Family battling Children’s Hospital to bring teen home for Christmas #2

[txsvicki]

I was looking up more info on mito and found that sufferers can have stroke like episodes. Has a doctor reported that Justina had an actual stroke in the past? I still don't really understand the disease, but can sort of see how it might not always show up in tests until an organ system is actually damaged, and that might take years. I don't quite understand why the family hasn't undergone some genetic testing to see if it passed down maternally. It might show something that would help prove what's going on.

 

[jjenny]

I was looking up more info on mito and found that sufferers can have stroke like episodes. Has a doctor reported that Justina had an actual stroke in the past? I still don't really understand the disease, but can sort of see how it might not always show up in tests until an organ system is actually damaged, and that might take years. I don't quite understand why the family hasn't undergone some genetic testing to see if it passed down maternally. It might show something that would help prove what's going on.

Mitochondrial disease is not due to just single mutation. Many mutations are possible. So it's not easy to do a genetic testing on it. Her older sister also has it. The older sister was tested by muscle biopsy and it was positive.

 

[Linda7NJ]

Didn't I read somewhere that she missed over 50% of the school year in 2012? Before this all began....


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[Linda7NJ]

As Justina's parents are reportedly allowed 'almost unlimited visitation' at this new CT facility as opposed to the one-hour weekly supervised visits in MA, I really have to wonder whether her medical team & DCF consider that her condition has improved to the extent that exposure to her family is no longer an immediate threat to her health or whether perhaps this is a tacit admission that those visitation restrictions were a wee bit draconian.

IMO they are giving her parents the opportunity to "get with the program".

This is their chance to shine. Embrace the medical team that's been assembled and follow directions.

This weekend is her 16th birthday. I hope the parents can deal with their own issues appropriately when she isn't placed in their home. That was their "deadline"
If they can keep it together without losing their minds again, not flip out, not start bad mouthing the providers, threatening staff or making false allegations....it would go a very long way toward her being reunified sooner rather than later...All IMO.


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[sweetmom]

Mitochondrial disease is not due to just single mutation. Many mutations are possible. So it's not easy to do a genetic testing on it. Her older sister also has it. The older sister was tested by muscle biopsy and it was positive.

Can anyone cite a link or source that confirms the statement that Justina's older sister had a muscle biopsy and was positively diagnosed with mitochondrial disease?
I have seen references to the family and its supporters saying that is a fact, but cannot recall ever seeing any objective confirmation that the sister does indeed have mito.
As many news reports have stated, Justina herself was being treated for mito on the assumption that was true, but she has never had a muscle biopsy or been conclusively diagnosed.

 

[K_Z]

Mitochondrial disease is not due to just single mutation. Many mutations are possible. So it's not easy to do a genetic testing on it. Her older sister also has it. The older sister was tested by muscle biopsy and it was positive.

Can anyone cite a link or source that confirms the statement that Justina's older sister had a muscle biopsy and was positively diagnosed with mitochondrial disease?
I have seen references to the family and its supporters saying that is a fact, but cannot recall ever seeing any objective confirmation that the sister does indeed have mito.

As many news reports have stated, Justina herself was being treated for mito on the assumption that was true, but she has never had a muscle biopsy or been conclusively diagnosed.

Here is what I read earlier today.

Korson recognized that this approach made him a “lumper,” meaning he was more willing to lump patterns of symptoms together to get to a diagnosis, even if the patient did not have the classical markers associated with the illness. Conversely, he felt others, including some at Children’s, were “splitters,” meaning they avoided making a diagnosis if the patient did not have the classic markers.

