Eat Happy!

Eat Happy!

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Saturday, December 8, 2012

Short Stature: Petite, Hormonal, Genetic, or all of the above?

Ian has always been on the petite side. He was born by emergency C-section from maternal severe HELLP syndrome. Although Ian was born early because of my issues, Ian had been having issues of his own. Since he was 20 weeks gestationally, he was measuring small. At birth he measured 26 weeks gestational age, even though he was 29 weeks. At 930 grams, 13.5 inches, and a head at 26cm, Ian was our little peanut. Not much has changed in the peanut department.

Ian continued having growth issues in the NICU. Thankfully, he was able to come home at 35 weeks gestational age. It just so happens, he was only 3 pounds 13 ounces. Miraculously, he didn’t need any monitors, machines, or equipment. We have been very fortunate. Since being home, Ian has been growing in hops and skips instead of leaps and bounds. While making net gain, the teeter-totter growth has placed Ian far behind in the preemie “catch up growth” department.

Once Ian’s reflux-motility was under control in December of 2010, he grew wonderfully until June of 2011. Since then, he has been all over the place. The reflux surgery and G tube in September 2011 helped for about five months or so. Since March of 2012, Ian has gained about 1.5 pounds. One and a half pounds in 10 months is very little.

We have been working with many doctors, therapists, and dietitians on Ian’s food and over nutrition. Ian has been able to keep his blood glucose stable since a couple months after the initial reflux surgery. His side effects have been significant. For that reason, it has been hard getting enough calories into his little body. Since he cannot tolerate the osmolarity (density), volume, or delivery of many formulas, finding a good one has been troublesome. Playing with feeding schedules complicates things even more.

The thing is, a lot of times anyone can pin why Ian isn’t growing, ie: illness, surgery, feeding intolerance, volume intolerance, blood glucose intolerance. The problem is that it is simply one thing after another that is keeping him from having the chance to grow........ or so we thought. 



Apparently, that may not be all that is going on. Many people have asked us in the past if “they” (doctors) think that all of Ian’s troubles are due to his prematurity. We always reply yes..... because we had always been led down that belief. As it turns out, there might be other contributing reasons. Ian’s Endocrinologist and feeding therapist both mentioned on separate occasions a syndrome called Russell-Silver (RSS). RSS is a form of primordial dwarfism- meaning proportional growth in body parts and organs. RSS is characterized by short stature without catchup growth, normal head size, triangular face, low set ears, and other physical characteristics.

RSS has both genotype and phenotype. Genotype is how the DNA presents. Phenotype is how the appearance presents. RSS can be genetic but doesn’t have to be. It can occur randomly. There are genetic tests that can diagnose about half of RSS cases, but not all of them. RSS children and adults have many phenotypes. Some show more physical characteristics than others. Some have mostly size and systemic characteristics. Since there is no perfect definitive diagnostic test for all cases, many diagnoses are a clinical judgement call.

Distinguishing characteristics of RSS kids from other Small for Gestational Age kids (SGA) are: 
1) Body asymmetry: one side from another
2) Inadequate catchup growth from infancy to age two
3) Persistent low weight for height ratio
4) Lack of interest in eating enough calories
5) Hypotonia
6) Broad forehead
7) Large head size for body (head on normal growth range)
8) Small chin and possible tooth crowding
9) Downturned corners of the mouth, thin upper lip
10) High arched palate
11) Low set ears
12) High pitched voice as child
13) Inward curving of the fifth finger
14) Webbing of second and third toes
15) Abnormal openings of the penis- Hypospadius
16) Cryptorchidism- undescended testicles
17) Cafe-au-lait birth spots
18) Dimples in posterior shoulders and buttocks
19) Narrow, flat feet
20) Scoliosis

Ian has #2, 3, 4, 5, 6, 7, 8, 10, 11, 14. This is 10 out of the 20 characteristics....... enough worth looking into. The 10 noted are ones that were noted by clinicians, not just us. There are also characteristics of SGA kids in general that are seen more often in RSS kids:

1) Fasting hypoglycemia and mild metabolic acidosis
2) Intestinal movement abnormalities: reflux, delayed gastric emptying, slow intestinal movement
3) Blueish tinge to the whites of the eyes
4) Frequent ear infections
5) Congenital absence of second premolars
6) Delay in gross and fine motor control
7) Delay in speech
8) Kidney abnormalities
9) Delayed bone age
10) Early public hair and underarm hair
11) Early puberty
12) Classic or neurosecretory growth hormone deficiency
13) ADD and special learning disabilities

Ian has #1, all of 2, 4, some of 6, 7, and possibly 9 and 12. Again, ones mentioned by doctors or therapists and also noted by Tom and I. And yet again, worth looking into.

