Parenthood gives you a new perspective on life. You appreciate the newness - those sweet smiles, seeing nothing but love in your son’s eyes, and seeing the world in a new light. Our journey to parenthood was not easy, but we are thankful for each moment we have with our baby boy. Some would even call him a “miracle baby” or as his mama calls him a “sweet angel boy”.

After a struggling with infertility, we opted to pursue the option of fertility treatments in hopes of growing our family. We underwent genetic testing before becoming pregnant unexpectedly prior to the start of our IVF treatment. The genetic testing results we received after becoming pregnant indicated that we both are recessive carriers of a TPP1 gene mutation resulting in Neuronal ceroid lipofuscinosis type 2 (CLN2 disease). This means our baby would have a 1 in 4 chance of receiving both recessive genes and being diagnosed with neuronal ceroid lipofuscinosis type 2 (CLN2 disease) or Batten Disease. After praying over our options, we made the decision to undergo a procedure at 11 weeks gestation to complete genetic testing on our baby. After 5 long weeks, our baby boy was diagnosed Late Infantile Batten Disease at 16 weeks gestation. 

What is Batten Disease? Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare diseases caused by autosomal recessive genetic mutations resulting in the body.  These genetic mutations disrupt the cells’ ability to dispose of wastes. Cells are thrown out of balance with the build-up of proteins and lipids (fats). There are 13 known forms of Batten disease and you will often hear them referred to as CLN1-CLN14. It is estimated that 2-4 births per 100,000 in the U.S. are affected by Batten disease. 

Our son has CLN2 or Late Infantile Batten Disease. This disease is marked by seizures, and the loss of motor skills and cognitive ability. The life expectancy of a child with this disease is 8 to 12 years old. Fortunately for us, there is a treatment for CLN2 that does not exist for the other variations of the disease that could slow the onset of symptoms for our son. However, this is not a cure.

The ultimate option for treatment for a child like Sam would be gene replacement therapy. Up until November 2023, there was hope for this treatment to become available from REGENXBIO. In November, REGENXBIO announced a corporate restructuring and a halt the development of multiple potential AAV gene therapies, including the RGX-181 and RGX-381 programs for the treatment of central nervous system (CNS) and ocular manifestations of CLN2 Batten disease, due to the challenging economical market. 

We share this information with our community not for sympathy, but for awareness and to find hope in those around us. Our family is coping with the anticipatory grief in the best way we know how — by finding joy in each day. Our son is here and we have him to love; that is what matters. Our journey will not be easy, and we do ask for your support. If you are religious, please lift our family in prayer and pray for the needed treatments to come. If you are not religious, simply send positive vibes our way. If you wish to support monetarily, please donate to the Batten Disease Support and Research Association (BDSRA) Foundation who’s mission is to support families like ours and the needed research for treatments and cures. Thank you for your thoughts, prayers, and support on our journey.