Inspiration In Isabel
Donation protected
Isabel lives daily with the threat of seizures, never knowing when one or many will happen. Her vision is limited often just seeing light/dark or movements, she loves to play on the floor where she can roll around as her mode of mobility, she likes to be held straight up so she can try to hold her head up. She only eats via a stomach feeding tube, she has not mastered the swallowing since she was 12 months old. She is a very happy girl and loves to have friends talk to her, or spend time with her grandparents, aunts/uncles, cousins and friends of the families. Isabel's family has been most sustained during this journey of Isabel's Inspiration by their faith in God and the hope for a cure some day. God has blessed our family by the joy of Isabel every day, as well with many friends, acts of kindness, a benefit when Isabel was 16 months old,
About 2 weeks ago I began writing the story below to begin a campaign so that Isabel could attend 2 very important events that I describe later in this story. Last week during yet another hospitalization for her there were many family member and friends both local and distant that called, texted and emailed to say that if there was anything they could do just ask. Well as her grandmother I am committed to seeing that we try to make this happen and asking that you read this story and share with others that might be interested. Know that $5 or $10 will be such a gift to Isabel and CDKL5 . Isabel's family is a single income family and have many other care related obligations in her care that makes it difficult to do this. These events are not something that insurance will assist with but the events are very beneficial to the family for improving her quality of life in knowing and finding out the newest findings for CDKL5 from worldwide specialists .
The 2 events are opportunities that would and could improve her quality of life and help impact other children/families like her by research being done at the Cleveland Research Clinic for CDKL5.
INSPIRATION IN ISABEL:
Isabel Kay Phelps was born on 12/3/2013 in Kearney Nebraska to Mark & Lindsey Phelps. She was welcomed home by her big brother, Emmett James who was 2 yrs old. Around Christmas time after she came home her mother noticed some odd movements, that were spastic like so she continued to watch over the holidays. On Jan 3rd, 2014 she was exactly 1 mo. old admitted to Good Samaritan Hosptital in Kearney. It was that day that her first recorded seizure was recorded on an EEG, later in that same hospitalization she was sent on to Children's hospital in Omaha for further evaluation. It was truly the beginning of a journey that would bring us to the present day. It took over 3 months, many hospitilazations, so so many seizures and so many unknowns before Isabel's favorite doctor a pediatric neurologist, Dr. Oliver to finally secure the approval of insurances to have Isabel genetically tested. Isabel and her family traveled to Mayo Clinic for extensive physician speciality visits and blood draws for gene testing. While waiting the many months for gene testing results there was alot of hospital travel and stays managing her seizures, feedings by bottle and tube feeding, poor visual acuity and developmental delays. Around the time when Isabel was celebrating her 1st birthday the family finally found out the diagnosis for the disorder that Isabel had, CDKL5.
ISABEL IS THE ONLY CHILD KNOWN IN NEBRASKA TO HAVE CDKL5.
CDKL5 was only discovered in 2004. CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment. It is an orphan disorder, however more children are being diagnosed as awareness of CDKL5 spreads.
CDKL5 stands for cyclin-dependent kinase-like 5, and is located on the X chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms,5 protein. Most children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties.
The next year Isabel and her family has been spent trying to provide comfort, seizure free days and decreasing complications. Isabel and her mother travel often to appointments, unplanned hospitalizations, and have therapies in her home. Isabel has had multiple times in surgery or under anesthesia. The most complex was her her 5 1/2 hour surgery for a Gastro-jejunostomy bypass to prevent complications she was having with some esophogeal ulceratons. She has been free of complications post op. Isabel and her family were prompted and arrangements made to go to the Clevelend Research Clinic for the CDKL5 children. Isabel, her mother, Lindsey and her maternal grandmother, Kandy Pflaster traveled to Cleveland in April 2015. It was a very rewarding opportunity to learn for the first time more about the disorder and for the first time to meet other 4 other children and their families. Lindsey was able to ask other mothers just how they were able to deal with everyday demands and worries for their child, she was able to find out about a support group for families with CDKL5. They encouraged the family if possible to come to the clinic at least once a year so they could follow Isabel, offer new treatment modalities and share new findings for improved care and hope for a cure.
