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Located: United States

Symptoms: ADHD, Cognitive disability, Overgrowth


Adam Parsons passed away July, 2019. He was a beloved member of the TBRS family and is missed dearly. His mother Michelle had written this profile of him in January, 2019.

On January 16, 1998, I became the proud mom to my third child, a son named Adam Ratell Parsons. He was given the name Ratell as a middle name to carry on the maiden name of his maternal grandmother. Adam was born at 42 weeks gestation. He was born at Saint Francis hospital in Hartford, CT. My pregnancy was uneventful. I actual gained less weight than I did with his brother and sister. Adam’s delivery was very complicated. I was induced twice. During the push phase of labor Adam wouldn’t progress down the birth canal. They tried forceps unsuccessfully so Adam was vacuum-sucked out.

He was born weighing 11 lb 9 oz and was 24 inches long with a head size way above normal. lt was the size of a 10 lb bowling ball. His cry was so soft and muffled due to the meconium. The celebration of the birth of my son was soon clouded by the realization that Adam was born with serious medical problems. ln less than 24 hours, Cardiology was introduced due to a heart murmur and the abnormal shape of his chest cavity, which was shaped like a pear. The genetic team arrived and advised that a decision may have to be made as to male or female child. After testing, Adam had the XY. Adam has no testicles in his sacs. Adam slept under special nursery lights designed to eliminate his jaundice. This was just the start of the many hard roads that were coming ahead. And I realized that this was not all normal after having two healthy children.

So what is supposed to be such a joyful and happy time as the birth of your third child turned into the first of the very long emotional, physical, and mental road, and it was just beginning.

After four days in the hospital I was finally permitted to take Adam home. Knowing that Adam had medical problems I maintained in close and frequent contact with the family pediatrician. I realized early on that Adam was not reaching developmental milestones.

The first two months that are supposed to be well visits for a newborn turned into weekly visits and were filled with the unknown. Two months brought on a whole new level of issues, and while in the doctor’s office Adam went into respiratory distress. It was March 17,1998. I thought he was just ill with the common cold and with Adam being so large it affected him differently. This began the first of many ambulance rides together. We were admitted to CCMC and didn’t realize at that time how much it would become our second home.

I will never forget going through the doors and having Adam taken from me. He was cyanotic (which means turning blue), indicating respiratory failure. Parts of his lungs had collapsed, which revealed pneumonia. (First of many). His chest x-ray revealed an enlarged heart. I had to remain outside of the room while Adam was intubated to enable him to breathe. The next time that I got to see Adam he had all kinds of tubes coming from him and he wasn’t breathing on his own. He was under lights as his body temperature had dropped. Coping with normal mom feelings on top of post-partum, you can only imagine what it was like. The doctors brought us into a room and asked if there were other family members to call because things were not looking good due to the severity of Adam’s issues. Adam was baptized the very next day. Adam remained in the Pediatric lntensive Care until May 1.

This is another part of the path of life with Adam where I learned all about PEEP, pressure, pulse ox, NG, breath h sounds, EKG, EEG, cat scan, MRl, retracing, CO2, and the list goes on and on. . . .

Adam’s medical condition encompasses a wide spectrum of abnormalities and at this point in our lives had not be diagnosed. Adam barely had the muscle strength to smile. He works so hard just to breathe. Adam has gone through so many tests and surgeries, which have included bone aging, muscle biopsies, brain tumor removal, tubes put in to his ears and removed, eye muscle tightening for his eyes, heel cord release, reconstructive surgery on his feet, fused legs, undescended testicles, Arnold Chiari anomaly repair, shunt, tonsils and adenoids removed, and the list goes on and on. . . .

The medical staff didn’t not have much hope for Adam. They say his combination of many problems might be unique to Adam and the medical specialists have suggested that Adam could just suffer from what might become known as the “Adam Syndrome.” Which means they really have no idea what is wrong with Adam. No specific diagnosis was very hard to deal with. Adam continues to battle and has come a long way but the future like everyone’s is unknown and very scary. We have come so far and not to forget but there are two other healthy children that have their own identities and needs. Many times I have thought about just throwing the towel in. When I look at Adam’s brother and sister and see how much they care and love Adam and the huge smiles and the sound of Adam calling and saying Mom makes me keep on going.

The heat of the summer makes it hard for Adam to breathe and requires him to remain in the house or in air-conditioned areas. This makes it hard to do many summer activities with Adam.

ln March of 2003 Adam had an MRI that revealed a pineal tumor in his brain. After undergoing a 10-hour operation the tumor was removed and luckily it was not cancerous. This type of tumor can come back and we may not be so lucky. We thought after that we would have some time. In the summer of 2003 Adam was admitted once again for his pneumonia and during this admission Adam coded and started having seizures, which led to a stroke. Another 3-month stay for us.

You really don’t realize how fortunate you are to have a healthy baby, until you have a child with special needs. I have always tried to maintain a sense of “normalcy” amidst the constant flow of medical professionals including physical therapists, speech therapist, occupational therapist, and a nurse who helps provide care for Adam at home. There are increased noises, whistle beeps and alarms sounding from all the medical equipment, not to mention the impressive space utilized by Adam’s paraphernalia.

