Days like these.

We still have eye pain, but no diagnosis. She has (sort of) been to see two doctors in the last 24 hours. The first was yesterday morning.  The specialists that she usually sees at a huge practice were all booked up so they were able to squeeze her in with another doctor that she hasn't seen before.  He was super nice, but proceeded to tell me that they needed to put silicone plugs in her eyes to keep the tears from draining. He was convinced, from reading her chart, that she was having dry eye pain. He then proceeded to talk about her bladder? and different ways to flush out her eyes.   When I reminded him that he hadn't looked at her eyes, he humored me and took a quick peek.  What?  We left without a thorough examination or any answers as to why she is having so much pain in her eyes.

I called the optometrist that our family uses at a different clinic after speaking with the rheumatologist about what specific tests needed to be done.  The person that scheduled us said that they could do those tests, so after another painful night, I woke her up bright and early for another appointment.  When we went back for her to be examined by that doctor, I explained that we needed to rule out Uveitis, and she informed me that she wanted to get my daughter scheduled with a retina specialist (who she has been to in the past) because she wanted her to have more testing than what she could do in the office.  So, we now have an appointment tomorrow morning with the specialist I probably should have called in the first place.  Three appointments with three different doctors on three different days for the same issue. In all her years of dealing with health issues, this was a new one for us.  

My sweet, strong daughter sat down in the car and proceeded to have a very well deserved melt down. It doesn't happen often, but every once in a while she just has enough. Really, who wouldn't?  She came home to have her favorite lunch of sushi followed by a long nap.  Tomorrow she will start all over again. Visit the doctor, go through tests and hopefully get some relief.  

I really wanted to go outside and scream but I'm writing instead

So I haven't touched this blog in years. I'm here and not very happy about it.  Tonight the weight of my daughter's most recent diagnosis is weighing on me. Getting the "big" diagnosis, 22q11.2 Deletion Syndrome , wasn't the end of the story. It just means that more and more will go wrong.  I'm not being pessimistic. This is our reality.

We had been skating along as much as we have in years( "skating" means coping after three separate reconstructive surgeries on her eyelids this summer and every other diagnosis she already had) when some new painful symptoms popped up.    She was having lots of lower back and hip pain, as well as limitations in how well she could bend.  This went on for a month before I remembered what I tried to forget and called her rheumatologist.  You see, over a year ago, she tested positive for antigen HLA-B27.  It is an indicator of some pretty nasty stuff and after I googled it and realized that not everyone that has the antigen develops problems, I decided to put it out of my mind and deal with the problems of the here and now.   I successfully put it out of my mind to the point that I didn't realize that the red flags were flying.

After over a month on Meloxicam and a short course of steroids, she had an MRI of her pelvis to check her sacroiliac joint for inflammation.  Her rheumatologist called that night to tell us that the MRI showed inflammation, thinning of the joints and edema.  The diagnosis is Ankylosing Spondylitis and Sacroiliitis. The nasty stuff was here and raging.  A week later she started on an injectable drug called Enbrel which has the potential for another set of nasty side effects but it's the weapon of choice against Ankylosing Spondylitis, so we don't have a choice.  I am especially thankful that our insurance plan and her Medicaid pay for it together. The cost of her first month was 2,284.00.  Tuesdays and Fridays are her injection days. Even when I let the medication warm up to room temperature, it still burns going in.  I'm not certain that I'll ever be okay with giving her shots but it's what we have to do.  Today was the beginning of the third week on Enbrel.  She now takes Celebrex for the pain and inflammation too. Now we just wait to see if this is all going to work.

Yesterday she started complaining that her eyes hurt.  We are passing around a little cold so I really wanted to believe that she was just uncomfortable from that.  Then late this afternoon she started complaining again. This was after her eye doctors' office stop answering their phones. Things like this always happen after hours.  Now her eyes are aching and burning.  She doesn't know this but there is an inflammatory eye condition called Uveitis that can go along with Ankylosing Spondylitis.  The only thing that is ever remotely positive about having an intellectually disabled child is that they don't know to google their disorders and find out how bad they can get.  I will call the doctor in the morning and she will go through whatever uncomfortable tests she has to go through and probably end the day with another diagnosis. We will just put one foot in front of the other because that's what we do. 

