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.


A Triple CHOP

Thursday was a day of productive appointments. Ian visited the Diagnostics and Complex Care department, the GERD clinic for troubled Nissen kids, and Endocrinology. Back-to-back morning appointments kept us on our toes. Each had something to offer Ian’s plan of care.

DIAGNOSTICS/ AKA: Dr. House!!

The first appointment of the day was with Diagnostics. Excited to see our “Dr. House” for the first time, we waited impatiently. We didn’t have to wait long as we were the first appointment of the day. Dr. Pasquariello and Dr. Magnusson have been at the clinic for a very long time. Dr. Pasquariello was appointed in 1963. We had the opportunity to meet with Dr. Magnusson. Our goal was to look at Ian from a Wholistic point of view. With Ian’s multiple diagnoses and issues, we thought having a global view of everything would be beneficial....... and man was it! We were impressed.

He had a lot of good things to say. He was able to point out a few things we are doing that are helpful and/or necessary. He also gave us some good advice on things that are most likely NOT issues and what can be discarded. Most importantly to us, he was able to rule out almost everything from an all-encompassing standpoint. The only unifying diagnosis would be Russell-Silver Syndrome (RSS). I will have a specific Russell-Silver BLOG post very soon....... but Genetics Home Resource describes RSS as:

Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop low blood sugar (hypoglycemia) as a result of feeding difficulties. Adults with Russell-Silver syndrome are short; the average height for affected males is about 151 centimeters (4 feet, 11 inches) and the average height for affected females is about 140 centimeters (4 feet, 7 inches). 

Many children with Russell-Silver syndrome have a small, triangular face with distinctive facial features including a prominent forehead, a narrow chin, a small jaw, and down-turned corners of the mouth. Other features of this disorder can include an unusual curving of the fifth finger (clinodactyly), asymmetric or uneven growth of some parts of the body, and digestive system abnormalities. Russell-Silver syndrome is also associated with an increased risk of delayed development and learning disabilities. 

RSS is something we were already thinking about. After two different providers brought it up and two others confirmed plausibility, it has been on our minds. More on that later.......... 

Russell-Silver Syndrome- MAGIC Foundation

GERD CLINIC

Our second appointment of the day was with general surgery, the GERD clinic. We are always happy to visit Dr. Blinman and our Dietitian Robin. CHOP has been a lifesaver, literally. After everything they have done for us over the last year, Ian is in a far better place. Twelve months later, we were still dealing with retching. While this wasn’t the type of retching the drops oxygen levels, it was significant enough to elicit sweating, distress, and changes colors to red and purple. No one wants to see their child in that much distress, everyday.

On a recent visit to Ian’s pulmonologist, the retching came up in discussion. There are many pulmonary manifestations of reflux. With all the throat irritation, vagus nerve irritation, and esophageal irritation that can cause chest congestion and lung inflammation, the connection between pulmonary and reflux is well known. Also, ear, nose, and throat disorders can present form the irritation and congestion/inflammation/mucous.

Pulmonary manifestations of gastroesophageal reflux disease

Our pulmonologist has always been an excellent resource. There seems to be a large overlap in some of Ian’s team members, and large gaps in some others. We decided to try Ian on the erythromycin again. He previously used it from age three months to nine months. We stopped because it simply stopped working. It seems that there is a tolerance effect that occurs. Typically, there is a protocol of an “on-off” schedule to help keep the medication working.

Erythromycin, as you can remember, is an antibiotic...... an antibiotic that causes stomach cramping and diarrhea. GI has made that side effect “therapeutic.” By administering in a low dose, the stomach contractions that usually produce cramping still occur, but on a much lower scale. These contractions help the stomach empty quicker. This has often been used as a therapy for delayed gastric emptying. When drugs are used for this effect, they are called Prokinetics.

What is a Prokinetic?

Almost three weeks ago, Ian started a regimen of erythromycin. Ian has not retched since we started the medication. Tom and I hate to even talk about the great news since we are always shot down weeks later. We are hoping that since Ian had good results before, it can happen again. 



While not the original intentions of the CHOP clinic, they were willing to help work with us. The clinic’s philosophy is to use food and supplements, instead of medications, to help with symptoms. It seems as though we have been continuing to struggle. The erythromycin has helped Ian’s motility. By helping the food “move along,” he is accepting his meals more easily.

The dose of the erythromycin needed to be titrated to the lowest effective dose. Since erythromycin typically causes diarrhea from abdominal cramping (such as when taking it as an antibiotic), a minimal dose is desired. Ian has been doing very well so far. Soon, we will be taking an “off” time before restarting.

Ian’s calories were increased overnight so that he can get some “extra” calories before we visit the DAY program at Children’s Hospital of Richmond. Ian is in need of more calories. Hopefully, he can get some growth out of them.

ENDOCRINOLOGY

The last visit of the day was with Ian’s Endocrinologist. We were following up with him concerning Ian’s growth and failure to thrive. We are in the process of reviewing growth hormones. Ian would not begin until age three or four. Despite where we end up with Russell-Silver syndrome, Ian will most likely be undergoing a course of growth hormones.

He ordered a Bone-Age x-ray. This will help them identify where he is in the growing stages..... and can be compared to others later. It can also determine the ultimate growth of a person. This is useful for growth hormones as well as other growth disorder determinations. We completed the Bone Age while we were at CHOP. The Endocrinologist also ordered the Russell-Silver genetic testing.

What is a Bone Age x-ray?

An example of a bone age radiograph at 24 months of age
There are multiple options available when it comes to meeting Endocrinologists and Geneticists in this arena. There is an Endocrinologist in New York City specializing in Genetics, Russell-Silver in particular. Patients travel from all over the world to see her. Many children with this growth syndrome do not show an all-or-nothing yes or no answer. Her expertise includes making a knowledgable diagnosis, or exclusion. More information will follow in the RSS BLOG. A certain percentage, about 10-15% will show on genetic testing, but the other cases are based on clinical diagnoses.

The Endocrinologist at CHOP also ordered testing to evaluate Ian’s cortisol steroid levels. Ian is currently on Flovent, Flonase, regularly and Triamcinolone cream occasionally. The trouble is that being on a certain amount of steroids can suppress your body’s natural steroid production. A blood test will look at current levels. We will take care of this test later on. It must be done between 5A and 8A due to the body’s natural production of steroids.



After a full day of meetings, we headed back to Virginia. It felt good to be home!