THE GOAL OF GO FUND ME: it was weighed heavily whether we would try this approach to provide a few opportunities to enhance Isabel's care and future. The opportunties is the the following:
1) The Cleveland Research Clinic for CDKL5. It has been a year since Isabel was seen by the speciality physcians. The travel, lodging and meals is cost prohibitive for the family on a single income.
2) It is our hope that Mark & Lindsey, and at least one set of grandparents will be able to attend
The 3rd International CDKL5 Family Conference & Science Symposium
The IFCR is excited to host the 3rd International CDKL5 Family Conference at Eaglewood Resort and Spa in suburban Chicago, IL from June 24-26, 2016. Harnessing the power of collaboration and community, IFCR is proud to partner with our related disorders represented by Rettsyndrome.org (IRSF); MECP2 Duplication and the International Foundation for FOXG1 (IFF) in some joint sessions of common relevance, meals, receptions, and respite.
IFCR is also proud to host the 3rd International CDKL5 Science Symposium for researchers and clinicians in Chicago on June 21-22, 2016 at the Eaglewood Resort. Visit our Symposium page for more more information and registration.
REGISTER NOW | Purchase tickets for all three days or single day tickets for Family Conference
* Full Conference fee per person before May 20th - $309 (includes session materials, and all meals, refreshments and Tribute Reception)
Hotel Room Reservation | Call 1-877-285-6150 between 8am-9pm Central, reference "Family Conference", $139/night resort fees included
To book rooms at the amazing $139 per family conference hotel room rate negotiated, phone the Eaglewood Reservation line 1-877-285-6150, reference “Family Conference”, as this rate includes ALL resort fees and meeting amenities, rate cutoff is May 27th. Please be aware that you may find rates less than our $139/night, calling directly or through broker sites, however they do NOT include the resort fees so will not be less than the negotiated rate. Please be sure you are booked in the "Family Conference" block to avoid these extra fees.
Program Highlights:
* Expert Sessions on Research, Clinical Trials, Genetics, Medical/Symptom Management, Therapies, Communication, Literacy, School, Adulthood, Quality of Life, Fundraising, and Advocacy
* Natural History Study session with the Researcher Symposium open to family attendees on Friday
* Abilities Expo excursions Friday and Sunday afternoons (Expo event flyer here)
* Small Group Meet and Greets
* Expand Horizons with our Related Disorders
* Build Lasting Relationships with the International Foundation for CDKL5 Reserach, Expert Presenters, and Attendees
About 2 weeks ago I began writing the story below to begin a campaign so that Isabel could attend 2 very important events that I describe later in this story. Last week during yet another hospitalization for her there were many family member and friends both local and distant that called, texted and emailed to say that if there was anything they could do just ask. Well as her grandmother I am committed to seeing that we try to make this happen and asking that you read this story and share with others that might be interested. Know that $5 or $10 will be such a gift to Isabel and CDKL5 . Isabel's family is a single income family and have many other care related obligations in her care that makes it difficult to do this. These events are not something that insurance will assist with but the events are very beneficial to the family for improving her quality of life in knowing and finding out the newest findings for CDKL5 from worldwide specialists .
The 2 events are opportunities that would and could improve her quality of life and help impact other children/families like her by research being done at the Cleveland Research Clinic for CDKL5.
INSPIRATION IN ISABEL:
Isabel Kay Phelps was born on 12/3/2013 in Kearney Nebraska to Mark & Lindsey Phelps. She was welcomed home by her big brother, Emmett James who was 2 yrs old. Around Christmas time after she came home her mother noticed some odd movements, that were spastic like so she continued to watch over the holidays. On Jan 3rd, 2014 she was exactly 1 mo. old admitted to Good Samaritan Hosptital in Kearney. It was that day that her first recorded seizure was recorded on an EEG, later in that same hospitalization she was sent on to Children's hospital in Omaha for further evaluation. It was truly the beginning of a journey that would bring us to the present day. It took over 3 months, many hospitilazations, so so many seizures and so many unknowns before Isabel's favorite doctor a pediatric neurologist, Dr. Oliver to finally secure the approval of insurances to have Isabel genetically tested. Isabel and her family traveled to Mayo Clinic for extensive physician speciality visits and blood draws for gene testing. While waiting the many months for gene testing results there was alot of hospital travel and stays managing her seizures, feedings by bottle and tube feeding, poor visual acuity and developmental delays. Around the time when Isabel was celebrating her 1st birthday the family finally found out the diagnosis for the disorder that Isabel had, CDKL5.
