Last fall, Judah was referred to the genetics team at Emory Genetics. We began the process of genetic testing, and in March, we met with the team to discuss Judah’s results. What they told us has completely rocked our world. Judah has been diagnosed with an extremely rare mitochondrial disease: Mitochondrial Complex IV Deficiency, Nuclear Type 5 (MC4DN5). There have only been about a hundred cases of this disease recorded in history, and Judah’s exact gene sequence hasn’t ever been seen before in people who have undergone genetic testing.
This disease is a severe, inherited metabolic disorder that affects how Judah’s body creates energy. Because his cells can’t produce energy properly, it puts a strain on his organs and muscles, putting them at risk for decline or failure. In most cases, this condition comes with very difficult outcomes. The average life expectancy is 1.5 years, and the large majority will not see their fifth birthday. Babies with this condition often develop very slowly, have weak muscles and poor coordination, and have metabolic crashes that are very dangerous and can result in coma or death. While there are clinical trials being conducted for mitochondrial disease, there is no cure for Judah’s disease.
The team at Emory shared that they don’t currently have the resources to do further testing or answer many of the questions about Judah’s prognosis or possible treatments. They have referred us to the Children’s Hospital of Philadelphia for further testing and a plan of care. Judah’s initial appointment is scheduled for early May, and we aren’t sure what exactly to expect. We are hoping to gather more information about the testing they’ll do and what therapies or treatments may help prolong Judah’s life.
Funds raised will help cover travel expenses to Philadelphia for Judah’s appointments and medical costs related to his care, therapies, and treatments. We aren’t sure how many trips we will need to make or what expenses will come up, so we will continue to update as we know more. The support and prayers we’ve received from so many people have been profoundly encouraging. We are deeply grateful for every person who stands with Judah and our family. Your help means the world to us as we navigate this uncertain journey.
This disease is a severe, inherited metabolic disorder that affects how Judah’s body creates energy. Because his cells can’t produce energy properly, it puts a strain on his organs and muscles, putting them at risk for decline or failure. In most cases, this condition comes with very difficult outcomes. The average life expectancy is 1.5 years, and the large majority will not see their fifth birthday. Babies with this condition often develop very slowly, have weak muscles and poor coordination, and have metabolic crashes that are very dangerous and can result in coma or death. While there are clinical trials being conducted for mitochondrial disease, there is no cure for Judah’s disease.
The team at Emory shared that they don’t currently have the resources to do further testing or answer many of the questions about Judah’s prognosis or possible treatments. They have referred us to the Children’s Hospital of Philadelphia for further testing and a plan of care. Judah’s initial appointment is scheduled for early May, and we aren’t sure what exactly to expect. We are hoping to gather more information about the testing they’ll do and what therapies or treatments may help prolong Judah’s life.
Funds raised will help cover travel expenses to Philadelphia for Judah’s appointments and medical costs related to his care, therapies, and treatments. We aren’t sure how many trips we will need to make or what expenses will come up, so we will continue to update as we know more. The support and prayers we’ve received from so many people have been profoundly encouraging. We are deeply grateful for every person who stands with Judah and our family. Your help means the world to us as we navigate this uncertain journey.