11/23/2022
I took Jacob hunting. We spent the day at Uncle Joe and Pauline's farm, in our blind. At 4:30 PM, Jacob spotted a deer! The shot would end up being over 200 yards. Unfortunately, Jacob was unable to grip the rifle, so he asked me to take the shot. The rangefinder put it at 225 yards. I shot and dropped it where it stood! Jacob had a blast… This was a great day!
11/21/2022
Pam is massaging Jacob once a week. She's beginning to notice more muscle formation and movement in Jacob's back and left leg. 3 inches of more muscle than two weeks ago. I had actually marked his leg with a sharpie to measure the muscle growth.
11/18/2022
Today was the ALS clinic at Marshall University. Everyone is amazed at Jacob's health! He has gained weight and strength on a small scale in some parts of his body.
11/17/2022
We are seeing subtle changes. Jacob's core seems to be strengthening and his toes are wiggling a little bit.
10/24/2022
Back to Ohio State University! We are very excited about the possibilities with this drug. Still not sure if we are on a placebo or the actual protocol… since it's a double blind, I suppose we will never know.
09/07/2022
Today we met Paul Miles at Teays Physical Therapy. This meeting was to allow Jacob to test drive the EasyStand, which was recommended by the folks at Ottobock. Jacob had tried the "C" Brace at the BraceShop on July 20th, but the brace was too heavy for his weakened condition.
08/30/2022
Our son, Jacob, was diagnosed with ALS... this is our journey so far:
Jacob Harper, now 23, began showing signs of his diagnosis in November 2021. Initially, it was just a limp. We assumed the issue was related to a new pair of work boots. We replaced the boots, but the limp continued until, in January of 2022, Jacob had his first fall at church stepping off of the drum riser. The first time he stumbled was of no concern, but when it happened a second time, it was an indication of something being wrong.
Dr Clark Adkins, a physician at WV Ortho-Neuro examined Jacob and performed an MRI, which showed no issues. It was assumed Jacob had somehow damaged a nerve and that the nerve would likely heal before we were able to see a neurologist, this referral was made to cover all bases. Initially, it was assumed that getting into a neurologist would take up to six months.
Jacob was able to get into Marshall Neurology within 2 weeks. Dr. Jared Hollinger examined him and performed an EMG, nerve conduction study, and genetic blood test (from the Mayo Clinic).
On March 16, within three weeks of initially seeing Dr. Hollinger, we were given Jacob‘s diagnosis as ALS resulting from the FUS gene and a life expectancy of 1-3 years. At this time Jacob was walking with the assistance of a cane.
Our second opinion came a week later from Dr. Robert Neel at the University of Cincinnati. He was able to confirm Jacob‘s diagnosis within an hour of examination. It was Dr. Neel who suggested a clinical trial at the Ohio State University.
Dr. Stephen Kolb of the Ohio State University reached out to us the next day and scheduled a call with us on Friday March 25th (2 days after our Second opinion at the University of Cincinnati).
Dr. Kolb was extremely excited to speak with us and could not wait to get Jacob into the ION363/Jacifusen clinical trial. He explained the science behind treating a genetic form of ALS and further explained similar diseases such as spinal muscle atrophy, which had seen successful treatments using this science. Dr. Kolb explained that Jacob would have to be on another drug called Riluzole/Rilutek for 30 days before he could be in the clinical trial, so we started that drug immediately and began our wait. Mid April, we drove to OSU for evaluation and awaited approval from IONIS.
By the time we received our first treatment of ION363/Jacifusen, Jacob had lost the ability to walk without assistance from a rollater/walker and other muscle weakness had began to show, such as shoulders and arms.
We officially began treatment on May 9th 2022. Our second was June 6th, and our third was on July 25th.
We are extremely excited and blessed to say that Jacob’s progression seems to have slowed. His situation has not improved, but he has not deteriorated as quickly as the doctors had expected either. We are convinced that our faith, coupled with this amazing Jacifusen treatment is working and we are expecting a full recovery!
We are thankful for the relationships we have gained through this trial. We know God truly has this and we thank Him in advance for His miracles, grace and mercy!
Joshua 1:9
“…be strong and courageous! Do not be afraid or discouraged. For the Lord your God is with you wherever you go.”
