LIVING WITH LARSEN SYNDROME
PART TWO
About My Larsen Syndrome
About My Larsen Syndrome
WRITTEN BY :
TAWNY MULLINS
I was born on June 29th, 1977. Now at this time the doctors were unsure of what I was actually born with and even in today's time very few doctors have actually heard of this rare disorder. I would later be diagnosed with LRS ( Larsen Syndrome at the age of five years (1982). But there have been many of people with LS that have gone undiagnosed for years, even well into their adulthood. Some even reaching their 30's and 40's before ever finding out what they have.
When I was born, my hyper-extended the wrong way with my feet upon my shoulders. I was born with dislocated knees, hips, and elbows. My kneecaps are extremely smaller than what they are supposed to be. I am also doubled jointed in my elbows so this causes them not to straighten out all the way and it keep my wrists my turning to the inside like they should. I was born without the ball and socket joint system that allows you to bend, so I have metal plates, rods, and pins holding them together. Of course, this is not all that is wrong with me.
Here is a list of what symptoms I have:
1. inward and / or upward turning feet
also known as being club-footed
2. dislocations of the hips
3. anterior dislocation of the knees
4. dislocation of the elbows
5. small extra bones in the wrists
6. small extra bones in the ankles
7. tips of their fingers, especially their thumbs,
are typically blunt and have a square shape to them
8. unusually large range of joint movement called Hypermobility (used to until all of my surgeries) 9. short stature
10. abnormal curvature to their spine called Scoliosis.
11. prominent forehead
12. flattening of the bridge in their nose
13. flattening of the middle of their face
14. wide set eyes
15. high Cleft Palate
16. have hearing loss
17. Sleep Apnea
18. frequent respiratory infections
19. frequent ear infections.
20. connective tissue disorder
21. mitral valve regurgitation
22. tricuspid valve regurgitation
26. pulmonary semilunar valve regurgitation
27. short metacarpals
28. abnormalities of spinal segmentation
29. short terminal phalanges
30. abnormal vertebrae
31. acid reflux
32. gastorial reflux
33. burr holes
34. stomach problems
35. intestinal problems
36. learning disabilities (ADHD, Dyslexia)
37. short nails
38. multiple carpal ossification center
39. wedged vertebrae
40. delayed ability to walk
41. webbed toes (2nd and 3rd toes)
42. elasticity in the skin
43. elasticity of the muscles
44. elasticity of the nerves
45. elasticity of the tendons
46. elasticity of the ligaments
47. seizures
48. problems with anesthesia
49. heart murmur
50. COPD
51. arrhythmia
52. bronchial asthma
53. high hernia (which is actually not related to LS)
54. anxiety (not related to LS)
55. OCD (here again not related to LS)
56. migraines ( nope not related)
57. RLS (restless leg syndrome and here again not related)
58. arthritis
59. carpal tunnel
60. tendonitis
Now I have 55 out of 86+ of the LRS symptoms, but let me reintegrate that any one of these can very well stand alone.
Okay, now back to the story. My very first surgery was when I was only 11 days old at St. Vincent's Hospital in Arkansas. After this surgery my grandmother was approached by some members of the Shriner's Hospital for Children out of Shreveport, Louisiana by Dr. McCall. They then took over my surgeries from that point on. I would come to have 17 surgeries between my hips and knees. My last one being when I was 5 years old.
Now when I was diagnosed with LRS, at the age of five, Shriner's put my mother in touch with Dr. Larsen in California, (the one who actually named the disease). Who then told us what I have and that I was the 8th one in the United States and the 46th in the world reported with LRS. We stayed in touch with him and received monthly updates on his studies of Larsen's until he died. To this day, I still retain a lot of the information that he sent to my mother.
Originally, when they diagnosed me, that LRS patients were lucky to make it past the age of three. They also told us what symptoms of LRS that we were born with is what we have. [which has been proven to be wrong, some of the other symptoms don't start showing up until you are older. They have found out in recent years that LRS actually gets worse the older you get. Like for instance; the aorta rupturing / tearing after the age of 25.] We were told at the time that in order to get Larsen's you had to have a European background and either one parent had to carry the dominant gene or both parents had to carry the recessive gene. They also said that with me having, what they thought was the dominant gene, (since there was no test back then to check for it, nor did they know exactly where to even look on the DNA strand to find it), that I had a 50/50 % chance of my children having LRS. But they said if I had only gotten the recessive gene then it would have been a 25 % of my children having it. But that the recessive gene can be passed down several generations before it became dominant again.
