Is your child newly diagnosed with MLIV? Please click here and complete the contact form so we can find out more about you.
Where can I go for support?
We welcome you to the ML4 Families on Facebook group so you can meet parents just like you! https://www.facebook.com/groups/311651934161
This closed group welcomes MLIV families around the world. Feel free to introduce yourself and your family, ask questions, and meet new friends who understand your journey. Please ask to join and we will admit you.
Also, we encourage you to look around the Courageous Parents Network. This incredible site is for parents and doctors with rare children and houses videos from hundreds of families on all topics. You will find a tab called NeuroJourney particularly useful for parents of children with a neurological disease.
What causes this disease in my child?
Your child has inherited two mutated alleles, one from each parent. An allele is part of a gene—two are needed to form a gene. These inherited mutations have caused a genetic mutation in one gene, p19. Genes in our body make proteins. When a gene is mutated, it doesn’t make or doesn’t make enough of a protein the body needs. In the case of MLIV, the gene p19 codes for a protein called mucolipin, also called TRPML1. The TRPML1 protein is responsible for opening and closing a very important channel on cell walls. When that isn’t working, the cell becomes highly dysfunctional. That dysfunction is what, especially over time, causes the neurological delays and difficulties your child experiences.
Children with MLIV typically have a delayed but steady growth curve over the first decade of life. While they may not meet all developmental milestones (many children with MLIV do not walk or talk, for instance), they continue to acquire skills throughout the first decade with the assistance of therapies. Into the second decade, some children find that spasticity becomes challenging, making some skills more difficult to maintain. Many parents, even during the first year, use Botox and Baclofen for spasticity control.
Your child might have been diagnosed because of corneal clouding. This feature of the disease will likely remain present and not worsen significantly, nor will it likely intervene with your child’s vision enormously. We do not recommend treating the corneal clouding: the nature of the clouding is systemic, and it will reoccur. The main ocular concern in MLIV is the retina: usually in the second decade retinal degeneration begins. This will eventually lead to blindness.
How do you treat this disease? Is there a cure?
Unfortunately, there are no treatments available. We do recommend many therapies which can improve your child’s quality of life and functioning. The ML4 Foundation has been working with exceptional scientists to create a gene therapy treatment for the past years. This treatment would insert a functional copy of the p19 gene into the body so the protein that is not working could be available. In addition, there are several scientists working on small molecules (oral or injectable drugs) that could be helpful in MLIV. One of these works by increasing the activity of a different cellular channel to compensate for the TRPML1 channel. Another set of drugs are looking at increasing the activity of TRPML1 in those patients who have some but not enough protein available. These are all exciting possibilities in development.
What can I do to help my child?
There are many ways that you can assist your child’s growth and development. We encourage you to look at the clinical care guide on our site. Early interventions with physical and occupational therapy as well as speech and swallow therapy play a tremendous role in helping your child reach their potential. Iron supplementation may be useful, although some children never absorb iron, even with steady supplementation.
Are there experts who can help my child?
The team of specialists at Massachusetts General Hospital situated in the department of neurology has recently conducted a three-year comprehensive natural history study of MLIV and has seen more people with MLIV than anyone in the world. This team, led by neurologists Dr. Patricia Musolino and Dr. Mandy Nagy, along with physical medicine and rehabilitation specialist Dr. Brian Wishart, coordinates with experts in physical therapy, speech and swallow, and neuropsychology to assess your child fully. Anyone wishing to connect with them can email musolinolab@mgh.harvard.edu.
