Wednesday, February 24, 2010

Home!

We had our first MDA clinic yesterday. It was VERY informative! I had my long list of questions, patiently answered by the many doctors we saw. I am encouraged about some things too. I will give a brief breakdown of the appointment.

  • We are now a part of 2 clinical studies that will not necessarily help Ben immediately, but will help future Duchenne children.

Clinical Study #1: United Dystrophinopathy Project
This study will require us to be seen once per year at Nationwide Children's Hospital for a blood draw, physical therapy/muscle testing, and a questionnaire. Doesn't seem too hard :o)

This study will pinpoint precise mutations (changes) in the dystrophin gene and aims to understand how these mutations determine the symptoms and severity of Duchenne and Becker dystrophies. (taken from the MDA website).

Clinical Study #2: Cardiac Myopathy Project

This one will require us to have an echocardiogram yearly (which he has to do anyway) and when he begins to have problems with his heart function, they will give him a drug that will improve function and possibly help the skeletal muscle.

This study will show the relationship between the mutation in the gene and the muscle strength and heart function-and how they change over time.

A double-blind randomized clinical trial of lisinopril versus losartan is proposed. Both drugs are known to be effective for the treatment of dilated cardiomyopathy. ACEi have both delayed the onset and progression of left ventricle dysfunction in children with DMD. (taken from the Nationwide Children's Hospital website).

  • Genetics
We saw a genetic counselor because this is a genetic disorder. Even though we aren't having anymore children, they want to see if I am a carrier of this disease. This disease is always passed from a woman to a son, it is an "X" linked gene. They are doing this for several reasons.

  1. If I am a carrier, this means that I have a 20% chance of displaying muscle weakness and having a heart problem myself. Women who are carriers can have sons born with or without the disease, they can have daughters who are or are not carriers of it.
  2. If I am a carrier, then my sister on my mom's side needs to be tested to see if she is also a carrier. My sister on my dad's side does not have to be tested, because we have different mothers.
  3. My daughters all have to be tested, regardless if I am a carrier or not, because they have a sibling with it. They will be tested when they are ready to have children or are age 25, whichever comes first. If any of them are carriers, they too would have the potential of muscle weakness and/or heart issues. Carriers have their hearts checked beginning at age 25 and will continue every 5 years.
  4. If my test is positive for being a carrier, my daughters have a 50% chance of being a carrier. If my test is negative, they have a less than 10% chance of being a carrier themselves.
  5. Since I have 2 other sons who do NOT have Duchenne, my own chance of being a carrier is one third.
Whew! That was genetics 101.

  • Nutrition stuff
I asked a lot of questions of nutrition, supplements, better food choices, etc. Good nutrition is good for everyone, but, because Ben is on Deflazacort, he has the potential of gaining too much weight. This would obviously make his muscles work harder when they are losing strength. Here is a summary:

  1. We need to limit sodium intake. Fluid retention should be avoided, especially with Deflazacort.
  2. Deflazacort causes weakening of the bones, so I have been giving Ben calcium chews and Danactive (which is also a probiotic) daily. You CAN get too much calcium, so we do need to watch it.
  3. Berries are excellent! Any type of antioxidant are just plain good.
  4. Whole grains good.
  5. I asked about my big Vitamin E question...and got an answer! I am allowed to give him up to 400 mg per day. We will start this today.
  6. Creatine supplements are NOT beneficial. They used to recommend this but do not anymore.
  7. Watch the type of fruit...fruit can have a lot of natural sugar (grapes, bananas). Moderation is key.
So a lot of this stuff we already knew and have been implementing. And it is just plain good healthy eating for THE WHOLE FAMILY!

  • Appointments
  • We will go to MDA clinic every 3-4 months.
  • We will see the cardiologist yearly, until be starts having problems.
  • We saw the respiratory therapist yesterday and his lung function is excellent! Yay Ben!

  • Miscellaneous
I also learned the the high level of the CK test does NOT indicated the severity of the disease-one of my questions. That was a relief. We will start some swimming lessons for physical therapy. I don't have to restrict him from playing with his siblings, which was a concern for me. My boys can play, well, like boys lol.

