Stories that inspire
Although nano-rare patients may be one in the world, they are part of our nano-rare community. Meet these nano-rare patients and learn about their unique diagnostic journeys.
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Shortly after Susannah was born, her parents noticed abnormalities in her leg movement, signaling something was extremely wrong. Their sweet little girl was later diagnosed with a frightening and debilitating nano-rare disease, KIF1A, resulting in a significant movement disorder, seizures, and speech and vision challenges. She also experiences an inescapable neuropathy in both her hands and feet that cause deep and painful burning sensations.
However, nothing can stop Susannah from shining a light on the world with her beautiful smile, positive outlook, and sincere devotion to loved ones. Just when life starts to get those around her down, she wraps her strong arms around them for a “Ginormous Suz Hug.” Those hugs are perfect. She inspires her family to live in the moment, get out of their comfort zone, sing at the top of their lungs and laugh until it hurts.
UPDATE: Susannah received her first dose of a personalized experimental ASO medicine in October 2022. This medicine was discovered and developed for her unique gene mutation.
Tristan was born after a normal pregnancy in 2019. From the minute his parents saw him, they thought something looked a little off about his eyes. As none of the doctors or nurses mentioned anything, they took him home and assumed he was fine. At four months old, they started noticing some slight delays and got him into early-intervention therapies, assuming he would “catch up,” as many children do. After a year of multiple rounds of testing, they got the devastating diagnosis: a nano-rare KCNH1 genetic mutation characterized by epilepsy, profound intellectual disability, and severe speech and movement disorders.A month after Tristan was diagnosed, he had his first utterly terrifying seizure. Tristan can have seizures as a result of even the mildest illness. When he seizes, he completely stops breathing and it takes him 1-2 weeks to recover each time. The biggest impact of Tristan’s mutation is on his cognitive abilities. He can’t so much as point to something to show what he wants. His cognition was rated in the <.1 percentile with impairment so severe that many therapists have no clue how to help him.
His parents’ biggest dream is for their family to be free of the constant fear of seizures, for Tristan to be able to share what’s going on in his little head, and for him to be able to enjoy activities with his brothers rather than just watching them!
“Thanks to Lena’s acceptance into n-Lorem, hope became tangible, tangible like never before and this hope can be counted in months rather than decades. While the most experienced ASO team in the world is working on personalized treatment for Lena, we’ve also decided to add something from ourselves – we’ve opened PACS2 Research Foundation (www.pacs2research.org) with aim to understand mechanism of action of this disease and contribute to the rare-disease community.”
Up until 3 months of age, Lena developed normally. She was a little bit weaker than average but being twin and premature baby was a simple explanation for this. Her family’s life changed irrevocably on the day of Christmas, 2021. Lena woke up and, out of nowhere, had her first seizure. Three days later, she was in the hospital with status epilepticus and experienced 30 grand mal seizures in 48 hours…
Despite being devastated, her parents acted fast and in Feb 2022 (thanks to DNA sequencing) she was diagnosed with a single-point mutation in the PACS2 gene, a nano-rare disease with only dozens of cases diagnosed worldwide. She struggles with epilepsy, intellectual disability, global development delay and autism spectrum.
Lena has committed countless hours towards various therapies helping her to improve on motor, social and speech skills. Despite them, she is behind in many areas, which is especially heart-breaking for her parents as they observe how she cannot keep up with her twin sister’s development and crazy ideas.
When Lena’s parents found out about n-Lorem, they knew it would be an amazing opportunity for their daughter. Putting the petal to the metal, a few weeks after Lena’s diagnosis, her application was submitted to n-Lorem by the amazing Dr. Wendy Chung from Columbia University.
While this is an incredibly challenging disorder, Sloane keeps everyone around her motivated and reminds them it’s about focusing on the now and celebrating the little wins, like recently learning to army crawl!
When Ireland was 6 months old, she had her first generalized tonic clonic seizure, which led to an epilepsy diagnosis and genetic testing. The testing revealed a CACNA1A pathogenic variant, of which the effects have been absolutely devastating. Her parents were told that no targeted treatment options were available as she was the only known case of her unique variant, classifying her as nano-rare.
Ireland presents with cerebellar ataxia, a convulsive seizure disorder with status epilepticus, developmental delays, apraxia of speech, hemiplegic migraine, and autism. Her biggest challenge is poor seizure control, despite trying a long list of AEDs, the Modified Atkins Diet, Epidiolex (CBD) and a VNS (vagus nerve stimulator) device. Ireland’s seizures are severe, never stopping without multiple rescue medications. She can completely stop breathing, requiring immediate airway intervention and support. Ireland has been intubated 9 times for status epilepticus. Between recovering from massive neurological events and frequent medication changes, Ireland often feels pretty terrible. Her family dreams of the precious day that personalized experimental ASO medicine allows her to take steps towards returning to her sweet, happy feel-good self.
