Dec 24, 2019
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Acute Mastoiditis
CLINICAL SIGNS -- lethargy -- abnormal tympanic membrane -- postauricular erythema -- tenderness -- fever -- narrowing of external auditory canal -- otalgia -- otorrhea
MANAGEMENT -- antibiotics -- surgical drainage
COMPLICATIONS -- meningitis -- epidural or subdural abscess -- facial nerve palsy -- hearing loss -- labyrinthitis -- osteomyelitis -- venous sinus thrombosis
Straight Outta Neutrophils
Back in July, when I was dealing with a sick 9 month baby, I had never heard of neutrophils. Three months on, my learner plates have come off, so to speak, as I’ve learned a whole lot more about them. I’m currently coming to terms with the fact that, Kaydence has got a rare blood disorder called Severe Chronic Neutropenia (SCN). Which is also a rare type of primary immunodeficiency. And what I…
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Mastoiditis - What It Is, Causes, Symptoms and Treatments
Mastoiditis – What It Is, Causes, Symptoms and Treatments
Mastoiditis – What is, Causes, Symptoms and Treatments of this condition. In addition, mastoiditis is an inflammation of the mastoid bone, which is located in the prominence behind the ear , and is more common in children under 2 years old, although it can reach people of all age groups.
Inflammation usually occurs due to a complication of otitis media, when the microorganisms that cause the…
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So Rare Genetic Disorder with Gene Microdeletion 15q13.3.
New Story has been published on https://enzaime.com/rare-genetic-disorder-gene-microdeletion-15q13-3/
So Rare Genetic Disorder with Gene Microdeletion 15q13.3.
A military dad requests and receives a compassionate reassignment to Baltimore so his daughter can once again receive the expert care she needs for her rare genetic disorder at Kennedy Krieger.
With her big bright eyes, auburn curls, and contagious giggle, 5-year-old Megan Miceli is truly one in a million. You could even say she’s one in a billion—Megan has a genetic disorder so rare that only a handful of cases have been reported in the world. Since she was a baby, she has been under the care of neurologists at Kennedy Krieger who, after extensive testing, diagnosed her with gene microdeletion 15q13.3.
This tiny piece of chromosome missing from her DNA affects nearly every aspect of her life. Megan’s medical problems are complex—aside from having low muscle tone, needing a feeding tube, and being unable to talk, she suffers from seizure-like episodes. Without warning, Megan can experience an attack of paralysis on the left side of her body multiple times per week, each lasting between five and 20 minutes.
Despite these problems, Megan is a joyful little girl. “She laughs and smiles all the time,” says her mother, Amie. “She loves to be kissed and give us kisses.”
Megan made great progress under the care of Drs. Ali Fatemi and Alec Hoon, and physical therapist Megha Patel. As a toddler, Megan began gaining skills like sitting up and cruising along furniture, and after months of physical therapy, she took her first steps unassisted.
So when Megan’s father, Nick, who is in the army, received a reassignment to Ohio, he and his wife, Amie, worried about trusting Megan’s care to a hospital other than Kennedy Krieger.
“You wonder if she will get the same high quality care, attention to detail, and compassion we received at Kennedy Krieger,” says Nick of the concern they had about moving away. “You know deep down that it is impossible to replicate.”
As it turned out, their fears were not unwarranted. After the family moved to Ohio, Megan acquired mastoiditis—a serious infection of a bone behind the ear—and became very sick. After that, she declined to the point where she couldn’t even sit up.
The doctors in Ohio had never seen a disorder like Megan’s, and since her case was so complex, they didn’t know how to treat her. To make matters worse, Amie was not able to get Megan physical therapy appointments, and she felt like the doctors weren’t listening to her. Megan was in and out of the hospitals for eight months, suffering from seizures, and not getting the treatment she needed.
“One of the most important things we can offer, aside from expertise, is being readily available for our patients and families,” says Dr. Fatemi. “That’s one of the main things that makes a difference.”
Worried about Megan’s failing health and determined to get their daughter the care she needed, the Micelis filed a request to the military for a compassionate relocation back to Baltimore so they could be near Kennedy Krieger. Drs. Fatemi and Hoon filled out stacks of paperwork about Megan’s condition as part of the application process. The request went up the military chain of command, and after weeks of waiting, Nick received orders to report back to Baltimore.
“When I got the final approval, I was excited…pumped, really,” says Nick. “Then we emailed Dr. Fatemi and Dr. Hoon and thanked them over and over for what they did for us.”
Megan Miceli hugs her therapist, MeghaBack at Kennedy Krieger, Megan was once again under the care of expert neurologists who knew how to treat her. Dr. Fatemi started her on new medications and supplements, and with the help of physical therapy, Megan slowly began progressing again. When she was reunited with her therapist Megha, Megan immediately smiled, grabbed her, and gave her the biggest hug. There was no doubt that Megan was relieved to be back.
“You can see in Megan’s face how comfortable she feels at Kennedy Krieger,” says Patel. “She’s been coming here since she was 6 months old—she knows all the staff here. It’s really great to know that we can work together again to help her progress.”
Megan relearned how to pull up to a stand and walk with a walker, and in September, she took her first steps again during a physical therapy session—six steps, to be exact. “We were in total shock,” says Amie. “Just out of nowhere she took off!”
She began trying foods for the first time—ice cream is her current favorite—and most importantly, her major seizure episodes stopped.
The Micelis are thrilled with Megan’s progress and grateful to be back at Kennedy Krieger. “Her doctors and therapist are amazing—they are the best of the best!” says Amie. “Without them, I don’t know where we would be.”
… made it into work. Have had to keep my sunglasses on for the first hour because the lights were so bright I couldn’t see where I was going… stupid meds making my eyes so sensitive TwT Talked to my boss, I don’t get sick pay till I’ve been with the company for a year… Yeah I get that.. but I’m only a few months away.. oh and I’M KINDA YOUR DAUGHTER?! Blarg what’s the point of working for the family business if you can’t bend the rules just a Lil bit? I don’t get higher pay, or better hours or any of that shit… so can’t we make it so I won’t go in the poor house but can take the fucking days I need to get better for once?
i think my ear infection from a week or so ago has turned into mastoiditis. Going to docs tomorrow after my work trial.