Long time in coming

It is time for me to close this chapter of the story. The new specialist that I mentioned in my last post was the one that would hold the last piece of the puzzle for us. This one significant trip to see doctors less than three hours away would be the turning point. God allowed them to recognize symptoms of a specific chromosomal abnormality, 22q11.2 Deletion Syndrome or Velocardiofacial Syndrome or DiGeorge Syndrome (they are all pretty much the same thing). When I first looked up a little basic information on the syndrome I was shocked that EVERY SINGLE thing that has been an issue from the day she was born was on the list. I have done many, many internet searches over the years, with every combination of her symptoms, and had never heard of this syndrome. It has over 180 known manifestations and complications. It can affect every system in the body. She had thirty or so of the issues when we went down the list. That's about typical, from what we read. We waited for a very specific genetic test to be done, and two days before her seventeenth birthday we had our answer. Our baby girl had been born with a special edition, designer chromosome. Her 22nd chromosome is missing one tiny little band of genetic information.

After years of wondering why so many things would go wrong with her, why she was the one with all of these issues, we had our answer. This was the first time that God answered a prayer in a way that broke my heart. This diagnosis would mean that no magic pill would ever fall from the sky and fix everything. There was something so profound and final about the diagnosis for me. It meant that this is how she was fearfully and wonderfully made. Her issues weren't by accident, some unexplained phenomenon. It was a lot for me to absorb. I'm still absorbing.

I can now tell you what's good about having this diagnosis. It means that if another issue pops up, her doctors will have a starting point in treating her. She won't be an experimental project for them any longer. It also changes some of her diagnoses, she doesn't have the super scary Polychondritis. That's a big one. The rheumatologists ruled that one out. She doesn't have Ehlers Danlos Syndrome, she just has super stretchy joints from the 22q. She does still have Sjogren's, however it is in some sort of pseudo remission, and isn't actively attacking her body right now. That is a good thing. She is off all steroids and everything that was suppressing her immune system. She has been seen by a cranial facial surgery team and is being treated very effectively by a neurologist at a movement disorder clinic. She has begun to live a more "normal" life. If there is such a thing. "Normal" could still walk in the room and slap me in the face, and I still wouldn't recognize it. That's how we like it.

So, why did it take almost seventeen years to diagnose the second most common chromosomal abnormality after Down's Syndrome? From what we have experienced since she received the diagnosis, most doctors aren't the least bit familiar with 22q Deletion Syndrome. Seriously. I carry around brochures about the syndrome to give to anyone I happen to come across having anything to do with the medical field. I hate to think that there are other families out there on the same ridiculous merry-go-round that we rode for so long, waiting for answers. I don't fault any doctor that missed it, because that's just the way it is. I want to see that changed. Yesterday.

One thought that has given me peace is that had we known of this diagnosis at her birth, maybe I wouldn't have pushed her to learn. It took two summers of hard work for her to learn to read. I would like to think that I still would have worked with her so hard, but I don't know. God decided that this was the time, and I'm thankful to finally have the answer. We learned a lot about His power and grace during some really difficult times. There will surely be more of those times, but we know that He will see us through.

Just this much.

So it's been a while since I've posted. Things have been difficult, and while writing usually helps me keep things in perspective, it's something I haven't been able to do. During the last six weeks Haley's pain has continued to escalate. She is limited in what pain medication she can take because of stuff she already has to take. We try to comfort her, keeping her calm and semi-distracted because that's all we can do. It's not all we can do, because we pray constantly. That's a lot because I know God still hears our prayers, but it feels like we should be doing much more when prayer for our Mighty God's healing is the most we can do.

Just over a week ago, a wonderful specialist in Atlanta has agreed to see Haley. We beat our heads against walls trying to find a doctor that would see her for the polychondritis and were rejected every time until this doctor. We are praying for him to be healthy, and for him to have wisdom when he sees Haley on July 28th. It was so miraculous for him to see her next month. We waited the entire summer last year for an appointment for her to see a pediatric rheumatologist. This would feel like nothing in comparison if it wasn't for her nose.

