As a second disclaimer, I am letting the universe know that this is my conversation about the subject. I have NO desire and am NOT willing to discuss this with anyone. What you see below is all I have to give for now. There is nothing left to know beyond this, but my feelings and thoughts will not be discussed outside of this blog unless I choose to bring it up. I ask that you please respect that whether you understand it or not.
Meet Clayton...Clayton has Sotos Syndrome.
This is incredibly hard for me and a very very long time coming. I have been keeping this in for years now. It has been mine and George's secret because I needed it to be. I needed to give Clayton a chance to see where he was headed before I put a name to his genetic mutation for the world to see. I needed to give Clayton a chance to see how little this genetic mutation might influence his life. I needed to see what would be...what could be. At least for a little while. I feel like I have a decent idea now. Enough that I am willing to finally share this information with our friends and family...and the strangers reading this blog. (this is even the first time our parents are getting this information)
When I was pregnant with Clayton certain complications were indicators of a potential underlying syndrome, but the doctors ran tests including an amniocentesis and found nothing. When Clayton was born the doctors did a more thorough genetic work up while he was in the NICU and again they found nothing. At that time, George and I didn't necessarily know anything was amiss, but we knew the doctors were still curious. Eventually we came across a doctor that had us do two tests to test for two potential disorders. One was a blood tests for a disorder that came back negative and the other was a bone density test that had the results come back a certain way would have indicated Sotos Syndrome. The results did not indicate Sotos Syndrome. Moving forward the insurance would not cover further testing so everything was just put on pause (the blood test for Sotos would have cost thousands without insurance). Once Clayton was diagnosed with cancer, insurance once again covered testing. So the doctors ran blood tests for a few items to check. A few months later while sitting in the Oncology Infusion Clinic at USACW, the geneticist found us and gave us the results. We were in a room full of people and in the middle of a cancer battle and just couldn't quite focus on what we had been told. So we said nothing.
Slowly over the coming months, we talked it over with each other and had a real conversion with the geneticist. I told George I needed time with this information. I was worried people wouldn't understand something so unfamiliar. If I say Autism, people know enough not to feel the need to Google it. If I say Down Syndrome, again people know enough not to feel the need to Google it. If I say Sotos, people are going to be like, "what?". So for years we have just told people Clayton had Autism. It was the easiest thing to do. And not a lie. Sotos causes learning disabilities that can sometimes take on the characteristics of Autism. So Clayton IS Autistic, but it is a symptom of the Sotos.
So why the secrecy? I guess that's a two part answer.
Part I: People aren't always smart. They don't always know how to weed out the credible information from the crap. Simply put, I did not want people using outdated, misguided, misinformation or photos to form perceptions or place limits on my child. I feared as soon as folks started Googling Sotos that would start happening. I feel like I was protecting my child and giving him a chance to prove himself and what he was capable off without any stigmas.
Part II: Maybe my secrecy with this doesn't make sense to some people...and guess what? it doesn't have to. But for me, acknowledging this out loud to the world is like accepting all of the things Clayton will never have. All of the things George and I will never have with Clayton. As a parent that is heart-breaking. Heart-breaking in a way that unless you have a child in a similar situation you can never know how gut-wrenching it truly is. Eventually I will elaborate on this one in another post.
That said, Clayton is this bundle of innocence and pureness that this world is missing and I am so lucky he is in my life and so blessed to call him mine. Life with Clayton makes me feel sorry for people who won't get to grow old being witness to this type of innocence everyday. I think we all need that.
So what is Sotos Syndrome?
Below I'll introduce everyone to Sotos Syndrome and tell you all the ways it has influenced/affected Clayton's life so far. It will bring some things full circle and show the connections between his various challenges.
Sotos Syndrome is a rare genetic mutation characterized by excessive physical growth in the early years of life. Sometimes called cerebral gigantism (large head, large forehead) as well. In addition to physical overgrowth, Sotos often affects muscle tone, speech, motor skills, cognitive and social development. The result can be a child who looks older and acts younger. Often times in late childhood, the gap between children with Sotos and those without Sotos begins to close. Sotos plays a large role in developmental timing and many adults with Sotos fall within the normal ranges of size and intellect. Roughly 95% of cases are from families with no history of Sotos.
Below is a list of characteristics/features associated with Sotos and their rate of occurrence. I've highlighted the features we know Clayton to have and marked through the ones we know he does not have. Those characteristics not highlighted or marked through are still possibilities.
Features seen in most children (80%-100%)
- Macrocrania (large skull) without megalencephaly (large brain) no mention of a small brain
Dolichocephaly (high, narrow skull)I don't think so- Characteristic structural changes in the brain on MRI (extra fluid, midline changes)
- Prominent forehead, “receding hairline”
Apparent hypertelorism (eyes look wide-spaced despite normal measurement)- Rosy coloring over the cheeks and nose
- High arched palate (roof of mouth is narrow and arched upward)
- Increased birth length and weight
- Excessive growth in childhood
- Disproportionately large hands and feet they are BIG, but I don't know about disproportionate?
- Low muscle tone one doctor said he had this which makes no sense to us because every doctor/nurse ever has commented how strong he is?
- Developmental delay in the form of Autism
- Expressive language delay
Features seen in the majority (60%-80%)
Advanced bone age (above 97th percentile)- Premature tooth eruption, soft enamel this combined with his chemo was a disaster
- Poor fine motor control odd because some fine motor skills are poor and others not?
- Down-slanting palpebral fissues or “antimongoloid slant” (eye openings are lower in outer corners than by nose) one doctor said he did
- Prominent, pointed chin I think his chin is a little pointy
- I.Q. in the normal range (>70 I.Q.) NO IDEA YET So far he is smart, but silent :)
- Learning disabilities
- Frequent upper respiratory infections
- Behavioral disturbance (anxiety, depression, phobias, sleep disturbance, tantrums, irritability, stereotypies, inappropriate speech, withdrawal, hyperactivity)
Features seen in the minority (under 50%)
- Hyperbilirubinemia (newborn jaundice) Very mild
Persistent feeding difficulties and / or refluxDisclocated hips or club feet- Nystagmus, strabismus (eye movement or focusing problems)
- Autonomic dysfunction (flushing excessive sweating, poor temperature control)
- Seizures
Constipation, megacolon- Scoliosis (curvature of the spine)severe
- Heart or kidney defects Murmur and enlarged left ventricle, lots of kidney problems
Occasional or possibly associated features
Abnormal EEG- Glucose intolerance (pre-diabetes) there was one episode in Texas that made us wonder if diabetes will be an issue in the future. Just had another low blood sugar episode in June.
- Thyroid disorders
Hemihypertrophy (uneven limb length or body mass)- Neoplasms (tumors and cancers)
Sources for the curious:
And now you know...
I'll come back soon with posts about the things we've had to accept Clayton will never have and as a result we will never have; as well as an update on how the geneticist feels about Clayton's progress.
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