Constitutional Growth Delay / Idiopathic Short Stature – Our Experience

E was born at the 50% centile and followed the 50% growth curve for her first year.  At that point, she started slowly dropping in her growth velocity.  By 18-24 months she had dropped to the 5th percentile; she continued dropping until she fell below the 1% line.  Since age 3, E has tracked steadily under the 1% for height.  Her weight has varied from about 5-20%.

When your child drops more than 2 curve lines on the growth charts, they are flagged for “failure to thrive”.  At this point, we were referred to feeding clinics and nutritionist consultations.

At the feeding clinic, an occupational therapist, physical therapist, nutritionist, and psychologist evaluated E while she ate a typical meal.  She was eating independently (since 6 months old – we followed Baby Led Weaning), and they were happy with her interest in food and physical ability to feed herself, chew, and swallow.  At that point the nutritionist gave us suggestions to increase her caloric intake.

From our post on allergies, you will see how that didn’t go so well for us.

At this point, E had some bloodwork done to rule out nutritional deficiencies.  She also had a left hand x-ray to determine bone age.  Both came back within normal limits.

E’s genetic height potential (which you can calculate for your child here) is 5’1″, but her growth curves lead her to being approximately 4’7″.  Concerned about this, I asked for a referral to a pediatric endocrinologist.

In the meantime, E’s x-ray for bone age was repeated, along with bloodwork to rule out celiac disease / gluten intolerance (which, if untreated, can cause growth delay).   Both came back as normal.

We had our consultation with the endocrinologist, who was very helpful.  She suggested that reading bone age is a bit of an “art form”, and that she reads E’s x-rays as being delayed by about 1-1.5 years (1 step on the bone age scale).  The term for this is Constitutional Growth Delay.  The logical explanation for this would be from her malnutrition when we were feeding her excessive dairy calories, which she wasn’t able to digest.  It had taken a good 1.5-2 years to diagnose her dairy, and subsequent soy and egg, allergies.

The endocrinologist explained that if E’s growth was plotted as if she was 1.5 years younger than she is, it neatly follows the 50% curve again.  She is following E yearly, and we will be able to know more the closer she approaches puberty.  Apparently, if this is what she has, she will eventually reach her growth potential (and just be a “late bloomer”).  Otherwise, she may need daily Growth Hormone injections.  So for now, we are just waiting and watching.

UPDATE 2016:  E had another x-ray for bone age, which came back as normal.  This indicates that she does not, in fact, have constitutional growth delay.  She may be on the borderline normal (which is +/- 5″ of calculated genetic potential) or could have idiopathic short stature.  I did ask for her to be tested for Turner Syndrome, as that can also cause short stature and be undetected if it is a mild case.  Her karyotype came back normal.  The endocrinologist is willing to treat her with growth hormone anyways, but estimates that she would only gain 1-2″ total.  It would also be unfunded, so we would have to pay out of pocket approximately $25,000 per year until puberty ended.  For cost/benefit we just can’t justify this!  I did discuss trying it for only one year, as most catch-up growth occurs in the first year.  However, if growth hormone is discontinued before growth potential ends, often what happens is “catch-down growth” – meaning, growth will slow until she is back on the curve her body was trying to grow on.  We will continue to watch and wait for now, and consider 1 year of growth hormone near the end of puberty (when she is 13-14) depending how things are looking at that time.

Wikipedia describes constitutional growth delay as:

Constitutional growth delay (CGD) is a term describing a temporary delay in the skeletal growth and thus height of a child with no other physical abnormalities causing the delay. Short stature may be the result of a growth pattern inherited from a parent (familial) or occur for no apparent reason (idiopathic). Typically at some point during childhood, growth slows down, eventually resuming at a normal rate. CGD is the most common cause of short stature and delayed puberty.

Children with constitutional growth delay (CGD), the most common cause of short stature and pubertal delay in males, typically have slowed linear growth within the first 3 years of life. In this variant of normal growth, linear growth velocity and weight gain slows beginning as young as age 3–6 months, resulting in downward crossing of growth percentiles, which often continues until age 2–3 years. At that time, growth resumes at a normal rate, and these children grow either along the lower growth percentiles or beneath the curve but parallel to it for the remainder of the prepubertal years.

At the expected time of puberty, the height of children with CGD begins to drift further from the growth curve because of delay in the onset of the pubertal growth spurt. Catch-up growth, onset of puberty, and pubertal growth spurt occur later than average, resulting in normal adult stature and sexual development. Although CGD is a variant of normal growth rather than a disorder, delays in growth and sexual development may contribute to psychological difficulties, warranting treatment for some individuals. Recent studies have suggested that referral bias is largely responsible for the impression that normal short stature per se is a cause of psychosocial problems; nonreferred children with short stature do not differ from those with more normal stature in school performance or socialization.

