September 6th - Sotos Syndrome Global Awareness Day

My pretty princess :)

 

 

I did not know that.  I woke up to posts in the Sotos Syndrome group that I follow saying that today is Sotos Awareness Day!  I didn't know we even had an awareness day.  I have touched on the subject of Sotos before but I'll go into a little more detail today. 

When Ainsley was a baby she grew, she grew so fast that I was buying new wardrobes every few weeks.  I assumed she was just going to be tall like Brandon and I.  She was sick.  I was told that was because of her CHD.  She had a big head, hands, feet and no hair.  I assumed she was going to look like her dad :)  All of that changed when we saw Dr Shann and he brought up Sotos Syndrome.  Like most people, I went home and immediately googled Sotos Syndrome.  I found a group on Facebook and joined it.  I spent days reading everything I could find that discussed Sotos Syndrome.  One day a family posted a photo of their child on the SS Facebook page.  I was shocked.  I stared at that photo for hours.  I couldn't believe that I was looking at a photo of Ainsley's twin.  I sent that photo to everyone I could think of...even Brandon and they all replied with how cute Ainsley was.  They didn't believe me, at first, when I told them that it wasn't Ains.  At that moment I was sure.  We hadn't received the results of the genetic testing but I knew, without a doubt, that we had finally found the answer we had been searching for.  Once again, my days were spent researching.

Sotos is rare.  Very rare.  I was shocked at how rare it really is.  1 in 10,000 - 14,000 rare.  I have a million dollar baby for more than 1 reason..

So, what is Sotos Syndrome?  I'm asked that nearly every week.  SS is a genetic conditions caused by a mutation or deletion of the NSD1 gene on Chromosome 5.  Simply put, it is caused by a change or absence of the NSD1 gene.  Ainsley has a mutation.  I have not read any reports showing this but from talking with other SS families it seems that children with a mutation do not have symptoms as severe as children with deletions.  SS can be hereditary.  Ainsley's children have a 50% chance of inheriting SS BUT the majority of cases are new cases.  Over 95% of cases have no family history of SS.  For some reason there is a change/deletion before birth and doctors are not sure why.  It is rare to find multiple cases in a single family, but it does happen. 

SS has very distinct features.  The child has a larger than normal head size, large protruding forehead, downward slanting eyes, pointed chin,  high hair line, less hair, large hands and feet.  They also grow at a very rapid rate.  Ains will be 3 in November and she is the same size as her brother, who is 6.  Her last bone age study showed she was advanced by about 2 years.  Her last measurements put her on the growth chart with the average 6 year old.  She is a big girl. 


People with Sotos Syndrome generally have intellectual impairments and behavioral problems.  Problems with speech are very common.  With Ainsley, we will not be aware of any major intellectual problems until she is older.  I, nor Dr Shann, currently suspect any.  Behavioral problems -- we have those.  She was recently diagnosed with PDD-NOS which is a form of autism.  She has violent meltdowns.  She had receptive and expressive speech delays.  I believe a lack of communication skills is the main cause of her meltdowns.  She is frustrated because she can't say what she is trying to say. 

Other signs of SS include scoliosis, seizures, heart defects, kidney defects, conductive hearing loss, and vision problems.  Ainsley currently does not have scoliosis.  She has febrile seizures but no seizure disorders.  She does have 2 heart defects, one of which has been repaired.  She is scanned yearly to check for kidney tumors and thankfully, each year there have been none.  She does not have hearing loss at this time and her vision is great.  She has muscle weakness in her eye that causes something similar to a lazy eye that we are able to treat with drops to strengthen the muscle. They are able to snip a muscle in her eye to straighten it up almost instantly but we didn't want to go that route.  The drops have helped drastically and if it bothers her when she is older I will let her make that decision.  I am a firm believer that there is risk in ALL medical procedures, no matter how small, and repairing a slight lazy eye is not worth the risk, to me.  She may feel differently when she is older. 

Some infants that have SS are jaundice at birth and have poor feeding.  Ainsley had both.  She spent a weekend at home on a bili light and got a very stern lecture from Dr Braden telling her to start eating better.  People think I am joking but after he fussed at her she drank an entire bottle and never fought bottle time again. 

A few people with Sotos have developed cancer but currently researchers are uncertain that SS causes an increased risk for cancer.  It is possible that it is just a coincidence that those people have SS and cancer. 

For our family, the SS diagnosis was a relief.  SS is not life threatening.  Ainsley doesn't seem to have any intellectual delays and should live a full and happy life with the ability to do anything she wants.  We have struggles and bad days but in the big picture they are nothing.  She is healthy, I don't worry any longer that she has a disease that will cut her life short. 

Sotos is a rare genetic condition.  I have never met anyone that was familiar with SS before we talked about it.  In honor of all of the children living with SS please take a moment today to tell just one person about Sotos Syndrome.  If more people were aware of SS we may not have had to wait a year to find out what was going on  with Ainsley.