Makayla ’s story: Living with Leri-Weill Dyschondrosteosis

Our daughter Makayla was born perfectly healthy on April 5th, 2014, passing all of the usual newborn screenings without issue. From day one, her personality shone through. She was strong-willed and had a smile that would light up her eyes before her mouth even showed a hint of joy. But over the next 3 months, Makayla wasn’t eating well and wasn’t gaining enough weight.  Our pediatrician referred us to Dr. Elizabeth Hait, a gastroenterologist at Boston Children’s Hospital. Dr. Hait would change Makayla’s formula multiple times and put her on medication for her acid reflux. Her pediatrician also tested her for a milk allergy, since her brother had one as an infant, but it was negative. It was recommended Makayla have an upper GI to make sure everything was anatomically correct. The technician suggested everything looked good, so we left feeling that Makayla was perfectly normal. But a call from her doctor that afternoon turned our world upside down. Although Makayla’s upper GI was perfectly normal, we were informed that her x-ray revealed she had bilateral hip dysplasia. The next 2 weeks were a whirlwind. I made an immediate appointment with her pediatrician, started doing my own research (what in the world is hip dysplasia?!) and got an appointment with Boston Children’s Orthopedic Center as quickly as possible. In early June of 2014, we had our first appointment with Dr. James Kasser, a pediatric orthopedic surgeon and Surgeon-in-...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Our Patients’ Stories Division of Endocrinology Dr. James Kasser Dr. Travis Matheney hip dysplasia Orthopedic Center Otolaryngology Department Source Type: news

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We examined deidentified patient data from 28,508 unique encounters documented in the Asthma Specialist Tool to Help Manage Asthma and Improve Quality database, obtaining patient-level factors (demographics, asthma characteristics, comorbidities), care setting (primary care physician [PCP] vs specialist physician [allergist or pulmonologist]), and guideline-defined levels of asthma control/severity. Rates of comorbidities were identified by asthma severity and control and by care setting. We calculated odds ratios for asthma control and severity based on each comorbidity.ResultsBaseline demographic data indicated that pati...
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research
We examined de-identified patient data from 28,508 unique encounters documented in the Asthma IQ database, obtaining patient level factors (demographics, asthma characteristics, co-morbidities), care setting (primary care physician [PCP] versus specialist physician [Allergist or Pulmonologist]), and guideline-defined levels of asthma control/severity. Rates of co-morbidities were identified by asthma severity and control and by care setting. We calculated odds ratios (ORs) for asthma control and severity based on each co-morbidity.ResultsBaseline demographic data indicated that patients seen by specialists versus PCPs, wer...
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research
ConclusionIn patients where surgery was performed for non-inflammatory sinus disease, turbinate resection is not correlated with poorer postoperative nasal obstruction, sinonasal function nor sleep quality.
Source: American Journal of Otolaryngology - Category: Endocrinology Source Type: research
Conclusions:The absence of demographic or clinical predictors of OSA supports using general indications for PSG in children with ASD.Citation:Tomkies A, Johnson RF, Shah G, Caraballo M, Evans P, Mitchell RB. Obstructive sleep apnea in children with autism.J Clin Sleep Med. 2019;15(10):1469–1476.
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Source Type: research
It’s hardly news that the gastrointestinal tract is important to human health: It transports food from the mouth to the stomach, converts it into absorbable nutrients and stored energy, and shuttles waste back out of the body. If you don’t properly nourish yourself, you don’t live. It’s that simple. But in recent years, scientists have discovered that the GI system has an even bigger, more complex job than previously appreciated. It’s been linked to numerous aspects of health that have seemingly nothing to do with digestion, from immunity to emotional stress to chronic illnesses, including can...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Research Source Type: news
ConclusionDysfunctional breathing is common in difficult asthma and associated with worse asthma status and unemployment. The independent association with psychological disorders and nasal obstruction highlight an important interaction between comorbid treatable traits in difficult asthma.
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research
Background: Multiple co-morbidities are associated with disease control, healthcare utilization and quality of life in difficult asthma.Aim: To evaluate the prevalence of comorbidities in patients with difficult asthma in the Wessex AsThma CoHort of difficult asthma (WATCH).Methods: Our prospective observation cohort study has enrolled 380 patients with severe asthma. History of co-morbidities is collected at enrolment. Data is presented as percentages and chi squared tests were used to calculate differences between groups.Results: Comorbidity(n)Prevalence (%)Gender Difference(male % vs female %)Age of Onset Difference (ea...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Monitoring Airway Disease Source Type: research
This study is especially thought-provoking, given that more and more people are taking medications with depression or suicidal thoughts as possible side effects. The CDC just released updated data showing a troubling recent rise in suicide rates, and that 54% of those who die from suicide do not have a known mental health disorder, so this is an important public health issue. That said, it is important to note: in this study, people who used these medications were more likely to be widowed and have chronic health problems, both of which are associated with a higher risk of depression. And many (but not all) of these medica...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Anxiety and Depression Drugs and Supplements Health Source Type: blogs
This article reviews this relationship and provides recommendations for management. Keywords: Insomnia, sleep disorder, psychiatric disorder, depression, psychosis, schizophrenia, anxiety disorder Insomnia affects 25 million people in the United States annually and leads to an estimated $100 billion health care burden. Insomnia has also been shown to be a causal factor in other medical and psychiatric disorders, cognitive impairments, accidents, absenteeism, and reduced quality of life.1 The cost of not treating insomnia is more than the cost of treating insomnia.2 Insomnia as a symptom is seen in up to one third of the Un...
Source: Innovations in Clinical Neuroscience - Category: Neuroscience Authors: Tags: Current Issue Review anxiety disorder depression insomnia psychiatric disorder psychosis schizophrenia sleep disorder Source Type: research
We describe the prevalence, impact and treatment effects of these comorbidities in the difficult asthma population, emphasizing gaps in the current literature. We examine the associations between individual comorbidities and highlight the potential for comorbidity clusters to exert combined effects on asthma outcomes. We conclude by outlining a pragmatic clinical approach to assess comorbidities in difficult asthma.
Source: Allergy - Category: Allergy & Immunology Authors: Tags: REVIEW ARTICLE Source Type: research
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