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

New parents seeking input

Expand Messages
  • simcoet
    Hi everyone, This is my first post on this board, wich I just began exploring a week or two ago. My wife and I have a beautiful 6 month old girl with
    Message 1 of 4 , May 4, 2007
    • 0 Attachment
      Hi everyone,

      This is my first post on this board, wich I just began exploring a
      week or two ago. My wife and I have a beautiful 6 month old girl
      with arthrogryposis named Naomi (she has a blog,
      supernaomi.blogspot.com, if you'd like to check it out). In addition
      to ankle, knee, and hip contractures, and ulnar deviation in her
      hands ("wind vane" or "windmill" hands), she also has dysphagia (for
      which a g-tube was placed when she was a month old) and, as we are
      now learning, some unusual problems with her eyes. I was wondering
      if anyone had any experience with any of this issues and might be
      able to share some insight.

      We haven't really had any kind of definitive diagnosis on the
      underlying cause of Naomi's AMC - neurologists have told us that
      anterior horn cell malformation/death (non-progressive) may be the
      cause, but that there isn't a really good way to confirm this. It
      seems to me that since Naomi has issues with swallowing and her eyes,
      which, to my poor layman's understanding, are above the anterior
      horn, this diagnosis may be incorrect. A geneticist told us that he
      thinks Naomi might have a condition in the spectrum of Freeman
      Sheldon syndrome (Naomi does not have any of the Freeman Sheldon
      facial characteristics, for those who are familiar with that
      syndrome, hence the "spectrum" qualification). He does not think she
      has neurological involvment.

      Naomi's eye problems involve one eye that oscillates a little, while
      the other seems unable to turn away from her nose. As we have been
      told, these problems don't go together and are independent of each
      other. We live in a relatively small place (total population in our
      area is around 500,000), and probably need to seek a second opinion
      from eye doctors in New York or Boston, which are the nearest metro
      areas.

      The problem with Naomi's swallowing is that it is uncoordinated. Some
      of what she swallows pools around her airway. She has a cough
      reflex, so there may not be any aspiration, but it has been a
      concern, so she doesn't get much nutrition orally. Naomi has
      problems with sound production and will likely have speech delays.

      So far, Naomi's social/cognitive development seems to be normal.

      So, for those of you who made it through my dissertation, I'm
      wondering if anyone out there has had experiences with any of these
      issues, and if so, what you did or didn't do, and how it has worked
      out. Also, Naomi just had surgery for vertical talus, and we
      anticipate hip surgery in another six months, so any pointers on
      dealing with that, particularly dealing with 3 months in the spica
      cast, would be appreciated.

      Many thanks!
    • beki@comcast.net
      Hey there, My son has some of the same issues. When he was born, he had a jaw contracture to the point that you couldn t put the fingertip of your pinkie
      Message 2 of 4 , May 4, 2007
      • 0 Attachment
        Hey there,

        My son has some of the same issues. When he was born, he had a jaw contracture to the point that you couldn't put the fingertip of your pinkie between his gums. He had swallowing dysphasia, micrognathia, and the doctors suspect a contracture in his tongue. He had contractures of his hands and feet and lesser ones in his shoulders, knees, hips, and shoulders. He later developed scoliosis. Dr Hall, who has since retired diagnosed him with atypical distal type 1A. Distal arthrogryposis is genetic as is Sheldon Freeman (IIRC, that is type 2A)

        We went to Children's Therapy Center of Kent for OT/PT/and speech therapy when my son was a baby. His speech therapist, Gay Llody Pinder is a recognized leader in feeding issues. She does a lot of consulting work with other healthcare providers, so talk to your docs if they seem to be at a loss. She can point them in the right direction. I know the docs will do swallow studies off and on to see how well your daughter does with the swallowing. Jason does have problems with speech. He is being seen at Seattle Children's for that. He just had an CT scan of his head to see if his jaw isnt being blocked by something. They want to either do a muscle transfer on his soft palate or create a button to close of his pharynx when he talks so he can make consonants. They are still running tests to figure out what and how they are going to accomplish what they want. It'd good that they got Naomi's g-tube installed early. Jason still has an aversion to anyone touching his face.
        I am rambling for now, but feel free to email me with questions that you have.