I will continue to keep everyone informed and up to date on our progression throughout this journey.
08/13/2022
Today we hosted our first annual "Wheelin' for ALS" off-road ride. Thanks to our generous sponsors, we were blessed to raise over $10,000 for ALS research and ALS awareness.
Our ride this year was hosted at Hatfield & McCoy's Ivy branch Trail.
08/13/2022
Today with mark the last time Jacob was able to stand on his own. He stood for approximately 20 minutes at his FIRST ANNUAL "Wheelin' for ALS" ride at the Ivy branch Trailhead.
08/11/2022
I stopped at Sheetz in Hurricane, WV today to get a couple of drinks. Jacob got out of the car and was able to walk a short distance of approximately 5 yards, with the help of his rollator.
This would be the last time Jacob would be able to walk.
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!
06/12/.2022
Today, we were contacted by Lori Hermstad of Iowa. Lori is the mother of twins, Alex and Jaci Hermstad. Jaci was the first human to try the ION363 (JaciFUSen) drug.
Please take a moment to visit the links below and learn more about these two heroes! Join me in honoring their memory and the incredible battle they both fought against this monster, ALS!
(Lori, we love you)
https://www.goodmorningamerica.com/wellness/video/25-year-faces-form-als-twin-experimental-drug-63062078
https://www.goodmorningamerica.com/wellness/story/25-year-faces-rare-form-als-twin-experimental-63015031
At the time of the above article (May 15th 2019), Jaci was still fighting... sadly she succumbed to the disease on May 1st, 2020, just 15 short months after her diagnosis.
06/06/2022
Back to Ohio State University for Jacob's second dose of the clinical trial drug. This one is called the "loading dose".
At this point, Jacob is using a cane and is rapidly losing function in his legs.
05/12/2022
A friend and coworker of Barb's (Pam Ooten) volunteered her professional masseuse skills, to help Jacob maintain muscle mass and expel any atrophy. Dr. Kolb and Hollinger agreed that this was a good thing to do and certainly could not hurt!
This would be a our first massage today, and moving forward, it would be a once a week regiment from now on. Additionally, Jacob continues with physical therapy at Teays Physical Therapy.
05/09/2022
SPONSOR APPROVED!
Back to Ohio State University for Jacob's first dose of ION363, a.k.a. Jacifusen. The drug is administered via lumbar puncture. The doctor removed 20 cc of CSF fluid from Jacob's spine and replaced it with the ION363 protocol.
As with most clinical trials, there is a one in three chance that Jacob will not receive the actual medicine and be given a placebo instead. This particular clinical trial is a double blind. This means no one knows now, or ever will know, whether or not Jacob is/was on the actual protocol or placebo.
Phase 1 of the clinical trial will continue this way for the next year, or until Jacob declines to the point that rescue is necessary in order to save his life.
04/28/2022
Dr. Kolb confirms: It is definitely FUS-ALS. This initial consultation was perfect and Jacob met every qualification to be in the clinical trial, sponsored by Ionis Pharmaceuticals. We only need the sponsor's approval to join the program.
04/15/2022
Jacob's Ohio State University Medical Chart was created and an "in person" consultation was scheduled. This is where Dr. Kolb would give us another 2nd opinion and qualify Jacob for the clinical trial.
04/04/2022
Marco Tellez from OSU (Dr Kolb!'s admin) emailed me for Jacob's records from Marshall Health!
03/25/2022
The call with Dr. Kolb was absolutely amazing! He explained the clinical trial process and wanted to see Jacob to check him for the possibility of SMA s(pinal muscle atrophy). We were hopeful that the ALS was a misdiagnosis, since SMA behaves the same, but is now treatable. Truthfully, this was a longshot, but Dr. Kolb wanted to examine Jacob in person. He explained that Jacob needed to be on one of the available ALS meds for 30 days before we could start the clinical trial. Available medicines were Riluzole, Radicava or Nuedexta.
Dr. Hollinger recommended Riluzole. He felt Jacob would tolerate it much better than the alternatives.
Dr. Kolb explained that his administrator would be in touch with us to schedule our appointments.
03/24/2022
Dr. Kolb emailed me back within 24 hours and requested a live call with us on Friday, March 25 to discuss our options.
