07/25/2022
We returned to Ohio State University for Jacob's 3rd treatment in the ION363/Jacifusen clinical trial. Jacob is losing leg functions and can no longer walk without assistance. He can only stand for a short period of time and requires the use of a walker to move around at all.
07/17/2022
Today, we were contacted by another family living with the dreaded FUS-ALS diagnosis. Sonja Kämpfer explained that her daughter, Anna, was also receiving the ION363 drug. She was completely paralyzed, and in a coma in August 2021, but the effects of the drug have been profound for her! Anna is walking again, and regaining strength throughout her body!
The following article. Is from a German magazine. I translated it as best I could. It's a very encouraging read!
The voice of her daughter Anna has not been heard by Sonja for a year. At that time, the speech muscles of the now 18-year-old failed after a tracheal incision. When Anna wants to share something with her family, she types messages into her smartphone.
But a year later, Anna is sitting at the kitchen table in her parents' house in Waiblingen, Swabia. She looks fragile, but she can now breathe on her own for most of the day. She is even able to walk several kilometers at a time without help. Anna now even has the prospect of a halfway normal life again.
The case borders on a medical miracle. Nothing pointed to a happy ending when the family got into a chaos of never-ending bad news from November 2019. The drama began with the fact that the active Anna was having difficulty breathing while climbing stairs. Shortly before that, she was surfing, playing tennis, racing down the ski slope. But now she gasped for air after every second or third word while speaking. Mother, Sonja, believed that her daughter had developed a tic and was not very worried at first. Father, Uwe, also considered this to be a temporary quirk. "You speak like Donald Duck," he said to his daughter. But within a short time, Anna degraded so much that her parents realized the seriousness of the situation. An odyssey through various medical practices and clinics began. Then After months of ambiguity, finally a first tangible diagnosis: Anna suffers from myasthenia, a disorder of the interaction between nerves and muscles. Those affected can sometimes hardly lift their eyelids. But the disease is treatable. Only after a few weeks it turned out that Anna did not improve from the treatment. The diagnosis was wrong. The search for causes began all over again. Then a pediatric neurologist in Munich told the parents that two diagnoses were possible for their daughter, one of which seemed to be comparatively friendly: A disturbed transport of the vitamin riboflavin may trigger muscle weakness in Anna. The administration of a vitamin B2 preparation could probably help quickly. The other option was far more threatening. For the first time, a doctor said that Anna could be ill with ALS. "I was absolutely convinced that it was the riboflavin transport problem," says father, Uwe. Anna received the Vitamin B2 and time stood still… the family heard the grass growing. Every tiny sign was interpreted as a positive change. Everyone confirmed to each other: “improvement occurs" recalls Uwe. but that was likely the placebo effect. Only the result of a genetic examination brought final clarity. “I was at the pulmonologist during that time, and when mom came to me, I immediately knew that it was ALS”, Anna types into her phone today.
Now despair spread in the family. Father, Uwe, spoke with his father, a former family doctor from Rhineland-Palatinate. He confirmed: There is hardly any hope in ALS. But Anna's grandpa asked around. The son of an old friend works in the USA as a geneticist. He would sound out the situation and inquire about the latest research results and studies.
What he found was worth more than any lottery win and similarly unlikely: In New York City, researchers worked with a tiny group of subjects on the extremely rare FUS gene mutation that had triggered Anna's disease.
In Germany, up to 8000 people live with ALS. Only about ten percent of these cases are caused by a known gene mutation. And only about four percent of these are based on changes in the FUS gene. How likely is it to find an expert somewhere in the world who deals with the FUS gene mutation? Neurologist Neil Shneider is exactly that physician.
Dr. Shneider directs the ALS Center at Columbia University in New York. Although the FUS Gene mutations are so rare in the ALS spectrum, there is a good reason to pay particular attention to them: Actually, ALS is considered a disease that mainly affects people over the age of 50. However, the form based on FUS gene mutations often affects young people; and it is particularly extreme. A particular case prompted Neil Shneider to make an unusual attempt. At the beginning of 2019, 25-year-old Jaci Hermstad from Iowa fell ill with the variant. Shneider had met her because Hermstad's twin sister Alex had been a victim of FUS-ALS years earlier. Now he wanted to do everything he could to at least save Jaci. The Californian pharmaceutical company Ionis had carried out promising tests with an active ingredient, but the preparation with the unadorned name ION363 had not reached market maturity. Shneider received an exemption from the American Food and Drug Administration (FDA) to treat Hermstad with the drug. However, in May 2020, Jaci Hermstad died due to complications that had caused pneumonia. Subsequent investigations, however, showed that the toxic molecules typical of this aggressive ALS variant were virtually undetectable in Hermstad's nerve tissue. ION363 had apparently actually stopped the progression of the disease, but unfortunately not in time. The damage that ALS had done to Jaci Hermstad's body was already too great. ION363 was still not officially approved. But Shneider was now allowed to administer the drug under the name JaciFUSen to an extended group of young patients.
