Orthotics

Last week Josiah and I went to Duke to pick up his orthotics. He will wear these at night. The purpose is to keep the heel cord stretched and hopefully, help Josiah be mobile a while longer. Our PT at Duke is so sweet. She went over how to put the braces on, and then we talked about wheelchairs. When we walk for longer distances, Josiah needs a stroller, but he has outgrown most of your standard strollers. The options from there are a push chair (special needs stroller) or a wheelchair. The PT's opinion was that overall, a lightweight, manual wheelchair would be the best option for Josiah at this point. Sometimes he asks to take his stroller to school, and more recently he asked about getting a rolling walker to use at school so that people wouldn't bump into him. More about wheelchairs in another post.

So Wednesday night we put on the braces, and Josiah went to sleep no problem. At midnight he woke up sobbing, saying they hurt. I took them off, and he went right back to sleep. Apparently that was the straw that broke the proverbial camel's back. I cried longer and harder than I have cried since that week back in August . It was a reminder of the difficulty he, and by proxy, the rest of us will be going through. A reminder that "normal" has gone by the wayside. That my sweet boy will have to endure through this trial. That we can do nothing to change that.

NYC

Our family had a great time on our spring break trip to NYC with a stop in DC on the way back. Josiah had been talking about seeing the Statue of Liberty, so off we went. We went with our friends, the Wilsons, and had an amazing time!

My FitBit says we walked a total of 35 miles while we were away. The kids were troopers! We took a stroller for Josiah and looked for as many elevators and escalators as we could. The rest of the time we had a system down where I carried Josiah on my back and Bennett (with help from Bert or Chandler) brought the stroller up and down the stairs. We went hard every day, stayed out late, and loved every minute. We hit pretty much everything on our list: Statue of Liberty, FAO Schwartz, Toys R Us, Time Square, Midtown Comics, Meatball Shop, Doughnut Plant, Shake Shack, NY Pizza,  Central Park, Billy Johnson Playground, Lego Store, St Patricks Cathedral, M&M Store, Grand Central Station, Museum of Natural History, Chinatown, 9/11 area, St Pauls Cathedral, and a Yankees game.

...

Jog For Josiah

As many of you know, our son, Josiah, was recently diagnosed with Duchenne Muscular Dystrophy. This diagnosis has brought with it all of the emotions you would imagine, and we are continually grateful for all of the love and support we receive from all of you. 

Duchenne is the most common fatal genetic disorder among children. To date, there is no cure or treatment to stop the progression of Duchenne. Those with Duchenne are truly in a race against time as their muscles deteriorate further each day. It is almost impossible to imagine that in just a few years, Josiah will need a wheelchair to get around, and even more impossible to imagine the stages past that. Most of the time, I push away those thoughts because they are just too painful. Already we see the changes (weight gain) brough on by prednisone, the only medical option for Duchenne - it's only purpose to try and slow the progression. 

On Friday, April 24th, his school, The Piedmont School in High Point, NC, will be hosting a run in his honor as part of their field day.  Our family will be participating in the Jog for Josiah which will include running several laps around his school for approximately an hour. The students are raising support on a per lap basis, and if you wouild like to partner with us, any financial donation to help Parent Project MD lead the fight to end Duchenne would be appreciated. Click on the link below and on the site, you will see a "Donate" button.

If you prefer, you may also mail a check, made payable to Parent Project Muscular Dystrophy, to:
Parent Project Muscular Dystrophy
401 Hackensack Avenue, 9th Floor
Hackensack, NJ 07601

(Please note that the check is in honor of Josiah Deese/Jog For Josiah)

All funds raised will benefit Parent Project Muscular Dystrophy and go directly toward researching a cure. Your contribution is 100% tax deductible.
Thank you for your support of Jog for Josiah to benefit Run For Our Sons and Parent Project Muscular Dystrophy. 

Bennett and Kara Deese and family

http://www.parentprojectmd.org/goto/jogforjosiah

More Doctor's Appointments

This past Friday we had a round of doctor's appointments at Duke. The day started with a PT appointment. They checked the flexibility/range of motion of his legs, and they made casts/molds of his feet and calves. Those molds will be used to make is night braces, which will help keep his heel cord and connecting muscles from contracting at night. Josiah was able to pick out his design and colors; no surprise that he chose Spiderman. The therapist recommended that his PT work with him in a pool. If that isn't an option, they said we should take him to the pool twice a week.

Next it was on to pulmonolgy and cardiology. This was our first round of appointments with these specialist at Duke. Josiah had a pulmunary function test that, in general, was fine. He had some difficulty with the mechanics of blowing out forcefully. It was similar to how you might blow on a kazoo; he just couldn't quite get it which caused his numbers for that part to skew lower. For cardiology he had an EKG and a heart echo (both normal).

