My little boy Sam is 14 months. He has had delayed gross motor development and they checked his CK levels today and they are grossly elevated - what does this mean for us? How high are they in muscular dystrophy? The doctor says his levels are in the thousands. Help me please I am so scared
tracy, i know how hard it is for you right now and i hope that everything turns out okay for you and your son and your family. my sons ck levels were in the high 20,000. the younger they are i believe the higher ck levels and the levels get lower as they get older. i will pray for you and your family.
tracym dmd-cpt6284@lists.careplace.com wrote:
Hi Tracy -
Normally a CK test should be very very low or zero. My suggestion is to
have them to conduct a genetic blood test where they can test for for a
muscular dystrophy (check with your insurance carrier for coverage) if the
test is positive, you can also get tested as Ducehnne/Becker is carried by
the mother (you could be a carrier, or it could have developed from a
spontanious mutation), I would also suggest talking to the MDA and have them
get you in touch with families that have MD for you to talk to. Families
can be very supportive and have lots of information for you.
Our son was diagnosed at 5 years old, right now there is so much research
going on that I’m very sure that there will be a cure.
One other thing, don’t believe everything you read on the internet - I
personally know of “kids” in there 20’s and 30’s that have Duchenne, one
just graduated from college last year.
Good luck!
Brian
-----Original Message-----
From: tracym [mailto:dmd-cpt6284@lists.careplace.com]
Sent: Thursday, October 11, 2007 5:48 PM
To: bkwolf@sbcglobal.net
Subject: [dmd] Please help me
Tracy, I understand your concern. Ethan’s levels fluctuate and have
been in the 20,000 range. It could be other things, though. So don’t
lose your mind until you know all of what’s going on. I’ll keep you in
my thoughts and please let me know what happens…I’d like to keep in
touch with you. Linda
Quoting tracym dmd-cpt6284@lists.careplace.com:
Here is a web site where you can get lots of good information.
www.parentprojectmd.org (http://www.parentprojectmd.org) They have a message board where
you can post questions and talk to others who have gone threw this already.
My sons C.K was 14,000 . Are your sons doctors running a DNA test to confirm?
I know you are in shock, I’ll pray for you and your son. I wish I knew what
to say to ease your fear.
************************************** See what’s new at http://www.aol.com
Elevated CK could mean DMD. However, you need more information.They may try to convince you to do a biopsy. Please know that this is very outdated advice. You do not need to put your son through this in order to find out. You need to see Kevin Flannigan in Utah. They can send you a kit and you can send them bloodwork. They can do a test called gene sequenceing which is non-invasive.You can do this as part of a study for no charge. Please contact me and I will be happy to help you. Jill2168@earthlink.net
I understand how scared you are. try to breathe.
Thank you for your replies. Ican barely see through my tears. My older boyhas severe special needs and I just cant believe that now we could be looking at something even worse for Sam. We live in Northern Ireland UK. I have treid to ring the neurologist this morning but they will not talk to me and have to wait 4 weeks for them to see us. I think I will have lost my mind by then.
Tracy,
I hope this isn’t premature as you said your waiting for follow-up on your son’s diagnosis.
My son was diagnosed last year with Duchenne MD(on the late side at 6). If the diagnosis is confirmed through a DNA test, please know that you will bear this, you can get through it. You know those stages of grief? Well, I think they come concurrently, out of order or sometimes stages get skipped. I really like what someone else wrote to you about taking a breath. Sometimes that’s the only way I survive a single moment. You love your son more than life itself and you know the some of the difficulties of life from your other child. If he has DMD,you are completely allowed to mourn the life you hope for your son and still wake up every morning ready to love him and love the time you have together. Those dreams aren’t impossible with DMD, just different. Sometimes I think the hardest part is not feeling guilty about your feelings. Take care of yourself. Let your friends, neighbors, other parents, your adult family, know exactly what this entails so they can be there for you, your partner and your children. Please e-mail me directly if you need a friend or information or resources. miloandjules@yahoo.com. I’m in California in the US.
Rebecca
Hang in there. My husband is 31 and has DMD. Nobody knows for sure what the future holds for any of us. Stay positive there are alot of better treatments out there to help DMD sufferers live longer. Hopefully there will be a treatment that will stop DMD all together they are working on it. You should look up PTC theraputics http://www.clinicaltrials.gov/ct/show/NCT00264888?order=1 they are doing trials and from what Ive read the results are pretty good. When I read about it, it kept me hopeful. Prayers positive thinking and knowing that your not alone help alot.
