We are overwhelmed with the amount of love and support you all have shown us! I wish I could THANK each and everyone of you in person! Thank you for making this journey a little less stressful for us !
Rians Journey with CDKL5:
In early December of 2018, Rian was hospitalized for seizures. From there on out it has been an uphill battle of multiple EEG'S with no answers, blood tests, denials from insurance, changes in 4 different medications to control her seizures, along with numerous doctors visits to Boston Children's Hospital every month.
Rian finally went through genetic testing and her results came back with the answer of 'uncertain variances'. With this result it gave us the names of a couple of horrific disorders that Rian could possibly have, and that no parent would ever want a child to have. We were then referred up to the Boston Children's Hospital so that Rian could get better care.
At the end of March my husband and I had to go through our own genetic testing to see if Rian had something called CDKL5. We did not get the results back until middle of April. Our results came back negative which meant that Rian was diagnosed with this disorder. As we received this heart wrenching news that our daughter had this monster of a disorder, we new that Rian was going to a good place where she would get the best care possible.
CDKL5 is a rare X-linked genetic disorder that results in severe neurodevelopmental impairment and early onset, difficult to control seizures. CDKL5 stands for cyclin-dependent kinase-like 5, and is a gene located on the X chromosome. It is a protein that our brains make for us to function, and Rian's brain does not have that ability to make that protein. Most of the children affected by the CDKL5 disorder suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined to a wheelchair. Some may have scoliosis, visual impairment, gastrointestinal difficulties, respiratory, sleep problems and severe developmental delay.
Rians care is now full time at Boston Children's Hospital. She is part of the CDKL5 Clinic, Aerodigestive Clinic for her GI and feeding tube, Sees a Neuro-Opthamologist for her Cortical Visual Impairment, and is now following up with the Cardiology Clinic because of issues with her heart that we found out during her complications with her G-tube surgery.
Rian had surgery the week of Thanksgiving for her double esotropia in her eyes where she spent 3 days in the hospital.
Rian has special education therapy and physical therapy twice a week, as well as vision and speech therapy. She is on multiple medications 3x a day for her condition.
We have a long and stressful journey ahead of us with the majority of our time making trips up to Boston for Rian's care.
We would be grateful for any support during this journey ahead of us. If you would like to donate directly to the International Foundation for CDKL5 Research you can go to www.CDKL5.COM/Donate/
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