Diagnosis Day

There has been a lump in my throat that I could suffocate in. I've watched the calendar approach, anticipating this day, April 2. The day our lives changed forever with one simple phone call.

Waiting. We had been waiting for five months for the genetic test results. But why would these test be any different? They had always come back "normal". We end up feeling a mixture of relief and disappointment. We would forge ahead...to the next doctor, the next therapy, the next IEP, the next EEG, travel to well- known hospitals- all to deliver the same news- "Normal.  Don't know. Time will reveal." Three long years of waiting. Well time did reveal the answer. All that waiting came to an end with one phone call in the middle of car line.

One sentence shattered our world as we knew it. "Sadie's results came back positive for a mutation in the MECP2 gene. Sadie has Rett Syndrome." There was no delay in my emotions. The flood of tears came immediately. The thought of regression and wheelchairs and confusion loomed in my head. I could not breathe. I could not see the other cars in line through my tears. I remember breaking out of car line and pulling to the front. My children piled into the van, expecting a "normal" day yet they were faced with their mother’s head resting against the steering wheel, sobs wracking her body. The van was silent except for the sound of my grief.

I didn't know what to do or where to go. Numbly, I drove to my friend’s house who lived in the neighborhood. I fall into her arms and we weep. My oldest, tender hearted boy who is wrapped in a touch shell, demands the Internet so he can google "Rett Syndrome' and learn all there is to know. My mother in law soon arrives and holds me in her arms. We weep for my baby girl. The Dad calls Joe and tells him he needs to come home. He delivers the news. The night was a blur of heartaches, questions and an answer- yet it was the answer we were not wanting. Of all things, please don't let it be Rett Syndrome. There is no way it could be, I thought. Her regression was like a thief, sneaking in and slowly stripping her voice away. It masked itself behind seizures, developmental delays, and seizure drugs. We were unprepared.

Can you ever be prepared for D- Day…diagnosis day? Can you ever be ready to hear the answer, the missing piece you had longed for? Begged for? Pleaded to God to give you the answer to why your baby girl could not talk, could not function like other little girls her age?

You are never ready. Even when you long for the answer.

This past year has been one of the hardest of my life. It has been filled with so much pain, heartache, and broken dreams. So many asked if it was good to finally have the answer. Yes it was. But when the relief of an answer was met with no cure, nothing to stop it, it left us wanting.

Questions loomed- but Sadie can walk? She still has purposeful use of her hands? Will it all be stripped away? Just like her voice? Confusion reigned.

And so a year has passed. We have clawed our way through most of it. It has been ugly. But through the ugly, there has been beauty. This beautiful girl is so full of life. Her smile and laughter bring us so much joy. We have learned to rejoice in the smallest things. We have learned to appreciate the tiny victories- tiny to the world, but to us- HUGE! Sadie has learned to pedal a tricycle this year. She has learned to dribble a ball. Watching her bounce the ball, throw it up to the goal, and it bounce around and sometimes land inside- PURE DELIGHT on her face. She throws back her head and lets out a glorious laugh. These are the moments of joy. Watching her zoom around on her motorized 4- wheeler, standing up while going full speed…pure joy! Watching in wonder at Daddy's face covered in shaving cream, then gently touching his cheek and kissing him- heart swelling love. The tender relationship she shares with her sister, who always wants to carry her around (even though they are almost the same size), is a gift. It wasn't the relationship I was expecting, but it is beautiful nonetheless.

So I choose to think on these things. The ways in which Sadie has changed all of our lives for the better. The beauty coming from ashes. A life that is significant. A child made in the image of God, who is fiercely loved. Her life will look different than those around her. She will struggle. We will struggle. The sting of other children making fun of her cuts me to the core, every time. It pours salt into my open wounds. And I grieve all over again.

What has struck me the most this year is the grief. It is always present. It can sneak in and swallow me. It comes when I am unprepared. I wonder often if I will always be this way… the new me. I don't often like her. I wonder if she will ever pull it together. If the disappointment will ever fade. The realities of caring for a disabled child is beyond stressful. The thought of "I can't keep doing this" and "how am I supposed to keep doing this?" play on repeat in my mind. The changing of dirty diapers with an unwilling participant, the behavior of a toddler in the body of a 6 year old, the chasing around the couch, the repetitive cries of her favorite word "no", the endless messes, the escaping out of the house and fear of not finding her, the inability to understand what she is trying to communicate. The frustration.