Ireland works very hard in PT, OT, Speech and ABA therapies. She is able to walk, hop, climb, feed herself, and speak in single words. She continues to make developmental progress, despite setbacks caused by seizures. She has a supportive village of family and friends who dream of a treatment to reduce the heavy burden caused by her genetic variant.
“We know that Alya has so much unlocked potential with plenty to give to the world. We are deeply grateful to the n-Lorem Foundation for giving us the hope that there is a possibility, with an ASO treatment, to see Alya thrive in her life and achieve her full potential. We hope that one day Alya’s seizures are suppressed, that she’ll speak to us with real words, and that she will become independent, especially when we are no longer alive to care for her. We also have a lot of hope that Alya’s treatment will be successful, and she will be a pioneer in helping to bring this potentially life-changing treatment not only to other individuals with PACS1 syndrome but to the broader rare disease community, which is in desperate need of such treatments.”
When Alya was 5 weeks old, she suddenly started to have uncontrollable seizures, one after another, and was rushed to an emergency room where she was hospitalized for a week. Initially, MRIs and genetic testing didn’t reveal anything. So, her family felt they were forced to hope that things would resolve themselves and that she would live a normal life. Her family continued to fight for a diagnosis and, at age 3, a full-exome sequencing test revealed a nano-rare disease called PACS1 syndrome. The family was told that there were no treatment options available and to do their best to manage the symptoms.
Alya was significantly delayed in everything: she smiled late, she walked late, and still, at age 9, has only 3 spoken words – for her 3 favorite people, “mama”, “papa”, and “Krish”. She continues to have significant intellectual disability, motor delays, epilepsy (even with a ketogenic diet and multiple medications), is not toilet trained, cannot feed herself, and as it stands now, she will require life-long care in the most basic areas of life (such as feeding and safety). She has been through thousands of hours of therapies, 19 electroencephalograms (EEGs) since she was born, and countless procedures. Yet, she is smiling.
“The most sincere, heartfelt thank you to all of the scientists, doctors, researchers, companies and donors that have turned a hopeless situation into so much possibility and potential for Connor, his brothers and me. And it is all happening now – in my son’s lifetime – and for that, I am eternally grateful.”
After whole exome sequencing, he was diagnosed with a mutation in the SCN2A gene, which is the cause of all his debilitating symptoms and endless suffering. His family was told, “We don’t know much about this disease, and we have nothing new to offer you. In 100 years from now, we will have learned to silence the mutated gene, but not in your son’s lifetime”. It was a hopeless situation.
Fast forward eight years – advancing an enormous amount of research into SCN2A mutations, and Connor’s family meeting n-Lorem founder and CEO, Stan Crooke. Today, because of n-Lorem, Connor’s family is counting down the months until Connor receives his ASO, a treatment designed and tailored to his specific mutation.
Margot was born healthy with no complications in 2021. At 3 months old, she started having focal seizures and needed genetic testing. The testing revealed a diagnosis of a new de novo mutation in the SCN8A gene. Margot is the only known patient with her specific mutation, making her nano-rare.
Since diagnosis, Margot has developed infantile spasms, a catastrophic type of epilepsy. She has been on 11 anti-epileptic drugs, but still has up to 80 tonic and clonic seizures a day. The SCN8A gene regulates many functions that involve the brain. As a result of her mutation, Margot’s muscles don’t work well either: she has low muscle tone and cannot control her head or sit up. She also has cortical visual impairment, meaning her brain cannot process visual input, and has trouble seeing. Margot powers through 7 hours of therapy each week to work on various skills and strengthen her body.
n-Lorem brings Margot’s family hope for their precious baby girl and for all other patients affected by nano-rare diseases.
Heidi’s symptoms began 12 years ago with urinary problems. That, and the extreme fatigue she was experiencing, caused her to retire from public school teaching near the end of 2016. Her symptoms progressed to tingling and pain in the legs and feet. She consulted numerous doctors for her symptoms unsuccessfully for years before, in 2018, a neurologist finally ordered an MRI of the brain and spine. The results of the MRI (leukodystrophy, atrophy) were bewildering: abnormal, but not typical of what is seen in multiple sclerosis. Puzzled, the neurologist referred her to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health.
After many tests, the UDP diagnosed her with Adult Polyglucosan Body Disease (APBD), a genetic disorder which typically manifests in one’s 50s. They told her that not only did she have this very rare disease, but that she also suffers from a nano-rare variant of the disease. There are currently no treatment options for APBD.
