Author and Contributing Experts to this Guide include:
What is Trisomy 13 (Patau Syndrome)?
Trisomy 13 is a chromosomal condition that results in severe intellectual disability and physical abnormalities throughout the body.
Trisomy means there are three copies of a chromosome. This extra genetic material disrupts the normal course of human development.
There are many kinds of trisomy differentiated by the number that follows the word “Trisomy," which indicates the chromosome that is duplicated.
“All humans have 23 pairs of chromosomes, and they're arranged from largest to smallest, in numbered pairs from 1 to 22, and then our sex chromosomes,” said Brenna Bentley, currently in clinic and completing her master's in genetic counseling at the University of Alabama, Birmingham.
For example, Trisomy 21 is also known as Down syndrome and is the most common and best-known form of trisomy. This means there is an additional chromosome 21, and that results in Down syndrome.
Trisomy 18, Trisomy 13 and Trisomy 9 and other common trisomy conditions..
There are three primary forms of trisomy. They are:
- Full. When a child has a full extra copy of the chromosome in every cell in his or her body.
- Partial. When a child has part of an extra copy of the chromosome in every cell in his or her body.
- Mosaic. When a child has an extra chromosome in only some cells of his or her body. The intensity of Trisomy 13, in this case, will depend on how many and which kinds of cells have the mosaic condition.
The cause of the additional chromosome is not known. However, because there are several recognizable features of Trisomy 13, babies are usually identified with the condition at birth.
The diagnosis is confirmed through genetic testing.
Unfortunately, the mortality rate is exceptionally high for Trisomy 13. A vast majority of babies pass away within the first month of life, and less than 10% of babies born with the condition live past one year old.
"Most of the time, Trisomy 13 is going to be diagnosed before birth or when the child is born, due to the physical features that tend to be quite severe. Often, they are picked up on ultrasound or will be apparent when the child is born,” added Bentley.
Trisomy 13 is also known by other names:
- Patau syndrome
- Patau's syndrome
- Bartholin-Patau syndrome
- Complete Trisomy 13 syndrome
- Trisomy 13 syndrome
The reason it is interchangeably referred to as Patau syndrome is that a British doctor, Dr. Klaus Patau, published a paper in 1960 describing the symptoms. Patau syndrome often refers to the full version of the condition, while Trisomy 13 may encompass the milder versions, such as partial or mosaic situations.
“Sometimes, this condition can be inherited from a parent, but the parent does not show any signs or symptoms of this condition. So, the parent can be considered a carrier.
“A parent only has two copies of chromosome 13. However, one copy might be stuck to a different chromosome, and this is called a translocation. Therefore, when this person has a child, they might pass down their copy of chromosome 13 that's not stuck to anything, as well as the chromosome that is two different chromosomes stuck together, one of which being chromosome 13. Therefore, when those two copies combine with the other parents' copy of chromosome 13, the child ends up with three copies of chromosome 13,” Bentley added.
Signs and Symptoms of Trisomy 13
There are many physical abnormalities and intellectual disabilities associated with Trisomy 13. Some of them include:
- Atrial septal defect (an opening in the wall separating the top two chambers of the heart)
- Brain and spinal cord abnormalities
- Breathing apnea
- Clenched hands
- Close-set eyes
- Congenital heart defects
- Cleft lip or cleft palate
- Cleft hands
- Calvarial skull defect (cranial defect)
- Cystic hygroma
- Dextrocardia (the location of the heart is on the right side of the chest instead of the left side)
- Extra fingers or toes (polydactyly)
- Eyes that are small (microphthalmia) or poorly developed, including a hole, split, or cleft in the iris of the eye (cat-eye), abnormally close eyes, or a complete absence of eyeballs (anophthalmia)
- Holoprosencephaly (brain does not develop into two hemispheres)
- Hunched back or scoliosis
- Hypotonia (poor muscle tone)
- Kidney cysts
- Low-set ears
- Neurological speech impairment
- Omphalocele (intestines, liver, or other organs stick outside of the belly through the belly button)
- Prenatal growth deficiency
- Scalp defects such as missing skin
- Severe feeding problems
- Single palmar crease
- Skeletal limb abnormalities
- Small head (microcephaly)
- Small lower jaw (micrognathia)
- Umbilical or inguinal hernias
- Undescended testicle (cryptorchidism)
“When there are multiple Trisomy 13 symptoms during pregnancy, there's a 95 percent chance that a baby's going to die while in utero. These babies tend to be a little bit small for their gestational age, have heart defects and brain and spinal cord abnormalities. They can also have things such as extra fingers or toes or maybe a cleft lip or palate.
“Some of the more severe symptoms, like the heart defects or the brain and spinal cord issues, can be detected on ultrasound. That might indicate the mom should consider undergoing further testing or imaging to look at the baby a bit more closely to diagnose the baby if it has Trisomy 13,” said Bentley.
“If the baby does survive to birth, about 80 percent of them will die within their first month of life, and only about five to 10 percent will survive past their first birthday,” she added.
Those children who do survive past their first birthday tend to be more mosaic cases where not all cells are affected. However, those that do survive will still experience severe intellectual disability and developmental delays.
