I’ve talked about classic and uncommon diseases that parents should learn about before. From acanthosis nigricans to volvulus, they are conditions that are fairly common. Or at least not rare.
There are another group of syndromes that it can be good to be aware of, not necessarily because you will ever know someone that is affected by them, but rather because they are so hard to diagnosis, increased awareness is important.
5 Rare Syndromes That Parents Should Learn About
What are these rare syndromes? They include:
- Ehlers-Danlos syndromes – now includes thirteen subtypes of connective tissue disorders, at least one of which can cause infants to have repeated, unexplained fractures that can be confused with child abuse
- Mitochondrial genetic disorders or mito – genetic diseases that can affect multiple organ systems in the body and can cause a variety of signs and symptoms, from developmental delays and muscle weakness to seizures. The type of mutation and whether it is in mitochondrial DNA or nuclear DNA determines the type of mito disorder, of which there are many, including Alpers syndrome, Barth syndrome, Co-enzyme Q10 deficiency, Kearns–Sayre syndrome, Leigh syndrome, MELAS, and Pearson’s syndrome, etc.
- PANDAS – Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections is characterized by OCD and/or tics that appear or suddenly worsen after a strep infection. With the OCD, these young kids might also have anxiety, including separation anxiety, depression, irritability, regression in their behavior, sleep problems, or school problems, etc. Although it has since been renamed PANS, Pediatric Acute-onset Neuropsychiatric Syndrome, you should still have the “temporal association between Group A streptococcal infection and symptom onset/exacerbations” to have PANS.
- POTS – teens with Postural Orthostatic Tachycardia Syndrome have dizziness, fatigue, headaches, nausea, difficulty concentrating and other disabling symptoms related to alterations or dysfunction in the autonomic nervous system (dysautonomia). POTS is actually fairly common. What’s rare is for parents and pediatricians to know about POTS, and to therefore get kids diagnosed.
- Vocal cord dysfunction – often misdiagnosed as asthma, especially exercise induced asthma, and other things, kids with vocal cord dysfunction often have episodes of repeated shortness of breath, chest tightness, wheezing, and coughing – just like asthma. They don’t improve though, even as more asthma medicines are added, which should be a red flag that these kids don’t have asthma and could have vocal cord dysfunction instead.
Have you ever heard of these disorders? No one would be surprised if you hadn’t.
Although a few are indeed rare, even when children do have them, it often takes years and years and visits to many different doctors before many of these kids finally get a diagnosis. That can mean years and years of unnecessary treatments and more importantly, the missed opportunity to get the proper treatment and hopefully relief for your child’s symptoms.
Why don’t all doctors learn more about these conditions so that they can be sure to recognize them as early as possible?
It’s not that simple. For every teen you every see with POTS, there will likely be dozens with vasovagal syncope or orthostatic hypotension. Same goes with the Ehlers-Danlos syndromes, which can sometimes be confused with the more common hypermobility spectrum disorders, which might just cause kids to have some extra aches and pains.
Tips for Getting a Diagnosis for These Rare Syndromes
How can you get a quick, or relatively quick diagnosis if your child has one of these syndromes? A little luck and a lot of increased awareness. This can also help avoid getting diagnosed when your child probably shouldn’t.
“Vocal cord dysfunction is an asthma mimic. Diagnosis of this condition requires a high index of suspicion if unnecessary treatments are to be avoided.”
Varney et al on The successful treatment of vocal cord dysfunction with low-dose amitriptyline
It can especially help to understand that:
you might suspect that your child has one of the Ehlers-Danlos syndromes if they seem to be “double jointed,” often complain of growing pains, have a lot of sport’s injuries, poor wound healing, and/or skin that is hyper-extensible.
- mitochondrial disorders are rare and children often don’t have classic signs or known genetic defects that make getting a diagnosis easier. There are checklists of signs, symptoms, and physical exam findings to look for, testing that can be done, and family history to look for, that may help if you suspect that your child has a mito disorder. Why would you suspect that your child has a mito disorder? They might have unexplained low muscle tone (hypotonia), muscle weakness, poor growth (failure to thrive), seizures, and lactic acidosis.
- there aren’t always easy blood tests that help to make these diagnoses. Even when there are, like in the case of PANS/PANDAS, an elevated strep titer, some health care providers will make a diagnosis with a titer that isn’t really elevated or isn’t rising. Or in a child that has had no evidence of a strep infection. You should suspect PANDAS when a younger child (before puberty) suddenly develops (abrupt onset) obsessions, compulsions, and/or tics.
- since many teens have issues with dizziness and fatigue, to make a diagnosis of POTS, they should have a real tilt test which demonstrates that their heart rate goes up at least 30 to 40 beats per minute within 10 minutes of going from a supine (lying down) to a standing position. The problem is that many health care providers do the tilt testing improperly, getting heart rate and blood pressure measurements at the wrong time. The easiest way to do a tilt test (active stand test) is to have the child lie down for a good 10 minutes, and check their heart rate and blood pressure. Then have them stand up (being careful they don’t faint) and check them again immediately, noting the differences.
- although vocal cord dysfunction can be triggered by the same things and have the same symptoms as asthma, the treatments are greatly different. Instead of asthma inhalers, kids with vocal cord dysfunction learn breathing techniques and might get voice therapy. Other clues that a child might have vocal cord dysfunction include normal pulmonary function tests, that they have stridor, instead of wheezing, and that episodes come and go more quickly than a typical asthma attack.
With a prevalence of about 1 in 5,000 people, the average pediatrician might never see a child with EDS or a mito disorder.
Pediatricians are much more likely to see kids with PANDAS, POTS, and vocal cord dysfunction. More awareness of all of these syndromes can help make sure that kids get a quick diagnosis and proper treatments.
A referral to a pediatric specialist or team of specialists can also be helpful if you suspect that your child has any kind of rare or unexplained syndrome.
What to Know About Getting a Diagnosis for These Rare Syndromes
Your pediatrician can help if you suspect that your child has any of these difficult to diagnose conditions.
More on Getting a Diagnosis for These Rare Syndromes
- The New Medical Kidnapping Panic
- EDS Diagnostics 2017
- Assessing Joint Hypermobility
- When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children
- Mitochondrial genetic disorders
- Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
- Mitochondrial Medicine Society Toolkit
- Mitochondrial disease: a practical approach for primary care physicians.
- Presentation and Diagnosis of Mitochondrial Disorders in Children
- Mitochondrial Diseases
- Pathogenesis and Individualized Treatment for Postural Tachycardia Syndrome in Children.
- PANDAS—Questions and Answers
- From Research Subgroup to Clinical Syndrome: Modifying the PANDAS Criteria to Describe PANS (Pediatric Acute-onset Neuropsychiatric Syndrome)
- Diagnosing Postural Orthostatic Tachycardia Syndrome
- Living with POTS
- Understanding Vocal Cord Dysfunction
- Diagnostic criteria for the classification of vocal cord dysfunction.
- Study – The successful treatment of vocal cord dysfunction with low-dose amitriptyline
- Syndromes Without A Name USA
- When Seeking Treatment For A Child Crosses the Line: Medical Child Abuse Vs. Rare Diseases (Part Two)
- The Intersection of Medical Child Abuse and Medical Complexity
- When parents and physicians disagree: What is the ethical pathway?
- Mitochondrial genetic disorders
- Index to “Fad” Diagnoses
- Deaths and complications due to treating the fake disease known as “chronic Lyme disease”
- Fake Diagnosis Fatigue
- When Should You See a Genetic Counselor?