Spina Bifida

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Spina Bifida

• A spinal disorder

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Where this disorder occurs on a karyotype

• This is an autosomal disorder meaning that this
  is a random mutation.
• It is called 8Q deletion. The error in the
  karyotype occurs on the 8th chromosome.
• This error is a deletion of the 8th arm.

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Karyotype

• The cause of spina bifida is not known. It is
  believed that a combination of genetic,
  environmental, and nutritional factors play a
  role in the development of spina bifida.
• It is found on the 8th chromosome with the arm
  deleted.
• No picture of this karyotype/ pedigree was
  available.

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Types of Spina Bifida

• There are three types of spina bifida.
• The mildest form of spina bifida is spina bifida
  occulta, is usually caused by a malformed
  vertebra (spinal bones) that is covered with
  skin. Children with spina bifida occulta will
  have no symptoms and live completely normal
  lives.
• Meningocele is when the spinal cord develops
  normally, but the membranes that cover the brain
  and spinal cord (called the meninges) sticks out
  from a opening in the spine.
• Myelomeningocele is the most severe type of spina
  bifida in which the meninges and the spinal cord
  will not develop properly and can stick out of
  the open lesion.

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Questions Most Asked
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How does Spina Bifida affect People?

• Spina bifida occurs when the babys spinal column
  fails to secure during the primary month of
  pregnancy. This damages nerves and muscles that
  are vital for common activity.

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Effects on the Spinal Cord

• Spina bifida can affect many body systems
  including the nervous system, the bones and
  muscles, as well as the kidneys and bladder. The
  point along the spinal cord where the undeveloped
  area occurs, is called the "level" of the spina
  bifida. The higher up the spinal column the
  "level" occurs, the greater the effect on normal
  nerve function.
• http//www.spinabifidamoms.com/english/about.html
  

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http//www.nlm.nih.gov/medlineplus/ency/imagepages
/19086.htm
http//neurosurgery.seattlechildrens.org/condition
s_treated/myelomeningocele.asp
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Effects on the Brain

• Many people with spina bifida will have changes
  in the development of their brain. With spina
  bifida, the brain is usually positioned further
  down into the upper spinal column than it should
  be.

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Is Spina Bifida Inherited?

• No. Spina Bifida is a random mutation meaning
  that this trait is not inherited.
• But there is still a small chance

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If someone has Spina Bifida will their child have
it too?

• If a woman has a child with spina bifida there is
  a 4 chance she will have another child with
  spina bifida.
• Also, if the mother has spina bifida, there is a
  4 chance that her child will have it.

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Then how do you get Spina Bifida?

• One of the most common causes of Spina Bifida is
  a lack of folic acid.
• folic acid in prenatal vitamins taken daily
  prior to conception and during pregnancy can
  reduce these defects by up to 70 (Michelle
  Tauber, 121).

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Folic Acid

• Folic acid is found in certain cereals, grains,
  broccoli, spinach, and many other green
  vegetables. Citrus fruits and vitamin supplements
  are also sources of folic acid.

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How will Folic Acid Help?

• By consuming folic acid your chance of your baby
  having Spina Bifida decreases by 50.
• But after you are aware that you are pregnant it
  is too late to use folic acid to try and reduce
  the chances of Spina Bifida.
• To be able to use folic acid as prevention you
  will need to take it before and during the first
  month of pregnancy.
• Women that are planning their pregnancy should
  take vitamin supplements daily.

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How Common is Spina Bifida?

• The percentages in
• African Americans 1 out of 3,000 births
• Caucasians (especially those of European
  descent) 1 out of 700 births
• in Great Britain 1 out of 100 births
• in the United States 7 out of 10,000 live
  births
• Hispanic women have the highest risk of having a
  child with spina bifida
• Asians/Islanders have the lowest risk of having
  a child with spina bifida.

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How is Spina Bifida diagnosed?

• Spina Bifida is diagnosed during pregnancy with a
  high resolution ultrasound.
• AFP Test - This tests the mother for high levels
  of alpho-feto protein.

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Are there any other symptoms than just a spine
defect?

• Other symptoms may include
• Obesity
• Uncontrolled bladder
• Paralysis
• Weakness in legs
• Depression and anxiety
• Latex allergy

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Is there a treatment?

• There isn't a treatment that can make the
  effects of Spina Bifida disappear but these
  treatments lessen the symptoms.
• Doctors close the gap in the spinal column
• There is an insertion of a catheter
• And a installation of a drainage tube in the
  brain to relieve fluid pressure.

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http//intensivecare.hsnet.nsw.gov.au/five/htm/suc
tion.php
http//www.cancerhelp.org.uk/help/default_printer_
friend.asp?page5320
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Will my child have an abnormal life span?

• No, with Spina Bifida a normal life span is
  expected.

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What sort of Genetic Counseling would I receive?

• At a Genetic Counselor people would most likely
  get information about the child's
• Bladder control, if the child would need surgery
  or if they could grow out this problem
• Leg weakness, if the child would need a walker,
  wheelchair, or any other means of support.
• Any sort of physical or mental problems that
  could affect the child later.

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www.campspifida.org/html/contact.html
www.sbail.org/

http//www.cdc.gov/ncbddd/folicacid/spinabifidabas
ics.htm
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Current Research
                                                                                             

• Researchers from the University of Washington
  (UW), Seattle Childrens Hospital and Regional
  Medical Center, and Washington State University
  Vancouver are studying soreness, drowsiness and
  quality of life in children with chronic health
  conditions, including spina bifida.
• The Duke Center for Human Genetics is currently
  testing families in which one or more family
  members have any type of neural tube defect,
  including spina bifida. The goal of the study is
  to discover the genetic and biological causes of
  spina bifida, which will most likely lead to
  better understanding of spina bifida, greater
  prevention, or even a cure.

