What we Know for Now

For some reason, I am having an extremely hard time with this post. It seems I am at no loss for words when I am in person and goofing off (which I soooo love to do), or when I want to share about my shortcomings and how God is using them in my life to make me more like Him. I can even talk all day about my four silly, beautiful little girls. Oh my, I love those girls.

But Clara.....how very hard it is to talk about what is wrong with Clara. I can tell you about her sweet little smile and her spunky personality. I can even tell you about her uneven little walk, that to some looks weird and strange, but to me, it is so much a part of who she is. Somehow it fits her personality....that baby hasn't let anything stop her yet, and I don't think she will ever let anything stop her without a fight. I certainly hope that is the case.

I have taken some time lately to read back through my blog. It is only about two years old (as hard as that is to believe), but there is a LOT of our journey here. I have become painfully aware of misinformation I have shared...never knowingly...but often because I was either misinformed, or I just posted too soon. When we first started on this journey with little Clara Faith, she was 6 months old and in every sense of the word, a puzzle. I knew very early on that something just wasn't quite right. Mothers know these things. In the early days, I had very little support. I had a handful of friends and some family that believed me and encouraged me, but mostly people just told me I was over exaggerating and she would be fine. I can be a little dramatic, but I am NOT one to run to the doctor at every turn. So when I felt something was wrong, I just knew something was wrong.

I have not shared this openly until right now, but Clara's pregnancy was very different for me. I have shared how difficult the first few months were, but even when that passed and we were in the "clear", I could not stop praying for that baby I was carrying. I wouldn't say I was worrying per se, I just felt an urgency to pray for my baby, even before I knew she was a girl. I can remember laying in my bed and praying until I had prayed so hard I was absolutely exhausted. I felt God lay specific things on my heart to pray for. The day she was born was such a blessed, happy day. I can remember few days that were ever that happy. But in the quiet of the afternoon, after everyone had left to go do "life", and it was just me and my girl in my room...still....I knew. I told a friend on the phone, "I am looking at this beautiful, perfect little girl, but I can't explain it. Something is just not right." I had no reason to feel that way. I just did. We both remember that conversation to this day.

In the first 6 months of her life, her head grew an inch per month. She began to look a little like one of those alien guys with the big ole brain. Other people would say, "Something is wrong with that kid's head." This began what has continued to be visits to a bazillion specialists and sub-specialists. Symptom after symptom, with nothing seemingly fitting together. Everyone we went to, and I do mean everyone, would say, "Well, she is a puzzle."

Thank you for that. Do I get a discount?

Her gross motor skills were increasingly delayed, and and she was increasingly in more and more pain. I can remember when she did start walking at 23 months old (and what a joyous day that was!), she would crawl around the house for the first few hours of the day because she hurt so badly. I am telling you...as a mother, that will rip your guts out. I will not belabor you with all of the details here, but trust me when I say, "Its been a long road." A road that so many of you have walked, cried, and prayed with us. Thank you for that.

Fast-forward to August of 2009 when we finally got in with, who we thought, was the best neuro-geneticist around. (This is where I am having a hard time typing...please forgive me if I have a hard time getting it all together.) I will not even tell you the sacrifices that were made by many for her to 1) be seen by him, and 2) undergo a very invasive procedure that he assured us was so reliable and accurate.

Four months later, we got a report back that said, "Possible/Probable Mitochondrial Disease" and "Oh, by the way, if you want to talk to me about the report, you have to wait two to three years." Yes, YEARS. Apparently he just likes the research. He is not so keen on the patients. Hindsight is 20/20, and I truly believe God allows everything for a reason, but if I had it to do over again, and knew what I know now....NEVER would I do that again. I will not elaborate further. Just trust me when I say that I would not recommend anyone to that doctor again for many, many reasons.

Clara's neurologist, whom we loved and Clara considered her boyfriend, did call us and go over the report and offered to answer any questions we had. The problem with that is that as wonderful as he is, his specialty is Muscular Dystrophy, not Mitochondrial Disease, so at this point in our lives, we were left to pretty much flounder. All the while, Clara was having metabolic crashes (that we later learned could be life threatening) but we didn't know it because no one had told us.  I cannot express my thanks enough for the way God protected her in that year. In addition to all I was dealing with over her diagnosis, and it is a grieving process, it seemed that everything else fell apart around me at the same time. Not only were we trying to raise our support to go into ministry and sell our house, but we had friends whose lives were literally falling apart, not to mention, our little girl was struggling and we were getting nowhere in our attempt to help her, and we had three other precious girls to take care of. Emotionally I was a mess. I am still not sure I have totally recovered.

It was shortly after Clara's diagnosis that I was introduced to "Mito Mom". There will never be one day that goes by that I do not thank God for her and the friend that introduced us. She was immensely helpful and helped me understand so much of what was going on with our girl. I knew we needed help, I just didn't know where to go and no one seemed to know where to point us. Well, Mito Mom kept telling me I needed to see her doctor, and it was at a conference that I met this angel from above. I am telling you, Dr. Kendall is what a doctor should be. She stays up to date with the latest research, she has given the last 20+ years to the treatment of Mito patients, and she loves her patients. She has nothing to gain personally from labs that are ordered and she doesn't order things that are unnecessary. Clara had a crash just days before she saw Dr. Kendall for the first time, and not only did she prepare the hospital to let them know we were coming, she was on her way to a Women's Retreat with her church but gave me her cell phone number in case I needed her. That is genuine concern for a patient and her freaking-out parents.I will let you read about our meeting for yourself (if you have any stamina left after this ridiculously long post). For once, someone who knew what to look for took a step back and looked fresh at Clara. All of those "quirky things" that I had been questioning, "Are these puzzle pieces to something bigger?", she noticed without me saying anything and said, "Clara is one big puzzle and we just need to figure out how to fit the pieces together." Thank you, Lord. Tests that should have been done years earlier were finally being done, and we knew we were finally getting somewhere.