Her nose is where this whole polychondritis stuff started. For months, like since at least December, she would frequently complain of pain in her nose. I thought she had a pimples in it or maybe it was a side effect from something she was taking. It did look reddish at times but didn't seem like a big deal at all. When I finally remembered to mention it to her doctor, I quickly knew it was a big deal and that he should have known about it sooner. Last month, he did try to treat the inflammation by tripling her dose of prednisone for two weeks, but that didn't help and the side effects were horrible for her. He then decided that this was more than he could handle and gave us more names to contact. Now, after much (and I mean MUCH) prayer and waiting, she has an appointment with a big time rheumatologist that I believe will figure her out. But right now her nose is still what we refer to as "angry". Reddish, swollen and inflamed. The shape of her nose is changing. She is losing cartilage. We are praying for her cartilage to be healed and for this attack to stop. Now.

Still in all of this God is here. He gives us rest and we have peace in knowing that He is in charge. My heart breaks because my child is in pain but God knows that. There is a purpose in all of this and He still shows himself to be faithful and worthy of our trust. We have been given encouragement from strangers and really amazing friends in surprising ways that are clearly from Him alone. Haley is proof of God's grace being sufficient. We are so blessed.

Lamaze breathing, spiritually speaking

So you've probably noticed it's been forever. If there is a "you". Things have been smoothly going along for the most part. Haley and her brother got "real" cell phones. I say real because they had pay as you go type phones after the washing machine incident where someone proved he wasn't ready for the responsiblity/privilege of having a cell phone. That's about as exciting as things have been . Nice and calm. Haley has had lots of dental work done already this year. Even some cosmetic work for the first time ever. She has been mostly feeling much better. Occasional joint pain but more frequent pain in her nose. Not like sinuses, but her nose itself. It's been reddish, changed shape and seem swollen. I finally remembered to ask her doctor about it. Maybe it's a side effect of Prednisone? Maybe she's allergic to it?

Nope. Her nose is inflamed. More specifically, her cartilage is inflamed. Her ear has been as well. Not often, but she had this bright red swollen spot on her ear a week or so ago. Her doctor examined her and said that he suspects it might be relapsing polychondritis. I know because I wrote it down. He said it's "even rarer than Sjogren's and good luck finding someone that knows enough about it to diagnose it". Of course it's rarer, of course it's hard to diagnose. Of course. He said to start with an ENT. We scheduled her next appointment and left.

By the time we were in the car, my chest felt all tight. The weight of something new was on me already. I had never heard of relapsing polychondritis and had no idea what it was until I called John. Then he Googled it. PSA time: the time to find out about a new diagnosis that your child may or may not have is not when you have to drive an hour or so while trying to digest information that you never wanted to hear. But I was mostly calm and okay to drive. Then the analogy hit me. This is like Lamaze breathing.

When Julia, our oldest was on her way, I took Lamaze classes. Do they still call them that? Anyway, it was about using a focal point to help you focus on staying calm, and using breathing techniques along the way. Basically, it worked for three deliveries, two of them without any medication at all. If I could stay focused and breathe then the pain wouldn't overwhelm me and I would be okay. There would be times that John would lean on the bed and it would shake my focus and I would start to be overcome with pain and panic a little. I delivered three babies without a scream, yell or moan because I was so focused on staying calm.

So I've been trying to practice Lamaze breathing of a spiritual variety. If I am focused on God, and knowing that He is wonderous and all knowing, that He alone has designed my child with a perfect plan, then I have His perfect peace and can be calm. It's really easy to lose focus and feel that same sort of pain and panic overwhelm me but I don't have to. He has given me so much grace and my hope is in Him. He's given me such a gift, to know His power is such a blessing.

We are in the middle of waiting on doctors and really don't know what comes next. The ENT suggested we find a specialist that can diagnose relapsing polychondritis. Yesterday I put it squarely back into the lap of Haley's doctor. I'm expecting him to call but he hasn't. Maybe he's looking for a specialist, maybe he isn't. I'll give him a call tomorrow to see what we do next. But tonight, I'm sleeping. Update to follow

Well it's been a while...

