Please can TeamPR help child threatened with 'intensive inpatient treatment' for failing to recover

[BeautifulDay]

@Bourlet I just read your post on another thread where you wrote: "She is currently at her worst, bed-bound and in lots of pain. She is now receiving home visits (ugghh) from the CF unit and was told last week by the CF Paediatrician that she needed to be 'brave' and attempt to get out of bed. She of course spends every minute of every day being brave just to exist. This relapse is, I am sure, after following their advice that she needed to readjust her circadian rhythms by cutting her sleep from 16 hours to 8 hours a night, which she managed for 6 weeks before having a total crash. She is now sleeping 19-20 hours in a 24 hour period, with all the associated problems of deconditioning, weight loss etc."

One of the things I learned is that we all have mutations causing various issues. In addition to our mitochondrial mutation, we have two mutations in our family that causes Sleep Syndrome. For us, it's melatonin, etc... coming on and bringing sleep 3 1/2 hours earlier than others. I also am awake in the middle of the night for a few hours - so I have sleep time 1 and sleep time 2 almost every night.

There are other sleep syndromes where people need much more sleep. Trying to tell someone with a pathogenic mutation who needs more sleep to sleep less would make them very sick indeed.

Here is a post I wrote this morning on my family's sleep mutations.
http://forums.phoenixrising.me/inde...c-mutations-that-cause-sleep-syndromes.58415/

Many mutations have been discovered that cause various sleep issues including narcolepsy. For example, according to the NIH, "Researchers have identified changes in several genes that influence the risk of developing narcolepsy. The most well-studied of these genes is HLA-DQB1, which provides instructions for making part of a protein that plays an important role in the immune system. The HLA-DQB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-DQB1 gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A variation of the HLA-DQB1 gene called HLA-DQB1*06:02 has been strongly associated with narcolepsy, particularly in people who also have cataplexy and a loss of hypocretins. Most people with narcolepsy have the HLA-DQB1*06:02 variation, and many also have specific versions of other, closely related HLA genes. It is unclear how these genetic changes influence the risk of developing the condition."
https://ghr.nlm.nih.gov/condition/narcolepsy#inheritance

So this is just another instance where WGS/WES might be able to prove there is an issue that the doctors are currently ignoring because of a diagnosis of CFS.

 

[anni66]

We’re not far off this situation ourselves, so following closely. My 18 daughter is very unwell, bed-bound, tube-fed, catheter and extreme pain. She become very ill following the ‘care’ of EC, though we have managed to extract her from her clutches. Very interested in the idea of genetic testing. What could this throw up that might help? What is WGS or WES?

Why does noone sue EC?

 

[BeautifulDay]

We initially got the ATP profiles test from Acumen labs. This showed that my daughter had issues with ATP production, ADP to ATP conversion and oxidative phosphorylation was way below normal - so significant problems with the basic mechanics of producing energy. I had to do an interpretation , based on @Hip ' s posts which GP took seriously. Consultant did not understand it, and disappointingly didn' t want to understand it.
Considering genetic testing as my best guess is compromised liver function ( but normal blood tests) . We don' t have anyone who could interpret ( snd i don' t think i am up to that yet)

@anni66 Nobody ever feels like they are going to be capable of jumping into interpreting results. Yet, it's one step at a time. If you go with a company that provides health reports plus the data on a flash drive (VCF, FastQ, and BAM files), then they've done an initial look for pathogenic mutations. You bring that health report back here and people will help.

Then you run the VCF through Promethease for I believe it's $10. Then you come back here for help.

By then you'll know a lot more and might be ready to try Enlis. Then after Enlis there are even more tools.

One step at a time. The first step is finding a lab that does WES/WGS for individuals (direct to consumer tests) at a level that is medically acceptable (X30 depth for WGS) with a certified lab, that provides the output you want (health report, VCF, FastQ, and BAM).

 

[anni66]

@anni66 Nobody ever feels like they are going to be capable of jumping into interpreting results. Yet, it's one step at a time. If you go with a company that provides health reports plus the data on a flash drive (VCF, FastQ, and BAM files), then they've done an initial look for pathogenic mutations. You bring that health report back here and people will help.

Then you run the VCF through Promethease for I believe it's $10. Then you come back here for help.

By then you'll know a lot more and might be ready to try Enlis. Then after Enlis there are even more tools.