From: tracym
Reply-To: tracym
To: bobertacollins@hotmail.com
Subject: [dmd] Please help me
Date: Thu, 11 Oct 2007 17:48:28 -0400
>
Can I ask you all if any symptoms in infancy gave you clues to yoru childrens condition? Sam had meningitis at birth and almost died, and in the early months thereafter we were slightly concerned that he was not beginning to eg lift his head. Then there were concerns a little later that he did not roll. Although he did dit unaided at 7.5 months he has never crawled - he cannot even lift his head off the floor if placed on his tummy, and certainly does not have the strength to puch his arms and lift up onto all fours. He has very low tone, and when you lift him it is as through he falls through your hands - he is not ‘bracing’ as other little ones do. He had no parachute reflex, and has only recently (12 months ) even started to take any weight on his feet (until then when you held him up he just dangled his feet and would not bear any weight). He now bottom shuffels to get around. His physio had expressed concerns which is why we had the CK test done on Thursday. They phoned us only 2 hours later to tell us this awful news. I am led to believe that it is practically unheard of to have this picked up so early - does this mean that it will progress faster? We had an amnio done specifically to test for MDs as there was concern re my older boy at that time (though his diagnosis turned out different) - but I have just found out that the lab only tested chromosomes, and that DNA was not tested. Clerical error. I feel like my insides have been minced up. Cant eat or sleep. How unlucky to have 2 boys with different disabilities.
Hi Rebecca,
You mentioned that your son was diagnosed “on the late side” because he was six. Even though many kids are probably dx around 4 or 5, some are dx as infants and some are dx later. My son was 8 when he was dx and probably wouldn’t have been dx until a year or two later if the school hadn’t pushed the dr to send him to a OT for evaluation. Maybe that will make you feel a little better, (although it sounds like you are doing well) because sometimes the symptoms are not as obvious as you might think.
Terri
Tracy,
I hope this isn’t premature as you said your waiting for follow-up on your son’s
diagnosis.
My son was diagnosed last year with Duchenne MD(on the late side at 6). If the
diagnosis is confirmed through a DNA test, please know that you will bear this,
you can get through it. You know those stages of grief? Well, I think they come
concurrently, out of order or sometimes stages get skipped. I really like what
someone else wrote to you about taking a breath. Sometimes that’s the only way I
survive a single moment. You love your son more than life itself and you know
the some of the difficulties of life from your other child. If he has DMD,you
are completely allowed to mourn the life you hope for your son and still wake up
every morning ready to love him and love the time you have together. Those
dreams aren’t impossible with DMD, just different. Sometimes I think the hardest
part is not feeling guilty about your feelings. Take care of yourself. Let your
friends, neighbors, other parents, your adult family, know exactly what this
entails so they can be there for you, you
r
partner and your children. Please e-mail me directly if you need a friend or
information or resources. miloandjules@yahoo.com. I’m in California in the US.
Rebecca
I know it is very scary to find this out, and I know that it sounds so overwheming. Just take it step by step and you will be able to cope with it, but it is a hard process. I don’t know what my older sons were but I believe my youngest was like 14,000 but I can’t remember for sure.
Terri
-------------- Original message --------------
From: tracym dmd-cpt6284@lists.careplace.com
Yes, there is progress with the PTC drug (our son was the first on it in the clincial trial) however it only helps specific types of mutations. I think right now, since things are probably so overwhelming, I would focus on one step at a time. just know there is hope out there for all the boys and what the doctors told you is how things have gone in the past not necessarily how they will go in the future. Your son is very young and things could be entirely different by the time he gets older. Just get the sequence done so you can see which way to go.
Hang in there. It will be ok.
no, I know several boys that were diagnosed that early - it has nothing to do with the progression. In fact, my boy was terribly weak until about 3 and then from 3 to now (he’s 8) he has just gotten better at his gross motor skills. Also the low tone can also be addressed through sensory work. Sometimes the sensory delay is contributing to the muscle tone and making it seem worse. My son is 8 and doing very well. We found out at three and were very aggressive. He is still walking and happy and only needs a scooter for really long distances. the earlier you find out the more agressive you can be with the interventions. the object is to slow the progression while we find answers. becasue your son is so young you have the gift of time on your side.
I’m sorry about your news. I remember I couldn’t breathe (that’s why I reminded you to do that) and the first few months were so hard. But then I contacted Pat Furlong from Parent Project and she called me right back. I realized there was so much hope and so many things we could do. that really consoled me. Doing something about it took away that feeling of helplessness for me.
That’s my story- everyone has thier own journey. And the phases you go through are all ok. Please let me know if I can do anything.
Jill
If it is MD, it’s a genetic thing and the meningitis didn’t have anything to
do with it - or be a sympton or sign of MD. Really early on the only signs
you’ll see are delayed motor skills, gowers manuever to get up from the
floor, an innability to jump with both feet at the same time. As they get
old you the differences become more apparent when they cannot keep up with
their peers in running or playing tag, have a hard time riding a big wheel
or bicycle up slight inclines or hills.
My son was diagnosed at 5 and turned 8 about 3 weeks ago, and he’s able to
walk and run, has difficulties going up/down stairs, but he’s riding his big
wheel all over. We got a trampoline over the summer and he loves hopping on
that. We take him swimming in a couple of different programs during the
week. His school gym class takes him into account and they alter the games
so he can have a fair chance (like he has to get tagged 2 or 3 times when
they play tag instead of once).
