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A Closer Look at Genetics Follow Up: Micah


We had taken Micah to a local geneticist due to concerns we had a few weeks after he was born. The local geneticist asked questions and examined Micah and told us, he “may” have CdLS.

She recommended seeing if insurance would cover the genetic testing, which wouldn’t necessarily tell us whether he had CdLS or not, or see Dr. Antonie Kline, the CdLS Foundation’s Medical Director, in Baltimore. We opted to see Dr. Kline.

Mica and his Family

We have not visited a geneticist/genetic counselor every year, but we have seen them at events and/or been in contact with them via email more frequently. We consider Dr. Kline and Amy Kimball as Micah’s geneticist and genetic counselor. We see them because they are CdLS experts and Baltimore is reasonably close to where we live. However, it is still an hour and a half away, so that is why we don’t have more regular visits. When we have had follow up questions, we’ve emailed or called and they have been great about getting back in touch with us. If it is something that requires more than a phone call or email, we’d schedule an appointment and see them.

It is so reassuring seeing specialists who have seen many individuals with CdLS. They can help us know whether Micah is on track for Micah. There is no comparing him to typical children or with children with different syndromes. If we are having a particular issue, they can help troubleshoot, recommend specialists, and/or help come up with a plan of action. In addition, they are up to date on the latest research and findings.

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Sarah, Micah’s mother
Sarah, Micah’s mother

It is so reassuring seeing specialists who have seen many individuals with CdLS. They can help us know whether Micah is on track for Micah. There is no comparing him to typical children or with children with different syndromes. If we are having a particular issue, they can help troubleshoot, recommend specialists, and/or help come up with a plan of action. In addition, they are up to date on the latest research and findings.

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Ostatnio modyfikowane 2024/08/25 10:39 przez Gerritjan Koekkoek
Utworzone 2015/08/07 17:32 przez Gerritjan Koekkoek

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