Katie and Jacob Lamprecht are doing what they can to buy more time for their three children, all of whom have a rare degenerative illness that has no cure.
Last fall, 10-year-old Kiara Lamprecht and her eight-year-old sister Hannah were diagnosed with juvenile neuronal ceroid lipofuscinoses also known as CLN3 or juvenile Batten disease.
Then five-year-old AJ, theirhalf-brother,was also diagnosed with the illness last month.
As the parents scour research seeking potential treatments, fundraisers are underwayto allow the family to afford them.
"Time is of the essence. We don't have years and years and years to figure this out," said Katie Lamprecht from the family's home in Evansburg, Alta.,about 90 kilometres west of Edmonton.
Batten disease, an inherited and fatal genetic illness, has various forms. In this case, it's caused by a mutation that results in cells not producing enough of the CLN3 protein that helps clear waste products. Over time, toxins build up and brain cells start to die.
Symptoms usually start showing in children aged four to seven. The first is often vision loss, followed by changes in cognition and behaviour, seizures, then declining motor skills.
Those with the disease will die in their teens or 20s.
CLN3 is a rare condition in Canada, according toStphane Lefranois, researcher professor at the Institut National de la Recherche Scientifique in Quebec.
Juvenile Batten disease develops when a child inherits two copies of the genetic mutation from their parents, each of whom would be carrying one defective gene. Because two defective copies are needed for Batten disease to develop, the parents would not be affected, said Lefranois.
The mutation's prevalence varies throughout the world. In some regions,it shows up in one of 12,000 live births; in others, it's found in one of 100,000 births, he said.
It's"quite rare" that sisters Kiara and Hannah were diagnosed with the disease,said Lefranois, but theodds of AJ's diagnosisgiven he has a different motherare "astronomically low."
Jacob Lamprecht moved to another part of the world andmarried Katie, an unknowing carrier,and AJ inherited both mutations. The Lamprechtshave been told the chance of their situation occurring is about one in eight billion.
According to the parents, both girls are legally blind. AJ's eyesight is worsening but he hasn't had a vision test yet.Hannah has developed behavioural issues, with episodes of kicking, screaming and biting.Abrain scan conducted last year shows she has sufferedsome brain damage and is experiencing seizures, said her father.
So far, over $113,500 has been raised for potential treatments. But the parents are unsure about their next move.
"There's nothing concrete that we can follow," said Katie Lamprecht.
There is currently no cure for CLN3, so most treatment just manages the symptomslike medications for seizures or Braille instruction for children losing their vision, said Dr. Jonathan Mink, CLN3 researcher and a professor of pediatric neurology at New York's University of Rochester.
But clinical trials in the United States some completed, some ongoing are makingheadway, he said.
Among them are clinical trials for gene therapy, a technique that modifies a person's faulty genes to help cells function normally.
"The hope is, particularly with gene therapy, that we could give something to a very young child and that would correct the problem and they never have any symptoms," said Mink.
The Lamprechts are looking at gene therapy, which is deemed an experimental treatment option by Health Canada, as well as a stem cell operation. The latter is a last resort, they said, requiringtravelto the U.S. and a cost ofabout $1.8 million per child.
Some people have undergone such operations, but Mink would advise against it because there aren't many published results and, through his clinical practice, he hasn't seen any significant improvement in patients.
Undergoing a stem cell operation might also disqualify a child from future clinical trials or treatments, he added.
After the initial diagnosis, families often go through the stages of grief before focusing on giving their child the best possible quality of life for their remaining years, said Mink.
Families who have more than one child with the disease feel a greater impact, but Mink and his team are "so impressed by how resilient people are."
Jacob and Katie Lamprecht are among the resilient, savouring moments with their children while focusing on how to save them.
COVID-19, for example, became an opportunity for Katie Lamprechtto embracefull-time homeschooling, lettingher be with them every day.
Kiara has been approved for Make-A-Wish Canada, so the family is debating whether to visit SeaWorld or Disney World.
"We're not just sitting around crying all the time," said Katie.
"Most of the time I feel like we're going to beat this."