Prevalence and Risk Factors of Trisomy 13
Trisomy 13 occurs in 1 of 10,000 to 16,000 births. Women of any age can have a child with Trisomy 13, but the incidence increases as a mother gets older.
The risk of Trisomy 13 recurrence in future pregnancies is 1%.
“Older women are at greater risk because as we get older, our chromosomes are more likely to stick together during the cell division process that makes our eggs and sperm,” said Bentley.
Trisomy 13 appears to affect more females than males who are born, mainly because the vast majority of male fetuses don’t survive until birth. However, the condition doesn't discriminate between different races or ethnicities.
Some cases are inherited, but the vast majority of Trisomy 13 cases appear to be caused by the random formation of eggs and sperm in parents. An error in how a cell divides (called nondisjunction) can result in an abnormal number of chromosomes.
When an extra copy of chromosome 13 is present, it contributes to the genetic make-up of the unborn child.
In cases where Trisomy 13 is inherited, a person not affected by the condition can carry rearranged genetic material between chromosome 13 and another chromosome. When there is no disruption because the translocations are balanced, a person will have an increased probability of passing extra genetic material from chromosome 13 to their children.
That additional genetic material disrupts normal reproduction and produces the outward signs and symptoms of Trisomy 13.
Parents who are at risk of a translocation because of their family history can have a blood test called a karyotype to determine if a translocation is present.
"To determine if Trisomy 13 may be present in an unborn child, expecting mothers have the option to undergo a couple of different blood screening tests. There is an integrated screening test and something called second-trimester screening, which looks at different hormones and proteins that are coming from the baby and the placenta and are floating in mom's bloodstream.
“These can provide a risk estimate for the baby to have Trisomy 13 by comparing the different levels of hormones and proteins to the population average,” said Bentley.
Depending on these results, a different type of test may be suggested.
“If a mom comes back with a high risk for Trisomy 13 on this screening, or is already at a higher risk due to age, then they can undergo a different type of blood screening test called cell-free DNA. This looks at fragments of DNA coming from the placenta and floating in mom's bloodstream, and this test tends to be more accurate because it's looking at DNA instead of proteins and hormones.
“But it's still considered to be a screening test because sometimes the placental DNA does not match the fetuses DNA, and therefore, it can provide a risk estimate, but it cannot say a hundred percent that the baby does or does not have Patau syndrome,” added Bentley.
If screening tests show a higher risk, then diagnostic tests would be the next step.
These tests would either be amniocentesis or chorionic villus sampling.
“Chorionic villus sampling is taking a piece of placenta, so it's not preferred because that placental DNA could be different from the fetal DNA. An amniocentesis is the preferred choice. It can tell you with over 99 percent accuracy if the baby is affected,” said Bentley.
A Trisomy 13 Expert Weighs In
Dr. John C. Carey is Professor and Vice Chair of Academic Affairs at the Department of Pediatrics at the University of Utah. He's also the former editor-in-chief of the American Journal of Medical Genetics and has 45 years of experience working with patients.
He is considered a leading authority on Trisomy 13.
“Because of the common use of amniocentesis, coupled with ultrasounds and screens, Trisomy 13 is commonly diagnosed prenatally. In our own birth defect registry where we record Trisomy 13 in our health department, over 90% of children now are diagnosed prenatally,” said Dr. Carey.
If there is no prenatal testing, then if a child is born with outward signs of Trisomy 13, a blood test can take place to confirm the suspected diagnosis. If the baby does have Trisomy 13, it’s often a good idea to test the parents as well.
This can help determine if the parents have abnormalities with their chromosome 13, which can help influence whether or not to have other children in the future.
What to Expect if You Have Been Told Your Unborn Baby May have Trisomy 13
Trisomy 13 is often detected before birth, and in many cases, this will result in a miscarriage due to severity of birth defects affecting multiple systems.
Traditional prenatal screening includes follow-up confirmation by chorionic villus sampling (CVS) or amniocentesis. Invasive tests have a less than 1% risk for the fetus.
There has also been a recent development and marketing of a non-invasive prenatal diagnostic test (NIPD) using DNA testing with a single blood draw from the mother. This is the same test as the CF-DNA testing mentioned above.
Up to 10% of babies do come to term and are born with Trisomy 13.
“If your child is born with Trisomy 13, you need to be prepared to make some difficult choices. Often, these babies will have very severe birth defects that would typically require surgery.
“Because these newborns tend to have multiple major birth defects as well as being a bit small for gestational age, it's important for the physicians and for the family to think about the pros and cons of surgery, the dangers of surgery, and how they might be affecting this baby's long term outcome before they make those decisions,” says Bentley.
In some hospitals, counselors and physicians can help guide a parent’s choice. A bereavement counselor may also talk to parents about different options and help them decide if they want surgical measures taken at birth, or if they simply want to make the newborn comfortable through palliative care.
At other times, there may be a discussion about whether to even continue the pregnancy or not.
If there is a prenatal diagnosis, much of the counseling and decisions will take place before birth. Birth can be hectic and stressful, so understanding there is a plan in place can help make any transitions easier.
