The 'Rett's of the Story
Saturday, July 12, 2014 --
It had been five days.
We had gotten a call from our Neurologist the previous Monday. I had my iPhone on my shoulder as I fed Blake and Andi lunch. "I received the genetic test results," he said. "She did test positive for the MECP2 gene." And there it was. The answer to all my questions from the previous two and a half years. I took a deep breath, thinking to myself "My daughter has Rett Syndrome." I was trying it on for size. It fit, but I didn't like it. Not one bit.
We let it marinate for a few days. We were in reflection mode. Looking back on everything we'd been through the last couple years through this new lens called "Rett". It made perfect sense. But why? Why her? Why us? Why were we just finding this out? My thoughts reeled back over all the doctor's visits, all the paperwork, all the therapies, all the researching...the crying the wondering the praying the hoping. I knew what we'd been fighting was bad, but I never dreamed it could be this bad.
We had a host of friends and family who had been following Blake's progress. They were walking this journey with us, and praying us through it. Some had walked parts of it, others had sojourned the whole way. They deserved to know what we now knew. The enemy was in clear view and we needed to round up the troops.
I woke up at 4:45AM on Saturday morning July 12 -- it had marinated long enough. I had prayed and thought about it for several days, but as my dad says, "Bad news doesn't age well." I sat down and wrote an email titled "Team Blake Unite." At 10:32AM I hit send.
Subject: Team Blake Unite!
Many of you know about Blakely's delays beginning around 15 months or so, and many of you know about her chiari and her surgery last September, but only a few truly know the lengths and measures we've taken and what exactly her last few years have looked like in our tireless pursuit of her health and recovery. It has been a very long two years of searching, wandering, wondering, crying, believing and praying for answers to the mystery of our Blakely Layne and her symptoms. We've been crying out to our God for help and for answers and He has provided them a little at a time in what we believe is all in His perfect timing. This past Monday, we received a diagnosis that finally brings closure to the full mystery. It was a difficult diagnosis to receive BUT we are ever so thankful to be able to stop our search and focus ALL of our efforts now toward her treatment and recovery, knowing exactly what we are fighting and WHO is fighting it with us. We know that God can do "far more abundantly beyond all that we ask or think, according to the power that works within us." We are going to tell you how He's worked through all of this and at the end we are going to ask you to BELIEVE and PRAY with us, that He continue to work through Blakely to bring about His good and His healing.
On June 22 of last year, I sent out an update to family and friends, telling them the results of Blakely's brain MRI. We recounted all the steps that brought us to this MRI. How we had taken her to a Neurologist at when she was 21 months and still not walking independently. At the time he observed her and dismissed the need to do an MRI, saying he thought she was fine and would probably begin walking soon and eventually grow out of some of the hand movements she had begun. We were relieved, and decided to just continue therapy and pray he was right. She began walking at 22 months and we were elated (we are now even more thankful for this). As her walking progressed, we noticed she still always walked a bit unsteady and seemed to have some balance and spatial issues. She continued some atypical hand movements, and slowly we noticed she just didn't seem to want to use her hands for much of anything. We scheduled a follow up appointment with our Neuro at the end of June of last year when Blake was almost 2.5. We went in with our therapist's notes and a list of concerns, asking him for an MRI to rule out anything structural. He obliged, and by the grace of God we took her in two days later, June 21, for a brain MRI. He called us that afternoon with the results. They had found a structural issue, and it was called Chiari Malformation Type 1. Through events that only God could have orchestrated, she had a spinal MRI in Huntsville and in the course of a month and a half, we ended up meeting with a Nuero-surgeon at Vandy, one in Memphis, one in St.Louis and one in Cincinnati, before making the gut-wrenching decision to schedule a decompression surgery for September 3, 2013, in St. Louis. This, just 4 weeks after I delivered our little Andi. To call this time stressful would be a drastic understatement. We pleaded for prayers from friends and family, asking for y'all to pray for a successful surgery and FULL healing. Deep down, I knew the surgery probably wouldn't address all of my concerns for her, but we knew it was absolutely necessary. The pressure on her spinal chord was too much; we had to relieve the pressure and allow her spinal fluid to flow more freely. Our baby needed a brain surgery -- there was no way around it.
From September 3 to January is pretty much a blur. There was a lot of pain and a lot of crying. Though we chose the "lesser-invasive" surgery option of the two before us, it was still a very tough surgery and very taxing on her little body. Now, looking back, it was even tougher on her than we realized. This was a dark time for us, but God provided strength and blessings through it all and through you all...thank you all for that.
