Achondroplasia One Year Appointment

Benjamin had his Achondroplasia one year appointment with his geneticist and orthopedist on his actual birthday last week!  We figured he wouldn’t know any different and didn’t want to have to push the appointments off another couple weeks in order to get them on the same day.  My sweet boy cried a few times, but nothing was painful.

He is seen at A.I. DuPont’s Children’s Hospital for anything related to his Achondroplasia.  His one year appointment marks 6 months since we’ve had to make the hour and a half trip up to the hospital!  We’ve been very lucky and continue to receive nothing but good news as he grows and develops.

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At this visit, we saw Dr. MacKenzie (orthopedist) first.  This was the first time we met with him, as his geneticist, Dr. Bober, felt his kyphosis (spinal curve) was minor and we could wait on having it evaluated.  Dr. MacKenzie informed us that Benjamin does, in fact, have a significant kyphosis but because he is really early standing and walking for a baby with Achondroplasia, he expects it to correct itself.  He also mentioned that Benjamin is slightly knock-knee’d which is rare for his condition.  A lot of children have bowing of the legs, so this was also good news for us.  He informed us that he would like to check Benjamin’s back again in 6 months.

Dr. Bober also seemed really happy with where Benjamin is developmentally.  He has been meeting all his motor milestones on the early end.  He can stand with support, walk with support, and will let go and stand unsupported for several seconds at a time now.  His height and head circumference are right on the 50% percentile line, and his weight is one standard deviation below, but that’s actually a good thing too.  He shows no signs/symptoms of any other issues.  His next appointment opening wasn’t for 9 months, instead of the usual 6, but he was okay with us going that long between appointments.

As always, I feel extremely lucky.  When we first started this crazy roller coaster ride, I was so scared about all the serious potential issues that can occur in babies and children with Achondroplasia.  We’ve only had a short period of needing to use oxygen at night and one ear infection (although a second might be brewing now).  We have a long road ahead of us still, but continue to stay optimistic that all will remain great!

Benjamin also had his one year check up with his regular pediatrician.  I dread these appointments far more than the hospital ones!  Shots are never fun and we also were told he needs to see an allergist (back to the hospital!) and a speech therapist, both for issues with food/eating.  Wish us luck!  And please remember:

A Person’s A Person, No Matter How Small ~ Dr. Suess