It was a long day. About 5.5 hours from the first appointment to the last, but he was a trooper. All of the doctors were so nice and really good with Josiah. We are thankful to have these resources not too far away. We will go back every year for our MDA clinic day and have the same tests run each time. His braces should be in within about 5 weeks.

He has been on prednisone for about 5 weeks now. We have noticed a slight increase in agitation, but so far, very manageable. Within the past few weeks, you can see the puffiness creeping into his face. I know it isn't the worst thing ever, but it is a reminder...

All in all, life continues on fairly normally. Bennett and I have our moments, but we are managing. Thank you all so much for your messages and kind words. We are so grateful for the support and prayers.

Josiah has been on his 21mg dose of prednisone for 3 weeks now. For the most part, no real changes in behavior; maybe a slight increase in frustration at school, but overall, pretty normal. We are so thankful for this and pray he continues to be fairly side effect free. It was difficult for me to start him on the medicine. I know that changes are coming in the future, but the thought of my little boy experiencing some drastic mood/appearance changes now was a hurdle I had to face. I have seen pictures of families with a boy with Duchenne's. It is very apparent; but even these changes don't happen overnight, and if this medicine can help him have an extra two or three years of mobility and delay scoliosis concerns, we'll deal with the changes when they come. Josiah has been amazing with taking his medicine. We told him it wouldn't taste very good, but that he needed it to help his muscles. He takes it every morning without complaint, and even reminds me to give it to him. 

We have a few upcoming appointments at Duke. February 20th we go so that Josiah can be fitted with nighttime orthotic braces. These will help keep his heel cord from contracting at night; for boys with Duchenne, that contracting can cause increased difficulty with walking. That same day he will also see a pulmonologist for a pulmonary function test, and we will meet the cardiologist (Josiah has already had the cardiology tests). These appointments are for a baseline function level, and then every year they will test his heart and lungs and note any changes. 

In March we go back to follow up with the neurologist. At this time, I dont' see any real changes to the "plan". In the event there are any drug trials that Josiah might qualify for, a standard requirement is 6 months on prednisone, so we have a bit longer before that comes up. He will continue with speech therapy for his cognitive delays, and he is next on the wait list at a local physical therapy office. 

All in all, life is pretty normal. Bennett and I have our times and our thoughts and our quiet fears, but mostly we try to just be thankful that today Josiah is here and he can walk; that Chandler and Garrison are also happy and healthy; that we are together.

Results

We received the results of Josiah's genetic testing between Christmas and New Year's Day. While it wasn't what we had hoped for, it was what God has been preparing us for.

Josiah tested positive for a mutation in the DMD (dystrophin) gene. He has a splice site mutation that results in exon 70 being skipped and exon 69 being spliced. This is one of the rarer mutations; less than 10% of all mutations occur between exon 64 and 70. This area (64-70) is essential for protein function, and because of that, the exon skipping drugs being tested now would not apply to Josiah. I found this site to be helpful in explaining some of this: Duchenne and exon skipping as treatment

Because this is a rare mutation, the possibility of it being hereditary is slim. I will have to be tested to be sure that I am  not a carrier (only women are carriers).

The only "treatment" is prednisone, to help maintain muscle strength as long as possible. Like most medications, prednisone is not without side effects. Please pray with us that these will be minor for Josiah. He should be starting the medication this coming week.

I'm sure you understand that I cannot begin to convey how we are feeling. The tears come and go. "Normal" comes and goes. I read a book back in November- Book of Kehls by Christine Kehl O'Hagan. It is her story of having a brother and then a son with Duchenne's. It was difficult to read, but it also helped me attempt to process and come to terms with where we are now. I looked her up and sent her an email after I read it, to let her know how much her book meant to me. She replied almost immediately, and it meant so much that she took the time to reach out to a stranger. A few things she said were,

"Although it may seem like the world is coming to an end - I promise you - it isn't....

Hard as it is to believe, DMD will become just another part of your life - and not your entire life.."

I have referred back to her email often in these past months. I strongly recommend her book if you are inclined to read it. I found it at my local library.

I took the kids to the trampoline park on New Year's Day. Josiah was jumping and I thought, "I should get my phone and take some video and pictures...he may not be able to do this next year..." and the tears came. 

 







 Even though I know it's there, it is always a stark reminder when I see in pictures how difficult simple things are for Josiah and how much he looks like the pictures of other children with Duchenne's

I'm thankful for friends who hug me and let me cry. Friends and friends of friends who tell us they are praying for us. Family and friends who we know are always there for us. 

An Irish Prayer In Times of Sorrow

May you see God's light on the path ahead
When the road you walk is dark.
May you always hear,
Even in your hour of sorrow,
The gentle singing of the lark.
When times are hard may hardness
Never turn your heart to stone,
May you always remember
when the shadows fall—
You do not walk alone.

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.