“Whenever you receive a diagnosis, you're told by a doctor that the child is incompatible with life. That's the most common phrase that is heard. It can definitely be a life-limiting diagnosis, and while the child is less likely to live into adulthood, a lot of times with proper medical care, they can live a longer life than anticipated,” said Erin Froehner.
What Can I Expect After My Baby Is Born With Trisomy 13?
If a child is born with Trisomy 13, about 80% will not live past the first month of life. In fact, despite every possible medical intervention, most pass away during the first week of life.
Babies with milder cases may survive this initial period, but the chromosomal defects will slow growth over time. Children will have to overcome many types of health challenges and will need to be monitored closely for vision, hearing, neurological, and developmental conditions.
Infections and feeding issues are also constant challenges because so many of the body’s systems are impacted by Trisomy 13.
5% of children will survive past the first year of life and will need intervention programs and special education opportunities when they reach school age.
Support groups consisting of other parents with children who have Trisomy 13 can be a critical source of information and resources to help ease the considerable burdens.
Treatment Options for Babies with Trisomy 13
There is no cure for Trisomy 13. Instead, babies are generally treated with supportive care based on specific symptoms.
Even if surgery is indicated, it is generally not performed during the first few months of life because of the high mortality rate for Trisomy 13.
Doctors and parents are often forced to consider decisions regarding extraordinary life-extending measures against the severity of the physical and neurological conditions that babies face with Trisomy 13. Prolonged survival is always an issue for any surgical or treatment procedure.
The Prognosis of Trisomy 13
As you can tell, the prognosis for a baby affected by Trisomy 13 is not good. Many children do not survive to birth and those that do often pass away during their first month of life.
The small percentage that do survive, mostly because they have less severe cases of Trisomy 13, still face considerable challenges to simply survive. Feeding, breathing, vision and hearing issues, heart defects, neurological defects, and a host of other serious conditions mean that a baby is always at a high risk of infection and death.
“Birth defects or the congenital malformations that occur as part of the condition involve many organs but invariably involve the brain and usually involve the heart. That’s why there's frequently an attitude of having pure comfort care,” says Dr. Carey.
“The overall prognosis is that about 15 percent of children do die in the first week of life, and by a year of age, about five to 10 percent of children would survive the first year. In other words, over 90% percent do not survive till their first birthday,” he added.
It’s difficult to get any meaningful statistical information for those few people who do survive longer term.
“We don't have very good statistics after five. But I'm doing a study on eight adults with Trisomy 13. So, we know that there is survival past that infant period, even though statistically it's a small number,” said Dr. Carey.
The Moral and Ethical Issues Surrounding Trisomy 13
How to best provide treatment is a subject of debate among medical professionals. A combination of parental education, what kinds of care to provide, and overall awareness of impacts of Trisomy 13 are critical issues at the heart of many discussions.
With Trisomy 13, parents are being asked to make sudden, complicated, and emotionally painful decisions. Often, what they determine they want may be at odds with what physicians recommend or societal norms.
Here are some key observations on the moral and ethical issues of Trisomy 13, taken from a recent interview with Dr. Carey:
“Once the child is born, now we relate the information we know about the birth defects in particular in that child, especially around the heart and around breathing.
I do usually state these (mortality) statistics, but also emphasizing the fact that there are some survivors. I don't avoid the fact that because of the heart defect and because of breathing problems, the first days, weeks in life can be quite challenging.
Children can leave the hospital needing some oxygen or ventilatory support, increased risks for coming into the hospital more often than another child. They kind of go into this, with a child who has a somewhat technologically dependent lifestyle, and while they should be ready for such a life, though, that's where they're going to move to. It's really their choice to make that decision.
My colleagues and I debate this issue. There are those that say, we should be giving them more emphasis on what they're getting into and what they're putting the child through, what they're putting themselves through, kind of directing them more toward, what’s in the child's best interest…pure comfort care is the best option for the child.
I've tried to be more balanced about that, and my colleagues challenge me on that notion.
I do think that the palliative care field that has arisen in pediatrics in the last few years. I think the majority of the palliative care field talking to them would kind of agree with the idea that I'm promoting or talking about, which I would refer to by a commonly used term now, shared decision making.
That is, the family doesn't make the decision in a vacuum by themselves. We help them with that decision.
We support what they're going to do and work through that, but we certainly don't want to sugarcoat the fact that if a family chooses to start intervention and continue it, there are going to be a lot of challenges in the first year of life.
What's happening now is there's more prenatal diagnosis, and even more fetal centers. Because of how many people are on the internet, regardless of socio-economic background, people are connecting prenatally, or soon after birth, on Facebook, and with web pages.
I haven’t seen a family in the last few years that hasn't already had some connection with the internet and some connection with other families online. That really is different than ten years ago, or ten years ago, they might have learned about SOFT or Living with Trisomy 13.
There's a very strong presence of Facebook. And on Facebook, there are families who will tell parents prenatally or early postnatally, what their experience has been with their child.”
What to do Next: Further Information and Support
Because of the severe and overwhelming nature of Trisomy 13, it's critical to seek many forms of support both prenatally and if your child is born with the condition. Here are some strategies to help you work through a diagnosis.