ISABEL IS THE ONLY CHILD KNOWN IN NEBRASKA TO HAVE CDKL5.
CDKL5 was only discovered in 2004. CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment. It is an orphan disorder, however more children are being diagnosed as awareness of CDKL5 spreads.
CDKL5 stands for cyclin-dependent kinase-like 5, and is located on the X chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms,5 protein. Most children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties.
The next year Isabel and her family has been spent trying to provide comfort, seizure free days and decreasing complications. Isabel and her mother travel often to appointments, unplanned hospitalizations, and have therapies in her home. Isabel has had multiple times in surgery or under anesthesia. The most complex was her her 5 1/2 hour surgery for a Gastro-jejunostomy bypass to prevent complications she was having with some esophogeal ulceratons. She has been free of complications post op. Isabel and her family were prompted and arrangements made to go to the Clevelend Research Clinic for the CDKL5 children. Isabel, her mother, Lindsey and her maternal grandmother, Kandy Pflaster traveled to Cleveland in April 2015. It was a very rewarding opportunity to learn for the first time more about the disorder and for the first time to meet other 4 other children and their families. Lindsey was able to ask other mothers just how they were able to deal with everyday demands and worries for their child, she was able to find out about a support group for families with CDKL5. They encouraged the family if possible to come to the clinic at least once a year so they could follow Isabel, offer new treatment modalities and share new findings for improved care and hope for a cure.
THE GOAL OF GO FUND ME: it was weighed heavily whether we would try this approach to provide a few opportunities to enhance Isabel's care and future. The opportunties is the the following:
1) The Cleveland Research Clinic for CDKL5. It has been a year since Isabel was seen by the speciality physcians. The travel, lodging and meals is cost prohibitive for the family on a single income.
2) It is our hope that Mark & Lindsey, and at least one set of grandparents will be able to attend
The 3rd International CDKL5 Family Conference & Science Symposium
The IFCR is excited to host the 3rd International CDKL5 Family Conference at Eaglewood Resort and Spa in suburban Chicago, IL from June 24-26, 2016. Harnessing the power of collaboration and community, IFCR is proud to partner with our related disorders represented by Rettsyndrome.org (IRSF); MECP2 Duplication and the International Foundation for FOXG1 (IFF) in some joint sessions of common relevance, meals, receptions, and respite.
IFCR is also proud to host the 3rd International CDKL5 Science Symposium for researchers and clinicians in Chicago on June 21-22, 2016 at the Eaglewood Resort. Visit our Symposium page for more more information and registration.
REGISTER NOW | Purchase tickets for all three days or single day tickets for Family Conference
* Full Conference fee per person before May 20th - $309 (includes session materials, and all meals, refreshments and Tribute Reception)
Hotel Room Reservation | Call 1-877-285-6150 between 8am-9pm Central, reference "Family Conference", $139/night resort fees included
To book rooms at the amazing $139 per family conference hotel room rate negotiated, phone the Eaglewood Reservation line 1-877-285-6150, reference “Family Conference”, as this rate includes ALL resort fees and meeting amenities, rate cutoff is May 27th. Please be aware that you may find rates less than our $139/night, calling directly or through broker sites, however they do NOT include the resort fees so will not be less than the negotiated rate. Please be sure you are booked in the "Family Conference" block to avoid these extra fees.
Program Highlights:
* Expert Sessions on Research, Clinical Trials, Genetics, Medical/Symptom Management, Therapies, Communication, Literacy, School, Adulthood, Quality of Life, Fundraising, and Advocacy
* Natural History Study session with the Researcher Symposium open to family attendees on Friday
* Abilities Expo excursions Friday and Sunday afternoons (Expo event flyer here)
* Small Group Meet and Greets
* Expand Horizons with our Related Disorders
* Build Lasting Relationships with the International Foundation for CDKL5 Reserach, Expert Presenters, and Attendees
Organizer
Kandy Pflaster
Organizer
Cozad, NE