Individuals with constitutional growth delay (CGD) are usually of normal size at birth. Deceleration in both height and weight velocity typically occurs within the first 3–6 months of life. This shift downward is similar to that observed in infants experiencing normal lag-down growth but tends to be more severe and prolonged. Individual variation is substantial; however, most children resume a normal growth velocity by age 2–3 years. During childhood, these individuals grow along or parallel to the lower percentiles of the growth curve.

Skeletal age, which is estimated from radiographic studies of the left hand and wrist, is usually delayed (typically 2-4 y by late childhood) and is most consistent with the child’s height age (age for which a child’s height is at the 50th percentile) rather than the child’s chronologic age. Because the timing of the onset of puberty, pubertal growth spurt, and epiphyseal fusion are determined by a child’s skeletal age (biologic age), children with CGD are often referred to as “late bloomers.”

At the usual age for puberty, these children continue to grow at a prepubertal rate appropriate for their biologic stage of development. Natural slowing of linear growth just before onset of puberty may be exaggerated, emphasizing the difference in size from peers who are accelerating in growth. The timing of the pubertal growth spurt is delayed, and the spurt may be prolonged with a lower peak height velocity. In patients with both CGD and familial short stature, the degree of growth retardation may appear more severe, but the adult height is appropriate for the genetic background.

I strongly believe that in this life, nothing happens by accident or coincidence – things aren’t determined by fate or luck (good or bad).  I believe there is an overarching story – a beautiful picture of love, loss, and redemption – and that there is Someone who cares and is in control.  You are already a part of this story, whether you know or believe it or not.  While the end of the story has already been written, your own part lays open before you for you to choose your ultimate destiny.  Perhaps our coinciding struggles have been finely orchestrated to lead you to this one moment: The Bridge to God.

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“Praise be to the God and Father of our Lord Jesus Christ. The Father of compassion, the God of all comfort, who comforts us in all our troubles so that we can comfort those in any trouble with the comfort we ourselves have received from God. For just as the sufferings of Christ flow into our lives, so also should the comfort of Christ overflow.” (2 Corinthians 1:3-5)

 

Blood Tests in Children – How to Prepare

As part of E’s stroke workup, and for her allergies and growth, she has needed to have blood draws done.  Here are some suggestions that have worked for us to minimize her discomfort and fear:

BEFORE the Procedure:

  • Talk about it beforehand, but not TOO far ahead.  One or two days before the procedure, let your child know what to expect –
    • Before the needle, a big rubber band that feels like a balloon will be wrapped around your child’s arm. Tell her that the band will feel tight like someone is squeezing her arm.
    • The lab technician will clean a small patch of skin on your child’s arm and this will feel cold.
    • The needle will be put into the arm and blood will go into the needle. Your child will feel a pinch or prick that can sting or hurt a little, or she may feel nothing at all.
    • Once the blood is taken, the needle comes out and a small bandage is put on the spot where the needle was.
  • Let your child practice taking blood from you and from her stuffies – guide her in the steps to follow.  A medical kit is a great tool to have!  If you go to a lab beforehand and explain, they may be willing to give you a syringe and arm elastic.
  • Tell your child why she is having blood taken
  • Let your child know that it is okay not to like what is going to happen.  Let her know that most people don’t like to have blood taken, but that it is necessary to check for ______.
  • Give your child some control where possible – ask her if she would like to bring a special toy, or what she would like to do afterwards to celebrate being done.
  • Let her know that it is very important to stay still so that it will hurt the least and won’t have to be redone.

The DAY OF the Procedure:

  • Hydrate!  Water, juice, soup, popsicles – anything!  The more liquids in your child, the plumper the veins; the plumper the veins, the easier they are to access.  We forgot this one time and it took them a lot of digging to get my daughter’s blood, which hurt her.
  • Apply an Emla patch or cream to the inner elbow 1 hour prior, following package directions.  This will numb the area, and she will only feel the needle if they have to dig for the vein – if you don’t follow the HYDRATE suggestion above….  Note that we tried Emla when E was 9 months old, and then they couldn’t find her veins.  So I would only recommend it for older children, on whom you can see their inner elbow veins quite nicely. Emla makes the veins go deeper, or some such thing.  Emla can be found at most pharmacies, and doesn’t require an Rx in Canada.  HIGHLY recommend the Emla for toddler+.