One step at a time. The first step is finding a lab that does WES/WGS for individuals (direct to consumer tests) at a level that is medically acceptable (X30 depth for WGS) with a certified lab, that provides the output you want (health report, VCF, FastQ, and BAM).

Thanks @BeautifulDay
My aunt is severely affected and recently did a 23 and me test as it' s the most accessible. I ran the raw data through promethease but am a bit lost after this. I don' t know how comprehensive 23 and me is ?

 

[BeautifulDay]

Why does noone sue EC?

It's very hard to prove medical negligence. Here in the U.S., lawyers will take on medical malpractice cases and not require a fee, but take something like 30 or 40% of the settlement. The problem is that most of the lawyers are looking for the easy to win cases with potential multi-million dollar payouts and won't touch anything else. If it's not clear cut with the potential for huge win, then most good medical attorneys in the U.S. won't take on a medical case.

 

[BeautifulDay]

Thanks @BeautifulDay
My aunt is severely affected and recently did a 23 and me test as it' s the most accessible. I ran the raw data through promethease but am a bit lost after this. I don' t know how comprehensive 23 and me is ?

23andme is so/so. Their findings have to be taken with a grain of salt and retested elsewhere since they have sometimes had errors. In addition, 23andme looks for a limited amount of variants. For the cost, 23andme is reasonable.

For Promethease. Do a sort for me where the magnitude is greater than 3, the allele frequency is less than 2%, and check the box for "bad". See if anything interesting comes up. If nothing does, then change it to magnitude of greater than 2.5. Promethease is very good, but doesn't have all the mutations. It's a great intro and is associated with SNPedia. Things that you find out and dismiss as not the cause of the symptoms will help you get closer to what might be the cause.

 

[anni66]

It's very hard to prove medical negligence. Here in the U.S., lawyers will take on medical malpractice cases and not require a fee, but take something like 30 or 40% of the settlement. The problem is that most of the lawyers are looking for the easy to win cases with potential multi-million dollar payouts and won't touch anything else. If it's not clear cut with the potential for huge win, then most good medical attorneys in the U.S. won't take on a medical case.

Yes,.it would be difficult. The lack.of information re potential harm us the negligent part. My daughter also went backwards trying to " shift sleep". It was a phase shift snd us quite common, but trying to get her to sleep earlier just reduced the amount if sleep she got and made things worse.
Paediatrician did not accept that HPA axis issues may be worth exploring. Nor that serology may be a good idea to see if EBV/ CMV and earlier chickenpox were issues..... Just basic sleep hygiene, activity sheets ....

 

[anni66]

23andme is so/so. Their findings have to be taken with a grain of salt and retested elsewhere since they have sometimes had errors. In addition, 23andme looks for a limited amount of variants. For the cost, 23andme is reasonable.

For Promethease. Do a sort for me where the magnitude is greater than 3, the allele frequency is less than 2%, and check the box for "bad". See if anything interesting comes up. If nothing does, then change it to magnitude of greater than 2.5. Promethease is very good, but doesn't have all the mutations. It's a great intro and is associated with SNPedia. Things that you find out and dismiss as not the cause of the symptoms will help you get closer to what might be the cause.

Thank you - will do this.
Which genetic testing platform would be better,? We are in UK ?

 

[Hip]

Why does noone sue EC?

This is what I'd like to know also.

It seems Esther Crawley's treatment has worsened the health of quite a few you teenagers with ME/CFS, and this could easily be taken up with no win no fee solicitors.

In fact recently I wrote to some solicitors asking for clarification on the circumstances under which you can sue, and their reply is given in this post.

This webpage also explains what you need to do in order to sue.

 

[anni66]

This is what I'd like to know also.

It seems Esther Crawley's treatment has worsened the health of quite a few you teenagers with ME/CFS, and this could easily be taken up with no win no fee solicitors.

In fact recently I wrote to some solicitors asking for clarification on the circumstances under which you can sue, and their reply is given in this post.

This webpage also explains what you need to do in order to sue.

Seemingly there are others who improve under her care.
Whether or not they have ME is the crux of yhe matter. From her research she dosn' t seem to know what ME is.

 

[BeautifulDay]

Thank you - will do this.
Which genetic testing platform would be better,? We are in UK ?

Send me a private message and I'll tell you which one I recently used after doing all the research. None of them are perfect because we are in the infancy of the field. I don't want to come out for any one testing company because I'd like to see them all rise to occasion.

