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We have results back from Danae's genome sequencing that point to avenues of inquiry for her health issues. This was the primary goal of getting her genome sequenced so that's a positive outcome. A few things that connect here:
First, she learned that she is lactose intolerant. This is something she had suspected for some time, but had not confirmed. It's a hard thing to face when you love cheese as much as we both do!
Second, she has a genetic variant called HLA-DRB1*1501. This variant puts her at increased risk for multiple sclerosis.
There is a connection here to her vitamin D deficiency. A few years prior to moving to Amsterdam, her vitamin D tested dangerously low. Her doctor prescribed a regimen of prescription vitamins to raise the level to normal. Looking at her records, a doctor in the Netherlands advised her that, if her D levels were that low, she would most likely need to be on vitamin D supplements for the rest of her life. She began taking vitamin D again, but her levels may have been extremely low again prior to that.
Of relevance here: one potential result of prolonged consumption of dairy for people who are lactose intolerant is damage to the microvilli in the digestive system in ways that make it harder for them to metabolize certain nutrients. Like vitamin D.
Here is the connection: the expression of the genetic variant that makes her susceptible to MS is mediated by vitamin D levels. So the longer she has low levels of vitamin D, the more likely she is to develop MS, or have it progress.
She has symptoms consistent with MS. The ENT she recently saw told her that her reactions to his exam were very abnormal and likely related to central nervous system dysfunction, which is what MS is. She got a referral from the ENT to a neurologist at the time she saw him, but now that referral seems more important, as doing diagnostics for MS seems called for. She's also going to talk to her GP about getting her D levels checked again.
So it's really good to have more information to go on. At the same time, as she wrote in her post on this topic, MS does permanent damage. If that's the cause of the chronic pain that's been seriously affecting her daily activities, then this is likely her new normal. Hopefully a diagnosis and treatment could at least address her symptoms in better ways than we've been able to and prevent or slow progression of the MS as much as possible.
Neither of us have expertise in these matters, obviously. But we hope that doctors will take a look at these results and take them seriously enough to take some action to confirm or reject them.
---
One paper on the topic of the connection between vitamin D and multiple sclerosis:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882222/
First, she learned that she is lactose intolerant. This is something she had suspected for some time, but had not confirmed. It's a hard thing to face when you love cheese as much as we both do!
Second, she has a genetic variant called HLA-DRB1*1501. This variant puts her at increased risk for multiple sclerosis.
There is a connection here to her vitamin D deficiency. A few years prior to moving to Amsterdam, her vitamin D tested dangerously low. Her doctor prescribed a regimen of prescription vitamins to raise the level to normal. Looking at her records, a doctor in the Netherlands advised her that, if her D levels were that low, she would most likely need to be on vitamin D supplements for the rest of her life. She began taking vitamin D again, but her levels may have been extremely low again prior to that.
Of relevance here: one potential result of prolonged consumption of dairy for people who are lactose intolerant is damage to the microvilli in the digestive system in ways that make it harder for them to metabolize certain nutrients. Like vitamin D.
Here is the connection: the expression of the genetic variant that makes her susceptible to MS is mediated by vitamin D levels. So the longer she has low levels of vitamin D, the more likely she is to develop MS, or have it progress.
She has symptoms consistent with MS. The ENT she recently saw told her that her reactions to his exam were very abnormal and likely related to central nervous system dysfunction, which is what MS is. She got a referral from the ENT to a neurologist at the time she saw him, but now that referral seems more important, as doing diagnostics for MS seems called for. She's also going to talk to her GP about getting her D levels checked again.
So it's really good to have more information to go on. At the same time, as she wrote in her post on this topic, MS does permanent damage. If that's the cause of the chronic pain that's been seriously affecting her daily activities, then this is likely her new normal. Hopefully a diagnosis and treatment could at least address her symptoms in better ways than we've been able to and prevent or slow progression of the MS as much as possible.
Neither of us have expertise in these matters, obviously. But we hope that doctors will take a look at these results and take them seriously enough to take some action to confirm or reject them.
---
One paper on the topic of the connection between vitamin D and multiple sclerosis:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882222/
