Loading ...
Sorry, an error occurred while loading the content.

Re: [Mito] Chest Wall Deformity

Expand Messages
  • uzma butt
    Hi Jane My son does not have chest wall deformity none that we are aware of yet, however has been making very strange breathing sounds.which we are having
    Message 1 of 13 , May 1, 2007
    • 0 Attachment
      Hi Jane
       
      My son does not have chest wall deformity none that we are aware of yet, however has been making very strange breathing sounds.which we are having investigated.  I'm really emailing as I know how you feel, and you've been through so much more and longer than I have, however, the pain and heartache is just the same.  Stay strong, and I wil keep you in my prayers and your daughter to have the energy and strength to support your daughter. Your strenght has probably kept everyone around you going.
       
      Take care Uzma
       
      Mum to Hussan 1 year old undx Leigh's (MRI positive)
      Safiyah (3.5) healthy


      Jane Gonzales <cuznj@...> wrote:
      Hi all...
      My girl has been throught the mill for all of her ten years, but we
      almost lost her last September and it has been one hit after another
      for her and for us since that time. She barely survived Metabolic
      Acidosis (Docs told us a few more hours and she wouldn't have
      survived). Throughout VERY extensive genetic/metabolic testing, they
      said she has mito but to determine what kind, she would need a muscle
      biopsy, but NONE of her specialists want to sedate her because it was
      after sedation for a followup MRI on her spine that she ended up in
      Metabolic Acidosis and they have all said unless it is life
      threatening, it is not worth the risk to her. Then on 10/31/06, she
      fell at school and fractured her femor in her left leg...throughout
      all the xrays and ortho visits for that incident, we came to learn
      that she has osteopenia.. .SHE IS 10...then we found out she has
      several compression fractures in her spine that put her at risk for
      lung puncture...that investigation led us to endocrinology , who
      through very detailed history and blood/urine, found she has
      hyperthyroism. ..she has had two episodes where she has gotten really
      out of breath...one she wasn't active doing anything and the other
      she simply crawled down the hal and back to lr and was bteathing like
      she has ran a marathon, mind you she has been inactive since she got
      hurt on Halloween. We go to her primary today and I show him how her
      chest is literally protruding.. .it is a chest wall deformity... could
      be from the osteopenia, or her scoliosis or she could have been born
      with it and it is becoming more prominent as she is growing...I am
      scared to death...I am the strong one in this family and I am the one
      who keeps it together...swallow what you have to deal with and watch
      your baby go through SO much...now this...WOW!! !
      Do any of your children had this chest wall issue? Man, this can not
      only effect lungs, which may be why she has started having these
      wierd breathing episodes, it can be taxing on her heart as well...
      She has a trip planned to Disneyland in August and i keep thinking
      more and more that maybe we should move that up...I am SO afraid
      something is going to happen before todays visit and even more so
      since...I am not a negative person (or at least not usually) but I
      have not dealt with any heart or lung issues and I am WAY out of my
      realm with this and i am thinking if they wont sedate her for mri,
      they REALLY arent going to sedate her to do a major surgery like this
      problem would require...my hear just aches tonight...
      Thank you for listening to me ramble. Please let me know if any of
      you have dealt with this chest wall deformity thing before. I am a
      tough Mom...been hangin right by my baby's side and will continue to
      do so, but my heart feels so weak some days and today is one of those
      days...watching them go through so much and not being able to control
      all of it REALLY stinks.
      Thank you for taking the time to read this and please keep our
      dollbaby Jessica in prayer...she is such a blessing to us...

      Jane Gonzales
      Wife to Sal, Mom to Jennifer and Jessica
      Jes' Caringbridge: www.caringbridge. org
      Site name: jessicagonzales06
      Password: jesuslovesme



      Yahoo! Answers - Got a question? Someone out there knows the answer. Try it now.

    • ilikemonstertrucks
      I have a pectus (the middle of my chest (sternum?) caves in remarkably) that has gotten worse as I grew.. I also have scoliosis but htey think its unrelated...
      Message 2 of 13 , May 1, 2007
      • 0 Attachment
        I have a pectus (the middle of my chest (sternum?) caves in
        remarkably) that has gotten worse as I grew.. I also have scoliosis
        but htey think its unrelated... Brandon has it as well... it hasnt
        been an issue though... I do have chest pain on a pretty regular
        basis that they think is related to that as theres never been any
        other cause figured out.