Although he had given Justina a “working” diagnosis of mito, he acknowledged he couldn’t be 100 percent sure. But he was certain of this much: Justina had chronic, serious symptoms that left her drained and were suggestive of mito, particularly her pattern of losing stamina as the day and week wore on, which her teachers had noted. Her older sister’s muscle biopsy had also suggested mito, which can run in families. And Justina had received the rare cecostomy surgery only after a sensitive, two-hour-long test measuring how effectively her colon pushed out waste had provided objective evidence that her colon was seriously impaired.

http://www.bostonglobe.com/metro/2013/12/15/justina/vnwzbbNdiodSD7WDTh6xZI/story.html

Interesting that it is carefully worded that the biopsy "suggested" mito. That is not necessarily diagnostic in a "definitive" way. My understanding is that the muscle biopsy alone is not diagnostic for the disease, as there are other diseases that reveal the same results with either fresh or frozen biopsy. There is lots of discussion about frozen versus fresh biopsies online if one wants to search.

I'm familiar with muscle biopsies because they are used to diagnose a very serious genetic anesthesia disorder, Malignant Hyperthermia Syndrome. For MH, the biopsy is 100% diagnostic.

 

[sweetmom]

Here is what I read earlier today.



http://www.bostonglobe.com/metro/2013/12/15/justina/vnwzbbNdiodSD7WDTh6xZI/story.html

Interesting that it is carefully worded that the biopsy "suggested" mito. That is not necessarily diagnostic in a "definitive" way. My understanding is that the muscle biopsy alone is not diagnostic for the disease, as there are other diseases that reveal the same results with either fresh or frozen biopsy. There is lots of discussion about frozen versus fresh biopsies online if one wants to search.

I'm familiar with muscle biopsies because they are used to diagnose a very serious genetic anesthesia disorder, Malignant Hyperthermia Syndrome. For MH, the biopsy is 100% diagnostic.

----
Thanks for this. There are a lot of "suggestions' and "could be's" in this complex story. We will probably never know for certain that either Pelletier sister has mito. But there has been a lot of sloppy reporting that states it as fact.

 

[Linda7NJ]

First, let me preface this with the fact I am not a doctor of any sort.

Reading about Justina's symptoms started me thinking about my cousin's battle with Lyme disease many many years ago.
One day she was thriving, happy, healthy and attending university on a full academic scholarship...she started getting weak, tired...then muscle paralysis... Swallowing difficulties. followed by gibberish talking. Doctors at the local hospital sent her to Children's Hospital in Philadelphia..they contacted Johns Hopkin's and off she went. This was over a period of of years. (5)
She was ultimately diagnosed with Lyme disease....this was before much was known about the neurological impact it could have. She never recovered. They were able to stop the progression. But she now functions at about 8 years of age.




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[Morag]

First, let me preface this with the fact I am not a doctor of any sort.

Reading about Justina's symptoms started me thinking about my cousin's battle with Lyme disease many many years ago.
One day she was thriving, happy, healthy and attending university on a full academic scholarship...she started getting weak, tired...then muscle paralysis... Swallowing difficulties. followed by gibberish talking. Doctors at the local hospital sent her to Children's Hospital in Philadelphia..they contacted Johns Hopkin's and off she went. This was over a period of of years. (5)
She was ultimately diagnosed with Lyme disease....this was before much was known about the neurological impact it could have. She never recovered. They were able to stop the progression. But she now functions at about 8 years of age.



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How sad!! Connecticut is definitely a Lyme disease state, and practically everyone I know has had it, or has had it in their family. While this sounds like a possibility for Justina, it's hard to believe that it wouldn't have been considered already. Reading about these debilitating and hard/impossible to definitively diagnose ailments makes me thankful for my own family's continued good health.

 

[Linda7NJ]

How sad!! Connecticut is definitely a Lyme disease state, and practically everyone I know has had it, or has had it in their family. While this sounds like a possibility for Justina, it's hard to believe that it wouldn't have been considered already. Reading about these debilitating and hard/impossible to definitively diagnose ailments makes me thankful for my own family's continued good health.

Oh, I agree it's certainly a super long shot!
Makes me very thankful too!

I do think the time she's spent away from family enabled them to get a clearer, much more accurate look at her symptoms. That's always beneficial!



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[i.b.nora]

----
Thanks for this. There are a lot of "suggestions' and "could be's" in this complex story. We will probably never know for certain that either Pelletier sister has mito. But there has been a lot of sloppy reporting that states it as fact.