In the recovery days, I was scared. Watching her closely, looking for any sign of improvement. I was seeing some in her balance, but other symptoms seemed to persist and some seemed worse. We met with her pediatrician in October, started running blood work , uncovered a genetic weakness in her MTFHR gene (responsible for the Methylation pathway of our bodies to remove toxins), and began giving her system supplements and vitamins where we found she was deficient. We also began B-12 shots. She was demonstrating some Spectrum/ASD tendencies, though her therapists and Neuro just did not think that was an appropriate diagnosis for her, given her eye contact, desire for social engagement, etc. While somewhat relieved by their suggestions, Ben and I decided whatever "it" was, "it" was affecting her brain in a way similar to Autism, so we looked for treatments in this area. I had always regretted the immunization choices I had made for her-- she never responded well and now I know why. I'll never forget what our Neuro said, "if there is a weakness, yes, immunizations can attack that..." I stopped listening after that. I knew there was a weakness somewhere, but we still didn't fully know what "it" was.
Over Christmas, we began reading literature written by Dr. Neubrander in New Jersey. A pioneer in bio-medical treatments for Spectrum symptoms. After reading, researching and watching over 100 hours of video parent testimonials (my mom watched every hour), our parents offered to fly us up to see Dr. N as a Christmas present. We accepted. After 35 hours of paperwork (not a typo), Ben, Blake and I flew up to meet with Dr. N on January 28. This is when the hard work really began. He tightened up her diet, tweaked her supplements, ran some more tests and laid out a 2-3 year treatment plan. One day I'll write a book and give every detail of this part -- but for now I'll give the highlights. He found some major deficiencies, but we had to address them one at a time and very methodically-- keeping copious notes and checking in with him via phone calls along the way. We were encouraged. After beginning B-12 shots every 3 days we saw some improvements -- in keeping with his practice statistics. We ran some more labs to rule out mitochondrial issues, and uncovered very low tryptophan levels (responsible for production of serotonin) -- no wonder mood regulation has been an issue. We started a 6 week trial of every day B-12 shots and with the help of our amazing parents, ordered a Hyperbaric Oxygen chamber for our house to begin an HBOT treatment protocol -- we were liking the improvements we were seeing, as we continued to remind ourselves, 'this is a marathon, not a sprint'.
But I also knew deep down, there is something else going on. We agreed, "we know we are doing the 'right' things, but are we doing 'everything'?"
We consulted with a new Neurologist, Dr. Cruz, at the beginning of June. We downloaded with him on her history and our current treatment plan. He was on board with what we were doing, but agreed there may be some additional concern over her lack of hand use. He suggested to move forward with current treatment plan, but to also explore further genetic testing and he referred us to a Neuro-geneticist at Vandy. We left his office with a saliva test kit to check for genetic abnormalities.
Last Wednesday, I was out strolling the girls. For some reason, I recalled a disorder I had looked up at the very beginning of this journey. It was called Rett syndrome. Marked by odd hand movements, loss of use of hands and a small head size, etc. At the beginning this was dismissed as a possibility because her head has always been large and in proportion to her body. But for some reason, that day I decided to look it up again. The next day at her Physical Therapy session, her PT, Lauren, randomly asked me if Rett's had ever been officially ruled out...Weird. I had just been looking at that myself. I called the genetics company to ask if they were testing her for that gene. They were. I called Ben, called my parents and we began researching. By Sunday, we all "just knew". She fit all the classic signs. God was priming us for the news. Monday, we got a call from Dr. Cruz. She had tested positive for the MECP2 gene mutation. A fluky and rare mutation that only occurs in 1 in 15-20,000 girls. We were devastated, yes, but a peace came too. Answers. We finally had answers. Mystery solved. But, we had to begin processing this new information, this new prognosis. A few days later my aunt Donna sent out this email to "Team Blake":
July 7, 2014 : Today we met the enemy. It has been a long two years of searching, wandering, wondering, and praying for answers to the mystery of our Blakely Layne.
I was thinking about the scripture which we all know so well, Ephesians 6:13, “Therefore, take up the full armor of God, so that you will be able to resist in the evil day, and having done everything, to stand firm.” When we are young Christians we fall more easily because we are not fully armed with the knowledge that we need to guard against the devil. As I go back to the beginning of our journey with Blake and I think about all the things that have been done for her I can’t help but liken those steps to our path to becoming a stronger Christian that can fight against evil and hold up under fierce temptation from Satan. Little did we know we would end up here but the many prayers, her chiari surgery, her therapies, the strict diet, the B12 shots, and her daily supplement routine have all served to strengthen her little body and arm her to take on the ultimate enemy. All those things were working together so that her body can stand firm against the formidable foe known as Rett Sydrome.