I love to experience normal life events with Adam. Adam being Adam has had the doctors scratching their heads, perplexed as to why this child has chronic lung disease, difficulty chewing, seizures, strokes, and many other physical and mental development impediments that have caused Adam to undergo many operations. Adam understands most of what is said to him and he has learned well over 300 modified signs in order to communicate. Doctors say that he has the cognitive and mentality of a two- to three-year-old.

There are major decisions you have to make, such as surgery or not, and fighting the insurance companies to cover equipment, therapy, surgery, and alternatives. I’m realizing I can’t fix everything for Adam. I can’t dictate Adam’s future. I am much more than just a mom dealing with insurance companies, therapists, and doctors. Adam’s equipment alone can fill an entire room. He used to utilize a pneumonia suit (which was a special type of vent that no other child has in the state of CT), nebulizer, chest vest, cough assist, pulse ox machine, suction machine, and oxygen tanks. Meeting Adam’s costly medical and financial needs has placed a tremendous burden on myself and my family. I have cut corners and made adjustments. I am unassuming, yet humbled by the daunting task of balancing normal everyday life while trying to work full time and maintain the responsibilities for my family and a seriously ill child.

Being a mom of a child who is chronically ill you count your day-to-day blessings even more. Our children bless us in many ways more than we can count, and Adam is a big blessing. Maybe he was sent to me so God could display his love for us through him, for we have more love for him than I have even known before. As most parents I have accepted many circumstances and life goes on. Sure there are the tears and the trail of stress and the feelings of hopelessness, yet these feelings quickly diminish as Adam continues to show me his accomplishments.

Adam reminds me that it’s the simple pleasures of life that mean the most—a smile, a sign, a new tooth, taking that first step, not getting sick after a meal, grabbing at that toy and holding it, a hug, and breathing. Taking life day by day and enjoying it to the fullest.

Adam is now a 20-year-old boy who is very attached to his brother, sister, and myself. Adam loves to be cuddled by me. At times this can make it even more difficult to endure the everyday tasks that my life warrants.

Adam compulsively scratches at his chest and doesn’t stop when he starts to bleed. This has to be monitored closely due to Factor VII deficiency (which means he doesn’t clot). He has behaviors that exhibit the autism spectrum but has not been diagnosed with it. Adam struggles with sensory integration, proprioceptive system issues, and perseverating (repeating himself over and over). Adam’s CO2 levels continue to climb. He is nonverbal but communicates with modified signs and can get his point across as to what he wants. He loves to be around people and he loves to give and receive hugs and touch people.

What an emotional day June 28th will always be to me. First, this was the day my first son was born, Andrew. Second, after 20 years with no answers and blood test after blood test for many syndromes, like Sotos syndrome, Weaver syndrome, MOMO syndrome, and Prader-Willi syndrome, my rare and complex son Adam is finally given a diagnosis. I was told I would probably never get one and it was just the Adam syndrome. I am overwhelmed by years of banging my head against walls trying to get the right medical treatment and care in place along with educational pieces. Adam has a change in one of his genes and this has caused him a lot of medical issues.

Through all of this Adam is still a very happy and loving young man. He can usually be found with a huge smile and open arms for hugs. He sure does have a lot to tell you. I am so thankful for my Rare Adam. You never dream that a rare disease would affect your family. I have been blessed with unconditional love and joy and the experience I have been given raising someone so rare. It may bring extra challenges and worries, and I wish many times I could take away the pain and frustration and struggle for Adam. I wish people could truly understand the level of joy I feel everyday raising Adam. I was the chosen one. Alone we are rare but together we are STRONG!!! God sent him to me for a reason.

We all have gene that make us small, tall, thin, fat, clever, brown hair, blonde hair, bald, and everything else in between. Adam was just dealt one of the special hands as his gene mutation is a bit more far reaching than that.

Adam has a genetic condition, DNMT3A Tatton Brown Rahman Syndrome, first diagnosed in 2014 with about 75 diagnosed cases. Adam is the fourth in all of New England. This is all still new but we are very fortunate and will be going to New York in September to meet with Dr. Tatton-Brown and other families. I feel like I have won the lottery.

Adam has a variety of the habits that I am reading about with other kids with TBRS. His repetition with his daily actives and language, how much he loves to eat, and he needs to be watched as he is a choke risk. Adam has soft skin and his balance isn’t very good. He wears AFOs, has central sleep apnea and developmental delays, is way above average for height and weight, and has respiratory infections, skin break outs, and frequent UTIs.

As my children were born I wanted them to be perfect. When they were babies I wanted them to smile and be content playing with their toys. I wanted them to be happy, to laugh continually, instead of crying and being demanding. I wanted them to see the beautiful side of life. As they grew older I wanted them to be giving instead of selfish. I wanted them to skip the terrible twos. I wanted them to stay innocent forever. As they became teenagers, I wanted then to be obedient and not rebellious, mannerly and not mouthy. I wanted them to be full of love and gentle and kind hearted. “Oh God, give me a child like this,” was often my prayer. One day he did. Some call him handicapped. Not me, I call him perfect...and his name is ADAM.

He is the most wonderful, joyous gift. I cannot imagine my life without him. Adam has made me a stronger person than I ever thought that I could be. When you have a child with any kind of disability you become a different person. Some days I am numb due to all of the things that we have been through. This goes without saying I would not give Adam up for the world.