A combination of genetic counseling, support groups, and just talking with others can provide substantial support in your time of need.
“It can also be beneficial just to talk to someone who's going through something similar. Many support groups can either provide just connections with other families who've had a member with this condition or who've passed away. There's a couple of good ones such as the Support Organization for Trisomy 18 and 13 and Related Disorders, and there's also an International Trisomy 18/13 Alliance that needs individuals to share their stories and provide support,” said Bentley.
Dr. Carey echoed those sentiments.
“The most straightforward, easy to access, and good resource is, trisomy.org, www.trisomy.org, which is the web page of SOFT, Support Organization for Trisomy 18 and 13. This is because the challenges in 18 are very similar to 13. And that particular group has representatives in every state in the US and many provinces in Canada that can be accessed usually by their email or phone.
“There are many families and many parents who have lost their children, or who have even elected to terminate their pregnancy with Trisomy 13 that would be available for connection. You can check it out at trisomy.org. Then, the other leading connecting person in the world is Therese Ann Seigle.
She's in California…and has done a lot. She's involved in SOFT. She's been the captain, the quarterback of the Facebook for Trisomy 13. There's more than one Facebook for all these conditions, but that's the one I think that's the most connected.”
For additional support, consider contacting the following organizations that deal with Trisomy 13 and related conditions. (Source: GARD website)
Support Organization for Trisomy 18, 13, and Related Disorders (SOFT)
c/o Barb Vanherreweghe
2982 South Union Street
Rochester, NY 14624
Toll-free: 800-716-SOFT (7638)
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Telephone: +44 (0)1883 723356
Everything to know about Trisomy 13, from the experts.
Hear from the experts in our conversations on a rare genetic disease: Trisomy 13. We cover Trisomy 13 diagnosis, new treatment options, and how to connect with the Trisomy 13 community.
Experts in this episode include:
Brenna Bentley, a genetic counseling student completing her masters at The University of Alabama at Birmingham.
Dr. John C. Carey, MD, professor and Vice Chair of Academic Affairs, Department of Pediatrics, at the University of Utah.
Erin Froehner, executive director for the Hope for Trisomy organization, and mother of a child afflicted with trisomy 13.
More resources and information for you: raredisease.com/trisomy13
Nate: You're listening to the Rare Disease Connection, a production of Aspect Health and raredisease.com. There are roughly 7000 rare diseases and estimates are that a rare disease affects nearly one in 10 Americans and hundreds of millions of people worldwide. When you hear numbers like that, it's clear that rare diseases aren't so rare. If you or someone you love is affected by a rare disease, you likely have more questions than answers, and that's why we're here.
Nate: Rare Disease Connection and our additional resources at raredisease.com and yourdna.com, bring together the people whose expertise can explain what you're facing. From diagnosis to prognosis to treatment options, all the way to questions like, who do I talk to you? And where are all the people who've been through this before? You'll find those answers here. We speak with geneticists, academics, doctors, genetic counselors, other patients and families, and patient organizations to get their answers and insights on what anyone who's affected by a rare disease can do to plan for the future. We're here to connect you. This is Rare Disease Connection.
Nate: Hi everyone. This is Nate. I'm co-host of Rare Disease Connection and co-founder of Aspect Health. Today I'm bringing to you some recent conversations we've had with experts from around the world about a rare genetic disease with two different names, trisomy 13, or Patau syndrome. Before you listen, we know that hearing from these experts is likely only the beginning. That's why we've taken all the information from these conversations and we've added additional resources, further explanations and other links and references for you to follow up on in a downloadable guide on trisomy 13.
Nate: You can get your free copy of that guide by going to raredisease.com/trisomy13, that's raredisease.com/trisomy13. Head there after you listen for so much more to help you on your journey to understanding this disease. It will certainly help support you in your ongoing plan of action. So I've got the experts here with me. So let's talk about Patau syndrome, or as it's also known as trisomy 13.
Nate: Our first conversation is with Brenna Bentley. She is currently in clinic completing her master's in genetic counseling at the University of Alabama, Birmingham. She's going to introduce herself and then we'll talk through defining trisomy 13, how it's diagnosed and who it typically affects.
Brenna Bentley: So like you said, I'm a genetic counseling student. Currently at the University of Alabama, Birmingham. I'm in my second and final year and will be graduating on May 1st. I'm about to move up to Danville, Pennsylvania to see my last two rotations up there, and so far I've had a chance to rotate almost through all different specialties and I've particularly enjoyed prenatal and pediatrics. So I am looking to see where that takes me in the future and right now I'm still open.
Nate: Well, I mean, let's talk about the science behind the causes of Patau syndrome, and speaking from your experience, Brenna, as a genetic counselor, what immediately comes to mind when you hear the words Patau syndrome?
Brenna Bentley: When I hear Patau syndrome, I think of a very rare chromosomal condition that can be particularly difficult for families. Babies who have this condition, and it's also called trisomy 13, have three copies of chromosome 13, and they do not tend to survive to term and those who do survive to term pass shortly after birth.
Nate: So is trisomy 13 genetically inherited and if so, is it recessive or dominant?
