Its Official

I received the call this week from the genetic counselor with Gideons test results. He indeed does have sotos syndrome with a mutation in his dna. Using the non technical way of understanding it -- his dna is like a sentence. During his development the letters of a word got jumbled up, so there is a misspelling in his dna which causes the sotos syndrome.

What is it exactly, well its an overgrowth syndrome characterized by overgrowth, developmental delays(especially in the speech area) and low muscle tone. Thats the short and sweet version of it. More information can be found at www.sotossyndrome.org .

Speech should come eventually with therapy and time, but it may be into the elementary school years. We are in the process of teaching Gideon sign language so he has some means of communication. There are behavioral and sleep issues associated with this disorder as well. its not clear what that exactly entails. I can already see a much higher tendency for temper tantrums and an inability to shift gears once upset. The overgrowth part tends to normalize out at some point, roughly around 4 or 5. So it already is a challenge having him much taller and having much longer arms to reach a lot of stuff he shouldnt. There is hope that his muscle tone will improve and that as well should help with speech. And the developmental delays should even out as well. He will always have the facial characteristics of the syndrome, narrow face, pointy chin, and wide spaced eyes.

Long term the prognosis is good but what extent of issues Gideon may or may not have remains to be seen. Most adults with sotos grow up with normal height and normal intellect The challenge will be getting him there! Some have mild learning disabilities or mild mental retardation. Some end up with seizures or scoliosis.

The geneticist has indicated that she thinks he doesnt then have Klippel trenaunay syndrome, rather that the sotos syndrome caused the issues in his leg. That wont ever go away, unless some surgery or something is developed to fix the malformation iwth his vein and transplant lymph nodes. So he will have to continue to wear the compression stocking for the rest of his life. I asked the counselor whether this undiagnosis's the klippel trenaunay and the cerebal palsy. She really didnt give a straight answer only that the sotos syndrome is his primary overlying condition . So we will ask more when we see the geneticist in June.

This didnt surprise me;it really only confirmed what I already suspected pretty highly. It made much sadder than I thought. I expected this to be the case, that he would have sotos -- in fact I was the one who found it and brought it up to his doc in the first place -- but I found some grief in the diagnosis that I didnt expect. I really thought I was prepared for them to say he had it and I guess I wasnt totally there yet. Maybe Im grieving the loss of normal, although I must say nothing of Gideons life thus far has been normal, so Im not sure exactly. I do know this is how i felt after they diagnosed me with lupus. That diagnosis was bantered bout and suspected for 3 yrs, so that wasnt something new either. Yet I felt a distinct sense of sadness then too ...

This is one time I really wish I wasnt right. I searched,googled, talked to docs, and made appt after appt for Gideon trying to find that elusive answer. We got some answers along the way -- none though that seemed to satisfy the question of Gideon. I found those orginal answers , the klippel trenaunay syndrome(KT) and cerebral palsy(CP) only left me with more questions. When I read bout sotos at this point in his life , the lightbulb clicked on and started shouting at me. It was like when doing a puzzle, you search and search for one specific piece only to find it very elusive. And when you find that elusive piece, it just clicks into place -- thats what the diagnosis of sotos syndrome has been like. Suddenly when reading bout this, all his struggles, his birth experience, his medical issues, his delays, everything made sense. I thought why didnt anyone tell me this before, it would have made everything much clearer. It typically isnt diagnosed at birth, usually is at age 2 yrs old or older.

What now? Well not much different really. Already he is recieving services(occupation therapy, speech therapy,and physical therapy) for this developmental delay. We will likely investigate the possiblity of getting him into private speech therapy as well. He will continue to be monitored by his team of docs. His geneticist is already in place from before. God certainely knew what he was doing when he led us to Dr Berry. She is familar with this syndrome and has written papers on the subject as well. Our main thing we will work on will likely be the sign language and the training(teaching him to listen and obey) as we would with any other toddler. It just will be a much longer haul before he gets it.

Already he has developed his own way of comunicating. He gets his point across by bringing you a cup for water and trying to pull you towards the kitchen. Or by trying to show his displeasure by hitting you. He knows how to get his sibling attention too!

We are very blessed to have Gideon, his smile warms up a room!

God is good ... all the time
MJ