After the news on April 2, 2014,  I posted this verse from a hymn. "Because He lives, I can face tomorrow, because He lives all fear is gone. Because I know, He holds the future and life is worth the living because He lives." And I know that this is how I will press on. He will be enough for me. He will sustain me and give me the grace I need to make it through another day. Joy comes in the morning.

As I look back on this year, I can see how the Lord has made me strong. He has enabled me to get up each day and care for my family. He has made our marriage strong though the hits on it have been the worst so far in 12 years. He has given me a voice for the disabled. A heart to minister to those like me. He has allowed us the opportunity to start a special needs ministry at our Church. He has given me the courage and endurance to run a half marathon (WHAT!) in honor of my daughter, while raising $9,000 for research (GO TEAM SADIE!). He has surrounded me with loving friends and family.

He has been enough. And He will continue to be. I'm so thankful for my God, who isn't impatiently waiting for me to pull my crap together. He loves me and calls to me, in the midst of my brokenness, to come to Him and lay my burdens down. This song has washed over me many times like a balm to my soul.

Come out of sadness

From wherever you've been

Come broken hearted

Let rescue begin

Come find your mercy

Oh sinner come kneel

Earth has no sorrow

That heaven can't heal

So lay down your burdens

Lay down your shame

All who are broken

Lift up your face

Oh wanderer come home

You're not too far

So lay down your hurt

Lay down your heart

Come as you are

There's hope for the hopeless

And all those who've strayed

Come sit at the table

Come taste the grace

There's rest for the weary

Rest that endures

Earth has no sorrow

That heaven can't cure

Fall in his arms

Come as you are

There's joy for the morning

Oh sinner be still

Earth has no sorrow

That heaven can't heal

 David Crowder - Come As You Are

I love the last line. One day the Lord will make all things right. Sorrow will be no more. Come quickly Lord Jesus.

The Cleveland Wrap- Up

It has taken me a few days to bring myself to write this update. I am sorry that I have kept you waiting...my mom said I brought everyone to the top of the mountain and then just left you hanging! Certainly not my intent;) sometimes you just need time to process and this has definitely been one of those times.

We are so thankful that we went to Cleveland Clinic. We feel like most of our questions have been answered and that we have the confirmation we need in order to move forward...though they weren't quite the answers we were hoping for. The drs felt like Sadie's EEG was in line with the the original diagnosis of Benign Rolandic Epilepsy. Her EEG was still abnormal and very active at night, meaning that it was misfiring while she slept. She does have electrical discharges while she is awake but they are not as frequent and consistent as when she's asleep. Sadie never did have a seizure while we were there and that was super frustrating! In the end, we have to know that it just wasn't necessary for them to make a decision. She did have some of her usual wakings at night with her trembling. These episodes did not have any changes on the EEG and were diagnosed as Parasomnias ( which is one of the first things she was diagnosed with back when all this started in 2011). Parasomnias are a spectrum of sleep disorders that she will outgrow.

So with all of their observation and readings of the EEG, they felt like her epilepsy falls right in line with the Benign Rolandic Epilpesy diagnosis. They encouraged us to come off of some of the medicines she is on since it really wasn't doing her much good. There was no real change in her EEG with or without the medicine. So we already came off of one and will work to move off the other med soon. If all goes well and her nights seem to remain consistent, the goal will be to remain on the one seizure medicine. This was encouraging to realize that not all her night episodes are seizure related. So while we were thinking they were, we continued to chase a medicine that would calm down the electrical discharges as well as seizures. With this new information, we see that we were chasing something that really might not have been there. This relieves a great deal of stress trying to find the right medicine to work for her.

That leaves us with the cause of the developmental delay...upon closer inspection of Sadie's MRI, Dr. Lachwanni said that her brain structure pattern showed signs that her developmental issues may be more related to her brain development and less caused by her seizures. Although the Birmingham doctor said the MRI was normal, Both Dr. Lachwanni and Dr. Brad felt like her developmental delays may be a more permanent issue. Only time will tell exactly what challenges Sadie will face as she gets older.

