Our story:

Our first indicator that something was wrong was at our 20-week ultrasound. We were told Nico had a thickened nuchal fold and were advised to get an amniocentesis. We heavily weighed this decision but ultimately decided that the information would help us plan for our little man's future. All of the genetic testing they ran at that point came back normal. We were able to breathe again. Soon after, during a fetal echo they found a pericardial and pleural effusion around one side of Nico's heart/lung. The doctors were reassuring as the fluid collection was small and not affecting the growth of his organs. We had weekly ultrasounds to monitor the fluid and everything seemed to be going well. 

Cupid himself dropped off our little love on February 14th 2021, he must have known he would steal many hearts. Nico was born at 38 weeks 1 day weighing 5lbs 15oz and his head was not measuring on the growth curve. He was postnatally diagnosed with IUGR. Nico was sweet and calm from the beginning and he continues to be that way today. 

We were in the middle of getting adjusted to life with 2 kids (we have a 2.5-year-old daughter named Emmie) when Nico's pediatrician expressed some concerns about the size of his head. She referred us to Neurology where he was diagnosed with Microcephaly and underwent an MRI. The results of the MRI shocked us, Nico had suffered a brain bleed that they believe happened during delivery. He had been showing a preference for his right side but we hadn't thought much about it until those results. He immediately underwent a full hematology work up which came back normal. We began Early Intervention and Physical therapy and met with Genetics to discuss further testing. The Geneticist recommended WES or whole exome sequencing; we thankfully were able to get the testing done right away. The results would take 2 months to get back. 

During that two month wait we received more shocking news, Nico was diagnosed with bilateral congenital cataracts and is extremely far-sighted. He was given a prescription for glasses and man does he look cute! When his genetic testing came back positive for the COL4A1 gene mutation we were a mess. 

I think part of us was preparing for this possibility but when it became fact it took our breath away. Now that we have digested the information and immersed ourselves in our new normal, we are ready to take action. 

Our son is amazingly happy, his smile lights up the room and we will do anything and everything we can to make sure he has way more smile days than sad ones. Yes, we are facing multiple surgeries and yes, we don't know exactly what his future will look like but whatever it is we are going to make the most of it. We would love and appreciate more then we could ever express if you would help us complete our goal of doing everything we can for our little man!

Some important information and details:

Gene Therapy for COL4A1-related disorders: The next generation of medicine  

Gene therapies represent tremendous potential for patients living with sever and hard to treat genetic diseases. Our ambition is to lead research into a new gene therapy approach for COL4A1. However, funding for research into rare diseases is still a challenge. In collaboration with families impacted by this condition, we are raising funds to support this pioneering project. Can you help us? 

What is COL4A1?

One of the biggest challenges for this disorder, and for rare diseases generally, is that there are no standardized treatment protocols or guidelines for affected individuals. Funding is also a major challenge; because rare diseases affect a small number of people, they are often considered lower priorities when it comes to allocating research funding. 

Gene therapy the future for treating rare diseases 

Although individually uncommon, collectively rare diseases affect a huge number of people - roughly 350-400 million people worldwide, or between 5-10% of the world’s population. Most rare diseases affect children and many are fatal or severely disabling. This great unmet need makes it imperative that we find new treatments to help the many patients and families who are in search of better treatments.

However, there is great hope. Medicine is evolving and innovations in gene therapies show outstanding clinical potential for treating rare genetic conditions such as COL4A1-realted diseases. Gene therapy is the introduction of a new gene to a patient’s cell to replace, silence or manipulate the faulty one. The goal of gene therapy is to restore normal function in affected tissues or cells, potentially enabling a patient to live without the need for ongoing treatments. To achieve this, a custom-made virus vector is used to deliver the genetic material into patient’s cells.

Our ambition is to embark on a new project to silence the abnormal COL4A1 gene using a technique called shRNA delivered to the cells using a virus or other means. We believe that silencing the abnormal COL4A1 gene could lead to the manufacture of normal collagen in cells and will improve symptoms of the condition.

Why Sheffield?

The UK has a world-class genetics research base and the University of Sheffield is a leading player. We are the first site in the UK delivering both stem cell transplantation for multiple sclerosis and genetic therapies for Amyotrophic Lateral Sclerosis (ALS) clinical trials. We are renowned for our translational neuroscience research through the Sheffield Institute for Translational Neuroscience (SITraN) and the Neuroscience Research Institute. Sheffield is home to the only National Institute for Health Research (NIHR) funded Biomedical Research Centre in the UK a collaboration between the University and the Sheffield Teaching Hospitals NHS Foundation Trust, which is one of the UKs largest and most successful hospitals within the UK National Health Service (NHS). 

A new Gene Therapy Innovation and Manufacturing Centre (GTIMC) is currently being built in Sheffield and is part of a pioneering network of Gene Therapy Innovation Hubs in the UK dedicated to the clinical development of genetic medicines. The GTIMC will manufacture the viral vectors required for gene therapeutics and provide the critical expertise to swiftly move potential new treatments through early phase clinical trials to commercialization, helping the most innovative research to reach patients.

At Sheffield, we have all the necessary expertise and the facilities to carry out this research in preclinical models of the disease. Once that part of the project is complete and if successful, we will be in a unique position to start clinical testing, thanks to the GTIMC, which can manufacture the gene therapy treatment in Sheffield. 

How can you help?

All funding received will support an outstanding Post-Doctoral Researcher for three years to lead on this research.

We invite you to be a part of this vision, which could influence the future treatment of COL4A1-related disorders and the health outcomes for people affected by them.

Should you want to donate more than $500 we encourage you to donate directly through https://www.sheffield.ac.uk/giving/usa

We are beyond grateful and thank you for your support!!