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Interview with Carrie King Morrison

• Escrow Officer
• Houston Title Company
• 777 Post Oak Blvd 100
• Houston, TX 77056
• 713.626.9220 main
• 713.552.7314 direct
• 713.621.9115 fax

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Questions and Answers

• 1) How did the doctor diagnose Maddie?
• We took Maddie to a new doctor because she had
  potty training issue. She, at age 5, had never
  been potty trained. Her previous doctor said
  some children just take longer. Her new doctor
  at her first appointment saw the birth mark on
  her lower back and along with her leg issues,
  immediately, same day, sent her for an X-ray.
• 2) Has anyone in your family on both sides
  ever been diagnosed with spina bifida?
• No
• 3) What are the doctors planning to do for
  Maddie's surgery? Is it just one or several
  operations?
• We are in the testing phases, our next step after
  an MRI and meeting with a Neurosurgeon and
  Urologist is to have a urinary ultrasound. That
  will be followed by a VERY invasive test. This
  test will include a catheter in both her urinary
  tract and her anal tract. This will tell us if we
  need to have surgery on her spine. What we have
  been told is they will go in and cut the bottom
  part of her spine to match the rest of it. Per
  her MRI the lower portion of her spine is about
  1/2 inch longer that the rest of it. This
  portion is the part that has not formed properly
  and is causing her issues. This is not an easy
  surgery and she will be in the hospital for 4 to
  5 days. At this point the Neurologist and
  Urologist are arguing about the coarse of action
  we take with Maddie. The Neurologist wants to do
  surgery right away and the Urologist wants to do
  these tests. We have opted to do the test to
  make sure the surgery is the best way to go for
  Maddie. At this point we watch her all the time.
  She is still in pull ups and desperately wants to
  wear panties like her older sister. We are
  getting there!
• 4) Why do you think it took so long for the
  doctors to diagnose Maddie?
• We have no idea. She was in the Neonatal
  Intensive Care Unit (NICU) for 27 days at birth
  and had every test she could have had. She was 3
  1/2 pounds at birth and went down to under 3
  pounds. She was on oxygen for two weeks and
  fighting. It should have been found at birth and
  we are questioning why it was not.
• 5) When you were expecting and had your
  ultrasounds done did the doctors find anything
  abnormal?
• Madeline was 9 weeks premature, I had every test
  in the book, I thought. It was not diagnosed.
  She looked great throughout gestation, however I
  was on bed rest for the last few months of
  pregnancy.

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More Questions and Answers

• 6) Is Maddie on a special diet?
• We watch what she eats, but nothing too special.
  We try not to give her too many fruits or sugar.
  No fast food, nothing that might constipate or
  irritate her system. She is taking Maalox twice
  a day to help her bowel problems and get her
  ready for her ultrasound.
• 7) Does she have to take any medication?
• Just the Maalox right now. Although she takes
  Childrens Tylenol for her headaches which are
  fairly regular.
• 8) What symptoms of Spina Bifida does Maddie
  have?
• Her legs get tired, she has headaches, and her
  bathroom issues. We are very lucky considering
  what could be!
• 9) How do you not allow Spina Bifida take
  over Maddie's childhood?
• We encourage her to do what ever she wants to
  do. We make sure we have a change of clothes and
  don't get upset when she has a problem with the
  bathroom. It is a delicate balance but we try
  really hard. We take a wagon with us most places
  in case she has a problem walking or we will
  carry her.
• 10) How do you lift her spirit?
• We work with her and let her know that she is not
  the only one that has these problems. We sit
  with her in the bathroom so she is not alone and
  read books, she usually has to sit in there to
  "relax" about 20 minutes in the morning and 20
  minutes twice a night. We make sure she knows
  that we are trying to help her and the Doctors
  and Mommy, Jeffo, Daddy, and Isabel are all there
  and will always be there for her.

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Works Cited

• Tauber, Michelle. Sophies Gift. 19 January
  2009. People Magazine
• Spina Bifida. 21 January 2009.
  www.betterheath.vic.gov.au/bhcv2/bhcarticles.hsf/p
  spages/ps_spinabifida?open .
• Definition and Description. 16 January 2009.
  http//www.faqs.org/health/sick-VY/Spina-Bifida.ht
  ml .
• Sophies Voice Foundation. 16 January 2009.
  http//sophiesvoicefoundation.com/ .
• Spina Bifida. 16 January 2009.
  http//www.healthscout.com/ency/68/596/main.html
• Spina Bifida Association. 16 January 2009.
  ltSpinaBifidaAssociationgt. http//www.spinabifidaas
  sociation.org
• Spina Bifida Moms. 23 January 2009.
  http//spinabifidamoms.com/English/about.html
• Spina Bifida-Topic Overview. 23 January 2009.
  http//children.webmd.com/tc/spina-bifida-topic-ov
  erview .
• Right Health. http//www.righthealth.com/topic/S
  pina_Bifida_Chromosomes/overview/fNaturalStandard?
  fdidcondition_spinabifida.xmlsectionSummary

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Websites for the picturesalso located under the
picture

• www.sbail.org/
• www.campspifida.org/html/contact.html
• http//www.cdc.gov/ncbddd/folicacid/spinabifidaba
  sics.htm
• http//intensivecare.hsnet.nsw.gov.au/five/htm/su
  ction.php
• http//www.cancerhelp.org.uk/help/default_printer
  _friend.asp?page5320
• http//www.lifecharity.org.uk/caring/health/folic
  acid
• http//www.all-creatures.org/health/folicacid.htm
  l
• http//www.nlm.nih.gov/medlineplus/ency/imagepage
  s/19086.htm
• http//neurosurgery.seattlechildrens.org/condition
  s_treated/myelomeningocele.asp