Mom Genes

I know way to much about mom genes.  No, not these mom jeans.....

These mom genes....

Yesterday, Toby had his long awaited appointment with Genetics at Children's.  We have been anticipating this meeting for a few months now, ever since a complete stranger sent me a note, sharing similarities between her son and my son.  It was just a few days into my blogging when she read it, and felt compelled to reach out and provide words of comfort and relatability. Sending me resources for parents of children with growth problems, and opening up a door into the world of genetic testing.  Who would have thought, that so soon into my writing journey, it would have provided me with such a wealth of insight?  I had hoped for that outcome when I started, but never would have dreamed it would come so soon, and be so accurate. 

Russel Silver Syndrome

Is my little person a little person?  I have asked myself this, and have been asked by others, for some time now.  Could Toby's tiny stature be a result of dwarfism?  Could he be perfectly healthy otherwise, and just be fated into being tiny his whole life? While his Celiac diagnosis came as a shock to me, in my gut, I do not feel it is the sole reason he is so small.  You see, Toby has had growth problems and an aversion to eating his entire life - long before he was exposed to his now arch enemy - Gluten.  Celiac's would certainly explain a lack of growth as a toddler, but my head can't wrap around that diagnosis as the reason he hated food from the very beginning.  Or, that he has been under the fourth percentile in size his whole life.  

I'd rather gaze at my daddy than eat!

When Lauren reached out to me, she shared with me that her son had been diagnosed with Russel Silver Syndrome.  10 seconds later, I was researching it - only to be floored at how similar the signs are with Toby's symptoms.  Only conclusively diagnosed by specific genetic testing, 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 4 feet, 11 inches, and the average height for affected females is about 4 feet, 7 inches. I read and read, and read some more.  I learned all about genetics, and testing.  And then, I called my doctor.  I'm sure he was delighted to hear from me *says while shrugging shoulders, eyebrows raised, and open palms in the air*.  I whipped out my handy dandy print out from the internet, slashed with yellow highlighter indicating areas of similarities with my son. 

I read through them, intently, explaining my theories after each one.  His quiet nodding helped, and he agreed we should head in that direction.  I shared this discussion with our GI doctor, and again, he agreed.  Then yesterday came. 

Our appointment lasted two hours, and the staff in Genetics were sociable and kind.  We met a few students, who were anxious to get their stethoscopes on Toby's chest (Toby now holds it against himself for them) and digest the knowledge from the genetics physician.  We started with a genetics counselor, who understood and agreed.  Her acknowledgement and recognition of the research I had done was refreshing - as so too often I wince when I talk, fearing I'm being annoying, or dumb, or both.  The doctor was a young man, about my age, with a southern accent.  He sailed across the room on his stool, and we reviewed my thoughts.....


Characteristics Considered to Distinguish Russell-Silver Syndrome Children from other Small-for-Gestational-Age Children:
- body asymmetry – LARGE side is the “normal” side
- large head size for body size
- broad protruding forehead
- low-set, posteriorly rotated &/or prominent ears
- clinodactyly (inward curving) of the 5th finger (pinky)
- syndactyly (webbing) of the 2nd and 3rd toes
- inadequate catch-up growth in first 2 years
- persistently low weight-for-height
- lack of interest in eating
- lack of muscle mass and/or poor muscle tone
- hypoplastic (underdeveloped) chin & midface
- downturned corners of mouth
- thin upper lip
- high-arched palate
- small, crowded teeth
- unusually high-pitched voice in early years
- café-au-lait (coffee-with-milk) birth marks
- dimples in the posterior shoulders and hips
- narrow, flat feet
- scoliosis (curved spine, associated with spinal asymmetry & accentuated by a short leg)

Characteristics of both Small-for-Gestational-Age Children and Russell-Silver Syndrome Patients (but may occur more frequently in RSS children):
-   fasting hypoglycemia & mild metabolic acidosis
-   generalized intestinal movement abnormalities:
-   esophageal reflux resulting in movement of food up from stomach into food tube
    delayed stomach emptying resulting in vomiting or frequent spitting up
    slow movement of the small intestine &/or large intestine (constipation)
-   late closure of the anterior fontanel (soft spot)
-   frequent ear infections or chronic fluid in ears
-   congenital absence of the second premolars
-   delay of gross and fine motor development
-   delay of speech and oral motor development
-   kidney abnormalities
-   delayed bone age early, later fast advancement
-   early pubic hair and underarm odor (adrenarche)
-   early puberty or rarely true precocious puberty
-   classical or neurosecretory growth hormone deficiency
-   ADD and specific learning disabilities
-   blue sclera (bluish tinge in white of eye)
-   hypospadias (abnormal opening of the penis)
-   cryptorchidism (undescended testicles) 


In addition to all of these similarities - children with genetic disorders commonly have other physical traits that Toby has - Light blue eyes, pale skin and thin hair.  