This blog has been a bit neglected. It's pretty much just been here as a dumping ground, and I don't seem to visit unless something new is happening with Haley. Pretty much it's been more of the same for her. The good news is that the medication she has been on is still working. She sees her rheumatologist next week and he'll be letting us know what will happen next in that respect. Hopefully, he's found a few other pediatric Sjogren's patients somewhere that he could get a little more treatment information from. The thought of her on Prednisone for too much longer. It's pretty scary stuff. We'll see.

Yesterday was a visit to Shriner's Hospital. You all know (if there is even a "you"?) that I love the Shriners, they took good care of her again. Her curves have increased more than they'd like to see. Considering how little she's worn that brace, it's understandable. Everyone has a breaking point, and that brace has been hers. For now, they recommended water physical therapy. With her also having the Sjogren's, Ehlers Danlos syndrome and hypotonia (low muscle tone) the therapists there thought water therapy was the safest. So I'm looking. Haley's just glad she doesn't have to wear the brace for now.

Our next stop was to see Dr. L (aka, world's best dentist!) because I noticed a new cavity last week. Actually she had two. That's how fast things go badly in her mouth. Her amazing dentist fixed everything with the least pain and we were off. The dentist had printed me out an article about the oral issues of Sjogren's patients. I started to read it in the office but thankfully, finished it at home. It contained helpful information but also information that shook me pretty good. I've read this before but choose not to acknowledge it. Patients with Sjogren's syndrome have a "twenty-fold" increased chance of developing lymphoma. Not fun to read about your child. The patients studied are generally 40-60 years old, so no one knows what to expect with patients Haley's age. Again, I choose not to think about it. But for some reason, the thought has been creeping in more than I'd like it to. God has been so good to us, and He's given me the most peace that I think any parent of a "special edition" could have. I read Luke 12 today. Verses 22-26 really helped me. Wasting time worrying won't add an hour to anyone's life. That's a good lesson for me. My trust is in the Lord.

mystery no more

Last night, when I thought it would be too late to hear anything from the rheumatologist, the phone rang. The results of her biopsy confirmed a diagnosis of Sjogren's sydrome. This morning she took her first dose of Prednisone. Her doctor told us that because so few kids her age are diagnosed, that there isn't a standard protocol of treatment. He is going to collect some information and see Haley the first week of November. Hopefully her inflammation and pain will subside before then.

I don't know how to feel right now. I'm numb. We needed to know what was causing her hand symptoms and pain. That answer is here, along with the cause of her dental problems. I don't like this Sjogren's syndrome. I wish my daughter didn't have it. There are parts of it that downright frighten me. That's where God steps in. I can't bear the weight of it all right now, so He is helping me out.

We've had enough of all this for now, so we are going to Disney World. Just for the evening. Haley is hurting but wants to go. She'll be on wheels so it won't be too much of a strain for her. The distraction might be nice. For all of us.

Ketchup or Catch up but never Catsup

Okay, tons has happened since my last post. The rheumatologist did a very thorough exam of Haley, we talked a lot and he ordered a bunch of blood tests. He scheduled a follow up appointment in January and instructed me to call him in two weeks for him to review the test results.

Haley woke up the next Sunday morning with an aching body and fever. She had no energy. I thought that she was getting something like the flu and just gave her motrin for the pain and tried to keep her comfy. On Wednesday her rheumatologist called with some news. I asked him if I should get a pen and he said that would be a good idea. Haley tested positive for ANA, and another antibody SSA/ro which is one of the indicators for Sjogren's syndrome. Sjogren's syndrome is an autoimmune disease that causes your white blood cells to attack your moisture producing glands. Like your saliva glands, causing severe dental problems. The doctor wouldn't have run the test in the first place because of Haley's age, but her dad asked the doctor to test her for it. Why?

