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Permalink Reply by irishgirl on October 15, 2008 at 8:07pm

Hey Tina:

Thanks for all your comments - I really appreciate the time you've spent. I'm glad you seem happy with Dr. Leshner. He, too, is our son's doctor, but I can;t help but say that I find him less than caring and he seems to me to just lump all the kids in together. He is not forthcoming with information regarding trials or new treatments on the horizon unless we ask first. He tried to talk us out of having a biopsy done now - he says we should wait a year or two. But we cannot do that. Our son will be 9 in a month and runs all over the place. Boys that are 9 with DMD do NOT run. While they can still be mobile, they don't run. Liam runs, jumps, never falls down, doesn;t toe walk and had no symptoms prior to age 7.5 - and then it was the gower move only. Dr. Leshner doesn;t seem to care about the fact that Liam is doing so well. He will not look at videos we bring to him and if we wait two years for the biopsy, we will not be prepared for the exon 51 skipping that is just about to come into full force. We need to have our ducks in a row and be ready for the trials when they come he with Dr. Eric Hoffman. We absolutely adore Dr.Hoffman - colleague of Leshner and pioneer of MD. We need to have the needle biopsy - according to Hoffman, all these kids need is a needle biopsy and not the full blown one to find out if they are producing dystrophin. So, we are searching for another doctor because Leshner is just not for our son. He is not aggressive at all. Yes, Escolar was the bees knees, but is not gone. Thanks so much for your information and input.
Noreen

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Permalink Reply by Regina on October 15, 2008 at 9:17pm

Noreen:

My wife and I took our son Jordan to CHOP in August. We saw Dr. Tennekoon. I was very impressed with the team approach that CHOP took. We spent several hours at CHOP meeting with the Physical Therapist, the Dietician and the Genetic Counselor. The Genetic Counselor was actually the most informative person. I would suggest, however, that if you go to CHOP that you see Dr. Finkel. Dr. Finkel seems to be much more in tune with the latest trials, etc.

Jordan is 6 and will be 7 in January. He was not diagnosed until this past March. My wife and I noticed that our son was having difficulty getting up the stairs like our 4 year old daughter. When we had a PT evaluation done, the PT noticed that our son also had a modified gowers but he runs, rides his bike and can jump (although not well). He has a deletion at 8-11. The doctor at CHOP would not do a biopsy even though Jordan is not presenting like a typical boy with DMD. Although the Genetic Counselor did tell my wife that they would do a biopsy if it were for a clinical trial

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Permalink Reply by irishgirl on October 16, 2008 at 6:59am

Thanks Tina:
We actually met with Dr. Hoffman and you are right, he is wonderful. Our son is a prime candidate for Exon 51 skipping because he has deletions of exons 48, 49 and 50. But, if our son is producing dystrophin, he will be unable to get on the trial, but that would be OK because he would have Becker. So, Hoffman gave up hope on both spectrum ends. We all toured the lab and were very impressed. My fear is this: I will miss something and Dr. Leshner will not tell us - even though he is brilliant. It was Dr. Hoffman who told us about a longevity study that Liam should be on - not Dr. Leshner - who is running the thing in the first place. I just don't get him and I don't think he's got the best interest of our child in mind, He is very over worked. Children's in DC is about to hire a new neurologist, but they may be more in the research side and Dr. Hoffman did just hire a brilliant genetic scientist from Hammersmith in London. And at Hammersmith, they are already into Phase 2 trials of exon 51 skipping. I'm just so afraid that something will be missed that could help. Do you understand where I'm coming from?
Thanks so much for your comments.
Noreen

Tina said:

Noreen,

It's okay to get a second opinion when it comes to health care for your family. See how it worked out for us? I agree, it's hard getting information out of Dr. Leshner, only making me feel more anxious leaving our visits. His style is different, that's all. He doesn't want to give parents false hopes in the clinic. I can't tell you how many times I have been down that road from previous clinic appointments over the past 4 years. The rollercoaster rides I have experienced have been mentally exhausting yet it is very difficult to sit back and relax and trust that these specialist are staying on top of everything. I have found that I have been my son's greatest advocate when it comes to his healthcare. And, I am embarrassed to report that I spend a tremendous amount of time reading research because I cannot expect these specialist to know about everything going on in this field.

I too have an immense amount of respect for Dr. Hoffman. He is orchestrating an incredible amount at this time. I heard he works endless hours both day and night, weekdays and weekends pushing exon skipping forward as quickly and safely as possible. Rumor has it he is trying to get another clinician on board to help out with the upcoming clinical trials. Maybe you can email Dr. Hoffman ( do you have his email address?) with your concerns about the biopsy and ask him about the status of a new clinician. I'm thinking with your son's deletion type, you may want to keep him attending the clinics at CNMC.

I'm delighted to hear your son is doing so well at his age. Take care.