Brenna Bentley: So the majority of trisomy 13 cases are not inherited. It's not something that either of the parents did or did not do to cause this condition. So like some other chromosomal conditions, it's due to the presence of an extra chromosome. All of us humans have 23 pairs of chromosomes, and they're arranged from largest to smallest, from pairs one to 22, and then our sex chromosomes.
Brenna Bentley: Individuals who have trisomy 13 actually have a extra copy of chromosome 13. So sometimes this condition can be inherited from a parent, but the parent does not show any signs or symptoms of this condition. So it can almost be considered like a carrier. So the parent only has two copies of chromosome 13. However, one copy might be stuck to a different chromosome, and this is called a translocation. Therefore, when this person has a child, they might pass down their copy of chromosome 13 that's not stuck to anything, as well as the chromosome that is two different chromosomes stuck together.
Brenna Bentley: Therefore, when it's combined with a partner, a single copy of chromosome 13, the child ends up with three copies, having trisomy 13. However, this is not the majority of cases of trisomy 13 and only about 20% are actually inherited this way while most of them are random like I described in the first set. The final way that an individual might have trisomy 13 is if they only have it in some of their cells. So meaning some cells have three copies of chromosome 13, while others only have two, and this would be considered to be mosaic trisomy 13, and these individuals tend to have more mild features, because not all of their cells are affected. However, it's difficult to tell how effective these individuals will be or what signs or symptoms because it depends on how many of their cells are affected and which ones are affected.
Nate: Okay, so what are some of these common signs and symptoms of Patau syndrome or trisomy 13?
Brenna Bentley: So unfortunately, when a baby has trisomy 13, there's a 95% chance that this baby's going to die while in utero, so while the mom is still pregnant. These babies tend to be a little bit small for their gestational age, have heart defects and brain and spinal cord abnormalities. They can also have things such as extra fingers or toes or maybe a cleft lip or palate majority of the time because these birth defects, some of them tend to be more severe, like the heart defects or the brain and spinal cord ones, they can be detected on ultrasound, and so that might indicate that the mom might want to undergo further testing or imaging to look at the baby a bit more closely, and to diagnose the baby if it has trisomy 13.
Brenna Bentley: If the baby does survive to birth, about 80% of the kids will die within their first month of life, and only about five to 10% will survive past their first birthday, and a lot of times that past their first birthday tends to be the more mosaic cases where not all of the cells are affected. And those that do survive will experience severe intellectual disability as well as developmental delays.
Nate: So we talked a little bit about this but who gets Patau syndrome? Is it more common in males or females? And what are the chances I guess of having a baby with trisomy 13?
Brenna Bentley: So everyone is at a risk to have a baby with Patau syndrome simply based on their age alone, and as we get older, especially mothers are at risk to have a child with Patau syndrome increases. This is because as we get older, our chromosomes are more likely to stick together during that cell division process that makes our eggs and sperm that I talked about earlier. However, even if you are a 42-year-old mother who is going to have a child, your risk to have a baby with trisomy 13 is still less than 1%.
Brenna Bentley: That being said, the majority of babies with trisomy 13 are actually born to younger mothers just because that population tends to have more children as a whole. Overall though, this condition doesn't discriminate between different races or ethnicities. But there have been a few studies that show that Patau syndrome might be slightly more common in females than in males.
Nate: Well, I think we've already addressed this but I did want to ask explicitly, at what age does Patau syndrome appear?
Brenna Bentley: Most of the time, it's going to be diagnosed before birth or when the child is born, just due to the physical features that tend to be quite severe, and those can often, like I said, be picked up on ultrasound or will be apparent when the child is born. Nate: Let's talk about the actual diagnosis of this disease. Can you explain the current landscape for genetic tests that are available for Patau syndrome?
Brenna Bentley: So all expecting mothers, regardless of age will have the option to undergo a couple of different blood screening test. There's integrated screening and something called second trimester screening, which looks at different hormones and proteins that are coming from the baby in the placenta, and are floating in mom's bloodstream. And these can provide a risk estimate for the baby to have trisomy 13 by comparing the different levels of hormones and proteins based to the average.
Brenna Bentley: However, if a mom comes back with a high risk with this screening, or is already at a higher risk due to age then they can undergo a different type of blood screening test called cell-free DNA, which is looking at those fragments of DNA coming from the placenta and floating in mom's bloodstream, and this test tends to be more accurate because it's looking at DNA instead of proteins and hormones. But it's still considered to be a screening test because sometimes the placental DNA does not match the fetuses DNA, and therefore, it can provide a risk estimate, but it cannot say a hundred percent that the baby does or does not have Patau syndrome.
Brenna Bentley: If it comes back, though, with a higher risk, this would be a reason to do a diagnostic test, and so there's a couple of different options. The first one being an amniocentesis and the second being a chorionic villus sampling, because the chorionic villus sampling is taking a piece of placenta, it's not preferred because again, that placental DNA could be different than the fetal DNA and so it's often preferred to do an amniocentesis, and it can tell you with over 99% accuracy if the baby is affected, and through the amniocentesis, they would be using amniotic fluid, which is what the baby's floating in and it has fetal cells in it. And so they're able to look at those fetal cells and count the chromosomes to see if baby has a third copy of chromosome 13.
