Hello everyone-My name is Gerardine.I live in Ireland.My sister's young son ,aged 21mths,was recently diagnosed with Duchennes.I need help understanding this disease and also informed advice from all of you wonderful parents.Please light my path so i can be of better support to both her,her husband and their four young children.For now they do not use computer media and will not appear here----maybe with time that will change.But if i can learn and understand then perhaps i will be of better assistance to them than i am now.I am unsure of what the future holds and feel lost in jargon,facts and figures.All i know is i look into the beautiful blue eyes of my nephew and melt-----if i could trade places with him i would.His innocence and trust i want to save forever.It is overwhelming and i feel inadequate,lost and useless.I read all the messages posted and sometimes feel like an intruder but only you know the pain behind the smiles and the hope that burns within the heart of a parent,aunt,uncle,grandparent,sibling and friend.At the moment i only visit here periodically.The emotional turmoil taking time to adjust to.I would love to be accepted as a friend by some of you and would value any advice you can offer.Maybe i am writting in the wrong space-----i am new to this.But just to have a safe place to read and feel included just now----it is like my compass has stopped working and the nightmare of the unknown is clouding my mind.Does that make any sense?Thank you for reading this.If you reply to this and i'm late replying i appologise in advance.I hope the new year is kind to all of you,

yours in good faith,

Gerardine.

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Hi Gerardine,

    First I must say that your sister is very lucky to have such an incredible sister. I can tell you that you are already helping your sister by informing yourself and in turn taking some of her burden, because some things that you read on the internet can be terrifying especially at the beginning.  I could not even get on the computer to search for a good couple of months and I was blessed to have my mother take that burden for me.  Also I would suggest looking into the Duchenne conference put on by PPMD.  I know they hold one here in the U.S. but I would contact them and see what they have near you.  The conference was amazing and vey informative. I know how scary it is right now, but it will get better and just enjoy every moment together.  If you have any questions or concerns please feel free to ask.

Sadie

Gerardine, 

 

My son was diagnosed a little over a year ago, and since that time, I have taken great solace in the many promising avenues of research - I would encourage you to cruise around the Research discussion and see what's been talked about over the past year - there is a lot to hope for.  Educate yourself and your sister...then see if you can encourage them to become involved in some fundraising efforts to support that research.  It feels good to do something!



Sadie Anderson said:

Hi Gerardine,

    First I must say that your sister is very lucky to have such an incredible sister. I can tell you that you are already helping your sister by informing yourself and in turn taking some of her burden, because some things that you read on the internet can be terrifying especially at the beginning.  I could not even get on the computer to search for a good couple of months and I was blessed to have my mother take that burden for me.  Also I would suggest looking into the Duchenne conference put on by PPMD.  I know they hold one here in the U.S. but I would contact them and see what they have near you.  The conference was amazing and vey informative. I know how scary it is right now, but it will get better and just enjoy every moment together.  If you have any questions or concerns please feel free to ask.

Sadie

To Sadie,Thank you for replying to my post.I am trying my best to focus ahead but at same time not too far ahead--living in the here and now i think a good option for the moment.Learning here at my own pace can only be a good thing.And to everyone here ----thank you for the generosity of spirit and hand of friendship.The new year brings challenges to everyone but i also see positivity and good that will come our way too.I will pop in and out of here periodically and build up my knowledge as best i can,with all of your help.Hope you and your family are well and enjoying the gift of life we all have.

Yours,Gerardine.

Hello Steve,

My computer acting up a bit at moment so my replies going a bit funny!

Thank you for replying.I hope your son is doing well and know the shock must have been overwhelming.We got the news very recently and it is very raw at the moment.But like all aspects of life,one has to get back up and move forward.....our children depend on us.That saying...i would die for my children.....the amount of mental bargaining one does with God or whatever Deity one believes in....after a while a person realises that doesn't work and the only thing that does is knowledge and support.Research aspects i honestly have not approached yet.The education of oneself of the actual condition and the ways of optimising activities of daily living for a sufferer and that of their family my first focus.With more education i will then look towards research.I will be very grateful to all of you here for support in the coming weeks,months,years.It a day at a time process.....and what i have read here and learned so far is invaluable.

Thank you,

Gerardine.

Hi Again Geraldine ,

 

There is relative agreement on treatment at this point - I think the the only variable is exactly when things start.  Briefly:

 

  • Boys are put on Deflazacort, between 4 and 6 years old.  It extends their ambulation a couple of years - there's a great article here: http://www.parentprojectmd.org/site/DocServer/filename?docID=124.
  • Boys also put on a cardiac med (in the Enalapril or Linsinopril family) at about the same time.
  • Boys typically also wear night splints to stretch the Achilles tendon from an early age.
  • Regular physical therapy and stretching is also important - swimming is also great - lots of information is available about that online.
  • Additionally, a lot of families have their boys on a regimen of supplements - that's worth researching yourself as time goes on.

There's a new standards of care document published last year .  It's available here: http://www.treat-dmd.eu/patients/DMD/dmd-care/ 

 

While this summarizes the treatment now, things are changing because all of the research, so it's imperative that you find a doctor who is on top of this disease.  Many aren't because it's rare, and many DMD families can tell you stories of getting REALLY bad advice from a physician before finding the right one.

 

All the best to you.

 

Steve

 

Gerardine Gardezi said:

Hello Steve,

My computer acting up a bit at moment so my replies going a bit funny!