They also had a representative for MDA come and talk to us and explained to us the benefits of becoming a member of their organization. They help financially with equipment, when the need arises, and they help with clinic appointments. I will be getting their quarterly Quest magazine (which you can also read online). I am already a member of MyMDA on the internet--look for me, my name is lapfam8.

Well, that about sums it up. I am still sorting out some info just because there was SO MUCH. He was pretty tired when we got home, understandably so! Here are a few pics from the day.


Ben was tired here...not too happy to have his pic taken!



This was the respiratory therapist's room. He had to "blow out candles" on the computer screen, he liked this part :o)







Tuesday, February 23, 2010

MDA clinic TOMORROW!

Tomorrow is Ben's first MDA clinic appointment! It was supposed to have been 2 weeks ago, but they canceled due to the weather. I have been looking forward to this appointment for a long time...since his diagnosis on December 29.

Some things that I am looking forward to are asking my numerous questions! I have learned so much in the last 3 months-more than I would have wanted to know really. But I have questions that are specific to Ben. Today is one of those days where I am optimistic, hopeful that the cure for Duchenne is just around the corner. Not every day is like this, I also have my days where I am just sad, frustrated and overwhelmed. I like days like today.

I am so thankful for the community of DMD folks; for sharing their stories, their information, etc. I have learned so much and still have a lot to go! If we continue to come together, our voice for the need for a cure will be stronger and louder. Are you doing your part? Are you making a difference for your son, nephew, cousin, brother? What about future sons, nephews, cousins, or brothers? Let's do our part in making Duchenne a common household name and therefore putting it out there and letting people know that there still IS NOT a cure.

Wednesday, February 17, 2010

Duchenne

I have two main goals of this blog: #1 is pretty simple. I want to keep our family and friends updated about our son, who has Duchenne Muscular Dystrophy.

#2 is to raise awareness of Duchenne. When we were first told at the emergency room about the possibility of Ben having muscular dystrophy, they didn't mention the word "duchenne"; they just said muscular dystrophy. When we got home, around midnight, I googled muscular dystrophy and all kinds of sites came up, but they all talked about varying dystrophies, each with its own set of problems and prognoses. Then I got to one that explained the differences between the 40 different dystrophies, yes FORTY!! There are 9 main ones I guess you could say, but more than 40 all together. The article went on to say that Duchenne is the most common and the most severe. I prayed, Oh Lord, please, if he has to have this, please, don't let it be this one. Well, as you already know, it IS Duchenne.

Everyone needs to know about this horrible disease. It robs our boys of freely running, jumping, climbing trees, riding bikes, and their life. The more people know about it, the more awareness, the more likelihood that there will be a cure in the near future. I want a cure not only for my son, but for other sons as well. For some, it is too late, this disease progresses rapidly. But for others, there is still hope. I believe there is still hope for my son-he has some time on his side...but the effort needs to be NOW.

For those of you who know me in real life, might think I am going a little overboard....but wouldn't you do the same if it was your son?

The Lord is faithful. I will trust Him in whatever comes our way. I am praying that a cure will be found, in time for my son. But if that doesn't happen, i will still trust Him. He has allowed this to happen and I want to glorify him in all that I say and all that I do.

John 9:1-5 says:

1 And as Jesus passed by, he saw a man which was blind from his birth.
2 And his disciples asked him, saying, Master, who did sin, this man, or his parents, that he was born blind? 3 Jesus answered, Neither hath this man sinned, nor his parents: but that the works of God should be made manifest in him. 4 I must work the works of him that sent me, while it is day: the night cometh, when no man can work. 5 As long as I am in the world, I am the light of the world.

Friday, February 12, 2010

Just some info on Duchenne

DUCHENNE MUSCULAR DYSTROPHY
Age of onset: 2 to 6 years
Inheritance / gender affected: X-linked / males
Muscles first affected: Pelvis, upper arms, upper legs
Progression: Slow, sometimes with rapid spurts

DUCHENNE muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. Early signs of Duchenne, which usually occur between the ages of 2 and 6,

Read More:
 Facts about...
  • Duchenne & Becker
  • include frequent falling, difficulty getting up from a sitting or lying position, and a waddling gait. Another hallmark is the apparent enlargement of the calf and sometimes other muscles, which is really due to an accumulation of fat and connective tissue in the muscle. A blood sample shows a very high level of creatine kinase (CK), an enzyme that leaks out of damaged muscle.
    duchenne boys
    In Duchenne muscular dystrophy, posture changes as the child grows.