Y'all can continue to talk about me while I play peak-a-boo. Mkay?

And then there was his recent hypoglycemic episode.  The one where Toby was unconscious getting pumped up with glucose via an emergency IV while I was panicking in the corner.  Also, another symptom of this syndrome.   This sign stood out to our doctor though, and he was actually very concerned - more than any other provider we have seen so far.  He referred us to see an Endocrinologist, to see if there was more to this episode than what it seems like on the surface.  Yet another appointment, a week from Monday. 

 I was given a form with emergency instructions for Toby, to carry with me.  If Toby were to ever have an episode like that again, I should give this paperwork to the treating provider, and additional labs are supposed to be drawn.  It states that he is undergoing further evaluation to determine whether this is associated with a genetic disorder. Bolded, it states that the Genetics and Metabolism physician on call needs to be paged and is on call 24 hours a day.  It makes it clear he should be placed in a room and an IV started immediately, and gives exact instructions as to what that IV needs to contain, and how it needs to be administered.   This is slightly frightening, but common sense now that I know what starving him precipitates.  Leading him to say that most importantly, I am NEVER to fast Toby again, and I am ALWAYS supposed to give him food/bottle if he says he wants it.  Always.  This is something I'm doing now, so this won't be hard to continue :)  The doctor said that just from his first look, he thinks Toby has a greater than 10% chance that this is RSS.  But, like everything in the medical world, it has to be complicated. 

Testing for RSS is very expensive, and sometimes insurance companies won't cover the test.  We held off the blood draw until I have time to work this out with them, providing them with yet another letter of medical necessity.  Secondly, genetic testing isn't always very accurate - lending itself to only about a 60% success rate.  And lastly, there are over 200 genetic conditions that can be attributed to dwarfism - most of them found sharing very similar characteristics, and most of them only being concluded by an exact test. Which also require a hefty chunk of change. 

I hope by now, its clear why I felt the need to make this known.  Even if Toby does not have Russel Silver Syndrome,  perhaps, just perhaps, we are on our way to a diagnosis that we can treat.   There is no cure for RSS, but our doctor told us when caught early enough, patients respond very well to HGH (Human Growth Hormone) injections. On average boys that have HGH injections can grow to become 5'4 or 5'5. 

I read too far

I did it again.  I researched too much.  I read too far down the page when I should have stopped, and I learned about all of the scary diseases that RSS is most commonly misinterpreted as. One of them standing out, a condition that predisposes Toby to develop cancer, and the life expectancy for children with this syndrome is late teens, early twenties.  Toby, sharing many similarities between this diagnosis as well.  We didn't talk about this in our appointment, I didn't bring it up, and I was glad when the doctor didn't.  I will reserve my right to freak out internally and quietly now.  

As I drove to my mother's to pick up Lyla, my mind wandered to the negative places it likes to seek out, and envisioned Toby's as a life cut short.  What would I possibly do without him? I try my best to push these demons away, but it is really difficult when the unknown is more known than the known.  And just as I start in a downward spiral, a gift from God, making sure I am well aware he is listening, presents itself.  Running out to the car, before I leave, Mom hands me a thin paper placemat, a disposable remnant from a breakfast out that week.  Only, this wasn't an ordinary breakfast, this was a meal shared by a men's club in Kentucky.  These men meet on a regular basis to eat and break bread, and pray.  They are of many different religions, but they share one common belief, the power of prayer.  One gentlemen I've met and talked with just a few times works with my mother, but I don't know any others personally.  My mother's coworker has heard many stories of Toby's troubles, and just like that, he was added to their list.  Each of them took the time to sign this paper, to let me know they were listening and praying for us.  

It is hard to describe the emotions I have when I am told that someone is praying for us.  I am happy and relieved, I am humbled and thankful, I am sad and sorry - that we are here and I am taking prayers away from other kids or people that need them more.  I know that the Good Lord has enough bandwidth to listen and protect everyone who needs him, but I can't help but feel a sense of guilt that others worry over us.  I guess if I felt that guilty, I would stop sharing all of our bidness with the world, right?  Despite my general concern over everyone else's general concern for our family and our boy, the feelings of just plain thankfulness completely overtake my senses.  I cannot begin to tell you how comforting and fulfilling these acts of kindness do for my soul.  Please. Don't. Stop. 

You take the good, you take the bad, you take them both and then you have the facts of life.  (If you didn't sing that I don't know what to do with you.) The motto, I am trying to live with to sail into next week, and more sticks, and more tests.  And the three months I will have to wait to get a diagnosis.  And as always, I hope you will be right here with us. 

Thank you for listening, 
Lindsey