Brenna Bentley: If a mom decides to not undergo prenatal screening, or perhaps it wasn't an option for her or she didn't want to go forth with prenatal diagnosis, after the baby is born, if they're suggestive features, then there can be a blood test done on baby where they would take some blood from the child, and again, look at those different chromosomes. Sometimes, if the baby is found to have trisomy 13, it might be a good idea to have parental testing, because they will want to see if one of the parents carry a chromosome 13 that is stuck on another chromosome because this can influence their risk for having future children that might be affected.
Nate: Okay, so we've established that Patau syndrome or trisomy 13 is commonly detected prenatally. If you're one of the five or 10%, that kind of do come to term when the child is born, what can a person expect after their baby is born with trisomy 13?
Brenna Bentley: So if a person's child is born with trisomy 13, they need to be prepared to make some difficult choices. Oftentimes, these babies will have very severe birth defects that would typically require surgery. However, as I mentioned, they tend to have multiple major birth defects as well as being a bit small for gestational age. So it's important for the physicians and for the family to think about the pros and cons of surgery, the dangers of surgery and how they might be affecting this baby's long term outcome before they make those decisions.
Brenna Bentley: There can also be oftentimes, counselors and physicians that can help with these decisions. Some hospitals even have something called a bereavement counselor that can talk about different options for the family, and if they decide that they want surgical measures taken at birth, or if they want to have palliative care, there will be people there to help them with those choices.
Brenna Bentley: I will say though, once families received this diagnosis, they will have lots of things to think about, and I know some physicians who do recommend that families go ahead and think about those choices prior to giving birth. Just because that can be a really hectic and stressful time, and so knowing that there's already a plan in place can sometimes make that transition a little bit easier.
Nate: Okay, so you've touched a little bit on the planning side, and also what resources might be there for parents who are faced with this kind of difficult situation. What's your best advice coming from the GC world for someone who has a child who's diagnosed with Patau syndrome, or has a loved one who is going through this?
Brenna Bentley: I would say that this is a very difficult time for this family, and it's important to have a group that can support you. I mentioned like I said, social workers and bereavement counselors, but it can also be really helpful just to talk to someone who's going through something similar. There are many support groups that can either provide just connections with other families who've had a member with this condition or who've passed away. There's a couple of good ones such as the Support Organization for Trisomy 18, and 13 and Related Disorders, and there's also an International Trisomy 18/13 Alliance that needs individuals like to share their stories and provide support and do whatever they can because no one can really understand what you're going through except perhaps someone who's gone through it before.
Nate: Thanks again, Brenna, for joining us and bringing us your insights. Speaking with genetic counselors is always valuable, and we appreciate the role they play in helping families who are affected by diseases like Patau or trisomy 13. Our next conversation's with Dr. John C. Carey.
Nate: Dr. Carey is Professor and Vice Chair of Academic Affairs at the Department of Pediatrics at the University of Utah. He's also the former editor in chief of the American Journal of Medical Genetics, and has over 40 years of experience working with patients. In short, you'd be hard pressed to find someone with as much knowledge and his experience related to trisomy 13 as Dr. Carey.
Dr. John C. Carey: My name is John C. Carey, MD, I'm a physician and trained in pediatrics, and then medical genetics. As mentioned, I've been in the field now for 45 years. At the University of Utah, I'm a professor of pediatrics and formerly chief of the Division of Medical Genetics. But now as I move along, I'm involved in other roles.
Dr. John C. Carey: I currently have a number of research projects going on in the trisomy conditions, specifically 13 and 18, including right now a study of eight adults with trisomy 13. Something people are surprised about when they hear but I'm also writing a review article for the Journal of Rare Diseases on trisomy 13. I wrote another one on trisomy 18, about nine years ago, but now I'm doing trisomy 13, and I also have been involved in developing some projects through the support group where we can gather more valuable data for physicians and neonatologists about medical treatment of children with trisomy 13, because you may know that there's actually kind of a conventional wisdom that usually one's approach is not intervention or pure comfort care. Sorry for that tangent but I also work on the genetics of hearing loss and on the epidemiology of birth defects.
Nate: Fantastic, thank you. Well I guess, you mentioned trisomy 13. I know that the name Patau syndrome and trisomy 13 are kind of being used interchangeably or at least that may be the layman's understanding of this. Could you tell me a little bit about the naming and nomenclature of those two things. What's more common and why are there maybe two ways that this disease can be referred to?
Dr. John C. Carey: Right, I think the easiest analogy made would be the relationship between Down syndrome and having trisomy 21. So Down syndrome, which people know much more about, might not even qualify as a rare disease based on its prevalence as three chromosomes number 21. Trisomy 13, has three of the number 13 chromosome. So they're referring to a condition as trisomy 13 is actually referring to its cause, the extra chromosome, but as so is so common in medicine, in particularly in rare diseases, eponyms stick more.
