Cardiologist Email Response

Angela,

Thank you for your email. Regarding your questions, we do not see any evidence that he has early onset DCM. He does not have any irregular rhythms of the right side of the heart. His EKG shows what is called possible right ventricular hypertrophy but this in not seen on his ECHO. In other words, there are no concerns. His Holter was normal. However, given the concerns of the fast heart rate at the last visit and his increasing age, we felt that a cardiac MRI was the right thing to do. The ECHO test has limitations that we can overcome with MRI to give you the best information possible about him.

I understand some of your confusion from the visit. We will make sure to give you more concise and clear information in the future.

Hope this helps

Best regards,
John Lynn Jefferies, M.D., M.P.H.

Clarity

I spoke to Logan's pediatrician this morning asking for clarity of his recent echo cardiogram done on May 10th. She informed me that the report did read normal and it does not state that Logan is in the beginning stages of Dilated Cardiomyopathy. The concern was that his heart was not measuring normal and with the cardiac symptoms that he is having his cardiologist felt the need to investigate his heart further with a cardiac MRI in 6 months. I have not heard back from his cardiologist yet so I am assuming that if his holter test comes back with some abnormalities then Logan will have an MRI done sooner than 6 months.

I'm glad to have the clarity and it does seem at this point there is no need to be alarmed. I'm hoping that if there is something going on the holter test (the 24 hour monitoring device) will show something and we will proceed with the MRI. This will enable Logan to get the appropriate treatment he needs and hopefully prolong the effect of cardiomyopathy.

For Logan to have a cardiac MRI he would need to go under a general anesthetic. There is concern when anyone goes under anesthetic but for DMD boys there is a greater risk. There are only curtain types of medications he is allowed to receive or a number of serious problems could arise. Logan is only able to receive general anesthesia intravenously (through an IV) and not inhaled. Inhaled anesthetic agents have been linked with dangerous reactions in boys with Duchenne. So even having the MRI purposes a concern.

There truly is a lot I need to know with Logan's condition and I hope that I can just remember them all. Please keep Logan in your prayers as we continue through this journey.

Hope

My mom and I took a trip up north to Perrysburg, Ohio for a parent outreach session with CureDuchenne on April 26th. This is were I get my strength. Its companies like Cure Duchenne and Parent Project Muscular Dystrophy (PPMD) who have dedicated their life to finding a treatment that will better the quality of life for our boys. Both CureDuchenne and PPMD were started by mothers who's son or son's were effected by Duchenne MD.

The meeting was very informative on the research that is certainly taking place. I was happy that I was able to make it to the event. It gave me hope, I was able to meet parents that are going through the same journey, and to meet a 40 year old Duchenne man. His name was Tom and he is a very inspiring man. He gave us two words of advice, "Have god in your life and to eat your vegetables."

The information I received that is near to my heart and gives me hope for Logan is in the exon skipping. I have attached a link if your interested in reading:
http://www.muscular-dystrophy.org/about_muscular_dystrophy/research_faqs/612_what_is_exon_skipping_and_how_does_it_work

They are currently working on skipping exon 51. Logan is missing exon 46 which would mean that they would need to skip exon 45. Exon 45 is in line for clinical trial once the drug has been approved for exon 51. This woud be a treatment and not a cure. It would turn his Duchenne MD into a Beckers MD. Beckers MD produces some level of dystrophin as where Duchenne produces none. So turning Logan's condition into a Beckers would give his body the ability to produce some dystrophin and give him a better quality of life.

All we have is hope, These clinical trials give me hope that Logan will be have a good quality of life.

Medical update

Wow, it's been a while. It seems like a lot has happened since my last update. I finally got all of my paperwork in so I can give an update. Logan had his follow up appointment with Dr. Irina Rybalsky on April 3rd and had a new patient cardio appointment on May 10th. I will be talking about these two appointments and my carriers clinic appointment I had on May 16th.

May has been an overwhelming and worrisome month. There was a two week period where my mind just ran with worry and fear. Dealing with our journey is a lot to think about. It's hard waking up everyday knowing that someday your child is going to have struggles that your powerless over and will just have to sit back and watch. I really think it would be nice if I had a switch that I could just flip and my brain would shut down. I grin right now because just saying those words sounds so relieving.