        Im so sorry for all you have been thorugh, it sounds like a rough
        ride.. I hope you guys get some answers soon.

        Keely
        www.caringbridge.org/visit/brandonandtyler

        --- In Mito@yahoogroups.com, "Jane Gonzales" <cuznj@...> wrote:
        >
        > Hi all...
        > My girl has been throught the mill for all of her ten years, but we
        > almost lost her last September and it has been one hit after
        another
        > for her and for us since that time. She barely survived Metabolic
        > Acidosis (Docs told us a few more hours and she wouldn't have
        > survived). Throughout VERY extensive genetic/metabolic testing,
        they
        > said she has mito but to determine what kind, she would need a
        muscle
        > biopsy, but NONE of her specialists want to sedate her because it
        was
        > after sedation for a followup MRI on her spine that she ended up in
        > Metabolic Acidosis and they have all said unless it is life
        > threatening, it is not worth the risk to her. Then on 10/31/06, she
        > fell at school and fractured her femor in her left leg...throughout
        > all the xrays and ortho visits for that incident, we came to learn
        > that she has osteopenia...SHE IS 10...then we found out she has
        > several compression fractures in her spine that put her at risk for
        > lung puncture...that investigation led us to endocrinology , who
        > through very detailed history and blood/urine, found she has
        > hyperthyroism...she has had two episodes where she has gotten
        really
        > out of breath...one she wasn't active doing anything and the other
        > she simply crawled down the hal and back to lr and was bteathing
        like
        > she has ran a marathon, mind you she has been inactive since she
        got
        > hurt on Halloween. We go to her primary today and I show him how
        her
        > chest is literally protruding...it is a chest wall
        deformity...could
        > be from the osteopenia, or her scoliosis or she could have been
        born
        > with it and it is becoming more prominent as she is growing...I am
        > scared to death...I am the strong one in this family and I am the
        one
        > who keeps it together...swallow what you have to deal with and
        watch
        > your baby go through SO much...now this...WOW!!!
        > Do any of your children had this chest wall issue? Man, this can
        not
        > only effect lungs, which may be why she has started having these
        > wierd breathing episodes, it can be taxing on her heart as well...
        > She has a trip planned to Disneyland in August and i keep thinking
        > more and more that maybe we should move that up...I am SO afraid
        > something is going to happen before todays visit and even more so
        > since...I am not a negative person (or at least not usually) but I
        > have not dealt with any heart or lung issues and I am WAY out of my
        > realm with this and i am thinking if they wont sedate her for mri,
        > they REALLY arent going to sedate her to do a major surgery like
        this
        > problem would require...my hear just aches tonight...
        > Thank you for listening to me ramble. Please let me know if any of
        > you have dealt with this chest wall deformity thing before. I am a
        > tough Mom...been hangin right by my baby's side and will continue
        to
        > do so, but my heart feels so weak some days and today is one of
        those
        > days...watching them go through so much and not being able to
        control
        > all of it REALLY stinks.
        > Thank you for taking the time to read this and please keep our
        > dollbaby Jessica in prayer...she is such a blessing to us...
        >
        > Jane Gonzales
        > Wife to Sal, Mom to Jennifer and Jessica
        > Jes' Caringbridge: www.caringbridge.org
        > Site name: jessicagonzales06
        > Password: jesuslovesme
        >
      • Laura
        ... We go to her primary today and I show him how her ... My kids both have pectus excavatum. That means their chest wall caves in. My son s being worked up
        Message 3 of 13 , May 1, 2007
        • 0 Attachment
          --- In Mito@yahoogroups.com, "Jane Gonzales" <cuznj@...> wrote:
          We go to her primary today and I show him how her
          > chest is literally protruding...it is a chest wall deformity...could
          > be from the osteopenia, or her scoliosis or she could have been born
          > with it and it is becoming more prominent as she is growing.

          My kids both have pectus excavatum. That means their chest wall caves in. My son's being
          worked up for osteoporosis. He's 18. There are a number of mito kids with calcium issues.
          My son's losing the calcium in this teeth.

