Cecily's life is non-typical so it came as no surprise to us that we kicked off her 3-day celebration on March 7th at the Future of Genomic Medicine conference in La Jolla.
You can see video of Brien and me getting interviewed by conference organizer Eric Topol, the prominent Scripps Health cardiologist-geneticist, accompanied by Lynne Bird, Cecily's geneticist and doctor who helped us complete a complete sequencing of Cecily's genome.
In true Cecily fashion - she arrived dressed immaculately with a blazer, fitted pants and of course, her bow of choice. Lucky for us she has good style at age 5 because she will not wear anything she does not choose. I will never complain about this because we are just so excited to hear her opinions and to see her demonstrate her sass. We made the tough decision to have Cecily present at the conference to help humanize her story and the importance of genomic sequencing to parents like us. The gift Scripps Translation Research Institute provided us by sequencing Cecily as part of their IDIOM study is immense. We are always careful about sharing Cecily's story but the science is so important. The more people who choose to do this for their children - the more the data repository will grow and the more likely it will be to see trends, identify patterns and perhaps future treatment/help/or even just a roadmap for a parent with a rare, unknown disease. (more on this in future blogs).
I share this story only to reflect that Cecily had about 500 people wish her happy birthday! Was she in her element? Yes. Does she love attention? Yes. The conference coordinator heard it was her birthday and they provided her with a special pink, glittery, bow that announced to all that yes, indeed it was her birthday! They also provided 2 presents for her that could not have been more perfect! They gave her a set of dress-up clothes. One Doctor outfit with all the necessary medical equipment to provide check-ups on Cason, Flash and all of her dolls... and a glittery, sparkly, Mermaid dress. OMG she was in heaven. She kept saying - Open, Open, Open!
Her birthday fun continued with a mellow family party and a few presents. She needs for nothing but she is 5 and she was all to eager to tear into the presents. In fact, it is the first time we've ever really seen her excited to be getting presents and she would periodically go over to the pile and grab one to open.
On Saturday we had a small party for her at the house with just family and family friends. We chose not to invite her class-mates as we had a large number of children and it was really wonderful to see everyone noticing Cecily's progress. She had two of the most glorious days of her life. The words are flowing from her precious lips. She asked for a blue lolipop - not the pink one. (A major step forward on more ways than one...) She is using her words to get her needs met and she is so very proud. If you ask Cecily to repeat you she will - saying each word more and more clearly. We can see the light at the end of the talking tunnel. It will take years but she is well on her way. Today she asked for her ballet books, for Tallulah, for Franklin, for her Elmo tunnel train and more! The articulation is so crisp when she is internally motivated.
Her eating is slowing and surely progressing, too. We have taken our foot off the gas and ironically she has stepped up herself. She is asking for her apple juice, her banana and her cookies. She is more willing to eat at school and to drink her milk. She is screaming less (still some screams - but less!) She is expressing herself so we are trying to honor her words and show her they do have power - even if we don't always love what she is saying. (ex. No, I won't!... I don't want to... No Mommy!)
As we celebrate Cecily turning 5 we are filled once again with a tremendous hope. Cecily is such a fighter. I have never seen a child have so much intensity. She tries so very hard. You can see her brain processing. And for the people who appreciate that - and pay attention - she shares herself completely. She is full of love and life. She is showing us everything she has to offer and we couldn't be more proud of her.
We are so grateful that we got Flash for the kids. Cecily adores him in ways only a video could truly capture. (Cason loves him even more - if that is possible!) Flash has brought a new dynamic and a new dimension to the house. We feel like we've hit our stride and we're just excited to see what's around the corner.
Thank you to all of our family and friends, Doctors and therapists, nurses and social workers, teachers and aides, and instructors of all kinds for believing in Cecily. The miracle of Cecily continues. Look out world!
Onwards and upwards!
You can see video of Brien and me getting interviewed by conference organizer Eric Topol, the prominent Scripps Health cardiologist-geneticist, accompanied by Lynne Bird, Cecily's geneticist and doctor who helped us complete a complete sequencing of Cecily's genome.
In true Cecily fashion - she arrived dressed immaculately with a blazer, fitted pants and of course, her bow of choice. Lucky for us she has good style at age 5 because she will not wear anything she does not choose. I will never complain about this because we are just so excited to hear her opinions and to see her demonstrate her sass. We made the tough decision to have Cecily present at the conference to help humanize her story and the importance of genomic sequencing to parents like us. The gift Scripps Translation Research Institute provided us by sequencing Cecily as part of their IDIOM study is immense. We are always careful about sharing Cecily's story but the science is so important. The more people who choose to do this for their children - the more the data repository will grow and the more likely it will be to see trends, identify patterns and perhaps future treatment/help/or even just a roadmap for a parent with a rare, unknown disease. (more on this in future blogs).
I share this story only to reflect that Cecily had about 500 people wish her happy birthday! Was she in her element? Yes. Does she love attention? Yes. The conference coordinator heard it was her birthday and they provided her with a special pink, glittery, bow that announced to all that yes, indeed it was her birthday! They also provided 2 presents for her that could not have been more perfect! They gave her a set of dress-up clothes. One Doctor outfit with all the necessary medical equipment to provide check-ups on Cason, Flash and all of her dolls... and a glittery, sparkly, Mermaid dress. OMG she was in heaven. She kept saying - Open, Open, Open!
Her birthday fun continued with a mellow family party and a few presents. She needs for nothing but she is 5 and she was all to eager to tear into the presents. In fact, it is the first time we've ever really seen her excited to be getting presents and she would periodically go over to the pile and grab one to open.
On Saturday we had a small party for her at the house with just family and family friends. We chose not to invite her class-mates as we had a large number of children and it was really wonderful to see everyone noticing Cecily's progress. She had two of the most glorious days of her life. The words are flowing from her precious lips. She asked for a blue lolipop - not the pink one. (A major step forward on more ways than one...) She is using her words to get her needs met and she is so very proud. If you ask Cecily to repeat you she will - saying each word more and more clearly. We can see the light at the end of the talking tunnel. It will take years but she is well on her way. Today she asked for her ballet books, for Tallulah, for Franklin, for her Elmo tunnel train and more! The articulation is so crisp when she is internally motivated.
Her eating is slowing and surely progressing, too. We have taken our foot off the gas and ironically she has stepped up herself. She is asking for her apple juice, her banana and her cookies. She is more willing to eat at school and to drink her milk. She is screaming less (still some screams - but less!) She is expressing herself so we are trying to honor her words and show her they do have power - even if we don't always love what she is saying. (ex. No, I won't!... I don't want to... No Mommy!)
As we celebrate Cecily turning 5 we are filled once again with a tremendous hope. Cecily is such a fighter. I have never seen a child have so much intensity. She tries so very hard. You can see her brain processing. And for the people who appreciate that - and pay attention - she shares herself completely. She is full of love and life. She is showing us everything she has to offer and we couldn't be more proud of her.
We are so grateful that we got Flash for the kids. Cecily adores him in ways only a video could truly capture. (Cason loves him even more - if that is possible!) Flash has brought a new dynamic and a new dimension to the house. We feel like we've hit our stride and we're just excited to see what's around the corner.
Thank you to all of our family and friends, Doctors and therapists, nurses and social workers, teachers and aides, and instructors of all kinds for believing in Cecily. The miracle of Cecily continues. Look out world!
Onwards and upwards!
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