        Beki

        Hi everyone,

        This is my first post on this board, wich I just began exploring a
        week or two ago. My wife and I have a beautiful 6 month old girl
        with arthrogryposis named Naomi (she has a blog,
        supernaomi.blogspot.com, if you'd like to check it out). In addition
        to ankle, knee, and hip contractures, and ulnar deviation in her
        hands ("wind vane" or "windmill" hands), she also has dysphagia (for
        which a g-tube was placed when she was a month old) and, as we are
        now learning, some unusual problems with her eyes. I was wondering
        if anyone had any experience with any of this issues and might be
        able to share some insight.

        We haven't really had any kind of definitive diagnosis on the
        underlying cause of Naomi's AMC - neurologists have told us that
        anterior horn cell malformation/death (non-progressive) may be the
        cause, but that there isn't a really good way to confirm this. It
        seems to me that since Naomi has issues with swallowing and her eyes,
        which, to my poor layman's understanding, are above the anterior
        horn, this diagnosis may be incorrect. A geneticist told us that he
        thinks Naomi might have a condition in the spectrum of Freeman
        Sheldon syndrome (Naomi does not have any of the Freeman Sheldon
        facial characteristics, for those who are familiar with that
        syndrome, hence the "spectrum" qualification). He does not think she
        has neurological involvment.

        Naomi's eye problems involve one eye that oscillates a little, while
        the other seems unable to turn away from her nose. As we have been
        told, these problems don't go together and are independent of each
        other. We live in a relatively small place (total population in our
        area is around 500,000), and probably need to seek a second opinion
        from eye doctors in New York or Boston, which are the nearest metro
        areas.

        The problem with Naomi's swallowing is that it is uncoordinated. Some
        of what she swallows pools around her airway. She has a cough
        reflex, so there may not be any aspiration, but it has been a
        concern, so she doesn't get much nutrition orally. Naomi has
        problems with sound production and will likely have speech delays.

        So far, Naomi's social/cognitive development seems to be normal.

        So, for those of you who made it through my dissertation, I'm
        wondering if anyone out there has had experiences with any of these
        issues, and if so, what you did or didn't do, and how it has worked
        out. Also, Naomi just had surgery for vertical talus, and we
        anticipate hip surgery in another six months, so any pointers on
        dealing with that, particularly dealing with 3 months in the spica
        cast, would be appreciated.

        Many thanks!

        [Non-text portions of this message have been removed]
      • Jay and Kim Yancey
        Hey, I checked out your daughter’s blog—she is so cute. My daughter is 6 now—she had clubbed feet, hip contractures, dislocated hips, hands/wrists
        Message 3 of 4 , May 4, 2007
        • 0 Attachment
          Hey,
          I checked out your daughter’s blog—she is so cute. My daughter is 6
          now—she had clubbed feet, hip contractures, dislocated hips,
          hands/wrists contracted, and her left arm didn’t move. Her head was
          also tilted to one side. She now walks independently with ankle
          orthotics and she has full use of her right hand/arm, and she can use
          her left arm, but the left wrist is still contracted so it is weak. She
          had the tendon release on both Achilles tendons at 6 weeks. She had
          serial casting until she was 9 months and then she had club foot
          correction on both feet. She also had hip surgery at 9 months, but it
          was unsuccessful because her hip sockets were too shallow. She later
          had major hip surgery where they reconstructed her pelvis and femur
          bones at 26 months and that surgery was successful. Plan ahead for the
          spica cast by getting a special car seat. Your hospital or orthotics
          store can help you with that. It takes a while to order it, so plan
          ahead. Hopefully your insurance will pay for it. Shriners should be
          able to get one for you. Your daughter won’t fit in a normal car seat
          during this time. A wagon would be helpful also since strollers become
          uncomfortable with the spica. I would definitely get a bean bag for her
          to sit in at home. This way she can lay on her stomach to let the back
          of the spica air dry between changings. I would have a roll of mole
          skin handy also. I used Depends for adults and tucked them into my
          daughter’s spica and then put a diaper on top of that. It’s expensive,
          but worth it. You don’t want to get pee and poop inside that cast.
          The spica cast is annoying, but it so worth it if the surgery is
          successful. If your daughter’s hip sockets are too shallow, then a
          regular hip reduction surgery may not work—prepare yourself mentally for
          that. I was prepared for a failed surgery, but my husband wasn’t and he
          had a very hard time with it.
          Also, I would take your daughter to a hand specialist. My daughter wore
          hand splints from the time she was 5 days old and they worked miracles
          on her little fingers. We went to Seattle Children’s hospital which is
          a wonderful place to go for the arthrogryposis clinic. It’s hard to
          find a good OT that knows how to make hand splints that work. Try to
          find an OT that has experience with making hand splints for kids with
          arthrogryposis—you should be able to find someone good in New York. Du
          Pont Hospital in Delarware has a fantastic arthrogryposis clinic, also.

