↑

Delicious Little Bites

Loving Life One Bite at a Time

  • About
    • Disclosure Statement
    • Work With Me
    • Contact Me
  • Recipe Index
  • Low Carb
  • Gluten Free
  • Vegetarian
  • Desserts
  • Privacy Policy
You are here: Home / Achondroplasia / Achondroplasia One Year Appointment

Achondroplasia One Year Appointment

Published June 11, 2016. Last updated January 14, 2019 by Lauren Vavala

Thanks for sharing!

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.

Achondroplasia One Year Appointment

This post contains affiliate links, please see out Disclosure Statement for more information.

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

 

Related Posts

Achondroplasia 15 Month Check-Up
Benjamin’s Achondroplasia 15-Month Check-Up
Kyphosis in Children with Achondroplasia Feature Photo
Kyphosis in Children with Achondroplasia
Achondroplasia Page - Benjamin
Benjamin’s 9 Month Checkup (Achondroplasia)
Benjaminn's Second Sleep Study Results - Wires On
Benjamin’s Second Sleep Study Results (Achondroplasia)
Achondroplasia Growth and Motor Milestones Charts
Achondroplasia Growth and Motor Milestones Charts

Filed Under: Achondroplasia

Comments

  1. Fatima DeLosh says

    June 20, 2017 at 8:57 pm

    Hi!, my baby boy has achondroplasia also. He turns 3 months old on June 30th. In August he’s going to have a sleep study again. Did your son need more than one sleep study before a year old? Is Dr Mackenzie’s practice in Delaware? Would you give me his office’s address, please?
    Thank you for sharing your experience with your baby!!❤️❤️

    Reply
    • Lauren says

      June 20, 2017 at 9:10 pm

      Hi! My son had his first sleep study at 7 weeks old. He had to be on Oxygen for a short time so a second sleep study was done around 6 months later and everything was good then and he hasn’t had once since. If you haven’t seen a geneticist who specializes in dwarfism you will want to see Dr. Bober at A.I. DuPont in DE. MacKenzie is there as well but handles orthopedics (our babies have kyphosis/lordosis in the back and possibly bowed legs). You will want to call Angie Duker (Dr. Bober’s genetic counselor/assistant) – For Appointments: (302) 651-5916
      For Information: (302) 651-4181 (skeletal dysplasia)

      Are you in/near DE?

      Reply
    • Kelly says

      August 13, 2018 at 9:18 pm

      Hi there! I’m so happy I stumbled upon your posts. I’m really hoping we could become friends? My son just had his first appointment with Dr. Bober last Friday, and then I found this article! So weird! Small world. We are from Wilson, PA. Where are you from? I could really use some advice and guidance.
      Thank you
      Kelly

      Reply
      • Lauren says

        August 14, 2018 at 9:53 am

        Hi Kelly!! I’m so glad you found my posts and I’d be more than happy to connect! We are from Delaware! You can email me at [email protected] – I have a lot of resources I can share that have been really helpful to me and can try to answer any other questions you might have. We are always happy to make new friends in this community for sure – and somewhat local is awesome!

        Reply

Leave a Reply Cancel reply

Your email address will not be published. Required fields are marked *

Recipe Rating




Welcome, I'm Lauren!

Delicious Little Bites is where I share all types of recipes from appetizers to desserts. You will also find plenty of keto, gluten free, and vegetarian recipes here to help you put a delicious meal on the table every night that the whole family will love! Read More...

as seen on


Copyright ©2023, Delicious Little Bites. All Rights Reserved.