Enter the seriously ill Anna from Germany. Neil Shneider was quickly open to the young patient. His plan: He wanted to fly the promising medicine to Germany, where it was to be injected into Anna by a local neurologist. The FDA gave its consent within 14 days that Anna could receive the drug. "But the skepticism in Germany was huge," recalls Anna's father, Uwe. Overly concerned ethics councils and liability issues prevented his daughter from being injected with the remedy in this country. Mother, Sonja’s, bitterness about the experience is still clearly noticeable. "I have always known, If other patients react similarly, it could be a breakthrough in ALS therapy. But, If a child is terminally ill in Germany, then everything that is possible is tried…but first everyone says: Where is my responsibility? What are the questions of liability?"
Shneider now pushed for Anna to come to New York. Since his experience with Jaci Hermstad, he knew that every day counts: "We have no time to lose." But at the same time, he warned the family against high hopes: "It's just an opportunity." In December 2020, Sonja K. and her daughter Anna flew to the USA. When mother and daughter returned to Germany at the end of February 2021, Anna had four doses of the drug JaciFUSen. But outwardly she seemed more desolate than ever. When she got off the plane, he was "totally shocked," recalls father, Uwe. His daughter could no longer lift her head. She also barely got a word out. Had everything possibly been in vain? Because, still, no doctor in Germany wanted to inject her with the drug. The family went to a neurologist in St. Gallen, Switzerland. In August 2021, the absolute low point: Anna collapsed, slumped away in her mother's arm and had to be resuscitated. "For half an hour she was without an independent cycle. “Two and a half hours passed before we had them back," says Sonja. The bad news came blow by blow. Had Anna possibly suffered brain damage because the resuscitation took so long? In addition, she had now fallen into a complete rigidity, so that Sonja feared her daughter was locked in – that dreaded state of complete immobility, which means another aggravation within the ALS hell. In addition, Anna now had to use a tracheal incision to be ventilated.
For ALS patients, this has meant that a return to independent breathing is no longer possible from this point on. The reason for the collapse was pneumonia. Anna was put into an artificial coma for ten days. From now on, she will lie in bed around the clock, constantly connected to a ventilator, the senior physician at a Stuttgart clinic explained to them. But after the collapse, Anna suddenly recovered very quickly. Unlike her doctors, her therapists in the clinic were full of confidence. During her stay, she was able to breathe independently for up to a minute, thanks to intensive training. On New Year's Eve 2021, she breathed for an hour without a ventilator. She slowly became stronger, soon she was able to get up on her own again, even walk. Facial expressions returned to the once frozen face.
In the meantime, the family no longer has to hear the grass grow, because the progress is measurable. Above all, the studies show that the increase in devastating muscle paralysis has apparently been stopped. “Her case is completely extraordinary," says Neil Shneider. If other patients also react similarly to the active ingredient JaciFUSen, this would be a breakthrough in ALS therapy," says the physician. This raises hopes among those affected. But what does healing mean?
As the case of Anna shows, muscle paralysis can be stopped.
Leverkusen is home to 31-year-old Kerstin Wirth, where ALS broke out ten years ago. Like Anna, she also suffers from a variant that was triggered by a mutation in the FUSGen. Kerstin Wirth is almost completely paralyzed. Only by twitching a muscle in the corner of her mouth can she still communicate with her parents. As for the administration of the drug JaciFUSen, Kerstin is no longer eligible, was indicated to the Wirths by the Californian manufacturer Ionis. The disease has already caused too much damage, her condition will not improve with the remedy. But this assessment fails to recognize the benefit it would be if Kerstin Wirth's fatal paralysis could also be stopped.
Her parents desperately want to save the only remaining communication channel that they have left with their daughter. For this, the muscle in the corner of the mouth must not weaken. Because if Kerstin can no longer communicate, she has decreed, the artificial respiration should be switched off.
For Anna, the treatment with JaciFUSen may have come at the last moment. She was actually the only one who always believed in the effectiveness of the drug, her parents say. The fact that she hadn't gone crazy in
the meantime, was due to her friends and Snoopy, her golden retriever. At her
worst point, Anna K. was at a height of 5’5”, had lost weight to less than 88
pounds., but now she weighs a good 115 pounds. She is still fed through a
feeding tube. She cannot yet swallow solid food. But through intensive
training, she is increasingly regaining the functions in her nerves. She is
already making plans for the future.
In three or four years, she could possibly complete her degree and
attend her high school graduation. And she wants to play tennis and ski again.
Another wish will probably come true sooner… Anna is very hungry for a steak!
