Tag: asthma

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

What to Do About QVAR Being Redesigned

Do your kids have asthma?

What medicines do they take?

Asthma Medications

Kids with asthma basically get treated with five types of medications, including:

  • inhaled short acting bronchodilators – albuterol nebulizer solution, levalbuterol nebulizer and HFA (Xopenex), ProAir HFA, ProAir Respiclick, Proventil HFA, Ventolin HFA
  • oral steroids – prednisolone, prednisone
  • inhaled steroids -Alvesco, Asmanex Twisthaler, Flovent HFA or Diskus, Pulmicort Respules, Pulmicort Flexhaler, QVAR RediHaler
  • inhaled long acting bronchodilators
  • montelukast (Singulair) – a leukotriene receptor antagonist that can help prevent asthma and allergy symptoms

Two of these, inhaled steroids and inhaled long acting bronchodilators, which are typically used in combination products (Advair, AirDuo, Dulera, and Symbicort), are commonly used every day to prevent asthma symptoms and asthma attacks.

How Kids Take Asthma Medications

Asthma is one of those conditions that should be a lot easier to control than it usually is.

Although many preventative medications are available, they typically have to be used every day and the medications have to be given with a nebulizer (takes time) or an inhaler (requires good technique).

A spacer allows younger kids to use asthma inhalers.
A spacer allows younger kids to use asthma inhalers. Photo by Vincent Iannelli, MD

Fortunately, younger kids who can’t yet learn to use an inhaler can get around this by using their inhaler with a spacer or a spacer with a mask.

How do spacers work with your child’s asthma inhaler?

The medicine from the inhaler goes in the spacer and then the child can just breath it in, not having to coordinate, or time when they breath, with when the medicine actually comes out of the inhaler.

What’s the problem?

More and more drug companies are switching to dry powder inhalers. These are great for older kids, who can easily master the necessary technique – a quick, deep breath. But they are still too hard to use for younger kids and can’t be used with a spacer.

“In a systematic review, the mean percentages of patients who used their inhalers without mistakes were 63% for metered dose inhalers (MDIs); 75% for breath-actuated MDIs; and 65% for dry powder inhalers (DPIs).”

Haughney et al. on Choosing inhaler devices for people with asthma: Current knowledge and outstanding research needs

Others are switching to breath-actuated aerosol inhalers that are also too difficult for younger kids to use (they must close their lips around the mouth piece and inhale deeply) and also can’t be used with a spacer.

The Redesigned QVAR Inhaler

While some companies still make two versions of their inhalers, a traditional metered dose inhaler (MDI) and a dry powder inhaler (DPI) or breath-actuated device, more and more have just one option.

QVAR, which has long had the popular inhaled steroid QVAR HFA in 40 and 80 mcg strengths, has now switched to a breath-actuated device.

While the availability of the QVAR RediHaler is good news, as some experts think that breath-actuated devices are better than coordinated devices, the bad news is that they dropped their older QVAR inhalers which could be used with a spacer.

Be careful that your pharmacy doesn’t switch your child from QVAR to QVAR RediHaler unless you think it is appropriate.

So what are your options if your child needs an inhaled steroid?

  • Is your child old enough to learn how to use the QVAR RediHaler or a DPI inhaler, like Asmanex Twisthaler, Flovent Diskus, or Pulmicort Flexhaler? Online videos and demonstration devices can help teach your child.
  • Is your child’s asthma under poor control, so that QVAR wasn’t a good option anymore anyway, in which case your child might need a step up to a combination inhaler that can be used with a spacer, such as Advair, AirDuo, Dulera, or Symbicort?
  • Is your child’s asthma under such good control that your pediatrician might consider a step down off daily inhaled steroid therapy, so that you can stop using QVAR?
  • Do you have a nebulizer and so can use budesonide (Pulmicort) respules instead?

Although the fact that it has “a spacer-free design” is being used as a selling point for the new QVAR RediHaler, that doesn’t help those kids who still need to use a spacer. For them, the easiest option is to simply switch to another brand of steroid inhaler that can still be used with a spacer. These include Flovent HFA (44, 110, and 220mcg) and Alvesco (80 and 160mcg). Both are usually more expensive than QVAR though, which is what made QVAR popular. These other inhalers also might not be covered by your insurance plan.

The Future of Asthma Inhalers

Now that the patents on HFA inhalers are expiring, instead of making inexpensive HFA inhalers, to keep drug prices high, drug companies are developing new delivery devices that they can patent. What’s surprising, is that QVAR is made by Teva, which traditionally makes “lower cost” generic medications.

