Tuesday, November 4, 2014

Where to post

So I was trying to decide where to post the various updates. Facebook doesn't seem quite right, but I don't feel like we need a Caring Bridge page. I decided to use my long abandoned blog. Might as well. 

November 4, 2014

Josiah had his appointment at Duke yesterday. For the most part, it wasn’t much different from any of the other appointments lately. They had Josiah do a variety of things to get an idea of his muscle strength, and we gave them a full history. Like the rest of the appointments, the doctors agree that he presents with muscular dystrophy, most likely Duchenne’s. The next step is genetics testing to verify. In my earlier post I mentioned that we were going to see a geneticist in October; however, that appointment was cancelled due to the referral to Duke. It was a long, emotional day. They drew blood and sent off for the tests. Basically, they will do test #1, which has the highest result rate. If that test does not show anything, they will move on to test #2. If needed, on to test #3. All of that to say, it just depends on the results as to how long until we have a definitive diagnosis; hopefully within a month or two.

The doctor wants Josiah to see their pulmonologist for a baseline pulmonary test. He also wants him to see their physical therapist at least once for a full evaluation, then, hopefully, we can get him into a PT locally. He has been on waiting lists at two clinics here for months.

I think that today, the reality of having had an appointment at Duke is setting in. Duke is where you go when something is really wrong. Something your local doctor and hospital don’t handle. Something bigger than the large teaching hospital in your area, with a wonderful children’s hospital, handles. Something big. Honestly, I don’t want to do this. I don’t want to know. You hear about people who know they are sick, but don’t want to go to the doctor because they don’t want to know. That always seemed understandable, but also silly. Of course you should go, because the sooner you know, the sooner you can start treatment, etc, even if it’s scary. Well, you know what-- as much as I want the genetic testing, I am ok with waiting a while for the results. Because every step takes us closer to having to fully embrace this new reality, and this reality hurts. A lot. And this diagnosis does not have any treatment. No hope for remission. No hope for improvement. Just a steady decline. And at this moment, I am broken.

2 Corinthians 4
Verses 8-9  We are hard-pressed on every side, yet not crushed; we are perplexed, but not in despair; persecuted, but not forsaken; struck down, but not destroyed;

Verses 16-18    Therefore we do not lose heart. Even though our outward man is perishing, yet the inward man is being renewed day by day. For this light momentary affliction is preparing for us an eternal weight of glory beyond all comparison, while we do not look at the things which are seen, but at the things which are not seen. For the things which are seen are temporary, but the things which are not seen are eternal. 


Posted on Facebook October 6, 2014 

Josiah has always been delayed. He didn’t walk until 18 months, never ran, couldn’t jump, speech delays, etc. By the time he was 2, we started to notice that his younger (by 16 months) brother was catching up to and passing him, particularly with speech. So, when Josiah was 2½ he started speech therapy. At that time, he used single words only; he wasn’t saying two and three word phrases. He continued speech therapy, and when he was 4, also started to receive PT and OT. This continued until he was 6½. At that point, he started kindergarten at a wonderful school for kids with learning delays/disabilities of all kinds, and we took a break from therapies to see how he adjusted to school, what he still needed, etc. Also, that year public schools stopped offering non- enrolled students all the services he had been receiving.

Near the end of his kindergarten year, we decided to have some testing done to see if he fell on the autism spectrum, had a sensory processing disorder, etc. The outcome of that testing was basically that he was not autistic, but had a variety of different delays/disorders – most significantly with speech (cognitive). Earlier this year Josiah started seeing one of the best therapists in the area for his type of therapy needs. The speech therapist is on the second floor and Josiah had a noticeably difficult time climbing the stairs. He had not had to climb stairs on a regular basis in two years, and we assumed it was the lack of PT, so we started looking for a PT.

This next part is full of details; I’m including those for two reasons
1. When I started looking for information to compare to our situation, I was so thankful for the bloggers who had put info out there.
2. The way so much of this fell into place, with the timing of appointments, referrals to doctors, etc, can only be God’s hand moving on our behalf.

While visiting family in Texas, my mom commented over and over on how much he was struggling and how concerned she was. I assured her that I had noticed and was trying to get him in to a physical therapist. The day we left to go home, she went back to work and was sharing with her boss (a dermatologist), how our visit had gone, and that led to her sharing her concerns for Josiah. After sharing some of the examples of his movements, the doctor mentioned she had a friend who was a pediatric geneticist and she would contact her and see what she thought. She also shared that her father’s main field of study and teaching had been muscles, and she had done a paper on it back in school. She specifically remembered the Gower’s maneuver. The geneticist replied right away that Josiah should have further testing done because he could have muscular dystrophy – Duchennes or Beckers. My mom started looking that up and was floored at how much the descriptions matched Josiah. That was on a Tuesday.

Wednesday night my mom shared this information with me. I spent the rest of the night researching and crying, because the symptoms of MD did match up with Josiah. He got up using the Gower’s maneuver, had always had large calf muscles, had the learning disabilities that 1/3 of DuchenneMD patients have. I read about how boys with DMD (Duchenne MD) are in wheelchairs by age 12, how they often end up with scoliosis and may require surgery, that the only “treatment” is corticosteroids, which only slows the progress,  how the MD eventually affects their heart and lungs, with a life expectancy of mid to late 20s. Becker MD is similar to Duchenne with the main difference being that it progresses slower. Duchenne is normally diagnosed earlier, but in some cases, especially in those with the learning disability factor, it can be overlooked until later.