I was born on June 29th, 1977. Now at this time the doctors were unsure of what I was actually born with and even in today's time very few doctors have actually heard of this rare disorder. I would later be diagnosed with LRS ( Larsen Syndrome at the age of five years (1982). But there have been many of people with LS that have gone undiagnosed for years, even well into their adulthood. Some even reaching their 30's and 40's before ever finding out what they have.
When I was born, my hyper-extended the wrong way with my feet upon my shoulders. I was born with dislocated knees, hips, and elbows. My kneecaps are extremely smaller than what they are supposed to be. I am also doubled jointed in my elbows so this causes them not to straighten out all the way and it keep my wrists my turning to the inside like they should. I was born without the ball and socket joint system that allows you to bend, so I have metal plates, rods, and pins holding them together. Of course, this is not all that is wrong with me.
Here is a list of what symptoms I have:
1. inward and / or upward turning feet
also known as being club-footed
2. dislocations of the hips
3. anterior dislocation of the knees
4. dislocation of the elbows
5. small extra bones in the wrists
6. small extra bones in the ankles
7. tips of their fingers, especially their thumbs,
are typically blunt and have a square shape to them
8. unusually large range of joint movement called Hypermobility (used to until all of my surgeries) 9. short stature
10. abnormal curvature to their spine called Scoliosis.
11. prominent forehead
12. flattening of the bridge in their nose
13. flattening of the middle of their face
14. wide set eyes
15. high Cleft Palate
16. have hearing loss
17. Sleep Apnea
18. frequent respiratory infections
19. frequent ear infections.
20. connective tissue disorder
21. mitral valve regurgitation
22. tricuspid valve regurgitation
26. pulmonary semilunar valve regurgitation
27. short metacarpals
28. abnormalities of spinal segmentation
29. short terminal phalanges
30. abnormal vertebrae
31. acid reflux
32. gastorial reflux
33. burr holes
34. stomach problems
35. intestinal problems
36. learning disabilities (ADHD, Dyslexia)
37. short nails
38. multiple carpal ossification center
39. wedged vertebrae
40. delayed ability to walk
41. webbed toes (2nd and 3rd toes)
42. elasticity in the skin
43. elasticity of the muscles
44. elasticity of the nerves
45. elasticity of the tendons
46. elasticity of the ligaments
47. seizures
48. problems with anesthesia
49. heart murmur
50. COPD
51. arrhythmia
52. bronchial asthma
53. high hernia (which is actually not related to LS)
54. anxiety (not related to LS)
55. OCD (here again not related to LS)
56. migraines ( nope not related)
57. RLS (restless leg syndrome and here again not related)
58. arthritis
59. carpal tunnel
60. tendonitis
Now I have 55 out of 86+ of the LRS symptoms, but let me reintegrate that any one of these can very well stand alone.
Okay, now back to the story. My very first surgery was when I was only 11 days old at St. Vincent's Hospital in Arkansas. After this surgery my grandmother was approached by some members of the Shriner's Hospital for Children out of Shreveport, Louisiana by Dr. McCall. They then took over my surgeries from that point on. I would come to have 17 surgeries between my hips and knees. My last one being when I was 5 years old.
Now when I was diagnosed with LRS, at the age of five, Shriner's put my mother in touch with Dr. Larsen in California, (the one who actually named the disease). Who then told us what I have and that I was the 8th one in the United States and the 46th in the world reported with LRS. We stayed in touch with him and received monthly updates on his studies of Larsen's until he died. To this day, I still retain a lot of the information that he sent to my mother.
Originally, when they diagnosed me, that LRS patients were lucky to make it past the age of three. They also told us what symptoms of LRS that we were born with is what we have. [which has been proven to be wrong, some of the other symptoms don't start showing up until you are older. They have found out in recent years that LRS actually gets worse the older you get. Like for instance; the aorta rupturing / tearing after the age of 25.] We were told at the time that in order to get Larsen's you had to have a European background and either one parent had to carry the dominant gene or both parents had to carry the recessive gene. They also said that with me having, what they thought was the dominant gene, (since there was no test back then to check for it, nor did they know exactly where to even look on the DNA strand to find it), that I had a 50/50 % chance of my children having LRS. But they said if I had only gotten the recessive gene then it would have been a 25 % of my children having it. But that the recessive gene can be passed down several generations before it became dominant again.
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