There is an experimental drug in early phase 2 clinical trials that might be able to treat Leigh's disease. The primary purpose of phase 2 is to see if the drug "works." Phase 2 studies are typically very small. Mitochondrial Disease Life Expectancy.
There are 14 studies registered at www.clinicaltrials.gov for one of the drugs mentioned in this article, EPI-743. Only two of them were focused on Leigh's disease patients. Mitochondrial diseases EPI743 search results.
When I looked for clinical trials of Leigh's disease, I found 17 studies registered. Mitochondrial disease Leigh search results.
Of these studies, three are registries, meaning that they are aimed at locating patients and recording their symptoms in order to build a more complete clinical profile of the disease. One was withdrawn for reason of IND withdrawal (meaning that the FDA pulled the "investigational new drug" designation needed to perform clinical trials). Another was terminated for lack of efficacy of the drug being tested. There were only three drugs being tested in the studies of potential treatments, one of them being the drug with lack of efficacy.
None of the drugs being tested would cure the disease. They are intended to try to chemically enhance mitochondrial function to overcome the defect in the electron transport chain. So far, results are not promising.
Thus, the only option possible would have been to enroll the child in a phase 2 early drug study. Maybe that's what the hospital in Italy wanted to do; I don't know. Would enrolling the child in an experimental study of a drug to see if/how well it works be of psychological benefit to the parents? The child's disease is still fatal. Perhaps enrolling her in a clinical trial would have given the parents the feeling that they did everything possible, which would allow them to accept the death more peacefully? We will never know.
Let's not miss the point that it should not be the function of government to prevent parents from accessing reasonable medical care for their critically ill child on behalf of the socialist NHS death panel that wishes to play God. Miracles can and do still happen, even if they don't typically happen to the statisitical majority.
According to this, she also had a hole in her heart and had operations on her bowel and skull soon after she was born in February. I’m not clear as to whether this was part of Leigh’s disease or if she had other congenital birth defects as well.
https://www.the-sun.com/news/9322121/indi-gregory-parents-lose-court-battle-charlie-gard/
Some pictures show her with her eyes open and just a feeding tube and a nasal oxygen tube (?), but more recent ones show her fully intubated and not conscious lending credence to the UK doctors saying that her condition was rapidly deteriorating.
I truly feel for her parents. I truly understand they want to try everything possible to save or more realistically to do anything to prolong their child’s life. What loving parents wouldn’t?
I am also torn as to whether they should have been allowed to transfer her to a hospital in Italy that offered some hope. I would say that if someone was willing to pay for it and another hospital was willing to accept responsibility, it should have been allowed IMO. OTOH, that hospital doesn’t exactly have a stellar reputation so perhaps that was taken into consideration by the court.
https://en.wikipedia.org/wiki/Bambino_Ges%C3%B9_Hospital#Controversy
https://www.cbsnews.com/news/associated-press-bambino-gesu-childrens-hospital-vatican-pope/
Then again giving false hope comes cheap (or sometimes very expensive); real outcomes are perhaps a different story.
Sometimes the ultimately futile and painful attempts to prolong their child’s life that really aren’t in the child’s best interest are hard to accept but may help mitigate feelings of guilt of the parents who may feel some responsibility, deservedly or not.
I am reminded of the case of the teen Jahi McMath who was pronounced brain dead after her heart stopped after hemorrhaging after a tonsillectomy (actually an adenotonsillectomy, uvulopalatopharyngoplasty and submucous resection of bilateral inferior turbinates so not a routine tonsillectomy) and the family’s fight to keep her on life support. In Jahi’s case there were some questions about her mother giving her food just after surgery against medical advice and whether that caused her bleeding or whether the hospital was at fault.
https://en.wikipedia.org/wiki/Jahi_McMath_case
Modern medicine has progressed a lot in the last 100 years or so - medicines, anti-biotics, diagnostic tests and diagnostic equipment (MIR’s CAT scans, etc.), surgeries, life support machines, and yes, vaccines, have increased life expectancies and in many cases improved quality of life for many.
But when it comes to extreme life support measures in the face of terminality in Indi’s case or in the case of Jahi McMath, clinical brain death, the question becomes not CAN we prolong life because we have the technology, but in all and every case, SHOULD we just because we CAN.
I bought a townhouse in 2004 and my next-door neighbors were a retired couple, nice folks except the husband was kind of a “Karen” - knowing all the neighborhood gossip and a bit stalkerish. It seemed every time I came home from work, shopping, etc. he was standing at his front door and came out to talk to me. I couldn’t go out on my back deck or have company over without him coming out on his deck and injecting himself into our conversations. I couldn’t even mow my yard without being under his watchful eye. I think his intentions were good, but he had no boundaries.
Anyway, I came home one day, and his wife was weeding their flower bed, said hello to her (I liked her) and struck up a conversation. I hadn’t seen her husband for several days (unusual) and she told me he was at MD Shock Trauma with his mother. His 96-year-old mother had been in a car accident several days earlier in a car driven by his younger brother while taking her to a doctor’s appointment, an active alcoholic (her husband was a recovered alcoholic) who was driving drunk and hit a pickup truck head on.
The 96-year-old 90-pound soaking wet woman was not wearing a seat belt at the time and sustained massive internal injuries and head trauma. EMT’s at the scene performed CPR and she was medevacked.
Once at Shock Trauma, the doctors determined that she suffered brain damage due to lack of oxygen and internal bleeding and that given her age and frail condition any surgery would very likely kill her, and that continuing life support was futile. But her son, my neighbor according to what his wife told me, refused and insisted she be kept on life support. He also refused, against all medical advice, to sign a DNR.
It was clear to me that his wife, who IIRC had been a nurse, disagreed with him but it wasn’t her call to make. The man’s mother was kept “alive” if one can call it that for several weeks until her heart finally stopped and after a cascade of organ failures and could not be resuscitated. FWIW she told me that the CPR performed by the EMT’s had broken several of her ribs, one broken rib puncturing a lung. I have to wonder if his instance on keeping her on life support against all odds was to make up for and assuage any guilt he had for he letting his alcoholic brother drive her to her doctor’s appointment instead of him.
But in any case, it would have been more merciful to have removed her from life support, given palliative care including pain killers and allowed her to die a more “natural” death.
FWIW, my mother suffered a sudden bout of acute idiopathic pancreatitis and multiple organ failures including a pancreas that had “liquified” and after consulting with the doctors at Johns Hopkins who despite their valiant efforts to save her, we agreed to have her removed from life support after 2 weeks.
A year and a half later my father contracted an anti-bacterial resistant pneumonia and after 6 weeks in the ICU and on life support at the very same hospital and again with valiant efforts to save his life, he was removed from life support.
Neither I nor my family ever regretted ending their suffering by having their life support removed. Both passed peacefully.