Heidi exists in constant, severe daily pain. She relies on a walker or wheelchair to get around the house and cannot drive anymore. Her leg strength and function continue to decline, while her pain continues to increase. She also suffers from extreme daily fatigue. She has tried numerous experimental pain treatments to no avail. Heidi has also experimented with a restrictive diet for the past two years in an effort to slow the disease progression. It is unclear whether or not the diet is effective. She voluntarily shares all of her medical data with a researcher looking for additional clues to her disease’s pathology.
Prior to the onset of APBD, Heidi was a very active and dynamic person. She was a college athlete (swimming) and continued to swim, do yoga, and exercise as an adult — until the illness made that impossible. These days, she doesn’t go out much and doesn’t see friends as she used to. An extraordinarily self-sufficient and giving person, the disease has taken away her independence and challenged her confidence. At this point, even having the energy to eat is a challenge. Once a prolific painter, she is no longer active in her studio and does not paint or draw. Playing with her grandchildren or taking them places is difficult or impossible. While she can still use her hands, she is terrified of losing that ability and more.
Heidi lives in hopes of an effective ASO treatment for APBD, one that will improve the quality of her life and the lives of others living with the disease as well. Slowing or reversing the course of the disease would change her life. Because the disease is genetic, she worries that her children or grandchildren will suffer from it as well. At this time, one of her adult children may be exhibiting early symptoms of APBD. She hopes that any effective ASO for treatment for APBD will help the many others who suffer from glycogen storage diseases.
In November 2019, Anna, now 15 years old, began to speak in a strange way: After every second or third word, she took a deep breath. Her mother thought she might have developed a tic and, to be honest, she wasn’t too worried. However, since Anna constantly had severe headaches – combined with nausea and vomiting – after sports and at the end of a long school day, her mother was concerned.
The doctors consulted were faced with a puzzle: various diagnoses followed over the next few months: hormonal disorders, psychosomatic problems, allergy, myasthenia … none of them applied. Meanwhile, Anna became increasingly weak, she fell asleep at the table during the day, she could no longer hold her head up, and short distances on foot already tired her enormously.
On October 20th, 2020, the family’s world collapsed: a genetic diagnosis had been made and they received the diagnosis: amyotrophic lateral sclerosis (ALS) caused by a rare mutation in a gene that causes a severe, aggressive form of ALS. The family was devastated. Week after week, Anna lost other functions: speaking, swallowing, moving, facial expressions, gestures – everything decreased. In early November 2020, Anna underwent a percutaneous endoscopic gastrostomy (PEG), which increasingly became the only way she could feed herself. The family was desperate, but they didn’t want to give up.
Through Anna’s grandfather, a former family physician, and his friend, a professor of genetics in Newark, the family came into contact with Dr. Neil Shneider, a leading ALS researcher and physician. Dr. Shneider was instrumental in the administration of an experimental ASO that was discovered and developed for Jaci Hermstad. Jaci Hermstad was a true heroine, and despite living longer than expected, she sadly progressed from her disease in the spring of 2020. As it turned out Jaci and Anna shared the same aggressive form of ALS. As treatment was not possible in Germany, Anna and her mother flew from Germany directly to New York on December 12th, 2020, where Anna received the first dose of JaciFUSen, named after Jaci, on December 15th, 2020 at the Columbia University Irving Medical Center/The Neurological Institute of New York/New York Presbyterian Hospital. The openness, warmth and empathy that Dr. Schneider and his team welcomed them with was overwhelming. With Anna, the team felt that they had an opportunity to treat at an earlier stage in disease and that they would get the chance to do everything possible for Anna.
Anna wants to prove that not only can you survive with ALS, but you can also live a good life. She does this for herself, for her family and friends, for her beloved dog Snoopy, for Neil, for Dr. Stanley Crooke and all the doctors and therapists who believed in her,’ and especially for Jaci Hermstad, her personal heroine, whom she would have loved to meet and speak to.
The purest example of Mostyn’s character emerged in the spring of 2021. Mostyn’s parents were taking him to quite a few baseball games. He was so excited to be back in ballparks after the loosening of Covid-19 restrictions and had become pretty much obsessed with getting a game ball. Mostyn and his parents were at a game sitting about fifteen rows above the New York Yankee’s dugout. There was another little boy and his father at the end of the row. The boy was a young teen and Mostyn was nine. The boy was very sharp, and he knew most of the players’ names in Spanish and English. He collected four baseballs by running up and down the aisle and calling for a ball each time the players came off the field. Near the end of the game, the Yankees were returning to their dugout when their first baseman, Luke Voit, threw a ball towards Mostyn. His father caught the ball and handed it to Mostyn, as the crowd let out a nice applause. Mostyn hobbled down the row toward the boy and his father. They looked at Mostyn, but he did not say anything. Mostyn took the ball out of his glove and put it in the boy’s glove. The father told the boy, “No, you cannot keep that ball” so the boy handed it back to Mostyn. But, Mostyn put the ball back in the boy’s glove before turning and walking away. The crowd erupted with emotion and many people came up to meet Mostyn at the games thereafter.
