I just stumbled on this post again and thought people might appreciate some more information.
I have elevated tryptase, and tested positive to HATS gene duplication via participation in NIH study. My daughter has also tested positive to high tryptase and is currently organising genetic testing. Interestingly my sister (who also has ME/CFS) did not have elevated tryptase, so does not have HATS.
23 and me can not help in identifying the HATS gene problem as it identifies SNPs. The HATS genetic change is not a SNP but rather extra copies of a gene (TPSAB1).
There is no point doing the gene test unless baseline tryptase is higher than 8 - 10 (when not in a reaction).
The Mastocytosis Society has produced this graphic that is useful in trying to visualise where HATS fits in to Mast Cell Disease categories. However it may change as more is learned - and there’s a lot to learn.
I have been thinking and searching for the genetic part of this for 20 years. Have you read Jennifer Brea’s blogs at Medium.com? She was severe, but is now in virtually total remission of symptoms following surgery for craniocervical instability and tethered spinal cord. Believe it or not, I am the one who brought ‘tethered cord ‘ to the table of discussion back in 2002-2003. Had an appt. with one of the World expert neurosurgeons after a back X-ray ( chiropractor) revealed spina bifida occulta. Did extensive reading in research literature, Long story.
Had a CINE MRI flow study with another neurosurgeon expert- very abnormal, plus small posterior fossa, steep angle Of the tentorium, short Clivus - all similar to Chiari, but no tonsillar herniation. My symptoms began after neck/ pelvis trauma, but Jennifer’s began after a viral illness.
Considering that Ehlers Danlos people have high rates of ME\ CFS/ FMS and Chiari type issues, seems likely that the genetic part may hVe to do with connective tissue differences and/ or CNS structural differences. ( biologist here - led support group 13 years).
There may be higher rates of left handed ness in our group - in the individuals or families. Interesting that the corpus callosum is very different ( larger) in left handed people. Are there other brain differences? Suspect there are differences in pelvic structure or instability due to connective tissue issues. Also, possible off midline fusion of the filum and dura at S2? Creates a torque in dural tube ? A fetal malrotation of the gut? ( This occurs early 6-8 weeks fetus - just as dural tube is forming)
There are a bunch of structural differences to look for : scoliosis, cervical, small sacral/ cervical foramina, feet differences - high arches, big bunions, hammer toes, one side of face slightly smaller, high arched palate, deviated septum, sometimes heart/ kidney things, and ??
So, maybe the genes involved are those controlling symmetry ? Connective tissue ? Or ?
Great that you are here thinking about this. Always appreciate comment.
@Wastwater This empty sella syndrome is shared with Chiari people too. Conquer Chiari is a good site. It seems that the pituitary is fine, but the structure of the sphenoid bone ( where the pituitary sits) May be shallow or structurally different. I have a small posterior fossa, short clivus, steep angle of the tentorium - all shared with Chiari, but no true herniation of cerebellar tonsils - Chiari O.
I did okay with these structural differences until I had a neck injury. Bed ridden one year - no one knew what was wrong.
Also appreciate that there is a sophisticated craniosacral pump - a minute rhythmic movement between the occiput and sacrum that pumps spinal fluid against gravity. Other pelvic bones and cranial bones also participate. - the tail bone and sphenoid bone reciprocate with each other. And, the occiput movement influences the sphenoid movement as well. When the pump is out of kilter spinal fluid pressures are affected.
I think Jennifer Brea is a good resource. A traditional osteopath may be able to help you? I hav3 not had surgery - am 70 years old, and there is no guarantee on these surgeries. Jerry Hesch, doctorate of physical therapy, is a master at complex misalignments of the pelvis, neck, spine.
In Colorado. What a journey! Lots of valuable info at this site - and good people.