          Laura
        • ilikemonstertrucks
          Laura is pectus excavatum a sign of osteo?? Mine has progressively gotten worse over the years, but nobody has ever been concerned about it... Early age osteo
          Message 4 of 13 , May 1, 2007
          • 0 Attachment
            Laura is pectus excavatum a sign of osteo??
            Mine has progressively gotten worse over the years, but nobody has
            ever been concerned about it... Early age osteo runs in my family
            too.
            I hope his tests come back fine in this area.

            Keely

            --- In Mito@yahoogroups.com, "Laura" <tbnkatie@...> wrote:
            >
            > --- In Mito@yahoogroups.com, "Jane Gonzales" <cuznj@> wrote:
            > We go to her primary today and I show him how her
            > > chest is literally protruding...it is a chest wall
            deformity...could
            > > be from the osteopenia, or her scoliosis or she could have been
            born
            > > with it and it is becoming more prominent as she is growing.
            >
            > My kids both have pectus excavatum. That means their chest wall
            caves in. My son's being
            > worked up for osteoporosis. He's 18. There are a number of mito
            kids with calcium issues.
            > My son's losing the calcium in this teeth.
            >
            > Laura
            >
          • Laura
            ... Pectus excavatum is usually found at birth (or as a young person). Katie was five before we noticed. Thomas was a teen. They don t really do anything about
            Message 5 of 13 , May 1, 2007
            • 0 Attachment
              --- In Mito@yahoogroups.com, "ilikemonstertrucks" <tig_ger51@...> wrote:
              >
              > Laura is pectus excavatum a sign of osteo??
              > Mine has progressively gotten worse over the years, but nobody has
              > ever been concerned about it... Early age osteo runs in my family

              Pectus excavatum is usually found at birth (or as a young person). Katie was five before we
              noticed. Thomas was a teen. They don't really do anything about it unless it's bad enough
              to repair surgically. You'd need to have restrictive breathing/cardiac function to endure
              the surgery. It wouldn't be a surgery I'd want to have (unless absolutely necessary).

              http://www.ctds.info/pectus_excavatum.html#bone
              Scoliosis, Bone Densities and Pectus Excavatum

              "Research shows that pectus excavatum is closely associated with scoliosis. Almost all
              studies of scoliosis and bone densities show that people with the disorder have low bone
              densities. A 1999 study in Europe recommended that everyone with scoliosis be screened
              for osteopenia, even children. (See my related section on scoliosis.) It would be logical to
              consider the possibility that people with pectus excavatum also have bone density issues
              and as a cause of why their chests sink in.

              In disorders where people have sunken chests as a prominent feature, studies show that
              they almost invariably have osteopenia or osteoporosis. These conditions include:
              Marfan syndrome, Ehlers-Danlos syndrome, Homocystinuria, Osteogenesis imperfecta,
              Down syndrome, Turner syndrome, Noonan syndrome, Rett syndrome, Cutis Laxa, x-
              linked, Beals syndrome, Shprintzen-Goldberg Craniosynostosis Syndrome, Camptodactyly
              Syndrome."

              http://www.emedicine.com/ped/topic2558.htm
              http://www.nlm.nih.gov/medlineplus/ency/article/003320.htm
              http://www.pectusdeformity.com/
              http://www.ctds.info/pectus_excavatum.html
            • ilikemonstertrucks
              Wow.. I know they did a marfans workup on me as a child (normal) because of my scoliosis, double joints, and heart/eye issues, but nobody has ever even given
              Message 6 of 13 , May 1, 2007
              • 0 Attachment
                Wow.. I know they did a marfans workup on me as a child (normal)
                because of my scoliosis, double joints, and heart/eye issues, but
                nobody has ever even given my pectus issue a second thought... its
                mentioned in all my xrays, and is quite obvious, but its never really
                been a source of concern...
                Keely

