The latest on Hope 8/21/21.
July and August were tough on Hope and the family. She spent 17 nights out of 30 in the hospital. The first was 7 nights due to Rett Syndrome complications that caused aspiration that developed into pneumonia. Then two weeks later she contracted respiratory syncytial virus (RSV), putting her in the hospital again for 10 nights. She aspirated again during the 2nd stay. She is now on special formula to hopefully help her gain some weight. She has not gained more than a pound in over 6 months. She will gain a few ounces and than lose them.
These 2 hospital stays delayed their visit to an important Rett Syndrome Clinic consultation that was scheduled on Friday, July 30, 2021, but they got it rescheduled for Friday, August 13th. The meeting went well. They are blessed this Center of Excellence is about 4 hours drive to the Greenwood, South Carolina called Greenwood Genetic Clinic. This specialized clinic involves important research and clinical trials for Rett Syndrome. In addition, worldwide scientists and researchers are getting closer to finding a cure and/or better treatments for Rett Syndrome, giving us Hope 4 Hope. The next step is to get to their hospital there, so Hope can see specialists that treat Rett children every day. The goal would be to visit those specialists annually and continue her normal visits at UNC Children’s Hospital.
Over the last few months, Seresa and Jason’s home has become a mini-hospital. Hope requires oxygen when she is in sleep mode and more if she is sick. She has a pulse oximeter, suction machine, NG tube supplies, feeding pump, lots of medications, stander chair (they are awaiting her arm/ankle braces, plus a trunk support Spio), and a special sitting chair. Currently, Hope has PT twice a week and OT once a week to keep her strength up with hope to eventually get her to sit up on her own. Hope is not able to completely rollover and has never been able to sit up without proper support.
Right now, Seresa and Jason are trying to avoid another hospital stay, as she has aspirated once again and is being closely watched (with oxygen) to ensure they do not have to go back to the ER. She was just put on antibiotics to help her get well. She has her G tube scheduled for September 8th and needs to be healthy.
Hope Marie was born May 2020, during the global pandemic of COVID-19. Jason and Seresa were HOPING to have a girl as this was the last child they planned for their family unit. They also have two sons – Owen and Connor who love their sister dearly, plus an angel baby “V”. Early on before Hope was even born, her mom had a deep impression that she was supposed to have one last baby and if it was a girl, her name should be Hope. Little did they know what that name would mean for their life to come.
Hope from birth had low suction ability, reflux, and some shaking when she would awake from sleep. No one was really alarmed by these at that time. Everyone would comment on how Hope was a very “chill” and “relaxed” baby. She started sleeping through the night early on too. This sounded pretty perfect, right? It was around four months old that Hope started to change. She no longer would laugh or try to make sounds. This is when her ongoing chest congestion started, which lead to many doctor visits, but no one could do anything for her. She still stays congested to this day. The major delayed milestones and regression was noticed during her six month development evaluation at her Pediatrician. This leads to an urgent neurologist visit at UNC Children’s Hospital the following week. They classified her as low muscle tone. Further doctor visits were planned and slowly they started to get answers to “why.”
Some of the developmental issues noticed was lack of developing words and speech, breathing issues, swallowing issues, seizure-like episodes, mood issues, emotional issues, repeated hand movements while awake, not crawling, not sitting up and not walking at the time of her first birthday in 2021.
In March 2021, Hope was admitted to the hospital for an overnight EEG that turned into four nights. This is where she had her EEG performed, MRI, Spinal Tab, and lots of bloodwork. Hope did not response well to anesthesia, and gave everyone a scare during her procedures. Everyone is on high alert now for any procedures that will require anesthesia in the future. She got COVID right after she got released too!
She was given her first medication for seizures during this hospitalization. During this time Seresa fought for crucial genetic testing, but insurance did not want to do a full genome sequencing. The plan B was an expedited epilepsy and neurotransmitter panel. At this point, they really did not know what to expect. Everyone was thinking it was some type of neurological condition and/or syndromes.
The crucial DNA genetic test results finally came in on April 23, 2021. Seresa and Jason were literally on the beach with their family when the life changing news came. Their hearts broke into a million pieces. Rett Syndrome was foreign to everyone and never once crossed their minds as a possibility. The results have changed everyone’s outlook on Hope’s life. She had not even hit 11 months-old and it has been hard not to mourn the ‘life” they thought she would have. This diagnosis makes her one of the earliest diagnosed patients of the condition called Rett Syndrome. Hope’s non-curable diagnosis will lead to different degrees of severe impairments, which will affect nearly every aspect of her life: ability to speak, walk, eat and breathe easily. The hallmark of this diagnosis is near constant repetitive hand movements while awake. Cognitive assessment is complicated, but scientists know that Rett Syndrome patients understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.
Based on a 2015 clinical study, the median diagnosis of Rett Syndrome is between 2.7 years old to 3.8 years, but delayed diagnosis for this condition has improved among subspecialists and pediatricians since 2006. Hope’s non-curable neurological disorder will require a lifespan of expensive medical and dependent care, until there is a breakthrough in a cure and/or better treatment for Rett Syndrome.
Seresa did eventually win the battle with insurance and had the full genome DNA testing completed on Hope to ensure there was nothing else going on with her. The good news is this ruled out any additional genetic conditions. That was a big blessing.
Despite her delayed milestone markers and other developmental issues, she continues to understand far more than she can communicate to someone with a delayed communication deficiency, evidenced by her bright and attentive blue eyes, and her ability to express a wide spectrum of moods and emotions. It has been trial and error trying to figure out her delayed and limited communication skills, but the parents, family and caregivers are learning how she is communicating her needs daily, which will improve in a limited capacity during her lifespan.
Hope is a special little girl that is adored by everyone, especially her two brothers. The bond she has with them is so special. We are all blessed to have Hope in our lives.
Her Name – Hope
After Seresa and Jason had their second boy, Seresa continued to have a heavy heart that their family was not complete. However, she pushed those thoughts aside as she had two boys only 17 months apart at the time. When the decision was made to try for the final baby, Seresa talked about naming the baby Hope if it was a girl. They never revealed the name to anyone until they knew that their third child was going to be a girl. Their oldest was the first to give an indication they were having a girl too. One day in the car, Owen asked his dad, “Why is it taking so long for my sister to get here?” They had not even told him that Seresa was pregnant either!
***You can continue to follow Hope’s journey at:***
People often wonder what Rett Syndrome is like and this pretty much sums it up.
This was Seresa and Hope on the way to their Greenwood, SC visit to see the doctor that specializes in Rett Syndrome.
Hope to be so small – takes a lot of medication daily.
Hope’s first birthday!
The family is looking forward to Halloween 2021! This was Hope’s family last year.