For example, when I recently did the research, one of the top direct to consumer providers was providing health reports without the VCF, FastQ, and BAM files on WES tests. I find that ridiculous. My hope is they all step up to the plate.

It might take publicly saying who provides the most right now. But I'd really like them all to start doing the right thing without that.

 

[Diwi9]

For Promethease. Do a sort for me where the magnitude is greater than 3, the allele frequency is less than 2%, and check the box for "bad". See if anything interesting comes up. If nothing does, then change it to magnitude of greater than 2.5. Promethease is very good, but doesn't have all the mutations. It's a great intro and is associated with SNPedia. Things that you find out and dismiss as not the cause of the symptoms will help you get closer to what might be the cause.

OT, but thank you for sharing this. Just checked my Promethease and it turns out I carry an allele (HLA-B*5801) that is rare in Caucasians but implicates a 40-580 increased risk to two different serious reactions when taking allopurinol. There are no FDA recommendations for screening for this prior to prescribing the drug.

 

[BeautifulDay]

Yes,.it would be difficult. The lack.of information re potential harm us the negligent part. My daughter also went backwards trying to " shift sleep". It was a phase shift snd us quite common, but trying to get her to sleep earlier just reduced the amount if sleep she got and made things worse.
Paediatrician did not accept that HPA axis issues may be worth exploring. Nor that serology may be a good idea to see if EBV/ CMV and earlier chickenpox were issues..... Just basic sleep hygiene, activity sheets ....

@anni66 I remember seeing a nationally known sleep specialist in NYC. He wanted me to shift my sleep. As if that would fix all my issues. I wish I knew about having this variant that moves sleep up 3.5 hours with changes in melatonin etc at that time.

A lot of the time I feel like I have to educate the doctors by bringing in my DNA results and related medical journal studies. Genetics is new to them. They were taught this is how it works (without exceptions). Then they became the teachers at top universities teaching this old knowledge to the new generation of doctors. And now we need to help teach them, so their students will know better.

 

[BeautifulDay]

OT, but thank you for sharing this. Just checked my Promethease and it turns out I carry an allele (HLA-B*5801) that is rare in Caucasians but implicates a 40-580 increased risk to two different serious reactions when taking allopurinol. There are no FDA recommendations for screening for this prior to prescribing the drug.

That sounds like a very important one to follow up on, presuming you take alopurinol.

 

[anni66]

@anni66 I remember seeing a nationally known sleep specialist in NYC. He wanted me to shift my sleep. As if that would fix all my issues. I wish I knew about having this variant that moves sleep up 3.5 hours with changes in melatonin etc at that time.

A lot of the time I feel like I have to educate the doctors by bringing in my DNA results and related medical journal studies. Genetics is new to them. They were taught this is how it works (without exceptions). Then they became the teachers at top universities teaching this old knowledge to the new generation of doctors. And now we need to help teach them, so their students will know better.

Yes. Even without a rare genetic condition, M.E itself requires a lot of research and communication (by the patient)
Unfortunately there are a lot of " old school" consultants.
Will PM you my aunt's search per above - 29 entries on the search criteria. Thanks for your help - feeling a bit overwhelmed.

 

[anni66]

There are a lot of similarities between my daughter and my aunt- personality wise they are like clones- it will be interesting to see if genes do skip a generation ( the old wives tale that you inherit your grandparent's genes)

 

[BeautifulDay]

Yes. Even without a rare genetic condition, M.E itself requires a lot of research and communication (by the patient)
Unfortunately there are a lot of " old school" consultants.
Will PM you my aunt's search per above - 29 entries on the search criteria. Thanks for your help - feeling a bit overwhelmed.

Glad to help

 

[anni66]

Glad to help

thank you

 

[Diwi9]

That sounds like a very important one to follow up on, presuming you take alopurinol.

I don't, but it is a commonly prescribed medication. Thank you again! I have a tiny bit of Asian ancestry, this variant must have slipped in with the mix.

 

[Mel9]

Send me a private message and I'll tell you which one I recently used after doing all the research. None of them are perfect because we are in the infancy of the field. I don't want to come out for any one testing company because I'd like to see them all rise to occasion.

For example, when I recently did the research, one of the top direct to consumer providers was providing health reports without the VCF, FastQ, and BAM files on WES tests. I find that ridiculous. My hope is they all step up to the plate.

It might take publicly saying who provides the most right now. But I'd really like them all to start doing the right thing without that.

Janet Dafoe (@Rose49) might this help Whitney?