“Daddy, why can’t they put my asthma medicine in a spray-can like they do hair spray?”

Stein et al. on The History of Therapeutic Aerosols: A Chronological Review

In 1955, a young girl asked her father a simple question and a few months later, the first MDI for asthma was developed.

Can asking a simple question about asthma inhalers get us such quick results today?

Let’s see…

AirDuo-RespiclickWhy isn’t someone making inexpensive asthma inhalers?

Teva did recently get approval for their AirDuo brand and generic inhaler.

A combination of fluticasone propionate and salmeterol, AirDuo is similar to Advair. It is different in that the three strengths of AirDuo (55/14, 113/14 and 232/14 mcg) don’t exactly match the three strengths of Advair (45/21, 115/21 and 230/21 mcg), but at about 25% of the cost, few folks likely care. They might care that AirDuo is only available in a RespiClick version (a dry powder inhaler), and so can’t be used with a spacer.

Ironically, Teva’s AirDuo generic inhaler, a combination inhaler, is less much expensive than their QVAR inhaler, which only contains a steroid.

We will hopefully see more generic versions of more inhalers, including more that stay in a traditional non-breath-actuated, non-DPI form. And more asthma inhalers that are much less expensive.

What to Know About QVAR Being Redesigned

The redesign of QVAR and other asthma inhalers to breath actuated and dry powder versions can mean that they can’t be used with spacers and so can’t be used by infants, toddlers, preschoolers, and younger school aged children with asthma.

More on QVAR HFA Being Redesigned

Treating Hard To Control Asthma

Does your child have asthma?

Are his asthma symptoms easy to control or are they getting in the way of doing routine things, like sleeping through the night or playing outside with friends?

What Triggers Your Child’s Asthma?

As with many other childhood conditions, it is often better to avoid asthma flareups instead of trying to treat them.

That doesn’t necessarily mean it is easy though.

Still, you might try to avoid common asthma triggers, such as:

  • allergies – dust mites, pet dander, mold, pollen, etc.
  • exercise
  • infections
  • smoke
  • pollution
  • weather changes

Keep track of your child’s symptoms to see if you can identify any triggers.

Asthma Treatments for Kids

The most common treatment for asthma symptoms are the quick-relief medications, including albuterol (ProAir, Ventolin, Proventil) and levalbuterol (Xopenex). Either with a nebulizer, inhaler with a spacer, or inhaler alone, they can help when your child is coughing and wheezing.

If your child has severe or frequent asthma symptoms or attacks, the next treatment step is to use a long-term control medication, starting with an inhaled steroid (Alvesco, Asmanex, Flovent, Pulmicort, Qvar) and moving to a combined inhaled steroid and long acting beta-agonist (Advair, Dulera, Symbicort) if necessary.

Other asthma treatments can include:

  • oral steroids – often used short term for asthma flares with quick-relief medications
  • leukotriene modifiers – Singulair (montelukast) is a once-a-day pill that can be used to prevent both allergies and asthma in some kids

An asthma action plan can help make sure you know how and when to use your child’s asthma medications.

Treating Hard To Control Asthma

What do you do if your child’s asthma medicines aren’t working?

If your child continues to have regular asthma symptoms or attacks, ask yourself these questions and share the answers with your pediatrician:

  • Is your child really using his inhaler? Non-compliance is the most common reason for kids to have poorly controlled asthma. Remember, long-term control medications are used every day, even when your child doesn’t have any asthma symptoms. They prevent asthma attacks and asthma symptoms that can be treated with the as need use of your child’s quick-relief medications.
  • Is your child using his inhaler correctly? If not, his asthma medicine might not be making it to his lungs where it needs to go to work.
  • Is your child with exercise-induced asthma using his quick-relief inhaler before exercise?
  • Does your child need a step-up in therapy? Long-term control medications are available in a variety of strengths and your child may need a higher dosage if she is still having asthma symptoms. Or she may need to move from an inhaled steroid to a combined inhaled steroid and long acting beta-agonist inhaler.
  • Would allergy testing help you identify your child’s triggers?
  • Does your child have acid reflux?
  • Could stress be triggering your child’s asthma symptoms?
  • Does your child really have asthma? Both vocal cord dysfunction and exercise-induced laryngeal obstruction are asthma mimics that can be misdiagnosed as asthma.

A pediatric allergist and/or a pediatric pulmonologist can help your child with hard to control asthma.

What To Know About Treating Hard To Control Asthma

Asthma can be a life-threatening condition, so be sure to seek extra help if your child has difficult to control symptoms, especially if you have already tried many of these classic asthma treatments.

For More Information About Treating Hard To Control Asthma

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