Meet Josephine. She is 7 years old and has been diagnosed with CDKL5 and Congenital Myotonic Muscular Dystrophy.
Josephine's mom says, that she has 2 separate rare conditions. At 3 weeks old, she received the Congenital Myotonic Muscular Dystrophy diagnosis via genetic testing. She was born not breathing and immediately intubated. She was very floppy and could not properly feed. She also had clubfoot. She was in the NICU for over four months.
We were told babies with this condition would be delayed and have physical and cognitive issues. There was hope that she might eventually walk and talk, perhaps even read and write.
Time went by and I joined an online group for parents of children born with this condition. I watched with joy as their children achieved milestones even though they were delayed. While we waited for Josephine to do the same, we engaged in therapies through her hospital and practiced the activities we were taught at home.
Those milestones never came. I became concerned when she was two. I was seeing other kids with her condition hold their heads up and play with toys in their hands. She also had seizures. The other children did not.
I talked over my concerns with anyone and everyone on her extensive medical team at the hospital. Finally, they agreed to run a series of tests focused on the seizures.
We were all shocked when it was discovered that she had another unrelated rare condition. It is CDKL5. She is the only person in the world diagnosed with both. CDKL5 is marked by uncontrolled seizures, nonfunctional hand usage, low tone, feeding difficulties, and also cognitive & physical impairment. While many of the symptoms overlap with her first diagnosis, some do not. This explained everything I had noticed.
She has a feeding tube because she doesn't eat by mouth, AFO braces, a daily breathing regimen with 3 different machines, sleeps with an oxygen monitor and bi-pap, and gets around via wheelchair. She doesn't walk or even hold her head up. She has her own voice via a communication device.
Josephine has a limited life expectancy, but she does not have a limited life. We don't decide she can't do things. We only ask ourselves how she can do everything her peers do. Despite being nonverbal and nonmobile, Josephine has done so many things. She travels and has been to the Mayan Ruins, Washington DC, Niagara Falls, Salt Lake City, and more.
She participates in sports and other physical activities like swimming, rock climbing, soccer, baseball, hiking, and even water skiing.
She is in first grade. She enjoys school and being around her peers.
Her greatest strength is showing by example that you can achieve so much despite overwhelming obstacles.
Josephine loves music of all kinds. She enjoys creating art. Sometimes we work together to make things, and sometimes she uses a tool that helps her hold markers so she can draw all by herself. She also loves listening to stories.
We decided to use her artwork to bring awareness to her 2 conditions. The symbol for CDKL5 is a starfish. https://www.cdkl5.com/our-starfish-story/ Josephine and I made a footprint starfish using her feet.
The symbol for Congenital Myotonic Muscular Dystrophy is a lion. https://www.myotonic.org/miles-the-myotonic-lion Josephine and I made a lion using her handprint.
By coincidence, the same color represents both conditions. It is green, so we made a green awareness ribbon using her footprints.
We, at 7 Pines, LOVe the artwork you all created. The symbolization behind it all is absolutely beautiful!
