Lakyn Jo is from the small town of Liberty Mounds, Oklahoma, USA. Lakyn was born in February 2014. She is the daughter of Billie and Cody. Lakyn was born a healthy baby. There were not any issues with the delivery. Lakyn was considered a “normal” baby until she was 3 months old when her parents noticed her doing strange twitching motions. Eventually those twitches turned into full blown seizures. She was then diagnosed with epilepsy and was put on medication.
When she continued to grow she started to show signs of being to “floppy”. Parents noticed her muscle tone was abnormally low. By 6 months she was diagnosed with hypotonia. She then started physical, speech and, occupational therapy to help treat her condition. Lakyn has little speech. Mostly “mama” “baba” “dada” “hi” and “hot dog” (for Mickey mouse). Lakyn has good eyes but she does have astigmatisms in both of them causing her to not focus very well. She wears glasses to help with that.
Lakyn has seen several doctors and specialist. They all ran several different test on her to figure out what exactly was going on. In October of 2015 her neurologist wanted Lakyn to do a full Exome sequence genetic test. In December 2015 parents got the results back and she was then finally diagnosed with Gene Mutation DNM1 disease EIEE31. Parents also found out that this mutation was not genetically passed down from either of them. This genetic disorder was considered De Novo.
As of October 2016 Lakyn can still not sit up on her own, she can not crawl or walk. Lakyn is gaining strength and continues to grow stronger. She has gained head control and she can use her hands and arms to play with toys or hold her sippy cup. Her seizures are still controlled by low doses of phenobarbital and keppra. She still continues to work hard doing several hours a week of therapy to gain strength.
Lakyn is a very happy toddler. She loves Mickey Mouse, music, chicken alfredo, the outdoors and watching her big sister cheer while her mom coaches the cheer squad. Her mom and dad are super proud of her and they love their special baby girl just the way she is. Lakyn and her parents hope their story can help others and also inspire others. “Disabilities are not Limitations”.
Written by Billie Jo Thomas (October 2016)
7 thoughts on “Lakyn’s Story”
Our daughter Sunni has the DNM1 disorder. Would like to connect with others here, but not sure how.
Hi Jason, I’ve messaged you on facebook directly, but the name of the group is DNM1 Dynamoes – connecting DNM1 families, there is also another group ‘mutations of gene DNM1’ and some genetic epilepsy groups as well. Please send a request directly on facebook and we can add you 🙂
Hola soy de Perú mi bebé tiene DNM1
Hola soy de Perú mi bb también tiene DNM1
Hello, I want to tell you my son Selim’s story. Selim is from Kayseri,Turkey. He was born in March 2014. Selim was a normal baby until he was 42 days old. He suddenly moved all his extremities and after hıccup. Rushed to hospital and lists of tests and diagnosed epilepy. MR and an EEG he was diagnosed with Infantile Spasms, hypotonia. He started physicall therapy, 3months old.
Selim has seen several doctors and specialist. Finally hıs neurologist wanted to do a full Exome sequence genetic test. 2015 he was diagnosed with Gene Mutation DNM1. This genetic disorder was considered De Novo.
DNM1 Mutation Nucleotide Change : c.1076G>C (p.R237W)
Since our first hospital visit we have trialled a succession of anti-epileptic meds including Sabril, Keppra, Luminaletten, Synacten. None of which have been successful in the prevention of his seizures.
And then we have trialled the ketogenic diet did stop seizures but only 2months.
Fırt MR was normal (he was 50 days old).
Second MR result was Selebral cortıcal atrofi ( he was 3,5 years old)
As of February 2018 Selim can still not sit up,crawl or walk. he can’t use his hands and arms to play with toys or any thıngs. Very ınterstıng he only thouch hair. he doesn’t speak. he has CVI. His seizures are still controlled by low doses of keppra and steroıds (for 3 months )
He does have astigmatisms. He wears glasses to help with that.
Selim is a lovely boy. He is my life source.
I was excited to find you all.
Written by Feride Tiritoğlu Uçar
Hola mi bebé de llama angelito tiene DNM1, tiene encefalopatia epileptico es hipotonico global, no vee o al menos eso pensamos no sigue la mirada , no se ala menta x su boca tiene gastrostomia, soy de Perú , algún papá que quiera cambiar informacion
Hello Victoria, there is a Facebook group called DNM1 Dynamos – connecting DNM1 families. Please send a request directly on facebook and we can add you. Thanks.