Matei's Story

By Cristina, Mitochondrial DNA Depletion Syndrome Type 7 (or IOSCA), Romania, June 12, 2020

Matei

Matei's Story 

Matei was born on August 5th 2018, being an extremely healthy child.

He has had an exciting development period. From the newborn to an active toddler he reached all the milestones that a child is doing. He was laughing so much, and, he was enjoying so much making others laughing. Before choosing his name, we called him “Happy”. Matei is our Happy and our happiness; he brings so much happiness around.

At about age 11 months, from one day to another, we noticed there is something wrong with him while crawling. One Friday afternoon, I was with him in the park and when he started to crawl, I saw he can not do it as good as he did it before. He was still crawling, still independent and having the desire to explore, but something was wrong with him. In the next 2 months, his regress was continuing.  He could not walk or crawl, and finally, he could not sit alone any more. Besides, he started to have some strange movement of the mouth and the eyes. He started to lose focus, to be more nervous and loosing precision in gripping objects.

After 4 months of investigations, we found out that the problem that generates Matei’s regress is a mutation on the TWNK gene. That generates a disease called Mitochondrial DNA Depletion Syndrome 7.

Mitochondria’s are tiny structures found in almost every cell in our body. They convert the food we eat into the energy we need to survive and grow. Mitochondria are the power plants of our body.

There are over 200 types of mitochondrial diseases. Lack of energy is a common outward symptom for all mitochondrial disease; but mitochondrial disorders may literally cause any symptom, in any organ, with any degree of severity, at any age.

Today, there are no cures for mitochondrial diseases, but only treatment to reduce symptoms or slow the decline in health.

Our disease - Mitochondrial DNA Depletion Syndrome 7 (previously called Infantile-Onset Spinocerebellar Ataxia – IOSCA) is one of the most severe and extremely rare mitochondrial disease. Today, Matei is 1 year and 10 months and he cannot move or sit alone.  He cannot talk, but when he wants something, he is so expressive! He understands everything that happens around him. He loves playing or interacting with people, he loves sharing his food or his toys!

Matei takes several vitamins and supplements to reduce symptoms and slow down the decline. We also see therapists on an almost daily basis. He did enormous progresses, he basically learned everything from zero; this gives us so much hope that Matei will be a healthy child one day.

We are looking to connect with communities that can help us: families having similar cases, foundations focused on mitochondrial diseases, researchers and doctors that could initiate a clinical trial. We trust God can do miracles, and one day, Matei can live a normal life.

Meanwhile, we enjoy every minute we are together, every smile and every progress of Matei. For us, every moment with him is priceless!

We love, enormously, our child and we would do everything possible to improve his life.

https://youtu.be/CKdmAL9f5Vg

Contacts: [email protected]
 

 

Matei's Story
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