    Progression varies somewhat from child to child. The use of orthopedic devices and physical therapy can prolong the ability to walk. Frequently, however, a wheelchair will be needed by age 12.

    Mild mental retardation has been noted in some (by no means all) boys with Duchenne dystrophy.

    Breathing becomes affected during the later stages of Duchenne, leading to respiratory infections. These are often successfully treated with antibiotics and respiratory therapy. Severe respiratory and heart problems mark the disease's final stages, usually in the boy's teens or early 20s.

    In 1986, MDA-funded researchers identified the gene that, when defective, is responsible for Duchenne muscular dystrophy. They discovered that the gene's failure to make a working version of the muscle protein dystrophin is the cause of the disease. Most boys with Duchenne have little or no dystrophin in their muscles.

    Further research has shown that dystrophin is attached to other proteins at the edge of muscle fibers and that it probably helps anchor the fibers to connective tissue surrounding them.


    *This was taken from the MDA website.

    Monday, February 8, 2010

    Ben's 6th birthday party!




    My "baby" is 6 now!

    Living and Dying With Muscular Dystrophy - ABC News

    Living and Dying With Muscular Dystrophy - ABC News

    I just came across this article from another Duchenne MD mom I met on Facebook. We need a cure!!

    Snow, snow, and more snow :o(

    We received about 9 inches of snow this past Friday and Saturday, and another round coming tomorrow. I normally like snow but don't like driving in it! Our first clinic appointment is Wednesday and I REALLY don't want to miss it!! I am so thankful we live so close to the MDA clinic at Children's Hospital! I just discovered today that there are only 3 MDA clinics in Ohio...and we are practically down the street from one of them ;o).

    I am still amazed at how many people are affected by Duchenne. I am still meeting people, mostly online, who have sons, brothers, and husbands with it. Yes, you read that right, some men are into their 20's, 30's and 40's with Duchenne!! It is not common, but it still gives me hope!

    Friday, February 5, 2010

    And he runs!

    Today is day 18 on Ben's medicine. Two people (a friend and a neighbor) have told me that they see a difference in Ben and his ability to RUN. I did not provoke these conversations--they came to me and said, wow, I have never seen him run like that! Music to my ears :o) I am so glad we decided to go this route. The only side effects that I have seen so far is in the late afternoon/early evening, he gets a little hyper. It is funny in a way because he is usually so laid back. I know we are still at the beginning of all this and that more side effects could come, but for now-it is good.

    This past Monday, he turned 6! We are having a very special birthday party for him tomorrow, provided people can get here with the 5-8 inches of snow we are expecting today lol.

    Next Wednesday, February 10, we have our very first clinic appointment. I am excited and a little nervous about it. I "met" someone last night on Misty VanderWeele's live tv. Turns out my new friend lives close by-within about an hour and a half or so. We chatted a lot about Duchenne and what I can expect at our first clinic appointment. One of the doctors that Ben will see will be a cardiologist, to do an echocardiogram on his heart. I guess I have this fear that they will see something that isn't good. By God's grace, I will deal with whatever comes.

    Misty has a questionaire that I filled out a few weeks ago. One of the questions I continue to ponder. I don't remember the exact wording, but something to the effect of: "What is more important regarding your son's life? The quantity or quality." At face value, this can be a tricky question! I want both! However, I want what is best for my son, so after a few minutes of deep thought, I chose quality.

    Something else I have discovered in recent weeks- Muscular Dystrophy is a very broad term for many neuro-muscular disorders. I, myself had never known of there being more than 40 different dysrophies, which each having it's own set of problems. Duchenne is the specific form of dystrophy that my son has. Duchenne is 100% fatal, it is genetic, and it is the most common! 1 in 3,500 boys have it! I was blown away when I heard that!

    I guess part of my goal with this blog, aside from keeping family and friends updated about my son, is to raise awareness of DUCHENNE muscular dystrophy. People need to know. I didn't know until I was hit in the face with it. I have been meeting so many great people through this, mothers of sons with DMD, doctors, people with a passion for raising awareness, etc. I want to do my part too.