Apr. 19, 2022
Posted by Julie Ostroff
While in uterus, Zane had an abnormally large bladder that did not drain properly; however, no diagnosis was given at that time. The doctors monitored Zane closely starting around 20 weeks. He was suspected of having megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) in December of 2012 at six days old. Genetic testing began in January 2013, and official results showed a genetic defect with the ACTG2 gene.
It was terrifying as a mother to have my child diagnosed with a rare disorder such as MMIHS. It is frightening having doctors tell you that the average child with this diagnosis is likely to live only a couple of years and could require artificial nutrition or intestinal transplants to survive. The research published at the time was not very promising.
Throughout the years, we have had to fight for Zane continuously. We fight for medical care for him to get relief. We fought for tests to be able to develop a long-term plan for him. We fought insurance when they denied covering the cost of artificial nutrition, which he needed to survive. We continue to fight for him in the community and in day-to-day life. In the beginning, we often felt alone and not fully understood by doctors, family, and friends. It has been difficult for people to understand how fragile and medically complex he is. We did not know any other families that had medically fragile children and there was not a support group specific to MMIHS.
At this point in the journey, more people understand him. Our doctors are wonderful and listen to us as Zane’s parents and advocates. We find support in the MMIHS community through connecting with other families.
The first MMIHS support group began in 2014. The MMIHS Foundation began in 2017. The foundation is a wonderful support to those affected by MMIHS. Advocacy and research, as well as science/medical interventions, are key components to advancing quality of life for those living with this diagnosis.
Zane’s story is shared with the hopes of helping others in some way. Advocating for Zane and those with MMIHS will help others better understand the challenges and needs that are prevalent in the life of those with this diagnosis. We hope sharing Zane’s story builds support and inclusion to anyone who encounters him, or others like him. As a mom of a rare child, I understand the worries and the barriers, and I hope to be able to support any other moms on a rare journey.
Zane’s mother Lisa is a Running for Rare participant. Running for Rare fundraises for the Undiagnosed Diseases Network.