                --- In Mito@yahoogroups.com, "Laura" <tbnkatie@...> wrote:
                >
                > --- In Mito@yahoogroups.com, "ilikemonstertrucks" <tig_ger51@>
                wrote:
                > >
                > > Laura is pectus excavatum a sign of osteo??
                > > Mine has progressively gotten worse over the years, but nobody
                has
                > > ever been concerned about it... Early age osteo runs in my family
                >
                > Pectus excavatum is usually found at birth (or as a young person).
                Katie was five before we
                > noticed. Thomas was a teen. They don't really do anything about it
                unless it's bad enough
                > to repair surgically. You'd need to have restrictive
                breathing/cardiac function to endure
                > the surgery. It wouldn't be a surgery I'd want to have (unless
                absolutely necessary).
                >
                > http://www.ctds.info/pectus_excavatum.html#bone
                > Scoliosis, Bone Densities and Pectus Excavatum
                >
                > "Research shows that pectus excavatum is closely associated with
                scoliosis. Almost all
                > studies of scoliosis and bone densities show that people with the
                disorder have low bone
                > densities. A 1999 study in Europe recommended that everyone with
                scoliosis be screened
                > for osteopenia, even children. (See my related section on
                scoliosis.) It would be logical to
                > consider the possibility that people with pectus excavatum also
                have bone density issues
                > and as a cause of why their chests sink in.
                >
                > In disorders where people have sunken chests as a prominent
                feature, studies show that
                > they almost invariably have osteopenia or osteoporosis. These
                conditions include:
                > Marfan syndrome, Ehlers-Danlos syndrome, Homocystinuria,
                Osteogenesis imperfecta,
                > Down syndrome, Turner syndrome, Noonan syndrome, Rett syndrome,
                Cutis Laxa, x-
                > linked, Beals syndrome, Shprintzen-Goldberg Craniosynostosis
                Syndrome, Camptodactyly
                > Syndrome."
                >
                > http://www.emedicine.com/ped/topic2558.htm
                > http://www.nlm.nih.gov/medlineplus/ency/article/003320.htm
                > http://www.pectusdeformity.com/
                > http://www.ctds.info/pectus_excavatum.html
                >
              • Jenna
                sorry she s been struggling....we re all here for you...I don t have really any suggestions but you said: NONE of her specialists want to sedate her because
                Message 7 of 13 , May 1, 2007
                • 0 Attachment
                  sorry she's been struggling....we're all here for you...I don't have
                  really any suggestions but you said:

                  "NONE of her specialists want to sedate her because it was
                  after sedation for a followup MRI on her spine that she ended up in
                  Metabolic Acidosis and they have all said unless it is life
                  threatening, it is not worth the risk to her"

                  just wanted to let you know I understand how frustrating that can
                  be...we were close to losing Rachel after her last anesthesia even
                  with all the precautions in place...her docs want another MRI with
                  spect. but cannot give ehr anything not even versed...her frozen
                  biopsy was inconclusive but we cna't risk a fresh

                  jenna
                • Jane Gonzales
                  Hi there and thanks for your response. I tell ya, without this list and several others I belong to, I would have long since lost my sanity! It is a REAL scary
                  Message 8 of 13 , May 3, 2007
                  • 0 Attachment

                    Hi there and thanks for your response. I tell ya, without this list and several others I belong to, I would have long since lost my sanity!
                    It is a REAL scary place to be, as you well know when they don't want to sedate them. She had been sedated numerous times over the years with no problem, but for some reason in 9/06 the metabolic acidosis occured following mri and they said now unless life threatening wont do anymore.

                    I was majorly struggling the day we were told about this chest deformity. For her to have these breathing issues starting...WOW...just the mito and the compression fractures on her spine and the osteopenia...WOW!!! It has been a domino effect since 9/06, one thing right after another and MAN I am the strong one in my household and when I start struggling, its getting pretty bad. Just so darn scary when they have struggles at all, but then we are constantly getting into a whole new realm everytime we turn around and there really isn't much of anything we can do to control any of it! When they first told us about Mito (her bloodwork and urine point that way), they mentioned the biopsy...at first when they told us we may or may not get a definitive answer, we opted not to do it. In talking with my primary doctor, he said that if we did it while she was already sedated for her 6 mos post-op from surgery, she wouldn't even have a clue, so we had FINALY come to terms with doing it and then when time for mri, they told us they are simply not comfortable sedating her anymore...She is such a blessing to us and we just SO hate to watch her go through so much...it never stops. Hate to sound whiny because I know in comparison to what I see a lot of familes on here go through, our situation pales. Just want my baby to be able to enjoy herself and not have any more owies and enjoy life, whether it is 5 mins long or 50 yrs long...