Because John watched an episode of Mystery Diagnosis with me that profiled a lady that had it. While that episode sounded like some of Haley's symptoms, I had given up on suggesting potential diagnosises to doctors. But John thought she should be tested and told the doctor just that. Thankfully John did and the doctor listened. First, you should know what a "God thing" it is that John even watched that show with me, I tivo it, but he usually won't watch it. If there 's no one getting arrested, catching a fish or football or fugitive, then it's not something he' ll watch by choice. God put this diagnosis on our minds, and here we are.

Haley would need a Schirmer's test to measure the tear level in her eyes. I don't think she has dry eyes, but less than normal. She would also need a salivary gland biopsy to tell if her salivary glands were being attacked by this syndrome. Not fun and invasive. Her doctor said that he didn't know who to send Haley to for the biopsy or what lab could do the pathology. My head spun a little for the next day while I found places to have the tests done. The eye test was easy, her eye doctor (who she loves) could do it. The biopsy wasn't so easy to figure out.

In the mean time, Haley was still sick and achy. I took her to her pediatrician the day after we got the results, thinking that she might need some antibiodics to get over whatever was making her ill. Well, we found out that what she was having was inflammation caused by something. She needed to be treated by her rheumatologist for whatever this was. She was in so much pain. Her shoulders and arms were the worst. Haley wasn't sleeping and just looked gray. Her rheumatologist called in a couple of different prescriptions that didn't help. He told me that he couldn't give her anything that would interfere with her biopsy. We had to get that biopsy done fast so that he could give her something more effective for her inflammation.

I had a couple of flustered days trying to coordinate everything. Then everything fell into place. The rheumatologist's office helped us get everything lined up. God was so gracious and showed Himself faithful again. The pathology was set, doctors appointments opened up and so did the surgical center. This would happen quickly and she would get some relief when it was over. Done.

Not so fast. There were concerns regarding the specimen getting to the right place and making sure it was handled correctly. At the last minute, the decision was made to put off her procedure an extra three days and change it to the location that the pathology would be handled (a children's hospital). My first reaction was to be upset because that would mean three more days before they could give her treatment for her pain. Then it hit me. This was for the best. Another "God thing". She would be at the best facility and there would be no question regarding the specimen. I was thankful for the change. Then early the next morning the phone rang. Haley's surgeon wanted to do the procedure that afternoon at the children's hospital. She was still sleeping, and hadn't had breafast. It was perfect. We woke her up just before we had to leave. She got dressed and we had our family prayer then left. There was no time for anxiety for her. It would have been so hard for her to fall asleep if she had known that this would happen. God worked it all out. They took great care of her and the biopsy is over.

She's sore. Her throat is bothering her (from the tube while she was under) and the site of her biopsy hurts. Haley's shoulders still hurt too. I just called the doctor because she needs that better medication before the weekend. Yes, I want to know the results. I am not patient right now. At all. A big part of me thinks that the test will be inconclusive or negative. Nothing has been clear cut for Haley. Why should now be any different? Don't think for one minute that I want her to have Sjogren's syndrome. If she has it we need to know to take the best care of her. What I want is an answer that will lead to her relief.

I love Psalms 139. It is reassuring that God knew every bit of this and nothing was secret from Him. He isn't surprised by any of this, any new symptom or pain. He knew that our hearts that are blessed by having our children would break when they are hurting. That's where 2 Corinthians 12:9-10 comes in. His strength has been made perfect in our weakness. When I have been at my absolute weakest moments in the last few weeks, His strength is revealed in huge ways. There is no way that I could walk this without the reassurance that He gives me. It comes from scripture, answered prayers, kind strangers and steadfast friends. It's all going to work together for good. God is worthy of all our praise no matter what.

an epiphany of sorts

Today is the day of Haley's big appointment. I've made sure that everything is ready. Made sure we had all notes and documentation. Everything was ready on Friday for today. So this morning I started to gather it all up. First, I couldn't find our insurance card, and for some reason our printer is on the blink. After fighting with the printer for a while, I needed to grab the map to the doctor's office. It was not where I left it. That's okay, the directions were on line. As long as I had the notebook, everything would be fine. That held a few jotted down notes to ask the doctor, as well as a photograph of particular interest. The photo was taken underwater when we were playing in our old pool with an underwater camera. It showed Haley's foot out of joint and folded over. That picture was taken on accident, but was helpful to her doctors in the past. It was from our pre-digital days, so there weren't many copies.

