We held our breath as the long awaited call from Hopkins genetics came in last week. I haven’t said much about our initial appt because it was just complete information overload. They told us Grey would be tested for a connective tissue form of dwarfism along with different types of sticklers and a handful of other connective tissue related syndromes. Dwarfism. That just stuck and terrified me. Something we didn’t see coming so frankly we chose to ignore it all and deal with the outcome when it came. Thankfully Grey just comes from a family of peanuts and it was negative. With that news alone I began to breathe a little better. Not that it would be such a horrible thing, but another obstacle for Greyson to overcome. Instead they told us Greyson was positive for Marshall Syndrome.
“Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss. Joint pain and early onset arthritis are also common.”
There is no impact on his intelligence or life expectancy and no two cases present the same. He has a 50/50 chance of passing it along to his children when or if he chooses to have a family of his own. As a mother that is heartbreaking but as the doctor said, with the way medicine is advancing by the time he reaches that age it may be something they have figured out. He still has a high chance of progressive vision and hearing loss, but we are going to take it day by day. He’s been doing his thing, proving doctors wrong since the day he was born and we don’t see that changing.Hopkins is now sending out a kit to test us for this as well. Hopefully this will give Grey a solid medical background that could possibly help him in the future. I’m so thankful for the support of our friends and family through this emotional journey. Although it is hard to have the reality of a diagnosis I’m so glad we now know exactly what we are dealing with.