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Rare Disease

Top 6 Questions to Ask Your Geneticist

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What is Genetic Counseling?

If your child is anything like our son Jaxson, medically complex, your Pediatrician or Primary Care Physician might refer you all to a Genetic Counselor or Team. We were sent to see a Geneticist because of the many different symptoms Jaxson was exhibiting: failure to thrive, Laryngomalacia, sleep apnea, hypotonia, developmental delays, etc. A Genetic Counselor or Team come together, view your child’s medical history, and come up with a game plan. Generally they suspect a few medical diagnoses and send out tests to confirm their suspicions. If they find nothing they will go back to the drawing board. I am writing this post today in hopes to help you prepare for a visit with the Genetic Counselor based on our experiences.

Prepare!

First and foremost, prior to going to the Genetic Counselor you’ll need to write down a detailed family history from both sides. When you go in for the appointment they will sit down and ask you many questions about your family — it is better to prepare before so you don’t leave any information out.

Write down all of your child’s symptoms, hospitalizations, etc. ANYTHING to help the Genetic Counselor come up with a game plan. After that they may send your child to the lab to have a genetic testing done, it can be one of a few types: microarray, WES, or WGS.

  • Microarray: Detects microdeletions or microduplications of chromosome segments.
  • WES: or Whole Exome Sequencing test, looks at more genes then the microarray.
  • WGS: or Whole Genome Sequencing test, mapping out an individual’s DNA.

So your child has been diagnosed with [insert your child’s diagnosis], what now?

1. What are the symptoms of this diagnosis/condition?

When I got the phone call that our results came back, I had no idea what this was. Thankfully our Genetic Team broke down what features Jaxson may or may not exhibit: he will more likely not be able to work, he can’t live on his own, etc. Since it’s such a rare and new disease it’s really hard to know what to expect after he turns 24-years-old. The oldest individual on our support page at the moment is 24-years-old.

Anyway, ask your team to break down the features or symptoms for you. They’re there to help you in any way that they can. Do not feel that you’re an inconvenience! They should be able to print off information for you and give you the test results for future reference. They can also refer you to a support group or give you their contact information if you have any other questions after the visit.

2. Is it hereditary?

Our first question after hearing the symptoms associated with our son’s diagnosis was that, “is it hereditary?” or “Did we cause this?” We went to see the Genetic Counselor a second time because the microarray came back “normal,” they took our blood and Jaxson’s for the WES. They wanted to see if one of carried the gene IF something came back from the WES.

They found an abnormality but neither my husband or I carried the gene, it was de novo or new, in Jaxson. This is very important to know in case you plan on having any more children.

3. What are the chances of having another with this diagnosis?

Very important question to ask your Genetic Counselor, “will we have another with this diagnosis?” When we spoke with the Genetic Team about the diagnosis they had mentioned that if we were to have another child it would be a less than 1% chance he or she would have the DYRK1A deletion. Since neither of us had this particular mutation it would be a less than 1% chance of having another.

However in Jaxson’s case, if he were to ever have children it would be a 50% chance he would pass the gene to his children.

4. Can this be treated?

Definitely ask if this is something that could be treated or if medication can help symptoms associated with the condition. Some of the children with DYRK1A have cerebral palsy, seizures, or febrile seizures so they take medication in hopes to control it.

5. Are there services that can assist them?

Fortunately for Jaxson he was young when he was diagnosed. We were already in Feeding and Physical therapy prior to the diagnosis, which helped tremendously! We also enrolled into the Early Steps program through the state of Florida and we have an Infant Toddler Developmental Specialist that comes to the house once a week for an hour. There are PLENTY of services out there for your child — take advantage of it!

Make sure you ask your Genetics Team what other services can and should be provided for your child. It will benefit them in the long run. I met a family from Birmingham that enlists their son to a “Sleep Camp” every summer for 4 to 5 weeks. It really is a neat program because they give them a job, teach them basic needs like cooking, and they interact with others.

6. Should I schedule a follow-up?

Check with your team. They may want you to have additional testing done because some features could arise later that are associated with the condition. For example some features associated with DYRK1A that could arise later are heart problems, feeding difficulties, musculoskeletal problems, etc. It’s so hard to tell what will come about because each child has a different mutation of the gene.

Conclusion:

You are not alone. My husband and I had mixed emotions going to see a Geneticist, we wanted answers but were afraid of what the answer might be. Receiving a diagnosis after years of fighting for an answer can definitely bring a floodgate of emotions — please have someone with you if you can. My husband was away at the time and I was thankful to have my friend with me so I could cry and talk. If you’re planning on seeing a Geneticist and have any more questions, please contact me below or email me. I’ll be more then happy to answer them.

Questions to Ask Your Genetics Team #Advice #RareDisease

August 5, 2018
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