Our daughter Chloe is 5 years old and was born in New Haven, CT in July 2018. As a baby, she met all her developmental milestones and was a healthy child. She would laugh, play, speed down a slide, and always dance with her sister. She had started to learn how to go on a balance bike and would also enjoy going to daycare and pre-school, playing with her friends, and have fun coloring, painting, and learning her ABC’s. She would also say ‘I love you’ …  She can't do any of these things now... 

 

Just a little over two years ago, Chloe was diagnosed with Tay Sachs, a rare neurodegenerative terminal illness. The journey to getting this shocking diagnosis was not easy—it took about 18 months since we first reported symptoms to medical providers to determine what was going on.

 

Our daughter – sweet, loving, funny, and lover of music is one of only a few children diagnosed with this illness annually across the country that affects the brain and nervous system and will eventually take away her ability to talk, walk, eat, see--- to live.  We have mourned for who Chloe would have been in the future, but we continue to mourn our Chloe now, who she was just a few months ago, weeks ago, and even days ago, as we see her skills and abilities deteriorate.

 

As parents of a rare child, we advocate for support to prioritize understanding and action around rare illnesses – to make sure that families are supported in this difficult journey by: 1) education for providers on early signs and symptoms of these life-limiting conditions,
2) improving access to specialty care,
3) designing integrated care that supports families as they navigate and secure medical care while they grieve and take care of their ill child,
4) ensuring medical care that will guarantee quality of life to best fit the needs of the child irrespective of ability to pay;
5) Prioritizing research and funding for cures and treatments -- there are no effective treatments for Tay Sachs, there is no cure.