I Peter 5:8 reminds us “Your adversary, the devil, prowls around like a roaring lion, seeking someone to devour.”
It seems that RS has been lurking in the shadows, ready to pounce. Meanwhile, without us knowing it, all the paths we were led down were preparing her. God was working in these ways:
1. Blake's name has been lifted up in prayer to our Father by so many who know her and by those who only know of her. That prayer chain has yielded appointments that seemed impossible, invaluable resources from miles away, specialists who became part of our team, and strength and hope to carry on when we felt weariness set in.
2. The chiari surgery helped her regain her balance. If the RS had blindsided us before we found the chiari, we would have believed that her symptoms were a direct RS result and her balance issues would have continued. The surgery prevented other spinal conditions that could have developed without it and worsened as the RS symptoms moved through its stages.
3. After some of her symptoms worsened post surgery, through prayer and determined to get answers, we (Sonja, Brittany and Ben researched until we found Dr. Neubrander. Over the last 6 months, Dr. N has been treating her symptoms by customizing a supplement protocol that is delivering results in some areas.
4. All of the therapies have served to keep her body mobile, teach her muscle memory and help her regain some of her words.
Without all of these efforts she wouldn't be where she is today. And, now we know the enemy and Blake is as ready as we can make her. She is in the fight of her life but Brittany and Ben have done everything to prepare her for this and to help her put on the full armor. She is a trooper and she has a fierce determination! Knowing what she has overcome to this place in time shows her fighting spirit! But, she is not alone...she has a team of supporters surrounding her and cheering her on: Her awesome parents, countless prayer warriors everywhere, everyone of us, and most importantly, she has a gracious and compassionate God who has been there every step of the way guiding through the murky waters when we just couldn’t understand why or where we were going. He knew all along that the enemy would be made known to us and all the paths He led us down were arming her for the fight. We don’t know what obstacles we will face along the way or what seeds of doubt the devil will throw at us along the journey…and that is one of the hardest things to contemplate.
Earlier this week I shared this graphic with Ben & Brittany: “Faith is not knowing what the future holds but knowing who holds the future.” An Almighty God who loves us and who loves Blakely is holding her future. We must trust in Him completely and fully. We wholeheartedly believe that “with God all things are possible.” We hold tight to this scripture: “Now to Him who is able to do far more abundantly beyond all that we ask or think, according to the power that works within us, to Him bethe glory in the church and in Christ Jesus to all generations forever and ever.” Ephesians 3:20-21
We will continue to research, study, take advantage of support organizations, and strengthen her armor in any way that we can. We will love her with all our heart and she will know that she is loved, adored, and supported. She will continue to bring us much joy! She will be a blessing to us over and over again. And, we will pray, pray, pray…God is in control.
So now, we all stare this enemy straight in the eye... face to face. Is it scary?…YES! Admittedly, I am terrified. I want to protect our precious and beautiful Blake from any further pain, discomfort, or uncertainty. I know there will be tears, anxious hours and days, and I know there will be rejoicing and celebrating over each victory, small and large. We are drawing up our battle plan and we march on...ready and armed to fight. And, fight, we will! We won’t give up our dreams for her….we will just place them on hold for a time. We have many things that offer us hope that our little trooper will be the one to defy the odds and use the latest research and tools to gain a full recovery.
And, I dare say that RS has never met the likes of Team Blake!!!
“The LORD himself goes before you and will be with you; he will never leave you nor forsake you. Do not be afraid; do not be discouraged.” Deuteronomy 31:8.
Thank God, she found the words when I could not. I knew God's timing was in this but I was still reeling. When she laid it all out, it was obvious why God waited till now to reveal this to us. We've uncovered ways to treat her, and have already seen improvements that I'm not sure we would have, had we gotten this diagnosis at first signs. Small and big victories against something we didn't have a name for till now.
So now, the enemy is fully revealed. Our daughter has Rett's. It makes perfect sense now. I've known all along she's smart, she knows what she wants to do and say, she just can't get her body to do it... I just couldn't fully understand why. Rett's is an awful disorder, robbing girls of their ability to use their hands and sometimes the use of their entire bodies. It's been described as Parkinsons, Epilepsy, Apraxia, Autism, all rolled into one disorder. Most girls never talk, most girls never walk. Blake is doing both. The walking is not awesome, the talking is a word here and there when she can get it out, BUT she's doing them. She's trying. She's fighting every single day. Turns out they've just recently discovered these girls often need L-Carnitine, Vitamin A, B-12, etc. All of the things Dr. N has uncovered, and then some. HBOT has been shown to help improve Rett symptoms. We started that protocol just this week, beginning with 1.5 hours in the morning, 1.5 hours at night for 30 days, one month on, one month off -- Ben goes in with her. He's amazing.