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.

The way it is.

So chronic illness is just that. Chronic. It doesn't go away and becomes a part of everyone it touches. My daughter hasn't been well in years. YEARS. I never thought about any of our kids getting sick and not getting better. Watching disease take over your child's life is a soul sucking experience. There is no way I can be who I was before all this. Sometimes, I walk around with thoughts of how so few things truly matter in anyone's life. I would give up everything I own, my own life, if my daughter could be healthy. That brings me back to the fact that God doesn't play "Let's make a deal". I wish, but then God wouldn't be God.

Two weeks ago she had two good days in a row. Sunday and Monday. Fatigue and pain didn't take over and prevent her from wearing sparkly eyeshadow and going on an outing with her friend. Hallelujah! Those two days were gold star worthy and I'm holding out hope that more of those days will come soon. It's getting harder to hope like that.

Right now, there are stomach troubles which may or may not be caused by an ulcer. It wouldn't surprise me considering the ridiculous cocktail of stomach irritating drugs she has to take on a daily basis. In two weeks she'll see another specialist that may or may not know what they're doing (because that happens a LOT) with someone like her. Who probably has never seen or heard of a kid having so many problems, especially not her problems. Ulcers are common, right? If it is an ulcer. More likely, she probably has some other rare problem going on that will take no less than four doctors and ten months to figure out. That's what I expect because that's how we roll. Too much of her life has been spent in pain while medical science fails her. It's happening at this very moment.

I'm done for now. Autoimmune disease sucks. I'm hormonal and exhausted from watching my girl suffer more than usual the last few nights. The doctor finally decided to refill her pain medication so she is sleeping and I'm going to sleep and read my Bible in the morning and ask God to help us out here. This is the way it is right now.

Maybe medication

We're still not on the right track to helping her feel better. The last month has been one of constant pain and fatigue for her. She had her first infusion of Solumedrol by IV with the hopes of ending this continuous flare. That didn't work. She's been on 40 mg. of Prednisone(along with everything else) for a while now and nothing is getting better for her. Then last week her doctor called and suggested that we have a consult to talk about new medication options. He talked to me on the phone a couple of weeks ago about the next level of medication that he thought we needed to try but because of the risky nature of the side effects he asked me to come in so that we could talk face to face.

Her tiredness had increased quite a bit after the Solumedrol infusion. According to the fact sheet they gave me, it should have ramped her up a little bit if anything. Because they drew blood to test it during the IV procedure, I asked about the results when I arrived for the consult thinking that perhaps she was a little anemic. The doctor didn't order the blood test and didn't know it had been done, so he hadn't checked for results. Something was off in her test. Something called Sed rate. Apparently that Sed rate is an indicator of inflammation in your body. Normal for her would be between 0 and 20. Her Sed.rate is 140. The doctor said that she would have to feel horrible with that kind of inflammation in her body. He had suspected that she has vasculitis somewhere, and this confirmed it for him. So we went from thinking she was really sick to knowing she's really sick. It took away any doubts that she needed to be on a new medicine. One that has some scary side effects that I prefer not to think about, but they are there. Her doctor said that in his whole rheumatology practice that he might have ten kids that are sick enough for him to put on Imuran and she's one of them. Having the test results that leave no doubt that she needs this new medication gave me a little peace about it. It's another example of God's hand guiding us through all this.

My prayer is that this medicine works, and that she might be able to stay on a low enough dose to reap the benefits without the risks. I love this girl. She needs a life of happiness, the Jonas Brothers and frosty eyeshadow. If this is a means to that end then we will be beyond blessed.