Anyway, I couldn't find anything that I had planned to take to the doctor. Notice how many "I's" are in this so far? With my hands buried under the sofa cushion, the epiphany came. God doesn't need my help with this. It won't matter if I have my notes, or a photo. Those things haven't been magical in the past. I have to let go of this too. God's got this one. He can use this doctor to reveal the answers that we so desperately seek and have sought. God alone. This is so much bigger than us, and everything I've done to try to find answers has failed. That also means that if this doctor can't figure Haley out, it isn't my fault. It's part of God's plan. He will still be praised.

Answers, anger and what happened next

The neurologist took a bunch of notes then ordered MRIs of her head and spine (for the spina bifida occulta). It was quite an experience, she hated being sedated. They did her brain first, then had to move her around to do her spine. She stayed asleep for both. Her brain was very normal looking, but her spine showed that she indeed had spina bifida occulta. The neurologist said that the damage was significant for that type of spina bifida, and if it was the next vertebrae up, that she might not have walked. Her bladder and bowel sensations are reduced, meaning that when she says she has to go, that means now. Other than that there were no physical findings from his testing. Here's the fun part. The hypotonia and intellectual issues are symptoms of a neurological disorder. But they can't find it or explain it. We might not ever know the cause.

Let me just stop here to say I was disappointed. During the years that she recieved negligable medical care, I had built up in my head that things would be different with a "real" doctor. They would find her problem and fix it. Like magic. Well folks, there are no fairies and unicorns in this story. After all the doctors and all the tests, her diagnoses are just mostly symptoms. It was explained to me like this. All it takes is one light on a string of 200 to be burned out to keep the whole string from lighting up. You may never figure out which lightbulb is out. That's how neurological stuff can be, only times a thousand. And that one little bit of offness can change everything.

I became an angry person at this time. She still had a mixed bag of problems. It seemed like they were connected to each other somewhere but no one knew how. The genetecist couldn't figure her out. Tests had been done by an assortment of doctors that knew what they were doing, but still no real answers. My anger wasn't directed at the ones that tried to help. It was directed at the doctors in the military. Two things happened that set me off. One doctor told me that there were tests that should have been done within the first couple of years of her life that might have given them more to work with. Another told me that she should have had "medically relevant" therapies from birth. Hearing those things brought out the mother bear in me like never before.

There wasn't an attorney that would sue them. According to the law, I could make them pay as a civillian dependant on behalf of my civilian dependant child. But the military has endless resources and because we weren't dealing with tangible injuries there would be no lawsuit. I still wanted them to pay, and to never do this to anyone ever again. God was out of this equation for me. I didn't seek Him, ask for grace or peace or mercy. There was no forgiveness in my heart for those doctors. None at all.

One day I felt so heavy with it all that I finally prayed and asked God to help me deal with it all. I had always prayed for my children and especially for needs that they had, but not to ask for help in dealing with this all. You aren't going to believe me about what happened next, it sounds a little corny and made up. I was praying at my computer. When my prayer was over I opened my eyes and focused on a photo next to me. It was of my three children when they were babies. They were literally babies all at once. We had three in 37 months, our two girls first then our son. At that moment it hit me. If we had known everything there was to know about our youngest daughter's issues we would have made the decision to not have anymore children. We probably would have done something permanent. At that moment I focused on that picture I saw my son. The one we would have never had if we had known then what we knew now. If those doctors had done what I wanted them to do, we wouldn't have had him. My anger was gone. Just gone.

That was an awesome moment and an awesome realization for me. It's when I" let go and let God" for the first time in a long time. He had given me so many gifts and I was unable to appreciate them fully because I was wrapped up in months of anger. It was still going to be hard. Days came of sheer despair, we still have a few of those now and then. The difference is that He's in it with me. God has come through with that grace and peace and mercy. He's given us so many gifts along the way that are clearly and miraculously from Him alone. Oh, and I've never sued anyone.