03/23/2022
Dr. Hollinger referred us to Dr. Robert Neel with the University of Cincinnati. Today we drove to Cincinnati Ohio for our meeting with Dr. Neel. He was able to confirm the ALS diagnosis within 20 or 30 minutes of a hands-on examination. Dr. Neil recommended a clinical trial for Jacob. He gave me the emaila clinical trial for Jacob. He gave me the email for Dr. Stephen Kolb of Ohio State University and was going to also give me the information for the University of Kentucky. One or both of those doctors. address for Dr. Stephen Kolb of Ohio State University and he was also going to also give me the information for the doctor at the University of Kentucky. One, or both, of these doctors were believed to be conducting a clinical trial for the exact genetic mutation affecting Jacob.
I emailed Dr Kolb at OSU before we left Dr Neel's office.
At this point, Jacob is using a cane for assisted walking in an attempt to offset his severe limp.
03/20/2022
We made the decision to announce our diagnosis in church today. We had upcoming appointments, one of which was to be a second opinion, so getting our church family behind us in prayer was our first priority
03/16/2022
Dr. Hollinger called to bring us into his office to discuss Jacob's genetic blood test.
When we arrived, we were taken straight back to a private room, where Dr. Hollinger disclosed Jacob's diagnosis. A generic form of ALS (amyotrophic lateral sclerosis or Lou Gehrig's Disease).
We were not sure what his diagnosis meant, so we asked the doctor. He told us that most people with this diagnosis live 2 to 5 years. As Barb and I cried, Jacob grabbed his head and shouted no! Then my wife and I watched a peace wash over him… and through all of this, he never shed a tear.
The specific diagnosis, which was revealed from the Mayo Clinic genetic blood test, was a mutation of the FUS Gene (Fused in Sarcoma)... We would later learn that the 2 to 5 year life expectancy was reduced to a 1 to 3 year life expectancy, due to the aggressive nature of this genetic mutation. Dr. Hollinger encouraged us to seek a second opinion, and recommended Dr. Robert Neel at the University of Cincinnati.
03/02/2022
We were unable to complete the genetic blood test yesterday, due to insurance approval. However, our insurance stepped up, so today we headed back to Cabell Huntington Hospital for the genetic blood test which would be sent to the Mayo clinic for analysis.
On our way back home, Jacob's employer called him and terminated him over the phone, after assuring him that his job was secure (just two weeks before). This is the first time Jacob has cried throughout this entire ordeal.
03/01/2022
Today, we traveled to Cabell Huntington hospital for Jacob's Nerve Conduction Study/EMG with Dr. Hollinger.
02/25/2022
We decide on Teays Physical Therapy for Jacob's PT, and we have our first appointment today with his new therapist, Ben!
02/16/2022
Dr. Jarred Hollinger at Marshall Health examined Jacob for the very first time. He prescribed physical therapy and scheduled an EMG and "light duty" at work for the next 30 days.
Jacob's employer forces him to take the time off, refusing to allow him light duty. They further ensure him that his job is secure and explained that they are only concerned with his safety.
01/28/2022
Marshall Neurology called and scheduled Jacob's first appointment for February 16, two weeks after our last appointment with Dr Adkins, and almost 6 months sooner than the expected appointment!
01/27/2022
I went with Jacob back to West Virginia Ortho Neuro for the results of the MRI. Dr. Adkins stated that the MRI showed no issues. He believed it to be a damaged nerve, but to be as thorough as possible, scheduled Jacob with a neurologist as a precautionary measure. He explained that it could take up to six months to see a neurologist. It was very likely that the problem would heal itself by the time we actually received an appointment. He told us if that happened, just tell them we no longer need our appointment.
01/19/2022
Today, Jacob drove himself to Charleston Surgical Hospital where they performed an MRI. The results will be sent to Dr. Adkins as soon as they are available.
01/03/2022
Per Dr. Adkins' request, I called Kim at his office, and she was able to schedule Jacob's appointment for the same day. Dr. Adkins examined Jacob and scheduled him for an MRI.
01/02/2022
Jacob fell at church today. He was stepping down from the drum riser and hit the floor. This, along with the limp, prompted us to contact Dr. Clark Adkins, of West Virginia Ortho Neuro. Clark wanted to see Jacob, so he asked me to call Kim at his office and schedule an appointment.