Dr. John C. Carey: It's not that easy to remember Patau because his name is a little bit harder to pronounce if you see it written. He wrote his paper in 1960. It appeared in the British Medical Journal, Lancet, and after that the chromosome condition referred to as trisomy 13 was as well commonly referred as Patau syndrome, but the 95 to 98% of children who have almost a full or a full 13 could easily be referred to as Patau syndrome. But trisomy 13 could be broader in the sense there might be milder versions of it, meaning they don't have the full chromosome.
Dr. John C. Carey: So they might not get the designation. So it's quite similar to Down syndrome. The chromosome abnormality is trisomy 13. The name of the physical syndrome is usually referred to by the eponym of Dr. Klaus Patau.
Nate: Well, I was someone with so much experience to this and who's deeply involved and working with the condition and the people who have it, I'm curious what just comes to mind the moment you hear the words, trisomy 13 or Patau syndrome?
Dr. John C. Carey: Well, I think for me, it may be different in let's say most pediatricians or newborn doctors or geneticists, but what comes to mind is a rare condition that has serious medical implications that can threaten life, and also are associated with a range of medical problems and complications, if including developmental disabilities.
Dr. John C. Carey: I think that the average person when thinking of trisomy 13 will usually think, oh, shorter lifespan. So that seems to be connected because that particular aspect probably drives and informs so much else about the care of kids with this condition.
Nate: Well, and I guess just to follow on to that a little bit, I mean, at what age is this condition typically diagnosed and also, who does it most typically affect?
Dr. John C. Carey: Right. Very commonly now, trisomy 13, and it's connected Patau syndrome are diagnosed prenatally because of cell-free DNA and prior to that, because of screening, the quadruple screen and also because of the common use of amniocentesis coupled with ultrasounds and screens. So trisomy 13 is commonly diagnosed prenatally. In our own birth defect registry here, where we record trisomy 13 in our health department, over 90% of children now are diagnosed prenatally. But if not diagnosed prenatally, trisomy 13, would invariably be recognized in the newborn period, even by the less experienced pediatrician because of often the obvious birth defects in particular, the cleft lip and palate and the eyes findings but the other external and even internal defects.
Dr. John C. Carey: So in terms of who it most typically affects, of course, everyone and every ethnic group in the world is at an increased risk of this extra chromosome occurring which does occur, which this event occurs more often as families and in particular women get older, and basically the frequency of trisomy 13 is about one in 10 to one in 15,000 newborn babies. Nate: And after diagnosis, what is the typical prognosis for someone with trisomy 13 and also what is the estimated life expectancy?
Dr. John C. Carey: So the prognosis is primarily related to the birth defects or the congenital malformations that occur as part of the condition and these involve many organs but invariably involves the brain and usually involve the heart. So the overall prognosis, which is why there's frequently a attitude of having pure comfort care. The overall prognosis is that about 15% of children do die in the first week of life and by a year of age, until recently, until recent numbers, about five to 10% of children would survive the first year. So that over 90% would not survive till their first birthday.
Dr. John C. Carey: So the median age of death until two recent studies is actually usually in the single digit. That is usually of eight to nine days of life, that is the median age. However, two recent studies, one in the US and one in Canada, both show that survival in recent years has increased, so there rather than being in the ballpark of five to 8%, close to five to 10%, now it's 12 to 14% of newborn babies will survive till their first birthday. And if infants survive till their first birthday, almost 90% of them survive till five years of age.
Dr. John C. Carey: We don't have very good statistics after five. But as I just mentioned, I'm doing a study on eight adults with trisomy 13. So we know that there is survival past that infant period, even though statistically it's a small number.
Nate: Well, I guess to follow on to that a little bit, I mean, what is your best advice for someone or a family who receives a diagnosis of trisomy 13? What do you tell them to follow along with some of those probably more encouraging statistics of recent studies and the reality of the non-grim but the bright possibility that so many actually do have?
Dr. John C. Carey: So I think that's a hard one. What I would like to do and what I've recommended in print, in articles, what I've recommended at various podiums is that we present to the family and let's say and a live born baby, although you could go back and talk about prenatally too, but some don't come to live birth. So you have to put that in perspective too. But once the child is born, now we relate the information we know about the birth defects in particular in that child, especially around the heart, and around breathing.
Dr. John C. Carey: I do usually state these statistics, but also emphasizing the fact that there are some survivors. I don't avoid the fact that because of the heart defect and because of breathing problems, the first days, weeks in life can be quite challenging. Children can leave the hospital with needing some oxygen or ventilatory support, increased risks for coming into the hospital more often than another child. They kind of go into this, child who's somewhat technologically dependent lifestyle and while they should be ready for such a life, though, that's where they're going to move to. It's really their choice to make that decision.
Dr. John C. Carey: My colleagues and I debate this issue, there are those that say, we should be giving them more emphasis on what they're getting into and what they're putting the child through, what they're putting themselves through, kind of directing them more toward, well, perhaps maybe, really, in the child's best interest a pure comfort care is the best option for the child. I've tried to be more balanced about that and my colleagues challenge me on that notion.