Excerpt from:
'Time is of the essence': Alberta family seeking treatment for 3 kids with rare, degenerative illness - CBC.ca
- New Atlas of Rare Stem and Progenitor Cells Reveals New Cell Types - Inside Precision Medicine - March 28th, 2024
- Instructing iPS cell-derived mesenchymal stem cells to inhibit abnormal bone formation in FOP - Medical Xpress - March 28th, 2024
- GLP podcast: GE crops have lived up to the hype; Growing 'mini' organs from stem cells; How do we solve right-wing ... - Genetic Literacy Project - March 28th, 2024
- Exosomes and Stem Cells Are the Future of Anti-Aging - NewBeauty Magazine - March 28th, 2024
- Stem cells: past, present, and future - PMC - National Center for ... - March 19th, 2024
- Stem cells: a comprehensive review of origins and emerging clinical ... - March 19th, 2024
- Biology of stem cells: an overview - PMC - National Center for ... - March 19th, 2024
- What are Stem Cells? - Types, Applications and Sources - BYJU'S - March 19th, 2024
- Stem Cell - The Definitive Guide | Biology Dictionary - March 19th, 2024
- Colossal Creates Elephant Stem Cells for the First Time in Quest to Revive the Woolly Mammoth - Singularity Hub - March 19th, 2024
- Florida congresswoman sued the Pentagon over stem cells. One problem: her husband's stocks - Raw Story - January 23rd, 2024
- Can Stem Cells Improve Knee Pain or Are They A Waste of Money? - Bloomberg - January 23rd, 2024
- Stem cells used to successfully treat arthritis in gorilla at Budapest zoo - University of Sheffield News - January 23rd, 2024
- A computational model of stem cells' internal mechanism to recapitulate spatial patterning and maintain the self ... - Nature.com - January 23rd, 2024
- Advancing the generation of in-vivo chimeric lungs in mice using rat-derived stem cells - EurekAlert - January 6th, 2024
- 'I couldn't just give up on my dad' | Round Rock son donates stem cells to father battling leukemia - KVUE.com - January 6th, 2024
- Closing in on the ultimate quest to regenerate insulin in pancreatic stem cells - Medical Xpress - January 6th, 2024
- Ask the doctors: Research being conducted on using stem cells to treat diabetes - The Spokesman Review - January 6th, 2024
- Regenerative Medicine and COPD: Generating Functional Lungs from Pluripotent Stem Cells - Medriva - January 6th, 2024
- What is a stem cell? YourGenome - December 2nd, 2023
- Stem cell transplant - NHS - December 27th, 2022
- Stem cells: a brief history and outlook - Science in the News - December 27th, 2022
- RUDN Physician And Russian Scientists Investigate Long-term Effects Of Treating Diabetic Ulcers With Stem Cells - India Education Diary - December 27th, 2022
- Stem Cell Basics | STEM Cell Information - National Institutes of Health - December 2nd, 2022
- Neural stem cell - Wikipedia - November 24th, 2022
- Donate Stem Cells | Bone Marrow Donation - American Cancer Society - November 24th, 2022
- Stem Cells- Definition, Properties, Types, Uses, Challenges - November 6th, 2022
- Brothers from Karnataka, Prapul and Prajwal donated their stem cells, save two blood cancer patients - APN News - November 6th, 2022
- Getting These Stem Cells Treatments: Crippled Ronnie Coleman Gives a Positive Update on His Ability to Walk - EssentiallySports - October 21st, 2022
- Cornell Prof Explains Relevance of Creating Mouse Embryos from Stem Cells - Cornell University The Cornell Daily Sun - October 13th, 2022
- Human neuron clusters transplanted into rats offer new tool to study the brain : Shots - Health News - NPR - October 13th, 2022
- The neuroprotective effects of dental pulp stem cells and erythropoietin in mice hippocampus after ischemia-reperfusion - Newswise - October 13th, 2022
- A $7 million grant to grow stem cell research - Swinburne University of Technology - October 13th, 2022
- Stem Cell Manufacturing Global Market Report 2022: Widespread Product Utilization in Effective Disease Management, Personalized Medicine, and Genome... - October 13th, 2022
- Brennand named Elizabeth Mears and House Jameson Professor of Psychiatry - Yale News - October 13th, 2022
- American Academy of Stem Cell Physicians to Offer Licensed Physicians Board Examination in Regenerative Medicine - BioSpace - October 13th, 2022
- Stem Cells - alsa.org - October 4th, 2022
- Mouse embryo models built from stem cells take shape in a dish - Nature.com - October 4th, 2022
- Growth in Cell and Gene Therapy Market - Pharmaceutical Technology Magazine - October 4th, 2022
- Therapeutic Solutions International Identifies CD103 Expressing Dendritic Cells and Exosomes Thereof as Novel Mechanism for JadiCell Mesenchymal Stem... - October 4th, 2022
- Aileron Therapeutics Announces Oral Presentation of Non-Clinical Data Demonstrating ALRN-6924 Protected Human Hair Follicles and Their Stem Cells from... - October 4th, 2022
