feeling apprehensive and guilty (what if I did this to my daughter?). I also left with a bad taste in my mouth and concerns about the curt demeanor of our newest doctor. But, I had other things to occupy my thoughts with like...

• Her follow-up with Dr. S in Orthopedics at the end of February. When we learned that Rae's scoliosis was getting worse it went from 20 degrees to 28 degrees (read the post here). The prescribed plan of action..."wait and see."

• Two weeks later (on a Thursday), I found myself going to see Dr. A (our pediatrician) about the tremors (Part 1) Rae was having at the end of her naps. Prior to the appointment, I managed to catch the tremors on video so he could see exactly what we were talking about and then found myself trapped in a whirlwind of testing (Part 2) and another appointment with Dr. H's ARNP, Ms. C, in Neurology (Part 3) the very next day to be told that Rae was epileptic. The first medication (Keppra) made her temperament unbearable (she became such an angry baby I about lost my mind) and she was still having the seizures. Dr. H moved her to Trileptal and we are still trying to determine the correct dosage (we're up to 4ml twice a day) hoping to halt the seizure activity (which we are still seeing, but less often and not as bad as before). Which reminds me that I need to place a call to Neurology today...

Rae and Gruncle

• In between all of this, my Great Uncle (Gruncle) was in and out of the hospital (cancer and infections) and we were all wondering what was going to to happen and when we should make a trip to Atlanta to see him. That question was answered when my Mom called and said my Dad was planning on leaving the Friday before Easter and returning the next day. There was no question about whether or not I was going. I packed our bags (mine and Rae's) and we went on a quick road trip (6 hours one way) to say goodbye. Being at my Gruncle's bedside was a very different experience for me because, unlike my Grandfather, my Gruncle was awake (he came in and out). He opened his blue eyes and looked into ours with a deep sadness and pain. It broke my heart and I wept for days. I wanted to erase his pain, make him better, do everything I could to help my family through this...I wasn't ready to loose him and neither were they. He passed the day after Easter. We just barely made it in time to say farewell. He would have been 72 this past Wednesday.

Trying on a sample pair of frames.

• The same week our Gruncle passed we had a follow-up with Ophthalmology where Dr. D told me we needed to consider getting glasses for Rae. While this may not seem like a big deal to some I felt like I just got punched in the throat. Yes, I cried a little. Glasses would make her differences obvious. It would make Rae stand out and up until this point her delays were just suspicions people might have, but the glasses would scream out to people that she was different. I know people celebrate their child's difference, but I wasn't ready to do that just yet. I'm getting there. We ordered them and hope to work at getting her to keep them on (and not eat them) sometime next week. They are lavender Miraflex frames (w/o insurance would have cost $350) and I hope it pays off in the long run. Her being able to see properly could help her progress in her development.

• At the end of April, we had our follow-up with Dr. M in Genetics. For three days leading up to the appointment and the day of the appointment I had a nagging migraine that would not quit. My nervousness could no longer be swept under my mental rug and it was manifesting itself in the form of a 24 hour headache that nothing could kill. Much to my surprise things went smoothly. Every test came back normal and we were told Rae has Congenital Myopathy. Her muscles just don't work properly. We can do more testing to try and determine the specific type, but it may or may not be covered my our insurance. After the appointment my headache was gone and hasn't returned since.

• Next hurdle...Rae got sick. Something viral, but we initially believed it to be bacterial and she was placed on amoxicillin (a little scary since it was her first time and we have a family history of penicillin allergies) and we had two weeks to get it cleared up before her physical (May 3rd) for her MRI on May 9th. Yesterday, Rae received a clean bill of health at the physical and now we have to keep her in a bubble until next Wednesday. But this wasn't the only news we received yesterday...

• I made an impromptu appointment with Mr. L at my primary care office (same location as Rae's so it was convenient...I was already there) to check a problem with my throat. I was worried it could be an infection and I didn't want to risk passing it to Rae (I was actually more worried it would be something more serious and didn't want to know). I noticed my throat was a little sore this past Monday and thought it was just sinus issues from pollen and whatnot. By Monday evening I could feel a lump...no biggie it's just swollen. On Tuesday it was visible...well that can't be good. Wednesday showed no change and I was trying to just blow it off (denial). I don't have time to be sick and we don't have the money for me to run to the doctor(s)...especially if is serious. My Mom threatened to make the appointment for me (gotta love Mom's) so I checked if there were any openings on Thursday...lucky me they had an opening at 11. I only had to wait around for 40 minutes. I waited. Turns out I have some kind of goiter on my thyroid. If it is soft, then it is fluid and they can drain it easily enough (it involves a needle...ick!). If it is hard...well...(gulp)...it could/is cancerous. WTH?!?!?! What part of I DON'T have TIME for this #*@% don't YOU get?!?! Yeah, God I'm talking to You! We are in the first week of May and I feel like my family has already been on one giant, freaking, crazy, emotional, mind screw and You wanna toss this into the mix? Sure, I know He didn't do this, but I feel I have the right to be a little peeved...let's be honest we all yell at Him (or whoever you believe in) at some point. So, I had more blood work done and went for an ultrasound this morning, but we have to wait until Monday for results...

