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Is this SMARD? |
| Our son is 13weeks old and we are awaiting test results for SMARD.Jack was induced at 41wks+2 because of reduced movement and measuring small.When he was born he wasn't breathing or had a heart beat.He was ventilated immediately and 12 hours later put onto CPAP which he stayed on for 35days in intensive care.He has now been home with us for 7 weeks with a suction machine which is used regularly and all feeds are via an NG tube.Since he's been home he's had three colds and the last one seems to be worse and hanging around longer than the previous two. We've had SMA,prader-Willi,myotonic dystrophy and all metabolic,organic and amino acid tests back as normal. Does this sound familiar? We have read so many things and it breaks our hearts to think that we may lose our beautiful little boy before we have had any time with him.Any information anybody has would be really helpful.Thank-you |
| Posted: Tue Apr 11, 2006 10:01 pm |
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Re: Is this SMARD? |
hi karen...
where does one begin. my son, now 7 months old, has had all of the same tests you mentioned plus 2 muscle biopsies, skin and nerve biposies and the nerve conduction test and guess what...all came back negative. now they want to re-do the sma1 test because it is possible that my son falls into the 5% of sma children who do not have the common smn deletion (i think i said it right) anyway...your story sounds terribly familiar. i remember when they first tested my son for sma and we prayed that it came back negative, that was in october. now i find i am praying for it to come back positive so this quest for a final diagnosis comes to an end.
in the meantime, the treatment plan for my son is as follows...after a long horrible and scary road we decided to have him trached. my son is home on a ventilator with a g/j feeding tube, suction machine, pulse-ox, o2 tanks an o2 concentrator, and 24 hour nursing. he gets pt and ot 2 times a week for 45 minute sessions. last but not least, he gets lots of love and attention every precious second of the day.
although his long term prognosis is poor, he seems happy and is making some progress. he figured out how to make sounds despite the trach and now he "talks" all day long. he smiles, laughs and cries at appropriate times. his cognitive abilites are not compromised. he concentrates on every little word out of our mouths and is trying to communicate his needs in different ways everyday.
if you go to the discussion forum there is a conversation on smard which may be helpful for you to read. you can read more on the history of my son and other parents who have been through this experience there if you are interested...keep tissues next to you.
the doctors were shocked when the sma test came back negative and even more shocked when the smard test came back negative as well.
my son was born at 38 weeks after a normal pregnancy in which i felt him moving up to the minute i delivered. as soon as he exited the womb he turned blue and basically never moved again. we tried cpap and bi-pap which, for my son, didn't work over time which is why we opted for the trach. by the way, opting for the trach was an experience which i can not put into words because no words can express how difficult the decision was to make. right now i can tell you that the decision was right for us. the bottom line was that matthew was not ready to leave us and bipap did not work for him so long-long-long story short matthew had the tracheostomy done and finally came home.
after you and your family (and only you and your family) figure out the best way to take care of your precious little boy the only advise anyone can really give you is to cherish every second you have with him. give him the best life anyone can ask for.
feel free to contact me through my personal e-mail. i find reading and writing on the forums helps me. plus, i find that people in the regular world have no idea what this experience is like even with the best intentions and the biggest hearts...they have no idea
stay strong
danielle |
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Re: Re: Is this SMARD? |
Thankyou so much for your kind reply.
You are so very right, nobody has any idea what our lives have become unless you are in our world.
Everybodys offers of help are kind and thoughtful but quite useless, how can you train someone to babysit using the suction machine and other equipment we have when as you know there is no specific way of knowing when they need help apart from instinct which only comes from spending time with our son.
still waiting for results like you...... good luck we are thinking of you.
Karen |
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Re: Re: Re: Is this SMARD? |
| I dont know if anyone has been using this site for a while, - last entry was 2006 but i was wondering how Karen got on waiting for SMARD results, I just wanted to wish anyone in her situation at present to never give up hope. My baby has spent 5 months in hospital ventilated, (we came home with him 4 months ago), and everything suggested SMARD even our consultants were surprised when the test came back negative. However, there is the possibility of a different SMARD though it has no name, i call it SMARD 2 which presents in slightly older babies, and yet again, he is steadily improving all round albeit his diaghram is still not functioning. This last year has been the most horrific experience anyone can imagine, we have constantly strived to have a positive attitude with a 'my glass is half full' approach. We still have no diagnosis and dont know what the future may bring but we are lucky when we see what the outcome for many is. It is a different world. I wont witter on any more just in case no one is reading this specific site anymore! Please reply if you want to discuss anything. Bye Sue |
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Re: Re: Re: Re: Is this SMARD? |
Sue,
Our results came back negative for SMARD but positive for XLMTM- Myotubular Mopathy, but only after Jack ahving a muscle biopsy at 6months old. Sadly our brave little star passed away on his 1st birthday in January 2007. |
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Re: Re: Re: Re: Re: Is this SMARD? |
Dear Karen
I am so so sorry to hear that you lost Jack. I hope my enquiring hasnt upset you. There are so many things I would like to say but find it impossible to put into words as i am sure you
have experienced with how people react or deal with your loss. Thankfully my baby Jayden is making good progress but at the time that we came very close to losing him, - NOTHING can express the anguish you feel and there can be nothing worse than to lose your child. I sincerely wish you the very best for the future. Has the diagnosis you received caused other problems i.e. is it hereditary / genetic can you consider having further children? We have been strongly advised not to have any more. No one on the outside has any idea of the impact and strain everything has on our daily lives living and breathing medical issues and all that we have been through, i noted from your previous reply to someone else - that that all this is a different world that no one on the outside can understand. Anyway i will go for now, again i was shocked and saddened to hear about Jack, I hope you are keeping strong and positive. Take Care, Sue |
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Is this SMARD? |
Karen
I just wanted to say how sorry I am to hear that you lost your son Jack on his 1st birthday last year. I lost my daughter Jessica to SMARD in July 2000 and have since terminated 4 pregnancies as the CVS tests confirmed these babies were all affected. We have a healthy son Thomas who gives me a reason to get up every day but it has been a very long journey. We have decided not try again but I'm finding it hard to come to terms with that decision. Anyway enough about me, I really just wanted to say how sorry I am for your loss and hope you are ok. |
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