          I can’t stress enough the importance of seeing a doctor who has
          experience with arthrogryposis. My daughter was diagnosed with so many
          chromosomal and genetic defects by other doctors. Find a good
          arthrogryposis clinic and take your daughter there—it will be worth
          every penny. The Avenues web site has a list of clinics—there may be
          one in your area. You will be so glad you went.
          My personal email address is HYPERLINK
          "mailto:jkyancey@..."jkyancey@... Send me an
          email and I will be more than happy to send photos of my daughter and
          give you a little more detail of what she has over come and how.
          Good luck to your family. You guys are obviously doing a great job of
          staying involved in your daughter’s care and that is the best thing that
          you can do for her.
          Kim and Veronica (age 6 with AMC)


          Hi everyone,

          This is my first post on this board, wich I just began exploring a
          week or two ago. My wife and I have a beautiful 6 month old girl
          with arthrogryposis named Naomi (she has a blog,
          supernaomi.blogspot-.com, if you'd like to check it out). In addition
          to ankle, knee, and hip contractures, and ulnar deviation in her
          hands ("wind vane" or "windmill" hands), she also has dysphagia (for
          which a g-tube was placed when she was a month old) and, as we are
          now learning, some unusual problems with her eyes. I was wondering
          if anyone had any experience with any of this issues and might be
          able to share some insight.

          We haven't really had any kind of definitive diagnosis on the
          underlying cause of Naomi's AMC - neurologists have told us that
          anterior horn cell malformation/-death (non-progressive) may be the
          cause, but that there isn't a really good way to confirm this. It
          seems to me that since Naomi has issues with swallowing and her eyes,
          which, to my poor layman's understanding, are above the anterior
          horn, this diagnosis may be incorrect. A geneticist told us that he
          thinks Naomi might have a condition in the spectrum of Freeman
          Sheldon syndrome (Naomi does not have any of the Freeman Sheldon
          facial characteristics, for those who are familiar with that
          syndrome, hence the "spectrum" qualification)-. He does not think she
          has neurological involvment.

          Naomi's eye problems involve one eye that oscillates a little, while
          the other seems unable to turn away from her nose. As we have been
          told, these problems don't go together and are independent of each
          other. We live in a relatively small place (total population in our
          area is around 500,000), and probably need to seek a second opinion
          from eye doctors in New York or Boston, which are the nearest metro
          areas.

          The problem with Naomi's swallowing is that it is uncoordinated. Some
          of what she swallows pools around her airway. She has a cough
          reflex, so there may not be any aspiration, but it has been a
          concern, so she doesn't get much nutrition orally. Naomi has
          problems with sound production and will likely have speech delays.

          So far, Naomi's social/cognitive development seems to be normal.

          So, for those of you who made it through my dissertation, I'm
          wondering if anyone out there has had experiences with any of these
          issues, and if so, what you did or didn't do, and how it has worked
          out. Also, Naomi just had surgery for vertical talus, and we
          anticipate hip surgery in another six months, so any pointers on
          dealing with that, particularly dealing with 3 months in the spica
          cast, would be appreciated.

          Many thanks!

          [Non-text portions of this message have been removed]


          No virus found in this incoming message.
          Checked by AVG Free Edition.
          Version: 7.5.467 / Virus Database: 269.6.2/787 - Release Date: 5/3/2007
          2:11 PM


          No virus found in this outgoing message.
          Checked by AVG Free Edition.
          Version: 7.5.467 / Virus Database: 269.6.2/787 - Release Date: 5/3/2007
          2:11 PM



          [Non-text portions of this message have been removed]
        • pamipoo128
          Hi, Our son (age 2) has also been diagnosed with a form of Freeman Sheldon and also does not have any of the facial characteristics. He has had a feeding tube
          Message 4 of 4 , May 5, 2007
          • 0 Attachment
            Hi,

            Our son (age 2) has also been diagnosed with a form of Freeman
            Sheldon and also does not have any of the facial characteristics.

            He has had a feeding tube since birth, but has been taking some oral
            feedings of baby food for some time. Liquids still present a
            problem, because of pooling, but seems to be getting better. He had
            not taken a bottle (even though he has the sucking motion, he was
            unsure what to do with the nipple of a bottle), recently he has
            started taking small quantities from a bottle by chewing on the
            nipple and as of yesterday some sucking.

