- Introduce myself to Mrs. Doe. Remind her that we met 2 days ago.
- How has Lil' John been doing? What are your concerns? How are you and your husband feeling about everything? empathy
- Remember that Lil' John was referred to us to see if there might be something in his genetic makeup that could explain why he was born with some of the problems he has.
- I know it things are really crazy the day we met. Do you remember that we asked to take some of Lil' John's blood to look at his chromosomes?
- We talked a little about how chromosomes hold all our genetic information and are inherited from our parents, so we're supposed to have 2 copies of each one.
- We got Lil' John's test results back today. Unfortunately, they showed something different from what we would normally expect to see.
- Lil' John has 3 copies of chromosome #13. This means that he has a condition called Trisomy 13.
- "I'm so sorry to give you this news"
- respond to her reactions
- use empathy
What is Trisomy 13?Edit
- Trisomy 13 is why Lil' John was born with his medical problems. Since our chromosomes have all the instructions that make our bodies develop and grow, when there is the wrong number (too many), our bodies are affected and don't develop correctly.
- This is why Lil' John is so small, why he has a cleft lip & cleft palate, why he has a heart defect, and why he has extra fingers and holds his hands the way he does. This also means that Lil' John's brain didn't develop properly and he has profound mental retardation (why his head is so small).
What does this mean?Edit
- I'm very sorry to tell you that Trisomy 13 is considered to be a lethal condition. 50% die in the first week, 95% die by 6 months. Males have a poorer prognosis.
- frequent causes of death: apnea, cardiopulmonary arrest, congenital heart disease, pneumonia
How did this happen?Edit
- When Lil' John was created, either the sperm or egg that made him had an extra copy of this chromosome in it, so he has three copies. (this is rare)
- This is not anyone's fault. There is nothing you did to cause it & nothing you could have done to prevent it from happening.
What do we do now?Edit
- These children are usually not recommended for major medical intervention.
- Try to keep the child comfortable - provide food (g-tube) and supportive care.
- Decisions regarding prolonging life (ventilators), continued hospitalization, taking him home with support from Hospice Care (Starshine), residential home placement (St. Joseph's Home) - there are people who can help you take care of him.
- No decisions must be made today. We'll support what you decide.
- How are you feeling about everything? (overwhelmed, sad, angry)
Support Group Info.Edit
- SOFT - Support Organization for Trisomy 18 & 13
- fellow parent
- Any other questions or things you would like to discuss?
- I would like to give you a call later to see how you, Lil' John, and your family are doing. Can meet with your husband later too.
- Here is my card - feel free to call me anytime if you have questions.
- I'll write you a letter that summarizes everything we talked about today, so you don't have to remember it all.
- How will you tell your husband? How will he react?
- Who else will you tell - friends and family?
- What kind of support do you have?
- Infertility - tried to conceive for 8 years . . . how has this affected your marriage?
- ART - 3 rounds of IVF and ICSI
- AMA - age 43
- declined prenatal testing because of miscarriage risk - how does that make you feel? would you have done anything differently?
- interested in future children?
- recurrence risk 0.5% - 1% (at 43, age related risk of CA is 3.23%)
- how will this affect your marriage?
- how have you and your husband dealt with difficult situations in the past?
- ask more about her responses - why?
The information in this outline was last updated in 2002.