blood-draw-hospital

RIGHT BEFORE the Procedure:

  • Give her some sugar.  Something fast acting, like orange juice or chewy candies.  Studies have shown that elevated blood sugar can dull pain somewhat.  When E was a baby, I dipped her soother in water and then powdered sugar before her immunizations.  When she was older, I used skittles.
  • Remove the EMLA patch, and wipe clean with a wet washcloth.
  • Gently heat the area; this brings the veins up to the surface and enlarges them.  I heated a warm bag in the microwave at home, and brought it along wrapped in tea towels.  After washing off the Emla, I put the warm bag on her inner elbow for a few minutes.  Test it on your inner wrist first, remember that her arm is numb and you don’t want to burn her!!!
  • Butterfly IV lines (as shown above) hurt much less than a needle as they have a smaller diameter, and you don’t feel it move during changing of tubes; ask your technician to use one of these if possible.

DURING the Procedure:

Blood Test

  • Hold your child firmly, but not tightly, cooperating with the positioning the technician needs.  Block your child’s eyes from watching, either with your hand or head.
  • Distract your child if possible – a toddler may be distracted by a light-up or noisemaker; an older child may be distracted by an iPad or your phone.
  • Celebrate afterwards, even if it was unsuccessful, letting your child know how brave she was and how proud she must be of herself!  (This allows her to internalize her bravery, instead of you being proud of her which is external)

Many of these suggestions can also be used for routine childhood immunizations!  Although, the EMLA patches will be much more difficult to place accurately!  (We tried Emla for their 5 yr vaccinations and it didn’t seem to help at all)

I strongly believe that in this life, nothing happens by accident or coincidence – things aren’t determined by fate or luck (good or bad).  I believe there is an overarching story – a beautiful picture of love, loss, and redemption – and that there is Someone who cares and is in control.  You are already a part of this story, whether you know or believe it or not.  While the end of the story has already been written, your own part lays open before you for you to choose your ultimate destiny.  Perhaps our coinciding struggles have been finely orchestrated to lead you to this one moment: The Bridge to God.

download

“Praise be to the God and Father of our Lord Jesus Christ. The Father of compassion, the God of all comfort, who comforts us in all our troubles so that we can comfort those in any trouble with the comfort we ourselves have received from God. For just as the sufferings of Christ flow into our lives, so also should the comfort of Christ overflow.” (2 Corinthians 1:3-5)

Sleep Challenges – Delayed Sleep Onset, Frequent Night Wakings, Insomnia…

There are a few basic human needs – food, water, air, clothing/shelter, and sleep.  Why sleep seems to elude so many…from the young to the old…is puzzling!  Difficulty falling asleep, difficulty staying asleep, and irregular sleep patterns are common in children with developmental disabilities.

Sleep patterns are affected by:

  • Nature (circadian rhythms, hormonal influences)
  • Environment (sleep associations and habits)

E struggled with falling asleep and staying asleep ever since she was born.  She took 2-3 hours to fall asleep.  And once asleep, she never slept more than 1-2 hours at a time; in the daytime her naps were 20 minutes long 1-3x a day (until she gave up napping at 2 yrs old).  She would waken and call me 6-10x a night until she was 2, then 4-8x a night until about age 3, and continues at 1-2x a night age 6+ (she has slept through the night only a handful of times).

I realize this is not an uncommon complaint with babies and toddlers, hence the plethora of sleep training methods and books.  My second child (no developmental delays) isn’t a much better sleeper.  And after years of being woken repeatedly throughout the night, I have difficulty falling – and staying – asleep.

So, here are my thoughts based on our experience:

