Infantile Neuroaxonal Dystrophy
By Ali Shah, MBS 2023, Geisinger Commonwealth School of Medicine
Mentor: Dr. Maya Lichtenstein, M.D.
There
is nothing more special than witnessing the arrival of a new baby into the
world. My niece, Zaynah, was born healthy in 2015. From months 1 through 11,
she was crawling, smiling, and playing, as a normal infant should. Once she
turned one, we all noticed that she was experiencing strange symptoms. Her
first symptom was her unstable eye movements. This later developed into her not
being able to balance her head. We were all very concerned because doctors were
unable to diagnose her with a condition at the age of one. Once she turned two,
we all noticed that she wasn’t developing correctly. After numerous tests, we
were told by doctors that she has a rare incurable condition called Infantile
Neuroaxonal Dystrophy (INAD) and that children with this condition do not live
past the age of 10. INAD is an autosomal recessive disease caused by a mutation
of the PLA2G6 gene. As the years passed, Zaynah started to deteriorate. She
went from being a very healthy infant to becoming a very sick child in a quick
time span. Doctors tried their best to make her life as comfortable as
possible. They inserted a feeding tube and provided her with anti-seizure
drugs, muscle relaxer drugs, and physical therapy. Zaynah died at the age of 6
from multi-organ failure.
To
provide Zaynah with the most comfortable life, her parents decided to put her
into rare clinical trials. We were very disappointed that there weren't many
clinical studies on this rare neurological condition. For a child to have INAD,
both parents must be carriers for the mutated PLA2G6 gene. This means that
there is a 25% chance that their child will have INAD. Many families are
unaware of INAD because the carriers of the mutation do not have symptoms, and INAD
is not included in regular genetic testing panels.
There are many conditions that can be confused for INAD, such as Neonatal Encephalopathy, Tay-Sachs disease, and many more. Without getting the right scans and, particularly, genetic testing for INAD, it is very difficult to diagnose and can be misdiagnosed. One of the main difficulties associated with this disease is that families often don’t know if their children are affected until their health begins to significantly deteriorate, since most children with this disease are born without symptoms. This leads to confusion, and it could take up to a year or more to be diagnosed with INAD due to its rarity which may lead to a significant amount of testing.
It was very unfortunate that Zaynah had to go through this deadly condition. It taught us a valuable lesson that genetic testing is crucial for identifying these types of rare conditions. I really do think that educating the general population about INAD is an important step in increasing screening. I believe that if INAD is included in regular genetic testing panels, we may be able to identify if both parents are carriers for INAD, which can help parents decide if they want to still have more children, or if they should have embryos tested. In the end, Zaynah’s legacy will continue forever as my family, and I have started some fundraising programs and are currently working with the INAD Cure Foundation to make people more aware of this deadly condition. More research institutes are getting involved in INAD research. I am excited to see what the future holds for INAD. Will we ever be able to use gene therapy to alter the mutated PLA2G6 gene in INAD patients?
References
1. Altuame FD, Foskett G, Atwal PS, Endemann S, Midei M, Milner P, et al. The natural history of infantile neuroaxonal dystrophy. Orphanet J Rare Dis. 2020;15(1):109.
2. Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C. Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: an update for the diagnosis. Brain and Development. 2017;39(2):93-100.
There are many conditions that can be confused for INAD, such as Neonatal Encephalopathy, Tay-Sachs disease, and many more. Without getting the right scans and, particularly, genetic testing for INAD, it is very difficult to diagnose and can be misdiagnosed. One of the main difficulties associated with this disease is that families often don’t know if their children are affected until their health begins to significantly deteriorate, since most children with this disease are born without symptoms. This leads to confusion, and it could take up to a year or more to be diagnosed with INAD due to its rarity which may lead to a significant amount of testing.
It was very unfortunate that Zaynah had to go through this deadly condition. It taught us a valuable lesson that genetic testing is crucial for identifying these types of rare conditions. I really do think that educating the general population about INAD is an important step in increasing screening. I believe that if INAD is included in regular genetic testing panels, we may be able to identify if both parents are carriers for INAD, which can help parents decide if they want to still have more children, or if they should have embryos tested. In the end, Zaynah’s legacy will continue forever as my family, and I have started some fundraising programs and are currently working with the INAD Cure Foundation to make people more aware of this deadly condition. More research institutes are getting involved in INAD research. I am excited to see what the future holds for INAD. Will we ever be able to use gene therapy to alter the mutated PLA2G6 gene in INAD patients?
References
1. Altuame FD, Foskett G, Atwal PS, Endemann S, Midei M, Milner P, et al. The natural history of infantile neuroaxonal dystrophy. Orphanet J Rare Dis. 2020;15(1):109.
2. Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C. Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: an update for the diagnosis. Brain and Development. 2017;39(2):93-100.
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