Thank you for replying.I hope your son is doing well and know the shock must have been overwhelming.We got the news very recently and it is very raw at the moment.But like all aspects of life,one has to get back up and move forward.....our children depend on us.That saying...i would die for my children.....the amount of mental bargaining one does with God or whatever Deity one believes in....after a while a person realises that doesn't work and the only thing that does is knowledge and support.Research aspects i honestly have not approached yet.The education of oneself of the actual condition and the ways of optimising activities of daily living for a sufferer and that of their family my first focus.With more education i will then look towards research.I will be very grateful to all of you here for support in the coming weeks,months,years.It a day at a time process.....and what i have read here and learned so far is invaluable.

Thank you,

Gerardine.

Thank you for that.My sister has met with the team assigned to her son's care----Neurologist,Paediatrician,OT,PT and Enable Ireland,an organisation who will be her main support.The have visited a great swimming complex on site at a venue where a lot of follow up care will be conducted.Here the whole family can avail of the facilities so his siblings are not alienated either.What i gain here will help me to help her and all of us to get on with things more educated and less fearful.

Again thank you for promptness,

Imust go look after my own children now.....easy to spend hours online!!

Gerardine.

Steve Dreher said:

Hi Again Geraldine ,

 

There is relative agreement on treatment at this point - I think the the only variable is exactly when things start.  Briefly:

 

  • Boys are put on Deflazacort, between 4 and 6 years old.  It extends their ambulation a couple of years - there's a great article here: http://www.parentprojectmd.org/site/DocServer/filename?docID=124.
  • Boys also put on a cardiac med (in the Enalapril or Linsinopril family) at about the same time.
  • Boys typically also wear night splints to stretch the Achilles tendon from an early age.
  • Regular physical therapy and stretching is also important - swimming is also great - lots of information is available about that online.
  • Additionally, a lot of families have their boys on a regimen of supplements - that's worth researching yourself as time goes on.

There's a new standards of care document published last year .  It's available here: http://www.treat-dmd.eu/patients/DMD/dmd-care/ 

 

While this summarizes the treatment now, things are changing because all of the research, so it's imperative that you find a doctor who is on top of this disease.  Many aren't because it's rare, and many DMD families can tell you stories of getting REALLY bad advice from a physician before finding the right one.

 

All the best to you.

 

Steve

 

Gerardine Gardezi said:

Hello Steve,

My computer acting up a bit at moment so my replies going a bit funny!

Thank you for replying.I hope your son is doing well and know the shock must have been overwhelming.We got the news very recently and it is very raw at the moment.But like all aspects of life,one has to get back up and move forward.....our children depend on us.That saying...i would die for my children.....the amount of mental bargaining one does with God or whatever Deity one believes in....after a while a person realises that doesn't work and the only thing that does is knowledge and support.Research aspects i honestly have not approached yet.The education of oneself of the actual condition and the ways of optimising activities of daily living for a sufferer and that of their family my first focus.With more education i will then look towards research.I will be very grateful to all of you here for support in the coming weeks,months,years.It a day at a time process.....and what i have read here and learned so far is invaluable.

Thank you,

Gerardine.

Hi Gerardine,

My name is Damien Lynch. I live in Tipperary in Ireland. Our son is 6 years old this year and was diagnosed with DMD 2 years ago. I sent you a friend request to you through the forum. I found contacting other families in Ireland supportive for us, especially in the months after the diagnosis. You are very welcome to contact me if you like.

 

All the best,

Damien



damien lynch said:

Hi Gerardine,

My name is Damien Lynch. I live in Tipperary in Ireland. Our son is 6 years old this year and was diagnosed with DMD 2 years ago. I sent you a friend request to you through the forum. I found contacting other families in Ireland supportive for us, especially in the months after the diagnosis. You are very welcome to contact me if you like.

 

All the best,

Damien

Thank you Damien.I have been away for a while from this site,hence my delay with reply.I very much appreciate the support here.I will try to be in touch more with time.One thing that worries me a bit is the fact it a bit public what we write.....when i googled myself my articles jump out at me.I guess it will take bit time to get used to it.One interest i have at present is hearing defficit/impairment.Do many children present with this and what is available to help with delayed speech.

If i am slow to reply to anyone please forgive me.

Yours,Gerardine.

 

Gerardine,

See this link..., I'm not sure has your sister availed of this service...every child in the country with needs is entitled to be assessed....copy into your browser. If you have not, availed of this, I suggest you get the ball rolling ...one point to note, the child needs to be assessed before age 5. From the assessment, needs are identified for speech, OT, etc...Anyone in Enable Ireland will point you in the right diection for this....

Speech was a big issue with Dylan, still is, but he's vastly improved.....

My e mail is mcconnellandlynch@eircom.net

 

All the best to you and your family...

Damien 


http://www.inclusionireland.ie/AssessmentofNeed.asp
Gerardine Gardezi said:

Thank you Damien.I have been away for a while from this site,hence my delay with reply.I very much appreciate the support here.I will try to be in touch more with time.One thing that worries me a bit is the fact it a bit public what we write.....when i googled myself my articles jump out at me.I guess it will take bit time to get used to it.One interest i have at present is hearing defficit/impairment.Do many children present with this and what is available to help with delayed speech.

If i am slow to reply to anyone please forgive me.

Yours,Gerardine.

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