Bennett and I were devastated; surely Josiah didn’t have that. It was too awful to consider.

The next morning (Thursday), I called the pediatricians office as soon as they opened. I told the receptionist that I was concerned Josiah might have muscular dystrophy. The doctor did not have any open appointments, but they put me on hold while they checked with the doctor. They said the doctor would call me later that afternoon, and scheduled an appointment for the next week.  About an hour later, the doctor’s office called back because there had been a cancellation for that very afternoon. The doctor’s observation was that there was some muscle weakness, but she would need to refer us to a pediatric geneticist. She said she could run some blood work, but if it wasn’t what the geneticist needed…she didn’t want us to pay for an unhelpful test. However, she had a good friend from college who was a… pediatric geneticist. What are the odds? She said she would call her and get some additional feedback. An hour later I had a call from the nurse that the doctor had spoken with her friend and had ordered the lab work. Josiah and I went that same afternoon and had his blood drawn.

By Friday morning, the doctor had some of the results back. The main one being that Josiah’s CK (creatine kinase) level was 7,000. Normal is less than 500. A high CK level means there is muscle damage. She stated she wanted to refer him to a pediatric neurologist, pediatric geneticist, and a cardiologist for a heart echo (to get a baseline and verify his heart was functioning normally). Friday evening I saw some good friends. When I was updating them, they asked which pediatric neurologist we were being referred to. It was the same neurologist their son had seen.

The heart echo was scheduled, the neurologist referral was sent, and calls were made to the various pediatric geneticists across the state. Unfortunately, the next appointments at Duke, UNC Chapel Hill, Charlotte, and Wake Forest were a minimum of 8-9 months away. We decided to make the appointment with a doctor that my sister in law’s friend had taken her daughter to at Wake/Baptist. When the pediatrician’s office called to make the appointment… there was a cancellation and our appointment was scheduled for October 16th – only two months away.

At the neurologist appointment, he verified that we were on the right track. He stated that Josiah presented with MD, which could be either Duchenne or Becker. I inquired about what would happen if the genetic testing did verify MD; he said he would then refer us to an MDA clinic, probably the one at Duke. He said that at some point, Josiah would need to see an orthopedist. He also recommended Josiah see a cardiologist for an EKG. This would be helpful to have already done when going to the MDA clinic.

The pediatrician set up the EKG, and when we went, it was at a Duke Children’s office (we live about an hour and a half from Duke). His EKG was normal. After the test and some observation, the cardiologist shared that he also agreed that Josiah did have muscular dystrophy. He requested to go ahead and refer him to the Duke MDA clinic now; as in his experience, children needing a diagnosis were given some priority over those already with a diagnosis.

So that’s where we are now. All the doctors and tests agree that Josiah presents with muscular dystrophy. They geneticist appointment is next week. We understand that the test results take 2-3 weeks, and that in 1/3 of MD cases, there are no genetic markers. If that is the case, then the next step would be a muscle biopsy.

The cardiologist office is working on the referral to the MDA clinic. We have been told that could very likely be scheduled for 8+ months out, but that would also get us on the cancellation list for a sooner appointment if one becomes available.

All of this is very clinical, I know. If I have to write how we are feeling… we are ok, not ok, glad Josiah can still walk and play, sad, scared, depressed, hopeful, hopeless, and on and on. Some days you realize that he isn’t that much different than yesterday and you don’t think about MD. Other days he falls and you remember that he never used to fall as often, and that eventually, this disease will take the use of his legs and arms and eventually him.

Most of his life,  we  have known that he was different: he didn’t comprehend or express things the way most people do, he couldn’t get around as easily, things were more difficult for him, he didn’t play with other kids the way his brother and sister did. We had somewhat come to terms with some of those realities. This new reality…I don’t know.

What have we told the other kids? Mainly that Josiah’s muscles are getting weaker and we are trying to find out why. My ever inquisitive and always thinking daughter (11yr) took it to the next level, asking “will Josiah’s muscles eventually get so weak that he won’t be able to walk?” I told her we didn’t know and that is why we were going to the different appointments. If the diagnosis comes back as DMD or even BMD, this will all too soon become reality for them as well.

Two of my favorite songs, especially during difficult times are Lead Me To The Rock (Maranatha! Praise Band version) and Blessed Be Your Name by Matt Redman

When my heart is overwhelmed
    Lead me to the Rock that is higher than I
You have been a strong tower, in a time of tribulation
    Lead me to the Rock that is higher than I

And I will abide under the shelter of your wings
Hide in your care, when evil surrounds
I will call your name, when I can’t find direction
You’re the only One in whom I can trust

Blessed be Your name
When I’m found in the desert place
Though I walk in the wilderness
Blessed be Your name

Blessed be Your name
On the road marked with suffering
Thought there’s pain in the offering
Blessed be Your name

We appreciate all of your prayers and support and will update once we have something to update…
If you would like to read more about muscular dystrophy, here are a few links