Although this was not easy to hear, it was reassuring to know that we are doing all we possibly can do for Sadie. Please continue to pray for Sadie and for us as we process this news.

This would be very overwhelming if it wasn't for the faithfulness and goodness of God, which our hope rests in and which we have already experienced so much through this journey. We look to the promises of God (Romans 8:28, Matthew 6:25-34, John 9:1-3) to encourage us as we take things one day at a time.

Thanks for joining us in our journey. We are blessed to have such amazing family and friends to support us along the way.

The Lockdown Continues

Oh where to begin! The night did not go as hoped for. Sadie did sleep great after we waited for over an hour for her meds...this being 9:00! Then as soon as she fell asleep it seems like everyone must come by to poke this poor baby! It baffles me the way hospitals run. She finally sleeps the door knocks, lights flip on and in comes a tech to insert gel/lotion to the EEG leads on her head!

At 3:30 am Sadie kept crying and squirming, so I called for the nurse to check her temp. It was 99.9 (not a fever for them) The nurse aid discouraged the Tylenol so we continued to lay there for two hours of the same crying and irritability. I called back for the nurse, her temp was now 101! She was given the Tylenol and then proceeded to vomit a few minutes later! In comes the clean up crew, change of clothes, disconnecting and reconnecting wires, suppository, re wrap the IV hand, chest X-ray, respiratory panel which involved a lovely nose swab, more gel on the leads, Dr. Brad popped in, bfast came and went and here we are! All with no seizures:(

Joe and I both feel discouraged that this cold she has is hampering her experience here. It feels like how did we come all this way for her to get sick and still have no seizures! Dr. Brad reassured me that it was not damaging her EEG results and in fact sick kids will seize more. So that made me feel so much better. Sadie will not get any of her meds today and that might help induce seizures.

I heard this song this morning and it always encourages me.
It is by JJ Heller, Your Hands...
"I have unanswered prayers and I have trouble that I wish wasn't there.
And I have asked a thousand ways that You would take my pain away.
I am trying to understand How to walk this weary land
Make straight the paths that crooked lie, oh Lord, before these feet of mine.
When my world is shaking, heaven stands.
When my heart is breaking, I never leave your hands.
When you walked upon the earth, You healed the broken, lost, and hurt.
I know you hate to see me cry. One day you will set all things right
Your hands that shaped the world are holding me...they hold me still"

How I long for Heaven and for the day when God will set all things right. Until then, I am surrounded by brokenness, death, heartache, disappointment....but I am also surrounded by the love of Christ, showered upon us through His children, blessings upon blessings, the hope and security that only Christ can bring. Our prayer continues to be that God will use our pain in our lives and in the lives of others. May He continue to be glorified.

Was glad to see this man show up with my coffee today!!! Thankful Joe is well rested and eager to take over! Love him:)

Quarantined!!!

So I gave Sadie my cold, (it's hard to resist those kisses;)) and now she has a low fever and barking cough! The night did not go well with all her coughing, so that was disappointing since we need a clear EEG reading and seizures. The doctor quarantined her and everyone who enters the room must be masked, gloved, and robed! Feels a little strange!
The Child Life specialist brought her play-doh, crayons and a coloring book! I am not sure who has enjoyed the play-doh more, her daddy or her ;)
Things to pray for:
~her congestion would go away and that she could sleep without coughing. She seems to feel puny but is content sitting in bed! For those who know Sadie, this is highly unusual for our "ping pong" girl! Maybe this is a blessing is disguise ;)
~continued wisdom for the team of doctors
~as weird as it is, that she would have seizures so that the drs can know what we are dealing with. They will begin to decrease her meds today to hopefully induce seizures.

It has been great to have Brad aka Dr. Ingram on our team! Nice to have a familiar face around who also keeps us up to speed!
Well, that's all for now! Here's hoping to an eventful day!

All hooked up and ready to go!