There are certain diagnostic criteria for a clinical diagnosis, independent of a positive genetic test. The PubMed criteria are listed below:


Three of the four major criteria must be met (which Ian does) 

OR 

Two major and two minor (Ian has three major, two minor) 

He also happens to have three of the five supporting criteria 


As you can see, if totally based in clinical diagnostic criteria, Ian certainly fits into the group. However, it isn’t *always* that easy....... but then again, worth looking into. There are a few doctors in the world who have made RSS their life’s work. The prevalence is 1 in 75,000-100,000 births. Because of the rarity of the condition, finding specialist is hard to do. There happens to be one nearby in Manhattan at Mt. Sinai Hospital. The lady there is an Endocrine Geneticist. Families travel from all over the world to meet with her and confirm or rule out a diagnosis. For some, it isn’t that easy. We were once told that children “grown into their phenotypes” as they age for a while. That being said, genetic diagnoses are often a work in progress if it doesn’t jump-out-at-you right away.

We have scheduled to see Dr. Harbison in Manhattan in January 2013. All of Ian’s growths and requested documentation has been sent ahead of time in order to escalate the process. I addition, we have also met with a clinical geneticist here in Virginia to establish some genetic testing. The trouble is, while looking into genetic testing for short stature, RSS isn’t the only concern. There are other genetic conditions for short stature and other characteristics. Ian has been tested for some of those conditions.

Other labs have also been run for him. Metabolic panels are a concern due to maternal HELLP syndrome. There can be a correlation between HELLP in the mother and Fatty Acid Oxidation Disorders (inabilities to digest and process fats). Ian has some of thees symptoms, but not a lot Also, mitochondrial labs are on the table. Ruling out metabolic and mitochrondrial diseases rules out a large chunk, at least for the here-and-now. Ian has had the metabolic and mitochondrial tests done, or is having them within the next few days. We do not have any results at this time. In addition, Ian had some allergy and immunity panels run the other day. Immunity and antibodies, along with allergies can identify other concerns. It sure would be nice if there was a way to collect enough blood to be able to run ANY test needed. Ian’s growth hormone testing will help determine is path of hormonal therapy.

Ian has visited with both his clinical and metabolic geneticist, and his allergist in hopes of taking care of a lot of these labs. We are hoping that Dr. Harbison, as an Endocrine Geneticist, will be able to help take control over both geneticists and endocrinology. I’m not sure if that will happen.

Despite what might be going on genetically, if anything....... Ian is certainly a candidate for growth hormones. This comes from his lack of catchup growth, as well as his SGA diagnosis and also failure to thrive diagnosis. He is getting ready to have his cortisol and ACTH (growth hormone stimulation test) labs done soon. Last week, Ia had a bone age x-ray taken. By looking at the radiograph, the “age” of a child can be determined. if the child isn’t measuring what they *should* be based on their age....... they show a delayed bone age. The bone age can also let doctors know how close a child or teen is to the end of growth. it can even help determine the estimated overall height of a child or teen. We do not have any results back on Ian’s bone age x-ray yet.

Overall, there are many short stature and failure to thrive issues that can be investigated. While we are hoping that none of them will pertain to Ian, only time (and a little testing) will be able to tell. For Tom and I, two type A, definitive, black-or-white type people, this is frustrating. Clinically, we are told that getting a diagnosis helps get faster treatment, makes treatment easier with insurance, and helps “name” what you are going through. We are also told that in most cases, a syndrome is described. A syndrome simply means a collection of symptoms. Well, symptoms are things that are simply treated, or used as part of a condition. Needing a diagnosis doesn’t necessarily keep you from treating whatever the symptoms are. 

More information about growth deficient conditions can be found at The Magic Foundation.

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We don’t know what Ian’s test results will show, or what any Geneticist or Endocrine Geneticist will decide concerning genetic diagnoses. Regardless, we have options with Ian and we have an excellent team working with him. Thanks to great family, friends, and the wonderful support groups on Facebook, we have quite a support team going on here. Each of Ian’s issues has a group online of mommies and families that are there to offer knowledge, support, and experiences to others. I am truly grateful for each of them!

I have to admit, sometimes they know more than the doctors. It’s like going to a doctors appointment with every die-hard-advocating-mommy you can get your hands on! Pretty awesome! As we know more, I will be able to elaborate on the issues. Right now, things are up in the air. The only genetic/growth issue that is really front and center on the table right now is RSS (and his already diagnosed SGA).

No matter what, Ian is our little peanut. Despite a diagnosis, or lack of one...... he will always been the miracle child that gave us an opportunity to do work worth leaving a mark. Standing up for Ian has proven to be the most self-challenging and difficult task of my life...... but it has also been the honor of a lifetime.


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