On a good day, many people would not realize Mostyn has suffered thousands of seizures. He has been on extremely high doses of at least three anticonvulsants, exclusive of rescue medications, has had multiple reconstructive surgeries on his legs and feet, has learned to walk four times, and he has a feeding tube. On a tough day, Mostyn fights as hard as he can to stay alive. He convulses over and over, his oxygen level drops, he turns blue, chokes, vomits, wakes up with ringing in his ears, loses his coordination and his ability to walk, and he gets very scared. The rescue medications compound the side effects of his daily medications, despite additional medications to counterbalance them, which have even more side effects. The medications can suppress his blood pressure, heart rate, and his ability to breathe on his own. Even slight adjustments can have major impacts on Mostyn’s emotions.
Mostyn is an only child. His parents have been extremely dedicated to his wellbeing, even prior to his birth. During pregnancy, his mother was diligent with her diet, took prenatal vitamins, avoided alcohol and fish, and drank plenty of water. Mostyn was delivered naturally with no drugs, precisely on his due date. At birth, his parents opted for optional genetic testing that was offered to them. Everything seemed to be in order and Mostyn and his mother were discharged after spending just one night in the hospital.
Mostyn was a wonderful baby. He had a good appetite and an amazing personality. He was a little slow to start walking, but his pediatrician assured his parents that everything was fine and boys sometimes take longer than girls to start walking.
When Mostyn was three, it was clear he had some developmental delays. His parents took him to a neurologist who ordered an electroencephalogram (EEG) and a brain MRI. The EEG presented some abnormal activity, but neither the MRI nor the doctor yielded any further explanations. Mostyn presented signs of cerebral palsy, hypotonia, and dyspraxia.
By the age of four, he was already in over ten hours of therapy each week: occupational, speech, and physical. Despite this, his gait was abnormal, and his wrists were weak and floppy. Kids started calling him names and making fun of him, while adults said far more hurtful things. His parents tried many things to help him like massage therapy, electrical nerve stimulation, and kinetic tape but nothing seemed to work very well. Then, one day, his father came home with a baseball glove for him, and they started playing catch every day. Beyond strengthening his wrists, Mostyn fell in love with the game of baseball, and has been wearing a baseball glove every single day for over seven years now.
Even at the age of five, speech was difficult, but he worked very hard with speech therapists to expand his vocabulary to nearly one hundred words. He was able to walk, run, climb stairs, speak, swallow, eat and drink. Then, on New Year’s Eve in 2016, Mostyn suffered an extremely violent tonic clonic seizure that lasted several minutes. Within a few weeks, he was having over thirty tonic clonic seizures a day. Mostyn’s parents took him to an emergency room, and he was later transferred to the epilepsy floor. After a couple days, a doctor came to Mostyn’s room and informed his parents that he had Lennox Gastaut Syndrome. His father asked what that meant and what his life expectancy would be. In tears, the doctor left the room. By the time Mostyn was discharged from the hospital several days later, Mostyn could no longer stand on his own. He was having tonic clonic, absence, atonic and myoclonic seizures. His parents took him home, covered all of their windows, barricaded their front door, turned off all of the lights, televisions, radios and tried to avoid any sort of stimulation, but the seizures continued. Mostyn had multiple additional EEGs, another brain MRI and multiple genetic panels performed that provided no clear answers.
His parents continued to seek the underlying cause of Mostyn’s severe refractory epilepsy, rather than settle for treatment of his symptoms. They took Mostyn to Boston Children’s Hospital, where his new neurologists were able to identify the cause of Mostyn’s epilepsy and other neurologic symptoms – a unique de novo heterozygous mutation of a gene called KCNB1. Mostyn is currently the only known case in the world with his variant, making him nano-rare. There are currently no treatment options for Mostyn’s condition, and he continues to decline. However, Mostyn and his family hope and pray that, one day, an ASO can be discovered and developed just for him.
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We understand that being nano-rare often means that each patient is alone in their unique disease, alone in their suffering and isolated from the healthcare community. We want to change this by empowering our nano-rare patients.
The Patient’s Journey
Developing a personalized ASO treatment plan
At n-Lorem, our mission is to treat the patients we can today. By working closely with our research physicians and their institutions, we discover, develop and provide personalized experimental ASO medicines to nano-rare patients for free, for life. This journey begins with a research physician submitting an application to treat for their patient to n-Lorem.
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Nano-rare describes a patient that, because of their unique gene mutation, will be only 1 to 30 patients worldwide with that exact mutation. Most nano-rare patients have a single gene mutation that causes a cluster of symptoms that can affect their health. Many of these single gene mutations lead to degenerative conditions or even death.
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