Logan's follow-up appointment with Dr. Rybalsky on April 3rd went well. For the most part we received positive feedback. His CPK test came back at 25,005 (normal range 75-215). Just in case you don't remember the CPK test is a blood draw that shows the level of muscle wasting and will fluctuate with activity. His current CPK level is not the highest it's been but also not the lowest. The rest of the blood work came back normal except for his calcium level which was low at 8.7 (normal 9.0-10.1). All of Logan's timed tests have improved since his last follow-up appointment. This shows that his daily dose of steroid is doing its job. I have noticed some positive effects with some of his physical capabilities since he has started the steroid. He is able to hop a little higher and if he is taking a running start man can he jump. It's really cute watching him because he gets great joy and happiness from being able to jump. It is written all in the smile on his face. The only new struggles that have come from this follow-up appointment is Logan is beginning to have some tightness in his arms and is in the beginning stages of osteoporosis. The plan for Logan is to continue the daily steroid, vitamin D3, and multivitamin. He will also be starting a supplement called CoQ10 to help with his energy level. We have added more dairy to his diet in order to naturally get his calcium level up. We will continue with Logan's daily stretches and he will continue to wear his night braces. The osteoporosis will be monitored, it's not severe enough where they would like to start him on a medication. Then we will follow-up in 6 months.

On May 10th Logan had an echo cardiogram, a EKG, and his new patient visit with cardiology. This appointment was stressful. I left feeling sad and scared. The echo cardiogram came back showing a rounded left ventricle. We were told the heart should be in the shape of a bullet and Logan's is rounded on the left side. The doctor we seen drew a picture of what Logan's heart looked like from the echo. My thought to her drawing was, "Wow, that's big." We were told that what they are seeing from his echo is normally not seen in Duchenne boys this early (referring to his age). The EKG came back showing an irregular heart rhythm on the right side of his heart. The plan leaving this appointment was Logan to be placed on a holter device to monitor his heart for 24 hours and to see Logan back in 6 months to have a cardiac MRI. We have not received the results back from the holter device. It takes about 3 weeks to get the results back. I'm anxious to see what this test brings back. When I got home from this appointment I started researching trying to find information on what is going on with Logan and what they were talking about. The cardiac disease that runs in Duchenne boys is called Dilated Cardiomyopathy. This is were the left ventricle becomes enlarged and weakens the heart (cardiac) muscle, preventing it from pumping blood efficiently. If you are interested in reading about the disease you can click on this link for more information:
 http://www.parentprojectmd.org/site/PageServer?pagename=Advance_funding_programs_cardiac

On May 16th I had a cardiac MRI and my carriers clinic appointment with cardiology. All of my tests came back normal. I was extremely relieved. I was really worried after hearing about Logan. I thought for sure my heart would be effected as well since we are missing the same exon 46. Then I would be put on cardio medication which in return would put bruises all over my body. This appointment was a pretty relieving appointment. I was able to see Dr. Jefferies. He was not there for Logan's appointment on May 10th so I asked him questions regarding Logan's test results and he told me at this point he thinks everything is good and we should not be worrying. How confusing, right? I left feeling relief but today I still feel confused on the mixed information. So I have emailed Dr. Jefferies asking him this:

We spoke last week when I was in for the carrier’s clinic about Logan Behrend DOB 5/31/06. I wanted to ask this specific question so that I had a clear answer on what is going on with Logan. Is he in the beginning stages of Dilated Cardiomyopathy? We discussed at this point I do not need to worry and you think that he is good. At our initial appointment on May 10th I was told that what was seen on the Echo cardiogram is not seen in DMD boys this early. I was told what they saw was a rounded left ventricle (not bullet shaped). The doctor drew a picture on the board for us of what the image looked like and she drew it in a way that showed the left ventricle enlarged. After doing some research on Dilated Cardiomyopathy, what we were told at our initial appointment sounds like Logan may be showing signs of the Dilated Cardiomyopathy. I’m still feeling a little confused on the mixed information and would like some clarity. We were also told at our initial appointment that boys with DMD are normally seen every year but with what they are seeing with Logan he would need to be seen every 6 months. Which to me says red flag. I’m anxious to hear back about the holter test. If that comes back showing abnormalities will we do the MRI sooner than in 6 months?

 And what about the EKG which showed that the right side had some irregular heart rhythm? Any information regarding that?

 Thanks a lot for your help and time to answer the questions that I have and for me to get clarity. I really am one that likes to have information straight forward. I really like to hear things just the way it is. So any information would be really great.

 Thanks,

Angela

I'm still waiting on a response from Dr. Jefferies once I recieve a response I will be sure to update. Please continue to keep Logan and our family in your prayers. We sure need all the hope we can get.