You may want to talk to a family counselor or someone who can help you get
through this tough time, they can prescbibe meds to help you sleep. Our
doctor always reminds us that we’re not raising a muscle or a disease, we’re
raising a child - you have to keep that in the back of your mind, they
manage to get around and do everything they can however they can. It’s
pretty amazing what the kids can do when you think they are going to have a
hard time, they manage to pull it off.
-----Original Message-----
From: tracym [mailto:dmd-cpt6284@lists.careplace.com]
Sent: Saturday, October 13, 2007 10:17 AM
To: bkwolf@sbcglobal.net
Subject: Re: [dmd] Please help me
What did your other son get diagnosed with and what symptems did he have? What kinds of tests did they do and did they do any of them with your youngest? Did they do a CK level on either of them?
My kids never specifically had issues with their heads. Nathan wasn’t able to transiston when he was a baby. He could stand if I stood him or sit if I sat him up but couldnt go from laying to sitting or sitting to standing even at a year old. I didn’t know about DMD and that must not have been on of the things they tested him for. Once he was put on iron, and more when it was increased, he started doing it all so I assumed that it was caused by an iron deficentcy. I did notice that they did not hold onto me like other babys hold on, but could it also be an issue of trust? Well, I wasn’t sure at that point why they didn’t hold on with arms OR legs. I wish they had tested Nathan as an infant, but I’m not sure there was even a test at that point. He was dx at 8, and his dx led to my other 2 sons being testd at 4 1/2 and 1 month.
I agree it is hard to have more than one dx whether it’s the same thing or not.
Terri
-------------- Original message --------------
From: tracym dmd-cpt6284@lists.careplace.com
It was most probably a coincidence that in the process for dx the menengitis they found that he had the DMD. I don’t think that she associated the Menengitis with DMD
Terri
-------------- Original message --------------
From: sbcbwolf dmd-cpt6284@lists.careplace.com
If it is MD, it’s a genetic thing and the meningitis didn’t have anything to
do with it - or be a sympton or sign of MD. Really early on the only signs
you’ll see are delayed motor skills, gowers manuever to get up from the
floor, an innability to jump with both feet at the same time. As they get
old you the differences become more apparent when they cannot keep up with
their peers in running or playing
tag, have a hard time riding a big wheel
or bicycle up slight inclines or hills.My son was diagnosed at 5 and turned 8 about 3 weeks ago, and he’s able to
walk and run, has difficulties going up/down stairs, but he’s riding his big
wheel all over. We got a trampoline over the summer and he loves hopping on
that. We take him swimming in a couple of different programs during the
week. His school gym class takes him into account and they alter the games
so he can have a fair chance (like he has to get tagged 2 or 3 times when
they play tag instead of once).You may want to talk to a family counselor or someone who can help you get
through this tough time, they can prescbibe meds to help you sleep. Our
doctor always reminds us that we’re not raising a muscle or a disease, we’re
raising a child - you have to keep that in the back of your mind, they
manage to get around and do everything they can however they can. It’s
pretty amazing what the kids can do when you think they are
going to have a
hard time, they manage to pull it off.
Callum (now 5) has no real solid diagnosis - they have ruled a lot of things out and all we know is that he has severe verbal and oral dyapraxia (he cannot talk and has no verbal commuincation and cannot make the sounds he needs for speech). He also has learning difficulties and is retarded. He finds it difficult to walk, cannot jump and is very unco-ordinated and can only recently transition from sitting to standing. They have eliminated many things through tests - one of the things they suspacted when he was 3 (and just after I got pregnant with Sam) - was MD. He had Ck tests which were not elevated, but they did a muscle biopsy anyway as I was pregnant and they wanted to rule out some of the MDs that do not show up with raised CK levels. His biopsy came back clear. I went ahead at the same time and had the amnio, to try to rule out any major abnormalities. I had been under the impression they tested for MD, as I recall having a conversation with the geneticist about DMD - until this happened on Thursday and I called the lab to find out and it turns out all the actually tested for was Downs. So in addition to shock and grief I also have immense anger boiling within me. Sam had meningitis as a 4 day old baby - he fought his way through it and survived. I know the meningitis and MD are not linked. Now I wonder was it meant to take him to spare him what is ahead with this disease. Tell me - does DMD only affect physical ability or am I looking at mental disability as well? Your profile says that you have already lost one of your boys… I am so very sorry. What age was he? How are your other 2 boys? You seem to have an incredible strength. I was only just getting to a point where I was trying to get my head round Callum’s problems and I just dont know how I will cope with this.
A few questions - what ages were your boys when they started to walk> Sam is barely even placing weight on his feet yet and cannot stand (14 months). Also - if I am a carrier of this will me sister be too? She is just trying for a baby so I am guessing she will need to be tested?
This gets carried by females and manifests in males right? I was one of 2 kids, both girls, my mum was an only child and her mum was an only child too… I am guessing this has lain dormant for a few generations and only manifested in my boy?