So, we now find ourselves at the beginning of the fifth month of 2012 and I already feel like my emotional savings account has been emptied and I'm running on a combination of fumes and credit. Some days I don't know how much more we can handle, but I know no matter what we will get through this somehow...

Genetic Gumbo

No doctor appointment quite prepares you for an appointment with a Geneticist (Dr. M). This doctor is our final hope, our last stop, the end of the line in terms of our search for a cause to Rae's Hypotonia. They don't just ask you the usual questions...nope...they want as close to accurate accounting of your family medical history. No detail is too small and no family member is too distant. If you even have an inclining that your third cousin twice removed on your mother's father's side of the family may have had something remotely similar to what they believe your child has they WANT to know. It's exhausting!

Genetic Gumbo Recipe:

• Diabetes - we're stubborn and still eat as we please...most of the time.
• Heart Disease - double dose.
• Bad Knees - both my Great Uncle and Dad are bionic and trigger metal detectors.
• High Blood Pressure - some of this is self inflicted...what can I say we're wound a little tight.
• Strokes - "Anymore, anymore...damn it!" was about all my Great Aunt could say after hers...well that and singing hymns, go figure.
• Hip Malformation - can be painful and makes me and my Dad walk funny at times.
• Penicillin Allergies - lost an Uncle because of this allergy.
• Arthritis - are you eating celery or were those your knees making that crunching sound.
• Gall Bladder Issues - that's right we're a gall-less family.
• Kidney Issues - stones...enough said.
• Fibromyalgia - only one person to my knowledge.
• Dementia/Alzheimer's - this is why I journal because I'm sure I will forget everything at some point.
• Miscarriages - none for me thankfully, but she asked about family history so in the pot it goes.
• Seizures/Epilepsy - distant, but apparently relative.
• Psoriasis - which she thinks Rae has on her eyebrows and maybe scalp (yippie).
• Ankylosing Spondylitis - an obscure weird genetic spinal thing where the bones slowly fuse. together and you can't move. In my Dad's case it's his neck.
• Macular Degeneration - eventually causes blindness (I wasn't aware of this at the appointment).

Simmer for 20-30 years and WALA! You have a member of my family.

I know I missed a few ingredients, like Cancer (at least four cases), but it honestly slipped my mind (How does that happen?) and I keep trying to reach out to other family members to find out if there is something we all have dealt with, but don't realize it as a possible genetic thing. Dr. M also asked about my pregnancy and delivery. Which was well for lack of a better word...boring. Don't get me wrong the pregnancy was exciting and delivery (via C-section) was a thrill since our wait for Rae was over, but it was a very uneventful pregnancy. Hallelujah!

After playing 50 questions, it was time for her to give Rae a physical assessment, which was equally as thorough as her questions. She checked Rae's reflexes, her palms, her eyes, her ears, the bottom of her feet...basically every teeny square inch was inspected. Dr. M noticed that Rae responded to some simple commands like, "Do you want the light thing-a-ma-bob? Reach for it..." and of course she did. Rae already has listening to others down better than listening to her Mother. I can't even seem to get her raise her arm(s) (I'll settle for one) when she wants to be picked up.

Once the exam was completed, Dr. M went over how she would like to proceed...with, you guessed it, more testing. What a surprise. She informed us of  Pompe disease (there are so, so many possibilities) that she wanted to test for and apparently Duke University was doing a free study (Yippie! No bill!!). We took our lab orders and went for yet another blood draw. This time I made her Dad hold her because, honestly, I was really tired of always being the "bad" guy when it came to the not so fun stuff. Much to my surprise, dismay, irritation, and thankfulness Rae didn't even react to the sting of the needle. Grrrr! Don't get me wrong, I am happy she didn't have an emotional meltdown, but of course she didn't even make a peep when her Dad was the one holding her arm while it's being poked.

There's no crying in the lab...

Just one more...

All done!

Bandaged and no worse for wear, we strapped Rae into her stroller, made our way to the parking lot, loaded up and headed home (after grabbing lunch at Firehouse we were starving!). It felt like we were there all day, but it was only a couple of hours. Now the real waiting begins...we don't get all of the results until April 26th!