- Research Shows Promise for Directing Later Lines of Therapy for Hodgkin Lymphoma - Targeted Oncology - October 4th, 2022
- Hereditary E200K mutation within the prion protein gene alters human iPSC derived cardiomyocyte function | Scientific Reports - Nature.com - September 25th, 2022
- How To Eat Your Way to Better Health According to a Doctor - Eat This, Not That - September 25th, 2022
- Phio Pharmaceuticals Announces Preclinical Data Demonstrating PH-762 Enhances Persistence of T cells for Tumor Cell Killing as Presented by Helmholtz... - September 25th, 2022
- Types of blood cancer: Leukemia, lymphoma, and more - Medical News Today - September 25th, 2022
- September: er-blood | News and features - University of Bristol - September 25th, 2022
- Here Is Why You Heal Slower As You Age - Health Digest - September 25th, 2022
- Global Single Cell Analysis Market is Projected to Grow at a CAGR of 15.1% By 2032: Visiongain Reports Ltd - Yahoo Finance UK - September 25th, 2022
- Findings explain exceptional auditory abilities in Williams-Beuren Syndrome - EurekAlert - September 25th, 2022
- Finding the potency in planarians | Communications Biology - Nature.com - September 16th, 2022
- Life-Saving Innovations in Cancer-Fighting Stem Cell Transplants and Pioneering Research in HIV, Autism and Cerebral Palsy to be Featured at World... - September 16th, 2022
- Treating Cancer with Oncolytic Viruses - BioPharm International - September 16th, 2022
- Israel's Profuse Technology Raises $2.5M for Technology That Lowers Cost of Cultured Meat - The Spoon - September 16th, 2022
- Stem Cells Used to Grow Mouse Embryo - BioTechniques - September 8th, 2022
- Largest Gift in UCSD History to Fund Stem Cell Research on Space Station - Times of San Diego - September 8th, 2022
- Global Induced Pluripotent Stem Cells Market (2022 to 2027) - Growth, Trends, Covid-19 Impact and Forecasts - ResearchAndMarkets.com - Business Wire - September 8th, 2022
- Health on the Frontlines: The Healing Power of Stem Cells - Dans Papers - September 8th, 2022
- Top 3 grants in regenerative medicine: July 2022 - RegMedNet - September 8th, 2022
- Childhood leukemia treatment 2022: Where we are now and what it takes - EurekAlert - September 8th, 2022
- Treatment Choices for AML Were Increasingly Influenced by Immunological Responses - Physician's Weekly - September 8th, 2022
- BioRestorative Therapies to Present at the H.C. Wainwright 24th Annual Global Investment Conference on September 14 - StreetInsider.com - September 8th, 2022
- Global Recombinant Cell Culture Supplements Market Report 2022: Increasing Need for Immunotherapies and Stem Cell and Regenerative Medicines Presents... - September 8th, 2022
- CAR-T Beyond CGTs In Development In 2022 - BioProcess Online - September 8th, 2022
- ADOCIA Announces First Cell Therapy Preclinical Proof of Concept of AdoShell Islets for the Treatment of Type 1 Diabetes - Business Wire - September 8th, 2022
- Synthetic Mouse Embryo with Brain and Beating Heart Grown from Stem Cells - Genetic Engineering & Biotechnology News - August 30th, 2022
- Utilization of Modified Induced Pluripotent Stem Cells as the Advance | OPTH - Dove Medical Press - August 30th, 2022
- Rise In Number Of CROS In Various Regions Such As Europe Is Expected To Fuel The Growth Of Induced Pluripotent Stem Cell Market At An Impressive CAGR... - August 30th, 2022
- Brush Up: Hematopoietic Stem Cells and Their Role in Development and Disease Therapy - The Scientist - August 30th, 2022
- Regenerative Properties of the Newborn Heart Offers Hope for Those With Congenital Heart Disease - The Epoch Times - August 30th, 2022
- Kanpur hospital is Indias first to perform fat-derived stem cell transplant for diabetic patients - India Today - August 30th, 2022
- Scientists Just Genetically Edited a Million Years of Evolution Into Mouse DNA - ScienceAlert - August 30th, 2022
- Canadian Blood Services Stem Cells for Life - August 22nd, 2022
- Scientists say they have created 'embryos' without sperm or eggs - Medical News Today - August 22nd, 2022
- Many stem cell lines used for research and therapies carry large number of mutations, Cambridge researchers find - Cambridge Independent - August 22nd, 2022
- Scientists hope to revive extinct mammal through stem cells and gene-editing in a first - The Mirror - August 22nd, 2022
- Stem cell therapy in capsule form - Malaya - August 22nd, 2022
- Cell Culture Technician Pluripotent Stem Cell Biology and Genome Editing job with UNIVERSITY OF SOUTHAMPTON | 305107 - Times Higher Education - August 22nd, 2022
- Long COVID-19 and other chronic respiratory conditions after viral infections may stem from an overactive immune response in the lungs - The... - August 5th, 2022
- Self-organized anteroposterior regionalization of early midbrain and hindbrain using micropatterned human embryonic stem cells - Newswise - July 27th, 2022