For the 5th time, Sadie got hooked up with the EEG leads. It was every bit as traumatic as the past ones. Poor baby just cried and cried...it just breaks your heart. But we managed and she fell asleep so fast afterwards! Thankful for that!
The plan is to see how she does on her meds and go from there. She had some episode that the "eyes in the sky" caught...she was wide awake and we heard the alarm go off. But sure enough she was shaking. So I will be Interested to see if that was seizure related. If so, glad for the 4 sets of eyes on her all day! Will keep you posted! They will be drawing blood and checking levels as well as putting in an IV in the morning. Joe is with her tonight and I will take one for the team at the hotel;) it's a shame they won't let us both stay the night ;)
Thanks for all your prayers and encouragement! 'Til tomorrow...

We made it to Cleveland

We are in Cleveland. This is Joe updating blog, so hope I don't disappoint the readers. May have to wait on Susie to get more of the details. Yesterday started out rough when I got a call before we even left home that our flight out of Augusta was delayed. That 45 minute delay caused us to miss our flight out of Atlanta. We ended up not getting on another flight until 7:00, so had to spend 6 extra hours in the Atlanta airport. It was frustrating at times but Sadie had a good nap and we at least had lunch and dinner paid for by delta. Sadie actually enjoyed the plane flights. The flight to Cleveland was really rough because of weather but Sadie thought it was fun and said weeeee everytime we had a bump. They stuck us in the back of the plane and she was a hit with the flight attendant and other passengers around us.

We continue to be amazed and blessed by how the Lord provides and has paved the road ahead of us for this trip. Susie had a friend from high school donate points to pay for all 5 nights in the hotel! We also have a great friend in Macon whose sister lives in Cleveland. She arranged a driver to pick us up at airport and take us to hotel. When we got to the hotel there were gift baskets waiting for us in our room! They were filled with goodies for both us and Sadie.

We are so thankful for the love and support from so many people. It truly has made this trip be about Sadie and not have to be stressed with expenses or anything else. God has shown his faithfulness and presence with us continually.

We are about to head to the Clinic to get Sadie checked in. It probably will be a long afternoon of shuttling to different offices before getting hooked up. Thankfully Sadie is napping right now. Please pray she can do well as she gets hooked up and that the nurses will be gentle with her and God would give her peace as she goes through this. We will keep you posted. Please also continue to pray for wisdom for doctors and those evaluating Sadie. We are arriving here not sure what to expect but wanting to do what is best for Sadie and confident God is directing this process and He knows the plans He has for our sweet girl. May our lives reflect His glory and grace as we go through this week and may He continue to make a name for Himself.

The Big Sale

This past weekend with the help of our church we had a garage sale to help raise money for a service dog for Sadie! We were absolutely blown away by the Lord's great provision! To be a part of the body of Christ is truly a great privilege. We saw the Lord work in ways we never would have imagined! So many people donated awesome things, their time, yummy baked goods, money donations...we were so humbled by the outpouring of love!

We raised over $5,000!!! So many of you are curious about the service dog and why we are getting it and shocked by the cost of one...well, we are too! We are in the midst of learning more ourselves and researching the best thing for Sadie. You can pray that we would have wisdom on which agency to go through and for the rest of the money to come in. I will have more time on my hands next week while in Cleveland so I will share more then.

Joe and I just want to thank everyone who made last Saturday possible! Emily, we couldn't have done anything without you! We have never laughed so hard and you made the entire week a joyful one and not stressful as we saw three yards pile up with STUFF!!! To all who gave so generously, THANK YOU! We saw the Lord's love and grace through each of you. It's amazing to see Jesus work through His people through baking treats, donating stuff, giving their time, sharing their garages and yards, strangers showing up with sausage biscuits for the workers and being worker bees, bringing meals, going around town putting up signs, neighbors who I barley know showing up with all the above...seriously BLOWN AWAY!

Headed to Cleveland Clinic

So we are headed to Cleveland Clinic on Monday! We will be taking Sadie there to meet with some of the top pediatric neurologist in the field. Sadie's appointment is on Tuesday and then she will be admitted into the Pediatric Imagining Unit that day for three full days of testing. We are anxious about this trip because as my friend said, "these are the ones who are writing the textbooks". He also said that the testing won't look any different here but "their magic is in the interpretation".

We feel that this is our last step for opinions on Sadie. After visiting the Cleavland Clinic, we will have exhausted our options. I feel like no matter what they say, we will know we did everything we could do for Sadie.