            Feeding has also been a problem due to tracheal malaysia (which has
            required him to have a tracheostomy since 6 weeks of age). He also
            has paralysis of one side of his diaphram. We hope to have his trach
            removed in 6 months if his malaysia continues to improve. He wears a
            passimur valve most of the time which helps with the feeding and
            talking. He says some words (not real clear), but is real good at
            animal sounds.

            He also has severe torticolis and some mis-shaping of his cranium due
            to his torticolis. His one eye tends to cross with because of the
            eye sockets not being formed properly. A pediatric opthomologist at
            Riley Hospital in Indianapolis has fitted him with glasses to help
            with his focusing on items up close to help. He has informed us he
            may have to have several surgeries to correct the shape of his eye
            sockets.

            He receives PT for 60 minutes twice weekly, OT for 60 minutes twice
            weekly, ST for 60 minutes twice a month, and DT for 60 minutes twice
            monthly. He has contractures of both wrists, limited shoulder
            movement, limited movement of one leg, and is just beginning to do
            some weight bearing. We also put him in our whirlpool tub as much as
            possible to help him relax (he moves his arms much more freely when
            in the tub).

            The best advice we can give you is be patient, it takes time for
            improvements. We have seen changes daily, some small and some
            large. If you would like you can check out his website at
            http://www.geocities.com/drews_world050105/ unfortunately we have not
            had time to update it recently, but hope to soon.

            We have been trying to get approved for Shriner's to aid us in our
            quest, but have not been very successfuly as of yet. If you can find
            a sponser who is aggresive you may have more luck.

            You can e-mail us directly with any questions.

            Larr, Pam & Drew Smith
            --- In avenues2@yahoogroups.com, "simcoet" <simcoet@...> wrote:
            >
            > Hi everyone,
            >
            > This is my first post on this board, wich I just began exploring a
            > week or two ago. My wife and I have a beautiful 6 month old girl
            > with arthrogryposis named Naomi (she has a blog,
            > supernaomi.blogspot.com, if you'd like to check it out). In
            addition
            > to ankle, knee, and hip contractures, and ulnar deviation in her
            > hands ("wind vane" or "windmill" hands), she also has dysphagia
            (for
            > which a g-tube was placed when she was a month old) and, as we are
            > now learning, some unusual problems with her eyes. I was wondering
            > if anyone had any experience with any of this issues and might be
            > able to share some insight.
            >
            > We haven't really had any kind of definitive diagnosis on the
            > underlying cause of Naomi's AMC - neurologists have told us that
            > anterior horn cell malformation/death (non-progressive) may be the
            > cause, but that there isn't a really good way to confirm this. It
            > seems to me that since Naomi has issues with swallowing and her
            eyes,
            > which, to my poor layman's understanding, are above the anterior
            > horn, this diagnosis may be incorrect. A geneticist told us that
            he
            > thinks Naomi might have a condition in the spectrum of Freeman
            > Sheldon syndrome (Naomi does not have any of the Freeman Sheldon
            > facial characteristics, for those who are familiar with that
            > syndrome, hence the "spectrum" qualification). He does not think
            she
            > has neurological involvment.
            >
            > Naomi's eye problems involve one eye that oscillates a little,
            while
            > the other seems unable to turn away from her nose. As we have been
            > told, these problems don't go together and are independent of each
            > other. We live in a relatively small place (total population in
            our
            > area is around 500,000), and probably need to seek a second opinion
            > from eye doctors in New York or Boston, which are the nearest metro
            > areas.
            >
            > The problem with Naomi's swallowing is that it is uncoordinated.
            Some
            > of what she swallows pools around her airway. She has a cough
            > reflex, so there may not be any aspiration, but it has been a
            > concern, so she doesn't get much nutrition orally. Naomi has
            > problems with sound production and will likely have speech
            delays.
            >
            > So far, Naomi's social/cognitive development seems to be normal.
            >
            > So, for those of you who made it through my dissertation, I'm
            > wondering if anyone out there has had experiences with any of these
            > issues, and if so, what you did or didn't do, and how it has worked
            > out. Also, Naomi just had surgery for vertical talus, and we
            > anticipate hip surgery in another six months, so any pointers on
            > dealing with that, particularly dealing with 3 months in the spica
            > cast, would be appreciated.
            >
            > Many thanks!
            >
          Your message has been successfully submitted and would be delivered to recipients shortly.