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New York: Within minutes of KJ Muldoon being born, doctors knew something was wrong. Born five weeks premature, his arms would get stiff when he lifted them up and move strangely when he came back down. While investigating the possible causes, a doctor from the University of Pennsylvania found that KJ’s ammonia levels were off the charts. The child was then rushed to the Children’s Hospital (medical) of Philadelphia, where doctors started treatment immediately.
KJ’s problem
Actually, KJ Muldoon’s body could not clear ammonia, which is formed when the body converts protein from food into energy. Not being able to excrete it through urine like healthy people, the ammonia accumulated and damaged first his brain and then his entire body.
KJ’s mother Nicole remembers that moment
According to the New York Times, KJ’s parents Kyle and Nicole were terrified till the second day of his life. Kyle recalled that moment and said, “I heard about death or severe developmental disability.” Nicole said this in a conversation with reporters on May 12. Nicole said that now after 9 months he is smiling, sitting without any help and happily eating avocado. He has defeated all the obstacles and hurdles that have come his way so far. He is beyond our expectations.
Treatment is being done through gene therapy
Nicole said that all this was possible because KJ is being treated through gene therapy. Genes are edited in his liver cells. This is done with the aim of correcting the genetic mistake in some of his liver cells. With gene therapy, KJ’s body is able to produce an enzyme called CPS1, which is necessary to break down proteins. KJ’s ammonia level is now very close to normal.
‘It’s too early to say anything about KJ’
Right now, doctors say it’s too early to say KJ is okay or what the rest of his life will be like. But he’s definitely in a better state than he was then. “Seeing him reach the milestones that are important for the development of any baby shocks us even more,” says KJ’s mother Nicole. Nicole says we know what we saw and how bad it could have been.
Doctors were already trying
By the way, it is also important to know here that before KJ was born, a team of doctors and researchers at Penn were trying to test a treatment that had never been tried before. Working with a company, Penn cardiologist Dr. Kiran Musunuru had discovered how to gene-edit liver cells. Returning to his lab after the corona pandemic in 2021, Musunuru worked closely with Dr. Rebecca Ahrens-Niklas, a metabolic physician at the Children’s Hospital of Philadelphia. The pair hoped to do something better in the metabolic problems that KJ was suffering from.
What did Dr. Rebecca say?
Dr. Rebecca, a metabolic physician at the Children’s Hospital of Philadelphia “I have many patients who have no choice,” Ahrens-Niklas says. She added that existing medications and diets can help reduce the risk of ammonia overload, and a liver transplant can correct most problems, but the child would have to live long enough and be big enough for a transplant.
Doctors were not expecting
KJ’s disease was so severe that Dr. Rebecca wasn’t sure if he would survive until his first birthday, or what the state of his brain would be if he did survive. Before telling KJ’s parents, Musunuru and Ahrens studied whether they could fix his specific genetic mutation with an editing technique called CRISPR.
Doctors did not have time
Within a few weeks, Musunuru’s lab had some success. A method was devised and tested on mice. But, they still weren’t getting enough results to cure KJ. The biggest problem was the lack of time, which was not on the doctors’ side. Ammonia It was affecting KJ’s brain cells. Meanwhile, by Valentine’s Day, doctors discovered a method that proved so effective that a cure seemed possible.
The family took a decision
KJ’s parents Nicole and Kyle had the option of waiting and hoping that the medicines could stop the damage enough for KJ to reach his first birthday and become eligible for a liver transplant. Or they could opt for gene therapy as soon as possible. But, this was a method that had never been tried on anyone before. Nicole and Kyle then made a decision that had never been tried on anyone.
The biggest day
Kyle said that the family members talked and then this decision was taken. “We prayed, talked to people, gathered information, finally we decided that we should take this path.” After this, the first infusion day on February 25 was very disturbing, especially for many of the doctors who were involved in the treatment. Dr. Rebecca said, “It was the longest two hours of my life.” KJ was about six months old at the time.
‘In the field of rare diseases
