Tag: failure to thrive

5 Rare Syndromes That Parents Should Learn About

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:

  • Children with EDS often score 6 out of 9 on the Breighton scale.
    Children with EDS have hypermobility and often score 6 out of 9 on the Beighton scale. (Photo by Cattalini et al CC by 4.0)

    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

Treating Hard to Control Reflux

Acid reflux is common, especially for newborns and infants.

Many parents are surprised to know that reflux can affect older kids too though. Fortunately, reflux is temporary for most of these kids and can be easily treated.

It can be even easier to treat younger kids, most of whom don’t need any treatment if they are just messy and don’t have true acid reflux disease.

Happy Spitters and Reflux Symptoms

Children who spit up have acid reflux or more specifically gastroesophageal reflux (GER).

Many babies spit up or have reflux.
Many babies spit up or have reflux, but most are just “happy spitters” and don’t need treatment. Photo by Ryan Dickey (CC BY 2.0)

They may not have acid reflux disease though (GERD), with other associated signs and symptoms, such as:

  • refusing to eat
  • recurrent vomiting
  • weight loss or poor weight gain (failure to thrive)
  • irritability or trouble sleeping
  • respiratory symptoms, such as a chronic cough, hoarse voice or cry, or hard to control asthma, etc.
  • Sandifer syndrome – reflux plus head tilting and back arching

Without any of these symptoms, your baby who spits up, even if it is very frequent and it seems like they spit up a large amount each time, is likely what is classically called a “happy spitter.” If they are just messy, they don’t need any treatment and you can wait until they outgrow their reflux.

Remember – “Spit Happens.”

Older children with acid reflux might complain of heartburn, chest pain, or say that they have a sour taste in their mouth (sour burps).

Lifestyle Changes for Reflux

Once you recognize that your child has GERD and needs to be treated, you might start with these lifestyle changes:

  • avoiding milk and dairy products for two to four weeks if you are breastfeeding an infant with GERD
  • changing baby formula to an extensively hydrolyzed protein (Nutramigen, Gerber Extensive HA, Alimentum) or amino acid–based infant formula if your formula fed baby has GERD
  • thickening your baby’s formula (typically about one tablespoon of rice cereal per every one to two ounces of formula) vs switching to a baby formula for reflux (Enfamil AR or Similac Sensitive R.S.)
  • making sure you aren’t overfeeding your baby, including that you don’t re-feed your baby right after they spit up
  • avoiding seated and supine (on his back) positions after feedings, although you shouldn’t put your baby down prone (on his stomach) if he is going to fall asleep (risk factor for SIDS)
  • helping older children with acid reflux lose weight if they are overweight and making sure they don’t smoke or drink alcohol
  • encouraging older children to avoid acid reflux triggers, especially caffeine, chocolate, foods with acid, and spicy foods

When can you expect your infant’s reflux to go away? In most babies, reflux symptoms peak at about 4 months and go away by the time they are 12 to 18 months old. In older children, reflux symptoms generally go away after a few months of appropriate treatment.

Acid Reflux Medicines

If lifestyle changes aren’t working, your child with reflux likely needs medicine to treat his reflux.

These acid reflux medications include:

  • antacids – may be okay in older children with very rare symptoms, but not for routine use
  • histamine-2 receptor antagonists (H2RAs) – such as Zantac (ranitidine) – works quickly, but may stop working over time (tachyphylaxis)
  • proton pump inhibitors (PPIs) – such as Prevacid (over-the-counter for adults) and Nexium (Nexium packets are FDA approved for infants) – considered more potent and superior to H2RAs but may take up to four days to start working
  • prokinetic agents – rarely used because of side-effects

In general, if your child’s symptoms improve or go away within two weeks of taking an acid reflux medication, then you should likely continue it for at least two to three months.

Treating Hard to Control Reflux

What do you do when lifestyle changes and reflux medicines don’t work or symptoms return after you stop your child’s reflux medicine?

First, make sure you are giving the right medicine, the right dosage of medicine, and are giving it at the right time, keeping in mind that PPIs should be giving 30 minutes before a meal.

Next, consider if there are any other lifestyle changes that you can try. For example, you might encourage your older child with persistent reflux to eat smaller meals more frequently, avoid a bedtime snack, and you may even elevate the head of his bed by about 30 degrees.

Lastly, you might make sure that your child really does have reflux.

Just because your baby is fussy and wakes up a lot at night, it doesn’t automatically mean that he has reflux. It could instead be colic, or be related to a food intolerance or allergy, with breastfeeding mothers needing to go on a more restrictive diet or infants drinking a hydrolyzed formula might need to switch to an elemental formula (Elecare, Neocate, or PurAmino).

Older kids with difficulty swallowing (dysphagia), which is often blamed on acid reflux, might have post-nasal drip caused by allergies or a sinus infection, etc.

And even if truly spitting up, instead of GERD, a child might have any number of other conditions instead of GERD, from an intestinal obstruction to a metabolic disorder.

It is usually at this point, when classic acid reflux treatments aren’t working, that a referral to a pediatric gastroenterologist would be a good idea.

What To Know About Acid Reflux

Acid reflux in kids is usually temporary and can often be controlled with lifestyle changes and medications, but unfortunately, acid reflux symptoms are not always caused by reflux, leading to some treatment failures.

For More Information on Acid Reflux