  • Rule out any underlying medical condition.  Get a check-up, including bloodwork if necessary.  (see my post on bloodwork for little ones)
  • Follow a Sleep Hygiene schedule and stick to it religiously
    • Maintain a regular wake and sleep pattern seven days a week – get up and go to bed at the same time each day
    • Avoid daytime naps (adults), or make sure there is at least 4 hours between the end of a nap and bedtime for babies/toddlers/kids.  This might involve waking them up (unless they are sick).  Good luck with that…
    • Get exposure to light first thing in the morning – open the blinds, turn on the lights.  This helps your brain establish the wake part of your sleep-wake cycle.
    • Dim the lights for the hour before bed if possible.  This includes NO SCREEN (TV, tablet, phone) unless it is a specific reading screen.  This alerts your brain to release melatonin – the sleep hormone.
    • Avoid caffeine after lunch (adults); don’t give caffeine to kids (pop, dark chocolate)
    • Avoid nicotine and alcohol after supper (adults)(alcohol disrupts second stage sleep)
    • Exercise during the day anytime before supper; regular exercise can promote healthy sleep patterns
    • Don’t eat too much before bedtime
    • Establish a relaxing bedtime routine.  Bath (a warm bath followed by a drop in body temperature when you get out helps your body think it is time to sleep), stories, one last drink and potty trip.  Don’t rush this routine – relaxing takes time.  Allow your child to talk about his/her day.  We love Cloud B’s Tranquil Turtle to ease the transition between story time and sleep time.
    • Ensure the sleep environment is relaxing.  It should be very dark (blackout blinds); if you use a nightlight, it should be very very dim (try putting a sock or electrical tape over it).
    • Consider something for white noise (we use a cheap fan pointed at the wall on lowest setting). Cloud B makes a Sleep Sheep; there are other baby white noise machines available.
    • Essential oils might be a part of your routine to signal sleep – lavender and roman chamomile are safe to use with babies and toddlers.

The book I recommend for baby/toddler sleep issues is Elizabeth Pantley’s No Cry Sleep Solution.  She has one for older children as well.  Note that I don’t recommend letting babies or children of any age “cry-it-out” for a number of reasons that are supported by the scientific literature (see here, here, here).

sleep_rest

After trying all this, you still may struggle with sleep.  We gave E a low dose of melatonin (like the liquid one found here) for a year.  Give the lowest dose possible that is effective.  Note that melatonin will only help with initial falling asleep, and not staying asleep.  There are extended release formulas, but your child has to be able to swallow a pill whole to take them.  Talk to your child’s doctor before trying melatonin, as it is a hormone and may cause problems down the road (such as puberty issues, hormonal dependency, sleep cycle issues).

I had read at the time that melatonin will only work if there is a melatonin deficiency.  I know that it worked very well for E, and didn’t do anything for me.  Following sleep hygiene as above will stimulate your brain to produce more melatonin.

For very infrequent nights when we *had* to get sleep…note that Benadryl and Gravol are approved to give to children age 2+ and both have drowsiness as a side effect.

E’s sleep cycles did regulate at around age 4, even though she continues to have night wakings.

For myself, zopiclone does the trick as long as I don’t take it regularly (my body habituates to it VERY quickly).   There are several anti-depressants that can cause drowsiness, but they have side effects.

Sleep continues to be an issue at our house, but consistent, good sleep hygiene has helped a lot.

I strongly believe that in this life, nothing happens by accident or coincidence – things aren’t determined by fate or luck (good or bad).  I believe there is an overarching story – a beautiful picture of love, loss, and redemption – and that there is Someone who cares and is in control.  You are already a part of this story, whether you know or believe it or not.  While the end of the story has already been written, your own part lays open before you for you to choose your ultimate destiny.  Perhaps our coinciding struggles have been finely orchestrated to lead you to this one moment: The Bridge to God.

download

“Praise be to the God and Father of our Lord Jesus Christ. The Father of compassion, the God of all comfort, who comforts us in all our troubles so that we can comfort those in any trouble with the comfort we ourselves have received from God. For just as the sufferings of Christ flow into our lives, so also should the comfort of Christ overflow.” (2 Corinthians 1:3-5)

Recurrent C-Difficile: A Tenacious Germ

This post isn’t related to pediatric stroke, but to other medical complications we have gone through!  Specifically, recurrent clostridium difficile (C-diff) infection.

C. difficile is a bacteria that can asymptomatically reside in anyone’s GI tract.  It generally doesn’t cause any problems as long as your normal bacterial flora keeps it in check.  It is extremely easy to “catch” from medical facilities (long-term care, hospitals) as it forms spores that are notoriously difficult to kill.  Trouble arises if it is lurking in your bowels when you take broad-spectrum antibiotics for some other unrelated infection.

There are only 2 common antibiotics that effectively treat C. difficile: Metronidazole and Vancomycin.  Metronidazole is cheap, but affects your body systemically (doesn’t just stay in your guts).  Vancomycin is horrendously expensive, but stays in your GI tract if taken orally (doesn’t go into your bloodstream, doesn’t have side effects).  There are potential other antibiotics listed here (which weren’t available to me).

I was prescribed broad spectrum antibiotics (Cephalexin) for a mastitis infection the week after one of my children was born.  Since it had been a 5-day hospital stay, I unfortunately likely acquired C.diff at this time (which had been asymptomatic and controlled by my normal flora).  With my normal flora wiped out, I began to experience antibiotic-associated diarrhea a few days into treatment – the C. diff (unaffected by cephalexin) began to flourish.  After a trip to the ER, some hydration and a fecal test, I was prescribed oral vancomycin since I was breastfeeding (metronidazole passes into breastmilk).