                    ANYWAY, enough rambling! Hope you are having a good day and thanks again for your response and for the support....

                    Jane Gonzales
                    Wife to Sal, Mom to Jennifer and Jessica
                    Jes' site:   www.caringbridge.org
                                     jessicagonzales06
                                     jesuslovesme

                  • Jane Gonzales
                    Hi Keely... Probably wouldn t so much be a concern if we didn t have these wierd breathing issues popping up. No way to know at this point what is causing
                    Message 9 of 13 , May 3, 2007
                    • 0 Attachment

                      Hi Keely...

                      Probably wouldn't so much be a concern if we didn't have these wierd breathing issues popping up. No way to know at this point what is causing breathing stuff...osteopenia because it has caused her several spinal compression fractures which are still healing)? Mito related?? Chest deformity?? That is the scariest thing right now. It has only happened 2 x, but why???

                      I hope you continue to be fortunate with yours and it doesn't cause you any issues in the future. Surgery to fix sounds VERY major...


                      Jane Gonzales
                      Wife to Sal, Mom to Jennifer and Jessica
                      Jes' site:   www.caringbridge.org
                                       jessicagonzales06
                                       jesuslovesme

                    • Jane Gonzales
                      Hi there... Thanks for your response. My girl has low bone density and severe osteopenia...she is ten. We found out because she fractured her femor on
                      Message 10 of 13 , May 3, 2007
                      • 0 Attachment

                        Hi there...

                        Thanks for your response. My girl has low bone density and severe osteopenia...she is ten. We found out because she fractured her femor on Halloween last year and hasn't walked since. She had retrocardiac pneumonia in January and when primary looked at her x-ray from then, it didn't show. I am encouraged by the fact that he said the deformity that she has is the milder of the two. Do your kids have any health issues caused by theirs that are sunken in? What they have told me to do with her is call if it becomes more pronounced rapidly or if the breathing issues continue. I hope yours are doing well and you will be in my thoughts and prayers....


                        Jane Gonzales
                        Wife to Sal, Mom to Jennifer and Jessica
                        Jes' site:   www.caringbridge.org
                                         jessicagonzales06
                                         jesuslovesme

                      • Jane Gonzales
                        Hi there... Thank you so much for your response and your support...how would any of us get through without each other?? With all that all of us and our
                        Message 11 of 13 , May 3, 2007
                        • 0 Attachment

                          Hi there...

                          Thank you so much for your response and your support...how would any of us get through without each other?? With all that all of us and our children go through, we can relate to each other and when something new happens to our children, we know right where to go to get support and we can rest assured that there will be one (sometimes many more!) that have either been there or ARE there going through what we are and I tell you, without this group and others I belong to, I can't imagine how I would ever get through it all.

                          It doesn't matter how long or what the issue...we are ALL effected by this horrible disease and I just continue to pray that they find a cure for not only my dollbaby, but all who are effected by Mit.

                          I will have you and yours in my thoughts and prayers and again, thank you...


                          Jane Gonzales
                          Wife to Sal, Mom to Jennifer and Jessica
                          Jes' site:   www.caringbridge.org
                                           jessicagonzales06
                                           jesuslovesme

                        • Jane Gonzales
                          Yep, rough ride for sure...always has been, but been a domino effect since 9/06 when we almost lost her...I wish we could ALL get off this Mito ride...it
                          Message 12 of 13 , May 3, 2007
                          • 0 Attachment

                            Yep, rough ride for sure...always has been, but been a domino effect since 9/06 when we almost lost her...I wish we could ALL get off this Mito ride...it stinks when we can't control some or all of their issues. That is the most heartwrenching part for me. I just continue to pray they find a cure and try to hold on to the little itty bitty part of my sanity that I have left!

                            Thank you for the support...Without this list, I would already be nuts!!! I will keep you and yours in my thoughts and prayers.

                            Thanks again for your support!


                            Jane Gonzales
                            Wife to Sal, Mom to Jennifer and Jessica
                            Jes' site:   www.caringbridge.org
                                             jessicagonzales06
                                             jesuslovesme

                          Your message has been successfully submitted and would be delivered to recipients shortly.