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Ohio, USA

Born just two days after Christmas, Michael was our long awaited gift. Seconds after birth the ICU needed to resuscitate him due to meconium aspiration, but he was soon breathing and resting in the nursery. What happened next was the first of many moments over the next 19 years in which a doctor told me something that caused my world to suddenly lapse into a freeze frame. My breath stops and my heart skips a beat. My OB came in and said that I should be aware that Michael’s right ear had not formed and there was no opening on the site of his ear, nor was there any form of outer ear. I recall him saying it so calmly that he could have been telling me his lunch selection, but I asked him to please repeat himself and he did, at which point my husband, trying to soften the blow with humor, leaned in and said “well, at least we won’t confuse him with any of the other children leaving the ward.” No, Michael would no longer be confused with any of the kids, anywhere he went because he is, well, one in several billion. Literally. Ear and hearing anomalies are consistent with other DeSanto-Shinawi Syndrome (DESSH) patients as are the many delays, challenges and medical issues that continue to emerge. Despite multiple genetic tests beginning at 4 weeks of age, from the years 2000-2017, we struggled and stumbled from issue to issue, always in search of an underlying diagnosis.

Because of a chain of missed milestones (first words, sitting up, rolling over, etc.), Michael was followed closely in Los Angeles by the Regional Center’s Outreach Teams and at a very early age they began saying the “A” word. Autism. At one year of age he was engaged in 3-5 different therapies a day, many coming to the house and some at speech or sensory centers. His spine had not developed straight which explained why he was in excruciating pain when I put him on his belly to crawl. A physical therapist came to the house a few times a week and we would have to put Michael on his back over a large gym ball and, with each of us holding his shoulders and legs, stretch and roll his body to encourage his spine to bend. It was the first of many interventions I knew we HAD to do despite his blood curdling screams and, alas, it worked! He is a repeated state Special Olympic gold medal athletic recipient --against all odds!

With Cincinnati Children’s Hospital ranked by US News and World Report as number three in the nation, we chose to move there for the best global care for Michael, and indeed, he has had the best! He is currently followed by 12 different excellent specialists. While his developmental, sensory and behavior challenges escalated, several life-and-death experiences made it strikingly clear that we were also dealing with an even larger array of physical and medical problems. Michael has been in the ICU multiple times, the first being at six weeks old with RSV, later with sinusitis that had nearly caused a brain abscess followed by life-threatening infections, which, finally after going into trauma at Cincinnati Children’s Hospital, with chaplains on hand, we learned were all caused by hypogammaglobulinemia. This diagnosis is a problem with the immune system in which not enough gamma globulins are produced in the blood (thus hypo + gamma + globulin + emia). This results in a lower antibody count, which impairs the immune system, increasing risk of infection. Michael has required numerous procedures including five different dental surgeries (dental issues are noted in other patients with this syndrome), a pilonidal cyst surgery and several related procedures following it due to severe hemorrhaging, a bone anchored hearing device implant in his head and casting and custom bracing of his legs at age eight. At 19, Michael is undergoing a new set of castings/leg “boots” that will be put on his legs and changed once a week for seven weeks, with the goal of slowly re-aligning his leg to relieve the issues developing in his spine from overcompensation. There has never been a time over the last 19 years that we haven’t discovered another challenge for Michael to overcome, but overcome he has, in his own way: Michael Style!

It was not until he was 17 years of age that the genetic team at Cincinnati Children’s requested that Michael, his father and I provide blood to conduct a total (or whole) exome sequencing. I was almost speechless six months later when the results came in and the geneticist said on the phone that there was a “match” with a syndrome. Within the hour that she told me of his results indicating Desanto-Shinawi Syndrome, I was on the phone with Dr. Shinawi and so, the journey continues.

Total or whole exome sequencing is the only test that can reveal the rare genetic disorder and unfortunately, is prohibitive to the majority of people who lack the proper medical insurance or funds. This testing is critical for a diagnosis; a diagnosis that could mean the difference between special needs services or not in certain parts of the US and the world. Foundations and funding streams will not invest in a cure for something that such a small percentage of people have been diagnosed with. We hope to see more accessibility to whole exome sequencing and this type of testing become more common as the field of genetics grows. We are convinced there are many undiagnosed cases, and a higher number of patients would indeed inspire great interest in financing further research for a cure.

Nearing 20 years of age, Michael is among the oldest known patients diagnosed with DESSH. Among older patients is a person 15 years older than Michael who has Parkinson’s Disease. It is too early to say if this is an expected outcome of the syndrome. Being that there is no clear understood prognosis, we continue to do whatever possible to improve Michael’s quality of life, his health and his comfort. More than any diagnosis or any label, Michael is a beautiful soul who, yes, loves to eat and play video games, but far more than that, he loves people deeply. He knows NO strangers, holds no grievances and shares a wide smile and "hello" to literally everyone he walks by! Recently, we had a graduation party after his 12th year in High School which was attended by teachers who worked with him 14 years ago! NO ONE EVER FORGETS MICHAEL! His huge love and laugh leave a lasting positive impression on all, which is all that any of us can ever hope to do! He’s my hero.

The health issues and medical history listed are but a sample of the adventures this strong child has endured and continues to endure: global developmental delay, sleep disorder, macrocephaly, congenital heart disease-coarctation of the aorta, apraxia, congenital abnormalities, including aural atresia microtia, intermittent explosive disorder, hypogammaglobulinemia, stereotypies, autism spectrum disorder, nocturnal enuresis (+13 years), encopresis (+15 years), fine motor impairment, severe hearing impairment (conductive hearing loss of right ear with unrestricted hearing of left ear), external ear anomaly, speech delay, PDD (Pervasive Developmental Disorder), limited joint range of motion (ROM), progressive astigmatism, abnormality of gait, impulse control disorder, palpitations, oculogyric crisis, sensory disturbance, mixed rhinitis, food allergies, keratosis pilaris, mood disorder, ADHD, anxiety disorder, borderline intellectual functioning (IQ is 70), bipolar disorder, lack of coordination, dyslipidemia (goal LDL below 100), migraine, muscle weakness, pilonidal cysts, mixed receptive-expressive language disorder, post-traumatic stress disorder, BMI 95-99% for age.

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