Good news: Blake seems to be one of the less severe cases, though we are waiting to meet with a specialist to learn more. They have reversed this disorder in mice and say they are "close" to a cure. We know, "close" could mean many years, but it's still good news. We hope it's in time to help Blake. In addition, there are clinical tests leading to FDA approval for hormone treatments (this is not touted as a "cure" but an effective treatment) shown to improve Rett symptoms. We are exploring all of these and even considering volunteering her these clinical trials -- if the Lord were to lead us there. We will continue with Dr. N, because so far she's making improvements and progress. According to the typical stages, Blake might still be in the "regression" stage, but we believe by addressing her bodies deficiencies we are at least fighting to keep her "stable". Her therapists have seen improvement since January in some areas -- this is great news.
Blakely is very smart -- she is cognitively aware of a lot more than most give her credit for. Please watch this video. While she is not as severe as some of the girls depicted, she will continue to face similar challenges.
This is our message -- We are the Goodmans and we are battling Rett with all of our might, but this will NOT define us and we'll fight for it to NOT define her. We are going to Rock it. We're forging ahead with the current treatments as planned and exploring every possible Retts resource and cause available so far. We're going to wear the t-shirts, join the movement, raise money for the cure. She has a great brain, she knows what's going on, she knows what she wants, even when her body might be sending mis-cues -- She's smart. We will continue to treat her this way, and we ask that everyone around us does too. God is in this and all over this. Will it be an uphill battle? Yes. Will we have weak moments? Probably. Will I cry a lot? Likely. That's why we need you guys. We need your prayers, we need your support. We need your help in showing Blake that she is loved and that she IS capable of overcoming these challenges and limitations. We may have to get creative, but we'll do whatever it takes. We'll never lose hope in her recovery. She deserves that from us -- all of us.
Please pray for us as we move forward, as we meet with the specialist at Vandy, as we pursue possible clinical trials, as we search for a cure and as we hope for recovery -- asking for God's provision spiritually, physically, mentally, financially (anybody want to order a headboard or oils? ;)). We will make Blakely the best possible Blakely she can be. We're on Team Blake, and we're accepting any and all team members willing to join the ranks. Donna also coined this hashtag and I love it, #ForTheSakeOfBlake
We love you guys and thank you for the many prayers and support up to now and as we move forward. As an aside, I love number significance, and I noticed we finally got an answer on 7/7/14. The biblical meaning of 7: "Seven is the number of completeness and perfection (both physical and spiritual). It derives much of it's meaning from being tied directly to God's creation of all things." The biblical meaning of 14: "The number 14 represents deliverance or salvation and is used 22 times in the Bible...being a multiple of 7, 14 partakes of its importance and, being double that number implies a double measure of spiritual perfection. The number two with which it is combined (2x7) may, however, bring its own significance into its meaning, as it does in Mathew 1, where the genealogy of Jesus Christ is divided up and given in sets of 14 (2x7) generation, two being associated with incarnation." Kind of cool if you ask me.
With Love and Thankfulness,
Ben, Brittany, Blakely and Andi Mac
James 5:16 - ...Pray for each other so that you might be healed. The prayer of a righteous mans in powerful and effective.
Psalm 56:3 - What time I am afraid, I will trust in thee.
Job 5:8,9 - "But as for me, I would seek God, and I would place my cause before God; Who does great and unsearchable things, wonders without number."
This email set several things into motion. People committed to joining "Team Blake". It inspired plans for a 5K, our website "Team Blake" and hashtag #ForTheSakeOfBlake. All of this, along with the prayers, has given Ben and me the courage we needed to keep fighting for our little girl. When we get discouraged, we try to remember what God has promised, what He's done through her already and how He's blessed us along the way.
We chose to share this email as our first blog post, because we want everyone to understand what we've seen God do up to this point. We've jokingly referred to her diagnosis as the 'Retts of the story', because so much happened even before we knew our little girl had Rett Syndrome. It's kind of an amazing story, and one we feel only God could write. When we get weak, tired, weary...we hope this will remind us of where we have been and give us hope for where we are going. If you want to join Team Blake, we hope you'll follow our blog and learn ways you can get involved by clicking on our 'contribute' tab. You can also read more of 'our story' here.
Thanks for reading such a long post and thank you for being on Team Blake!
Brittany and Ben