How do you know it’s C.diff?  One of the symptoms of C.diff is a “psuedomembrane” (pus) of mucus, dead cells, and bacterial toxins.  It comes out in your stool looking just like this…

109_ch17

After my vancomycin course was finished, the C.diff recurred within a few weeks.

I was started on another course of vancomycin.  The C.diff recurred DURING my course of antibiotics this time.

Since there are no infectious disease specialists where I live, I googled recurrent C.diff infections and found a taper-pulsed dose regimen that I convinced the ER doctor to prescribe for me…  Something like the one in the chart found here; published paper about it here.

During my vancomycin taper-pulse dose regimen, I also took the probiotic (a friendly yeast) S. boulardii, which has been shown to be effective specifically against C.diff.  (See papers here and here).  (It is available at local pharmacies if you phone around.)  However, you don’t want the vancomycin to kill the S. boulardii, so you have to space it out between the antibiotic doses (but as a yeast I am not sure it would be killed?  I spaced it out anyways).

I.E.   6:00 Vancomycin

9:00 S.boulardii

12:00 Vancomycin

3:00 S. boulardii

(etc.)

This was exhausting to follow around the clock with a newborn!

I ended up recurring again, during the lower-dose taper while I was on the vancomycin.  At this point I was desperate… And found fecal transplants for recurrent C.diff through google searching.  (Note they are currently working on generic fecal transplants, nicknamed RePOOPulate – produced by a RoboGut – no word of a lie.)

dr_emma_allenvercoe_and_robogutfood2.jpeg.size.xxlarge.letterbox

I was once again prescribed 2 days of high dose Vancomycin, while my family bundled up and traveled to meet with a doctor (I’m not even sure what his specialty is – GI or infectious diseases?) who agreed to perform a fecal transplant for me.  Likewise, my sister bundled up and traveled to meet us with her family, as she agreed to be my donor (they required a close blood relative with no known communicable diseases).

On day 3, I had the fecal transplant my sister lovingly donated for me that morning with the help of some strong coffee….

Yes, you read that right.  When you’re desperate and think you are going to die from septic shock and leave your newborn behind, you will do anything for a cure.

I thank the Good Lord that the doctor I found was trialing a new method of fecal transplant which involved ingesting “poop pills” instead of the more traditional routes of top down (liquified poop infusion via nasogastric tube) or bottoms up  (poop enema – going in rather than coming out).  My sister’s donation was carefully processed and strained to make a bacterial slurry (gut-friendly normal flora), that was packaged into triple-coated pills.  I had to eat 32 of them on an empty stomach.

And….it totally worked.  Cured, no more diarrhea.  So, if you are struggling with recurrent / chronic Clostridium difficile, there is cure!

I credit my Heavenly Father for leading me through all the steps above – from the vancomycin, to the pulse-dose regimen, to the doctor willing to perform a fecal transplant (which was then very experimental), to the cure.  God does not spare us from the hardships of life, just as He did not spare Himself from life’s hardships when He lived among us.  Instead, He helps us through.  This gives us an opportunity to grow our faith muscles as we learn to rely on Him for the day’s strength.

Therefore, since we have a great high priest who has passed through the heavens, Jesus the Son of God, let us hold fast our confession. For we do not have a high priest who cannot sympathize with our weaknesses, but One who has been tempted in all things as we are, yet without sin. Therefore let us draw near with confidence to the throne of grace, so that we may receive mercy and find grace to help in time of need.  (Hebrews 4:14-16)

I strongly believe that in this life, nothing happens by accident or coincidence – things aren’t determined by fate or luck (good or bad).  I believe there is an overarching story – a beautiful picture of love, loss, and redemption – and that there is Someone who cares and is in control.  You are already a part of this story, whether you know or believe it or not.  While the end of the story has already been written, your own part lays open before you for you to choose your ultimate destiny.  Perhaps our coinciding struggles have been finely orchestrated to lead you to this one moment: The Bridge to God.

download

“Praise be to the God and Father of our Lord Jesus Christ. The Father of compassion, the God of all comfort, who comforts us in all our troubles so that we can comfort those in any trouble with the comfort we ourselves have received from God. For just as the sufferings of Christ flow into our lives, so also should the comfort of Christ overflow.” (2 Corinthians 1:3-5)