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Sibling Piggyback

After the Diagnosis

You probably feel overwhelmed and confused. Are you wondering what to do now?

The good news is that you are not alone. You now have a community of families who are here to support you. Families who have all been where you are right now. 


The KBG Diagnosis is simply the first step. Dig in. Take action. And know that we have everything you need to help you or your child live their best life.

Sometimes you just need to know where to start.

After the Diagnosis


Receiving the news that you or your child has a rare genetic syndrome can be very overwhelming. Then add on the need to manage immediate health concerns and appointments, accepting the news emotionally and preparing for the future can feel daunting. 

4 Tips to Help You Start 

Talk to your doctor

KBG Syndrome is a very rare genetic syndrome. Therefore, it is unlikely that your doctor will have knowledge of it or what to expect. It is important to provide your doctor with the most updated information available and any relevant medical resources. You may also find it helpful to provide the diagnosis code for KBG Syndrome which is  ICD-10: Q87.8

There are a wide variety of medical conditions that may affect individuals with KBG Syndrome. Currently treatment is focused on the individual and the symptoms they may present. A thorough medical exam should be completed and any concerns addressed. Certain medical conditions are more commonly found and should be discussed with your doctor to determine the need for screening. 

It is recommended that at diagnosis an echocardiogram, palatal assessment, vision, hearing and dental assessment, pediatric assessment for developmental delay, autism spectrum disorders and behavioral anomalies be investigated.. Additional workup will depend on the clinical presentation.

It can be hard to know what to say and how much to share. Check out our guide on talking to your children about this diagnosis. 

No one will understand the impact of a new diagnosis like someone who has already been there. Finding people who already know what the day-to-day management of KBG Syndrome looks like may help you as you learn to navigate this new reality. It may also provide you with an understanding and compassionate shoulder to lean on.

Download our Free Guide

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