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← Ginny Foos: More About Achondroplasia

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Showing Revision 1 created 10/10/2013 by Cogi-Admin.

  1. luckily, I grew up in a very educated community. You know,
  2. 30 minutes away from MIT, Harvard, you know, all of the Ivy Leagues in Boston.
  3. and I think that's, that speaks a lot to
  4. kids and their value, not value system, but their manners and so forth.
  5. >> Sure.
  6. >> So, I don't remember
  7. getting teased too much. I'm sure I did and how much of
  8. that I have sort of put under the surface and forgotten about.
  9. >> Uh-huh.
  10. >> but I, I don't, I have a tougher
  11. time even today when I'm in an inner city environment
  12. where my, the people surrounding me don't have the same
  13. etiquette and don't have the same education, the same exposure.
  14. >> Mm-hm.
  15. >> And that's really where I struggle more
  16. than where I grew up, in a suburb of Boston.
  17. >> well to get a bit more of that sort of educated thought and idea I want you
  18. to tell us you know, as a medical condition of, of dwarfism what is,
  19. what do you know is the cause of
  20. shorter stature and in particular, in your case,
  21. what is the what is the cause of, of this? Well, remember, there are over 200
  22. different types of dwarfism, achondroplasia being the most common. So,
  23. if you were to meet another little person in your
  24. life, most likely they'll have achondroplasia. So I can only
  25. really speak to achondroplasia. it is a dominant gene. It is
  26. also a mutation. So, what that means is, an individual
  27. can have achondroplasia for two reasons. One would be their
  28. parents have it and it's been inherited as it was
  29. with my children. The other would be it's a genetic mutation
  30. which is a complete unexplained event which is what
  31. it was for me. I, I am the only
  32. little person in my family. My little brother is
  33. six three. and my parents, my grandfather was a
  34. genealogist. So, you can imagine he spent a lot
  35. of time looking into this. and I am the
  36. only dwarf in my family origin. But, I then
  37. went on to meet my husband who also has achondroplasia,
  38. we got married, and we have three children. I gave birth to two of them and
  39. I flew to Moscow for the third one,
  40. to adopt from an orphanage. who also has achondroplasia
  41. but clearly not from me or my husband. she, from all we know, which is really
  42. not much is a mutation as well, her
  43. parents were average height. And I suspect, in Russia
  44. it, it's a lot harder to be a little person. I have
  45. two children that I gave birth to, one in August of 1992, the other in November
  46. of 1997. The gene was discovered in 1994 or five. So, that
  47. meant that my pregnancies were very, very different. In 1992,
  48. the only diagnostic tool that they could use was ultrasound and again,
  49. they were looking at the femur in the fetus and they could not measure that
  50. accurately until I was 24 weeks pregnant. So, at that time, they told me, and I
  51. was actually being seen by the gentleman that
  52. wrote the birth, the growth charts for fetuses
  53. at UCSF and he was the one reading
  54. my film, my, my measurements from the ultrasound.
  55. >> Mm-hm, mm-hm.
  56. >> And he said, Jenny, this is a tough one. He said, that
  57. femur is in the 7th percentile. And
  58. typically if we're looking at a hetero-zygote.
  59. >> Mm-hm.
  60. >> Meaning that the embryo, fetus, has gotten
  61. the gene from one of you, that femur's going to
  62. be over the 10th percentile. Right around between
  63. the 10th and the 20th or 30th or something.
  64. >> Mm-hm.
  65. >> and you're coming in at the 7th and that makes us very
  66. concerned that perhaps you're carrying a homo-zygote. And
  67. a homo-zygote, what that means on, in, in
  68. lay terms is a double dominant and in
  69. achondroplasia they have found that to be lethal. The
  70. baby is born and lives no more than a week. Typically, more a matter of hours
  71. without life support. So, it was a really
  72. tough call. So, we went ahead and, and went
  73. with what we thought was right and Alex
  74. was born and obviously he's still with us, he's
  75. 20 years old. So, he must be a hetero-zygote
  76. although he has had a lot of medical issues.
  77. >> hm.
  78. >> jump ahead five years later and in between that, by
  79. the way, I'd flew to Moscow to adopt a second child.
  80. >> hm.
  81. >> I'm pregnant again with our now 15 year
  82. old and I have an amniocentesis at ten weeks.
  83. And within a week, I get a phone call
  84. from a genetic counselor at Bailey University in Texas telling
  85. me, you have a hetero-zygote, 100% certainty. So, you can
  86. imagine the difference in the stress involved around both pregnancies.
  87. >> Absolutely.
  88. >> I knew what my odds were when I was
  89. ten years old and babysitting and knew that I wanted
  90. to have children and I wanted to be a teacher.
  91. I, did that influence my selection of mates? Did I
  92. say to myself oh, I'd better not find
  93. a, I'd better not fall in love with another
  94. achondroplastic because we have a 25% chance of having
  95. a homo-zygote? Absolutely not. Do I ache for my
  96. boys, who will most likely by mere fact
  97. of numbers, will wind up with achondroplastic women and
  98. this will be on the table? Do I ache
  99. for them, before they're are even, you know, really
  100. dating?
  101. >> Mm hmm.
  102. >> Absolutely, I ache for them.