In the last two weeks we have gotten many answers. To be honest, I am not sure how to process them all, which is probably the reason for this ginormous post. I just felt the need to get it all out and process a little. If you are still here, thanks for letting me 'get it all out' on you. :-) The last time we saw Dr. Kendall , she told us that she wanted Clara to see a geneticist that specialized in bone diseases and she wanted her to see an endocrinologist. She felt we were possibly looking at a metaphyseal dysplasia ( a form of dwarfism), or rickets.

Rickets????

Isn't that what the sailors got who had been on the ship too long with no fruits and vegetables?

No, that's scurvy.

Rickets is what you get from a Vitamin D deficiency. Or so I thought. As it turns out there are 2 types. The Vitamin D deficiency type and a familial type.

I thought it sounded a little crazy, but I was willing to trust her and move forward.

It's a good thing we did.

We got a call from the U of M about a week and a half ago. We had been there about a week earlier to visit the endocrinologist and after spending a lot of time with us, she did a whole slew of blood work. ('Slew" is southern for 'a bunch of 'em'.) Now that I have 1) Talked to the endocrinologist on the phone. 2)Read the written report they sent me in the mail. and 3) Talked to Dr. Kendall on the phone, I feel at liberty to share some of what we have discovered.

She does NOT have a metaphyseal dysplasia. Thank you, Lord.

She does NOT have the Vitamin D deficiency type of Rickets. Um, ok.

She DOES have the familial type of Rickets (hypophosphatemic rickets, for my science friends who like to know) :-)...even though we don't have any of that in our family. Apparently it is an autosomal recessive gene....it just happened to kick in when Clara's little body was being formed.

She is being treated for it, and right now, they are hoping her bones will heal. Unfortunately, since it was found so late, there could be permanent damage to her bones. That is up in the air right now. We will just see how she does with the treatments. We go back in three months for another round of blood work and new x-rays to see if the bones are healing.

I don't know why these tests were not done sooner. They are simple tests and should have been included in the many, many other labs she had done. I don't know why a lot of things were not done differently, but here we are. I can honestly say that Jeff and I have done the very best we could do and never, ever gave up on her....and don't plan on giving up on her anytime soon. I have no regrets. God has grown us in so many ways through all of this, and I believe a lot of who Clara is....many of the wonderful parts of who she is...are because of the compassion she has learned in her suffering. That baby has suffered her entire life.

"For I know the plans I have for you", declares the Lord, "plans to prosper you and not to harm you, plans to give you hope and a future". Jeremiah 29:11

This has always been the verse that I have considered Clara's life verse (until she gets her own, anyway), and that promise has never rung more true to me than it does right now.

Where do we stand with the mitochondrial disease? I'm not sure. There will be more tests done and more decisions will have to be made. Her endocrinologist felt we were dealing with both diseases, but Dr. Kendall is not convinced. Clara has a lot of Mito symptoms that can also be explained with the Rickets, but there are still a few that cannot be explained away. She is ordering some more labs and some chromosomal studies that we will have done in June before our next appointment with her. She has told me before, but stressed it again today, that she has seen too many kids falsely diagnosed with Mito based on muscle biopsy results, and she has re-diagnosed these kids with something different, that had someone looked closer the first time, they would have found. She is also working with a scientist who is having great, and more accurate and specific, results with a cheek swab and a blood test. This is still in the trial phase, but she said the data that is coming back is VERY promising. That is exciting to me. It won't save Clara from all she has been through, and countless other precious children, but hopefully it will save children in the future from having to go through all of this.

Emotionally, I am not sure where I stand. In Dr. Kendall's words, I am hopefully optimistic, but I am not getting my hopes up until we know anything for sure. It has taken me so long to deal with the "Mito" diagnosis (and truthfully, I am not sure you ever totally deal with it), that I am afraid to even consider the possibility that she doesn't have it. Don't get me wrong, I would be nothing short of thrilled if that were the case, but I just cannot let myself get excited about that possibility and then have to grieve it all over again. I also want to make ABSOLUTELY SURE that she does not have Mito before we throw that diagnosis out. Can you imagine what a disaster that could be in the future? Not to mention, so much of our life has revolved around that diagnosis....it would be a hard thing to adjust to. I hope that doesn't sound too weird. In the meantime, I will just take care of my girls the best I can.

If you are still here, thank you for reading this whole, gargantuan post. I feel much better...guess I just needed to get this off of my chest. 

I would really appreciate your continued prayers as we sort all of this out. Also, please remember to pray for the children and their families who are suffering, more than we can even fathom, with this disease. On Clara's worst day she feels better than many of these children on their best day. That breaks my heart.

Hugs and Love,
Jeannie