Ayden

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Ayden

Located: United States

Symptoms: Academically challenged in all areas, Arg882His mutation—most linked to patients with AML, Atrial septal defect, Central sleep apnea, Difficulty participating in activities that require physical/mental capabilities, Difficulty sleeping, Early onset of puberty, Easily overheats, Failure to meet major milestones on time, Febrile seizures for a period of time, Global developmental delay, Hypermobility, Mild autism spectrum, Overeating, Overgrowth above the 99th percentile for height and weight, Oversized and overcrowded teeth, Pronated, flat feet, Repetitious, Small, high palate, Speech developmentally inappropriate and immature

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Ayden was diagnosed with TBRS in April of 2015. We were very excited for our long-awaited diagnosis. Although it still does hold some unanswered questions, at least we have a name, a reason, and can begin to focus our energy and efforts to the best prognosis and future for our son. We are also very thankful for the profile website and the Facebook page for allowing us to share our journey with everyone as well as hear about theirs.

Ayden is an incredible little boy who has been through so much in his short life. With that being said, Ayden is the happiest 14 year old I have ever known. He sees the world for its true beauty, with no evil, no hate, and no discrimination. Everyone is equal, pure, and true in his eyes. If only we all could see things this way! Ayden loves his dog, Lucy, his brothers, Drew and Alec, and loves parties and parades! He also loves to swim in his pool, participates in equestrian therapy, has participated in Special Olympics bocce ball, and adores school, friends, teachers, and family.

To start from the beginning, for the most part, I had a fairly normal pregnancy. I was, however, put on bed rest and was induced two weeks early due to the beginning stages of pre-eclampsia. When Ayden was born, the umbilical cord was wrapped two times around his neck and he was pretty gray and not breathing. Although he did not have to be resuscitated, it did seem like forever when he started to breathe on his own. He weighed a whopping 9 lbs 2 oz.

The day after he was born, I suffered from postpartum cardiomyopathy, (aka congestive heart failure). Needless to say, I had to stay in intensive care for a week after delivery and they allowed Ayden to stay in the nursery so that he could be with me throughout my stay. When we left the hospital, Ayden had a short spell of low sugar levels, but other than that all his tests were normal and he was cleared to go home.

For the first three months, all seemed normal, other than he was a pretty big baby. He ate well, but not too much, slept, and was extremely peaceful. He did not smile as much as my other two but I really didn’t put too much thought into it. When I took Ayden in for his three-month check up, the doctor was alerted to the fact that Ayden was not able to properly hold his head up, (again, I resorted to the fact that he was a big baby...made sense to me). He immediately referred us to a specialist at Children’s Hospital in St. Louis. After having the initial, immediate blood tests related to hypotonic kids, all of which came back negative, the doctors agreed that we would continue to monitor his situation through neurology and our regular pediatrician. They also recommended we begin early intervention therapies as well.

During this time to age one, Ayden ate pretty well, but was not able to hold his head up, could not sit up, and was unable to even hold a bottle. Although Ayden seemed to be progressing, it was very slow. The first milestone he reached was holding his head up at age one. He was able to sit upright at about one year and six months, army crawled at two years, and started walking at three years and two months of age. During this time, Ayden had physical therapy, occupational therapy, and speech therapies four times per week. Ayden still does not speak in full sentences most of the time.

Ayden was hospitalized at eight months old for pneumonia for a week. Shortly after he came home, Ayden would hold his breath when I put shirts over his head or when heavy wind was blowing on him. He did this for his first four years of life. When Ayden was two, he had a series of sleep studies in which they discovered that he also had central sleep apnea. He was put on a pulse oximeter and oxygen at night. At age three, Ayden had hernia surgery and three febrile seizures within four weeks of each other. An MRI showed that he did not have epilepsy, so doctors ruled the seizures to only be fever induced. They did discover, however, that Ayden had a Chiari malformation type 1, but within a year there had been no change.

He had tubes put in his ears at age three for his continuous ear infections. Ayden has been seen by cardiology for his fingernails and lips turning blue, but nothing has been determined to be the cause of that. He had reconstructive foot surgery in the winter of 2017, and will have to have the surgery repeated as his arch has since collapsed and he has developed a severe bunion as his big toe completely turned under his second toe in order for him to be able to stabilize and balance himself. He also had his tonsils and adenoids removed twice to help with this apnea and snoring/sleep issues. Ayden has had blood tests for various syndromes throughout his entire life and some of the most recent included Weaver syndrome, Sotos syndrome, and Prader-Willi syndrome. Ultimately, whole exome sequencing identified Tatton Brown Rahman Syndrome as the correct diagnosis.

Ayden has a variety of habits that seem to be pretty common among the group of kids with TBRS. He is very repetitious in his day-to-day language, loves to eat all of the time, and has to be monitored closely. He is very clumsy, flat footed, has very soft skin, and mosquitoes love him! Ayden has a small, high palate, and he is nearsighted and wears glasses. He is easily frightened by stuffed animals and characters dressed up. Ayden also does not sleep through the night all of the time. He has night terrors that almost seem to be seizure-like tremors three to five times per night. He has undergone an EEG for this, had several sleep studies, and has been diagnosed with central sleep apnea. He also temporarily wore a BiPAP machine to help with this, but has since stopped using it. We have had to put an alarm on Ayden’s bedroom door as well as a house alarm, and we have to lock his bathroom door at night, because he has gotten up, wandered outside, walked in the kitchen, and flooded his bathroom. Ayden had to wear adult nighttime diapers until he was 11 years old due to wetting at night.

At school Ayden is in a self-contained special education room as he is very developmentally delayed. He also still receives speech, occupational, and physical therapies. We recently added Ayden to a social group to help him become more aware of situations that are appropriate and inappropriate.

Ayden is such a joy to be around and always makes us laugh! We pray that someday, some way, Ayden will be able to overcome his many obstacles! Thank you for allowing me to share our story and for sharing yours!

Written by his parents, Jennifer and Mike Isaacs.