I wouldn't blame reporting. Lou himself has stated in numerous interviews that the older sister has been diagnosed with it (for a fact!).

 

[Linda7NJ]

I wouldn't blame reporting. Lou himself has stated in numerous interviews that the older sister has been diagnosed with it (for a fact!).

Forgive me, but I find Lou far less than credible, given his track record. IMO


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[sweetmom]

I wouldn't blame reporting. Lou himself has stated in numerous interviews that the older sister has been diagnosed with it (for a fact!).

Well, that's my point. The family says something, and then reporters quote them, and then still more reporters just state the same information, without attribution to the family, as established fact. And often no such fact has been independently confirmed.
I'm a journalist and have been deeply troubled by how many news stories have taken the family's allegations and recycled them as established fact, apparently without bothering to check into and confirm them. That is not the way it is supposed to work, folks.

 

[i.b.nora]

Well, that's my point. The family says something, and then reporters quote them, and then still more reporters just state the same information, without attribution to the family, as established fact. And often no such fact has been independently confirmed.
I'm a journalist and have been deeply troubled by how many news stories have taken the family's allegations and recycled them as established fact, apparently without bothering to check into and confirm them. That is not the way it is supposed to work, folks.

Okay, I understand now what you are saying. I myself have read only the Boston Globe articles, almost all of Beau Berman's articles and have listened to Lou Pelletier interviews with people (not journalists, imo) that I don't normally listen to and who have agendas of a political nature not of an investigative journalist nature.

 

[jjenny]

Okay, I understand now what you are saying. I myself have read only the Boston Globe articles, almost all of Beau Berman's articles and have listened to Lou Pelletier interviews with people (not journalists, imo) that I don't normally listen to and who have agendas of a political nature not of an investigative journalist nature.

Justina's family showed reporters her medical records. What is reported is not just being based on their words.

 

[jjenny]

Well, that's my point. The family says something, and then reporters quote them, and then still more reporters just state the same information, without attribution to the family, as established fact. And often no such fact has been independently confirmed.
I'm a journalist and have been deeply troubled by how many news stories have taken the family's allegations and recycled them as established fact, apparently without bothering to check into and confirm them. That is not the way it is supposed to work, folks.

On the other hand, we are supposed to believe DCF has some super secret information they just can not share with us. I am frankly amazed people have no problem believing something nobody even said.

 

[jaunty-girl]

On the other hand, we are supposed to believe DCF has some super secret information they just can not share with us. I am frankly amazed people have no problem believing something nobody even said.

They don't have super secret information, they are just bound by privacy laws, <modsnip>

 

[jjenny]

They don't have super secret information, they are just bound by privacy laws,<modsnip>.

But we can just assume they have something. Because they are so trustworthy.

 

[Donjeta]

But we can just assume they have something. Because they are so trustworthy.

No, why would we do that when we can just assume that there is a huge conspiracy involving several medical providers and courts and child protection agencies that wants to destroy this family for no reason at all and everybody is in cahoots and made up a lot of baseless allegations they know not to be true.

Because it's obviously the simplest explanation.

Either the Pelletiers leave things out and distort things from their own perspective or everybody else is hell bent on having Justina dead.

 

[txsvicki]

I sure don't get why a muscle biopsy wasn't taken when Justina had the cecostomy done. She had to be under anesthesia for that procedure. DNA testing might show if some mutations were passed down from the mother to the older daughter. They supposedly know that the older daughter hs mito. This disease is not curable and there's no treatment other than maybe some supplements and treatment of the damage that are being done to organ systems. I worry that if Justina really does have this she could be in constant pain. One lady said on her blog that she hurts all the time, it never goes away, but pain meds help a little when it's really bad. Justina has been taken off pain meds if I understood correctly. If all this really is somatoform, Justina would have had to be researching and/or being told all these symptoms in order to unconsciously incorporate them into somatoform disorder. Movement disorders, pain, fatigue, spasms, learning disabilities, etc.