Although my start with special needs started long before Seamus was conceived, he seemed to be the start of my journey. He just took my entire world and flipped it on it's side. AT BIRTH! Like everything else he does, Seamus made his entrance into this world a grand one. Plenty of dramatics, and worry. What else was fitting for my little fighter? This little alien is really the first time I remember seeing Seamus. In the NICU after they had carted him away hours before without really any word or explanation. And all anyone could think was "What is this?" He was different, right off the bat. We knew he looked different, barely cried, had bent fingers, overlapping toes, legs are were always crossed and he never opened his eyes. Ever. Things snowballed from there making his condition seem more and more serious. One month later, we were allowed to take him home for the first time. On Both Fronts, the Instagram blog, starts after a few months of being home and needing some outlet to other parents like me, though I was convinced there weren't. One amazing woman reached out to me through some kind of hashtag that found one of my posts about Seamus and she comments an innocent comment "Oh, he looks so much like my son." Though I don't believe they truly resemble each other, I checked out her posts to find her son's diagnosis (children with genetic syndromes tend to resemble other children with the syndrome). Instantly after finding what little I could on the syndrome known as Ohdo I contacted the genetics team at the Children's Hospital with a name and strong belief that this is what my son has. They agreed with me. Before my next appointment, they said they'd be prepared and well read on the syndrome to know the best course of action for Seamus. Ohdo syndrome (SBBS) is rare genetic condition that results in the alternation of the KAT6B gene which blocks a protein from developing properly. It isn't the result of anything done during pregnancy, environment or ethnicity of the parents to cause the syndrome; nature decides. The syndrome affects both sexes easily, unlike autism, so girls are diagnosed just as much as boys are. Still, genetic counseling is recommended to parents to weight the chances of possibly conceiving another child with the disorder by a number of egg or sperm cells possibly being created with the gene alteration. Chances of conceiving another child with the syndrome are incredibly low. One of the main identifies of the disorder are the shortened fissures (eye openings) and hypothyroidism. Learning difficulties are also associated with the syndrome but are a wide range of disability depending on the child. Most of the other characteristics of the syndrome are variable, meaning that it doesn't have to happen. 50% of the children are deaf/blind or both. Seamus is neither! See? It all depends. That's how genetics goes. To Learn More, Click Buttons BelowSeamus continues to fight against the odds that SBBS stacked against him. We still must put braces on his feet at night, so that his foot might be straight when he walks. Every day at nap time, he wears hands splints to open up his clenched fists. We go to the doctor often to monitor his weight gain, his vision and hearing, his swallowing difficulties, and for his thyroid. Each week we have many therapy appointments to keep him strong and help his muscles build stamina. Early Intervention stops by every other week to watch his progress and make sure his meets are met by us. Needless to say, I'm a busy SAHM. At a year old, he sits up. He doesn't walk, or take steps, or even crawl. It probably won't even happen until he's four years old. His feedings are all done through a tube in his stomach. We've slowly started giving him baby food but progress is slow. Who knows how long is g-tube will be in there! But we still hold out hope for him. If anything marks kids with Ohdo it would be determination. They constantly learn skills, trying to become as independent as possible. All of them overcome odds stacked against them. Seamus has surpassed even the wildest dreams of his doctors which is saying something. So in the end, we got one of the best kids in the world. One who gives it his all, fights until the lights go out. Sometimes that's the ones you need to give you strength, because if he isn't giving up, then I'm sure not going to. Be sure to follow us on Instagram @onbothfronts
3 Comments
Manahil Javed
4/30/2018 09:40:36 pm
My 16 month old son was also diagnosed with sbbs variant of Ohdo syndrome. Has gtube, vision limitations, heart defect, hypotonia, GERD, only weighs 7kg, can't crawl or sit on his own, microcephaly, and much more. It's been a really tough year so far and have no idea of what the future holds for him. How much improvement will we see ? Will he have intellectual problems as well? Will this battle ever end? For now it's just endless appointments and running from one hospital/clinic/ centre to another. Good luck to you 😚
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Kathy erb Ottawa
1/12/2020 09:10:24 pm
Hi, My granddaughter was born with the same genetic disease. Dx around 18 mths by genetic testing. She does have 2 tiny holes in her heart expected to mend on own, born with such a tiny cry, in NICU for 12 hrs. She failed to gain weight and has been for a long time. Was hospitalized. Asthmatic. Feeding problems is main issue, siing Occupational Therapy, Dietician at Childrens Hospital. Also next to no speech, . Was late in most of her milestones. Will be 2 in late march 2020. She is very tiny . Wearing 12 mth clothes. Thyroid did show as slightly low..
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AuthorGabrielle Rae is a special needs, stay at home mommy of two boys. She enjoys reading and writing novels in her spare time. @onbothfrontsArchives
August 2018
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