What Is Achondroplasia? Resources + Tools
What Is Achondroplasia? Resources + Tools

Preparing for Baby's Arrival

BEFORE BIRTH

Preparing for Baby's Arrival

BEFORE BIRTH

Creating a birth plan

Along with your doctor, these guidelines can help you prepare for the birth of your child with achondroplasia

  1. Deliver at a hospital with a NICU. Delivering your baby at a hospital with a neonatal intensive care unit (NICU) will help ensure that the hospital is equipped to care for your newborn. Ask your provider which hospitals near you have a NICU.
  2. Discuss the mode of delivery. Babies with achondroplasia often have larger than average head size, which can make vaginal birth more challenging. Your provider may recommend a planned Cesarean section (C-section).
  3. Talk with the experts. Seeing the following providers before delivering your baby can help you make sure you’re as prepared as possible:
  • Clinical geneticist
  • Genetic counselor
  • Obstetrician
  • Maternal-fetal medicine specialist
  • Anesthesiologist
  • Neonatologist

 

Considerations for expectant mothers with achondroplasia

If you are an expectant mother with achondroplasia, careful planning and a partnership with your obstetrician can help you have a safe delivery. You may have had genetic counseling before becoming pregnant to confirm your (and your partner’s) skeletal dysplasia diagnosis and discuss the possibility of prenatal testing after you become pregnant. In addition, a preconception medical evaluation can assess factors that may affect your safety or pregnancy care.

Medical guidelines recommend receiving care from an obstetrician during pregnancy and delivery due to an increased need for a C-section and the possibility of breathing problems. In addition, consider seeing an anesthesiologist experienced in caring for pregnant people of short stature due to an increased risk of complications from anesthesia. Having achondroplasia does not increase the risk for preterm labor; however, expectant mothers with achondroplasia may have labor induced prior to term.

To prepare for delivery, consider discussing the following topics with your doctor:

  • When and how to have genetic testing
  • How often you should be evaluated for breathing, heart, or skeletal issues
  • When and how often you will receive ultrasounds
  • At which hospital you will deliver your baby (i.e. recommend a hospital with an on-site critical care facility and NICU)
  • Proper fluid management
  • When and how your baby will be delivered
  • What type of anesthesia you will receive
  • How to ensure the post-birth recovery room is adapted for you (for example, appropriate height beds, accessible toilets)
  • If you want to learn more about other skeletal dysplasias, visit LPA's website

Assembling baby’s care team

Aim to have your child evaluated in a skeletal dysplasia clinic shortly after their achondroplasia diagnosis

These clinics have groups of providers experienced in treating people with skeletal dysplasias. Your doctor or a patient advocacy group may have resources to help you locate a clinic if needed. If you can’t travel to a clinic, you can share the latest medical guidelines for managing achondroplasia with your child’s care team.

Your child’s care team will consist of numerous providers, including a pediatrician, pediatric endocrinologist, and geneticist. For more information on which specialists manage various medical issues, see medical complications. Keep in mind that most children with achondroplasia do not experience all of these medical complications and probably won’t need to see all these specialists. The medical checklist: Birth to 5 years can help you keep track of who to see and when.

Next section: First days with baby

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HEAR FROM THE COMMUNITY

“I was four years old when my younger brother was born. I was young and didn’t understand what achondroplasia was. I don’t care if my brother is tall or short. I was simply happy to have a younger brother.”

- Sibling of a person living with achondroplasia

“The greatest joy as a parent is seeing my son be energetic and cheerful. I hope that my son will continue to look forward proudly, hold his head high, and live confidently and cheerfully.”

- Mother of a child living with achondroplasia

“What I want to convey to society is that rare conditions exist, and there are many people in the world who need help. I genuinely wish that the world would be kinder. I hope people have a level of knowledge that allows them to understand the condition when they see a child that is smaller or looks different.”

- Mother of a child living with achondroplasia

“Having achondroplasia, you are going to come across challenges consistently. The way you are going to deal with them is really going to impact your life. Yes, I have challenges; obstacles get thrown at me all the time, but it’s the way of going about it and realizing there is so much more to life than having achondroplasia.”

- Young adult living with achondroplasia

“We have relied heavily on the community. We are quite appreciative of the community and the resources that are available to help parents, siblings and individuals with achondroplasia. The diversity within this community has been quite enriching on many levels.”

- Father of a teenager living with achondroplasia

“My joy is seeing my child’s daily progress. There were many things she couldn’t do like other children. She is gradually becoming capable of those things, little by little. I realized that it’s okay to grow slowly.”

- Mother of a child living with achondroplasia

“Typically, with achondroplasia, people focus on height, but there are other important aspects of the condition that impact quality of life.”

- Father of a teenager living with achondroplasia

“What we have seen is that she has done a great job of adapting herself, getting creative, doing things a little bit differently, but she always finds a way to be successful.”

- Father of a teenager living with achondroplasia

“Really, we are just like everyone else. We may look different, but we like being treated like everyone else.”

- Teenager living with achondroplasia

“Our daughter is a person. She has feelings. Yes, she may be physically different than other children or other people, but I think that it is important to be aware of those differences without necessarily calling attention to them.”

- Father of a teenager living with achondroplasia

“I see in my future pretty much what anyone else would: graduating school, graduating college, going on to a job I like, starting a family.”

- Teenager living with achondroplasia

“My friends would describe me as someone with a big personality, very outgoing, and someone that always is smiling. I’m a people person, and I love making people happy.”

- Young adult living with achondroplasia

“I would tell myself back then [at time of diagnosis], just take a deep breath and let go of the fear a little bit. Fear is normal. Once you are over that fear, you kind of just dive in. You dive into the information, and you educate yourself and learn everything you can learn about achondroplasia and really try to be your kid’s biggest advocate.”

- Mother of a teenager living with achondroplasia

“We were always outside, we always were being competitive, playing sports, just being kids.”

- Young adult living with achondroplasia