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Lisa Kessler, MS, CGC  
Female

Specialties: Hereditary Disorders, hemochromatosis


DNA Direct
My Posts
Genetician consultation to diagnose EDS type III?
Jun 02, 2008 in the Genetic Disorders Expert Forum
Given the concerns that you have raised about your features, you may benefit from seeing a geneticist regarding EDS. A geneticist can do a thorough exam, and review family history information in order to make a diagnosis of EDS. You are correct that there is not a genetic test clinically available to make this diagnosis. As you know, Ehler-Danlos syn...
FALS PROGRESSION
May 23, 2008 in the Genetic Disorders Expert Forum
As you may know, approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial (FALS). As you know, ALS is a neurodegenerative disorder in which motor neurons (nerve cells that communicate to muscle cells) in the brain, brainstem, and spinal cord die. This causes paralysis and death. ALS usually begins in middle adult life, and the lifetime r...
Neurofibromatosis
May 22, 2008 in the Genetic Disorders Expert Forum
As you have learned, Neurofibromatosis type 1 (NF1), is a genetic condition that is characterized by very specific findings. People with NF1 have several café au lait spots (brown spots on the skin with regular boarders), freckles under the arms or in the inguinal area, multiple neurofibromas, and lisch nodules of the iris (which you refer to as “eye freckle...
marfan syndrome
May 22, 2008 in the Genetic Disorders Expert Forum
In contrast, sometimes someone is the first person in the family to be diagnosed with Marfan syndrome. In this scenario, the person has Marfan syndrome as a result of a “new mutation” in the FBN1 gene. There is evidence that older fathers have an increased risk to have children with specific conditions including Marfan syndrome. This risk has to do with an...
Carnitine Palmitoyl Transferase Deficiency Type II
May 22, 2008 in the Genetic Disorders Expert Forum
Thank you for your question. I hope that the following information about Carnitine palmitoyltransferase II (CPT II) deficiency is helpful to you. CPT II is a metabolic condition that can run in the family. The diagnosis is often made in young adults, and the symptoms include recurrent episodes of rhabdomyolysis (breakdown of muscle fibers). This muscle...
Marfans
May 07, 2008 in the Genetic Disorders Expert Forum
It is important to have a complete exam specific for Marfan syndrome to completely rule out or diagnose the condition. A medical geneticist would be the appropriate type of physician to perform a complete exam, so it is good to hear that you will be seeing a geneticist. As you know, Marfan syndrome is a connective tissue disorder that affects many pa...
epilepsy and genetics??
May 05, 2008 in the Genetic Disorders Expert Forum
I am sorry that your young niece is going through so much. It may help for your sister to request a copy of the genetic testing report that was performed on her daughter. In order to learn more about what having this gene change means for your niece, it may help her to meet with a genetic counselor and pediatric geneticist. A geneticist can be found throu...
EDS
May 05, 2008 in the Genetic Disorders Expert Forum
Given the concerns that you have raised about your features, you both may benefit from seeing a geneticist regarding EDS. A geneticist can do a thorough exam, and review family history information in order to make a diagnosis of EDS. As you know, Ehler-Danlos syndrome (EDS) is a group of disorders that affect the connective tissue. There are many diffe...
connective tissue disorder?
May 05, 2008 in the Genetic Disorders Expert Forum
It sounds like you have gone through a great deal, and I hope that the following information is helpful. As you know, an arterial dissection is a splitting or tearing of the layers of the arterial wall. There are different explanations for why some people have arterial dissections, but much of the time the cause is not known. Some research has shown a corr...
BRAC2
Apr 25, 2008 in the Genetic Disorders Expert Forum
It sounds like you are going through a great deal. Interpreting genetic test results is complex, and you may benefit from meeting with a genetic counselor who can help you understand the meaning of the BRCA1/2 test results. It may help to obtain a copy of the actual lab result to share with a genetic counselor. As you know BRCA1 and BRCA2 are two genes ...