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Permalink Reply by irishgirl on October 16, 2008 at 9:38am

Tina:
Yes, it does help so much. Hoffman things the trials for exon 51 skipping will be here in less than two years. Already being done in London. Hoffman said the FDA will give approval and has already sent him a letter saying so. He just has to get the dose right so that it's not toxic. I hope for that or for Becker. Leshner is so hurry up and wait. We are actually going to see this this afternoon and I will let you know how it goes. I hear that Dr. Escolar was wonderful and ready to charge ahead.
So, Tina - I send you many thanks. Can you tell me more about your son, how you figured it out and his mutation??? I would like to hear your story.
Thanks,
Noreen

Tina said:

Noreen,

I totally get where you are coming from. I'm constantly turning over every rock to make sure I'm not missing anything for our son, too. To my knowledge, there isn't anything going on other than PTC-124 for our boys at the moment. No losartan trials, no utrophin trials, no BBIC, no idebenone trials, etc. These are drugs that could potentially help our boys and would be the drugs I would be focused on if my son had a Beckers diagnosis. So, I'm not sure what else you're missing out on "out there." I hope saying this makes you feel less anxious.
What was Dr. Leshner's reasoning behind waiting another year or two for the muscle biopsy? Perhaps exon clinical trials won't come into play until then? Huh?
Dr. Hoffman is trying to recruit a pulmonologist and a clinician from another site ( in the US) to assist with clinical trials. Dr. Leshner was responsible for the care of the older boys and Dr. Escolar assessed the younger ones. Now, he is doing double the work until help arrives.

Again, my best to you and your family. Things have a way of getting sorted out eventually. Take care.

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Permalink Reply by Luis Cordero on January 21, 2009 at 9:50am

Tina said:

Noreen,

I totally get where you are coming from. I'm constantly turning over every rock to make sure I'm not missing anything for our son, too. To my knowledge, there isn't anything going on other than PTC-124 for our boys at the moment. No losartan trials, no utrophin trials, no BBIC, no idebenone trials, etc. These are drugs that could potentially help our boys and would be the drugs I would be focused on if my son had a Beckers diagnosis. So, I'm not sure what else you're missing out on "out there." I hope saying this makes you feel less anxious.
What was Dr. Leshner's reasoning behind waiting another year or two for the muscle biopsy? Perhaps exon clinical trials won't come into play until then? Huh?
Dr. Hoffman is trying to recruit a pulmonologist and a clinician from another site ( in the US) to assist with clinical trials. Dr. Leshner was responsible for the care of the older boys and Dr. Escolar assessed the younger ones. Now, he is doing double the work until help arrives.

Again, my best to you and your family. Things have a way of getting sorted out eventually. Take care.

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Permalink Reply by Luis Cordero on January 21, 2009 at 9:51am

Luis Cordero said:

Tina said:

Noreen,

I totally get where you are coming from. I'm constantly turning over every rock to make sure I'm not missing anything for our son, too. To my knowledge, there isn't anything going on other than PTC-124 for our boys at the moment. No losartan trials, no utrophin trials, no BBIC, no idebenone trials, etc. These are drugs that could potentially help our boys and would be the drugs I would be focused on if my son had a Beckers diagnosis. So, I'm not sure what else you're missing out on "out there." I hope saying this makes you feel less anxious.
What was Dr. Leshner's reasoning behind waiting another year or two for the muscle biopsy? Perhaps exon clinical trials won't come into play until then? Huh?
Dr. Hoffman is trying to recruit a pulmonologist and a clinician from another site ( in the US) to assist with clinical trials. Dr. Leshner was responsible for the care of the older boys and Dr. Escolar assessed the younger ones. Now, he is doing double the work until help arrives.

Again, my best to you and your family. Things have a way of getting sorted out eventually. Take care.

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Permalink Reply by irishgirl on January 21, 2009 at 12:36pm

Thank you Luis!!!
We actually see Leshner tomorrow. We all wish Escolar were still here - she had that fighting spirit. Unfortunately, the PTC-124 is not for deletions like our son - that is why we eagerly await the exon 51 skipping as it's exactly what we need. Hoffam got a letter from the FDA saying move ahead. England is already have great results with the skipping 51 with their boys - Hoffman thinks it will be here this year and I just want to be ready and to have all our ducks in a row before it begins. Leshner just drives me crazy. Our son, who is 9, went skiing for the first time yesterday and did pretty well. We just have to figure out if it's DMD or BMD. If DMD, we got skipping coming down. If BMD, well I'll take that over DMD any day of the week.
How is your son doing, how old is he? WHere are you all located?
Thanks again for your words, they mean quite a bit.
Noreen

Luis Cordero said:

Tina said:

Noreen,

I totally get where you are coming from. I'm constantly turning over every rock to make sure I'm not missing anything for our son, too. To my knowledge, there isn't anything going on other than PTC-124 for our boys at the moment. No losartan trials, no utrophin trials, no BBIC, no idebenone trials, etc. These are drugs that could potentially help our boys and would be the drugs I would be focused on if my son had a Beckers diagnosis. So, I'm not sure what else you're missing out on "out there." I hope saying this makes you feel less anxious.
What was Dr. Leshner's reasoning behind waiting another year or two for the muscle biopsy? Perhaps exon clinical trials won't come into play until then? Huh?
Dr. Hoffman is trying to recruit a pulmonologist and a clinician from another site ( in the US) to assist with clinical trials. Dr. Leshner was responsible for the care of the older boys and Dr. Escolar assessed the younger ones. Now, he is doing double the work until help arrives.

Again, my best to you and your family. Things have a way of getting sorted out eventually. Take care.

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