Alrighty then

The doctor FINALLY called, apologizing for his terrible phone system. He raised her Prednisone to 40 mg., which is the highest dose she's been on since her Sjogren's diagnosis a year ago. He said that there was a dramatic difference in the body's response when you go from 30 to 40 and thought she should see some improvement in a couple of days. Why then, did he not try this dosage a long time ago? He has admitted that because she is dealing with issues that he doesn't regularly treat that he may not be as aggressive as a rheumatologist that sees adults would be. She'll be seventeen in less than a year and that's the magic number when an adult rheumatologist will see her. Other than his phone system, I have no complaints about her doctor. Pediatric Rheumatologists are in very short supply (would you believe there are 10 states WITHOUT one) so I understand why it's hard to get in touch with him sometimes. Most likely, I'll be scheduling her to see another doctor the day after her seventeenth birthday. We need aggressive.

I finally found the saline gel that the ENT recommended for her nose. Not sure it's helping, but that along with saline spray and a vaporizer in her room will hopefully keep her more comfortable. Her lips have been less chapped since we started keeping her room "moister" and reducing the use of our air conditioning system. The nosebleeds continue but are less frequent. I almost feel like she should live somewhere that was steamy like a green house. We see 100 percent humidity often so I shouldn't complain.

Tonight she's going to a sleepover with her Sunday school class. A little more fun in her life would be a good thing.

Camp Boggy Creek

Haley's rheumatologist handed us an application for us to go to a family weekend at Camp Boggy Creek on her last appointment. I filled it out not knowing just what to expect. When she was accepted to go for the weekend, I was excited but a little apprehensive as well. Camp Boggy Creek provides fun time away for kids/families dealing with some type of chronic illness. It's funded by Paul Newman Charities and other private donors. The weekend we were there for was the Juvenile Rheumatoid Arthritis and other rheumatoid conditions weekend.

For the last month Haley has been feeling pretty bad. Her relapsing polychondritis is flaring again and she's been dealing with a lot of pain. She has a new foot injury that is adding more pain to the mix. Not good. Last week, just before we went, her doctor made some adjustments to her medication that has given her some relief. He wanted her to feel better for Boggy Creek. He warned me that most people that would be there wouldn't know anything about what Haley has yet alone have any of her issues. He said that there would be kids there that had dealt with the horrible side effects from her meds though, and that she would still have fun. He kind of gave me a nice little pep talk.

We arrived on Friday evening and Haley's pals Colin and Dahlia were outside the cabin waiting for her. Dahlia was a psychiatry resident who would have a lot of jobs to do during camp, but would hang out with Haley when she could. Colin was a college senior from Kentucky who's fraternity flew him (and other members) in to volunteer for the weekend. Colin would be with her/us for the whole weekend just to make sure that Haley was comfortable and had whatever would make her happy. Whatever Haley wanted to do, Colin did. I don't know his parents, but they should be so proud of the caring young man they've raised.

From the time we got there, every minute was about the kids and families having fun. There was so much downright silliness that you couldn't help but laugh. A lot. Friday night was dinner, ice breaker activities and a camp fire. Saturday was full of activities, including time when Colin took the kids to do whatever they did while John and I went to a time for just the parents. This was the only time when there was talk of conditions, medications and the hardships of having a sick child. They separated the men from the women for this time. We thought that the boys would talk for about ten minutes then watch football. John said they talked the whole time. Not sure what went on there. As for my time with the women, it was really good. We cried for each other's children and for our own. There was something very special about that time and I was really blessed by it. These were all moms of kids that lived with pain too much of the time. There's a part of you that can't be okay when they are hurting and those women were right there with me. I didn't count on having that kind of experience and it was really a blessing.

After dinner Saturday night Haley was really in pain and wanted to put her pajamas on at 7:30. I had given her everything I could for pain at that point and knew that she needed to go home and to her bed. She was positively drained and had that look on her face that a mom just knows isn't good. We had to leave camp early. I was crying as they hugged me and told me that they understood. They drove me to pick up my car and I was still crying. I want my girl to be well and she isn't. It was so disappointing that we needed to go. Then I started to look through the photos that we took from just that day. She did more fun stuff in one day than we've done in a long time. She did have the best day, she laughed lots and really enjoyed herself. God really gave me peace in that moment. Maybe we can't do so much at once, but we need to do more to enjoy life, even if it's at a little slower pace. That's the biggest lesson I learned this weekend.