The Lord has made his name so great through our journey and He doesn't stop! One of the reasons we are taking Sadie to Cleveland is because of their reputation, but also because one of my friends, Brad Ingram (said friend above), from high school just happens to be there doing his Fellowship in Pediatric Epilepsy! Coincidence??? I think not! I am convinced that God's hand is ALL over this and He has led us to this clinic at THIS time. So part of me is excited and hopeful, and part of me is dreading the whole thing. I am just so glad that Brad will be there and be able to interpret for us and make us laugh! He is hilarious!!!

Would covet your prayers for this time. Please pray:
~ that Sadie would do well on the plane
~ wisdom for the doctors evaluating Sadie
~that Sadie would remain calm during the EEG hookup
~a room at the Ronald McDonald house (only one parent can stay with her at night)
~that the Lord would prepare our hearts for their opinion
~our trust would remain in the Lord and not their answer

Will be updating this so please check for updates and prayer request. We could not have gotten through this so far without the prayer of the saints. Words will never be able to express our gratitude and love for you.

MRI Results

We are so thankful that the MRI is normal! Sadie's brain is healthy! So this confirms that her seizures are due to electrical activity and no abnormalities! Her Dr is hopeful that finding the right medicine would enable the electrical activity to decrease and cause her development to improve...so we will continue to see if this new medicine is effective. We are on week one of the full dosage, so another week and we should know something. She does seem to be having less seizures, so we are again cautiously hopeful. The last time with met with the dr he said that once you have 2 to 3 failed medicines the chances of finding one to work are slim. This makes Sadie's 7th medicine, though 2 were discontinued due to negative side effects so they don't count.

Honestly, it's hard to get too excited about the medicine working because we have been let down so many times. So I proceed with cautious hope as for the medicine, rejoicing over the normal MRI results, and continual trust that the Lord is good, always present and showers us with His great love.
We were reminded of this truth this morning as we pulled out of the driveway. We were greeted by the most breathtaking sight in the sky...how gracious of God to give us such a gift to gently remind us of Who He is.

"I lift up my eyes to the mountains- where does my help come from? My help comes from The Lord , the Maker of heaven and earth." Psalm 121: 1

"The heavens declare the glory of God; the skies proclaim the works of his hands." Psalm 19:1

The Next Step

So I realize that I am the WORST blogger in the world! I have wanted to update for so long but I always get overwhelmed trying to catch up. I am always so encouraged by the prayers of many of you and so I am going to do by best to keep current! We have a very big month ahead and so I figured that this would be the best way to keep everyone informed.

Since the last post, we have had another 24 hour EEG with the same results, tried another seizure med with no positive results only negative side effects, the SCN1A genetic test was normal, and no spinal tap due to a hospital scheduling error.

Fast forward 6 months...Sadie has turned 4 years old! At her last IEP meeting, her teachers encouraged us to put her in full days so that she would get as much therapy as possible. We were very grateful for this provision for Sadie, yet sad at the same time that she needed this extra time...wasn't quite ready to send off my baby girl so soon. So for the last 1 1/2 months I have found myself navigating the waters of all three kids being at school all day. It has been nice to have a much needed break and time to rest! Sadie is doing wonderful at school and seems to be making improvements. She continues to wake every night and we are still trying to find the right medicine combination that will help calm the "electrical firestorm" that is going on in her brain when she sleeps. Sadie's development  is pretty much the same, though the teachers feel that she is making progress.

We go tomorrow for an MRI at UAB. They will put Sadie to sleep in order to do the MRI. We will meet with Dr. Mathisen after the test to get the results. The last MRI back in September 2011 was normal. A lot has transpired since that test, so we are unsure of what to expect. We will also be traveling to Cleavland Clinic in March to undergo a 3 day EEG and meet with some of the best neurologists in this field. This will be somewhat of a third opinion and really the final step in exhausting our options.

Many of you have asked how you can pray...I am hoping to use this blog to better update and ask for specific prayer requests.
you can join us in praying: that Sadie would tolerate the anesthesia well tomorrow, that the Lord would prepare us for the results, continued wisdom for the doctor treating Sadie, perseverance for our family as we travel this road.