Dr. John C. Carey: I do think that the palliative care field that has arisen in pediatrics in the last few years. I think the majority of the palliative care field talking to them would kind of agree with the idea that I'm promoting or talking about let's say, which I would refer to by a commonly used term now, shared decision making. That is, the family doesn't make the decision in a vacuum by themselves. We help them with that decision. We support what they're going to do and work through that but we certainly don't want to sugarcoat the fact that if a family chooses to start intervention and continue it, there are going to be a lot of challenges in the first year of life.
Nate: And what role do genetic counselors play specifically in that decision making and in the process of a family that receives this diagnosis? Are they brought in to sit alongside and aid in more of a counseling role? I'm always curious about the roles between physicians and genetic counselors and what families can expect from the two parties in this situation.
Dr. John C. Carey: Right, well, for me, I'm always partnering with, usually one in particular, but two of my colleagues in these sessions because I do believe that four eyes, four ears and two sets of brains in trying to be support is better than one in terms of balancing, clarifying, and sometimes, even I think for the genetic counselor that I work with most closely, she actually often plays a more regular role and follow up, to see how things are going after that.
Dr. John C. Carey: Lately, Nate, I've been involved in our fetal center here that we established a primary children's hospital at the University of Utah. So in my own role now, where I'm actually decreasing some of my clinical duties. The fetal center is one of the things I've been doing. So we are now meeting with families both prenatally, who are diagnosed through the center, where we used to see prenatally before, but now it's more formalized, and then postnatally.
Dr. John C. Carey: So I think your interest in this role is important. In pediatrics specifically, you may know that genetic counselors and physicians in checks usually work together as a team co-counseling, as you call it, sometimes workout overlapping, or maybe one primary role, one secondary. In obstetrics and gynecology, and in cancer, you've probably encountered this. Counselors tend to work somewhat more independently, and while certainly they work with obstetricians, and they work with oncologists, they're a little bit more independent than the role I just described that I have.
Nate: Right, and to jump back just to the treatment and care options that are there for families who receive this, a diagnosis of trisomy 13 and maybe choosing to go down the path of intervention you were describing. I wanted to see if there's any other details you could provide about, like what they are choosing to go through medically, treatment-wise, what should they expect in that first year and beyond if they go that way?
Dr. John C. Carey: Right, so of course, it matters somewhat differently for the child. But usually what we're talking about in especially in the first few days, is getting a sense of what particular manifestations or features this particular child has. So if we learn right away, that she or he has one of the severe brain malformations that occur in trisomy 13, we already have a variable that we know portends much more challenging outcome because of the issue of the brain not telling the baby to breathe.
Dr. John C. Carey: So right away from the beginning, what I'm suggesting in treatment is to first characterize what the baby has. What heart defect does she or he have if they have heart defect? Do they have the brain defect that's called holoprosencephaly, which predicts a much more difficult time even with breathing? Are there any other defects we need to know about immediately? Like a blocked up bowel, or something of this sort.
Dr. John C. Carey: So once that, very often, they'll be a one road to go is, well, we characterized all that, prenatally. Now we've made the diagnosis, we're going down the trail of pure comfort care, no intervention. We're not really going to do any other additional testing. That's what happened to a baby I saw in the fetal center, whose family chose even before he was born, a very hands off but pure comfort care approach. We didn't even confirm his heart defect, and then the plan was, if he did better then we would re-look at that a few weeks later, and he did die at a few weeks of age.
Dr. John C. Carey: Anyway, the point being the decision for even no further testing at birth was made on a prenatal basis. So this idea of evaluating the baby, characterizing the problems, and then taking each one as they arise in kind of an iterative way, if you will. But one of the big ones is evaluating the airway because the reason why 15% of kids still truly die in their first week of life is usually not because of their heart, but usually the heart defects aren't that life threatening at first. The reason is because of their airway issues, and even their brain. All this question of the baby not being able to breathe on his or her own.
Dr. John C. Carey: So the treatment would be if we were going to go forward, let's first characterize everything and then go from there. If this is a minimal heart defect, we know that. If this is a more significant one, if we're going to go intervention, we make a plan but where things tend to go is, does this baby need enough intervention breathing-wise that he or she will have to go home on some kind of support?
Dr. John C. Carey: So, very often what's happening now, especially with prenatal diagnosis, is people are getting a feel for this before the baby's even born, then the baby's born and there's a plan, and are we going to resuscitate him in the delivery room? Yes, we are. Okay, then let's go to the nursery. Let's see where we are, and a few days later, have a care comes. If he's on a ventilator, okay, well, are we going to make a decision to take him off or not.
Dr. John C. Carey: So that's kind of the way it goes, use it as a team approach, and very early, many families well it's already decided quite early, we're not going to do anything. We're going to do everything we can to make him comfortable, be involved in palliative care, and possibly after that hospice care, but we're not going to even, as I said, evaluate his heart defect.
Nate: And how has this changed if at all in recent years? I mean, you mentioned some recent studies and trials perhaps going on. Have treatment options evolved recently? Are there clinical trials currently? Is there anything on the horizon for Patau or for trisomy 13?
Dr. John C. Carey: I think now, what's happening is, there's more prenatal diagnosis, there's even more fetal centers. So that's keeps people going as they are. Most parents now because you know how many people are on the internet, regardless of socio-economic background, so people are connecting prenatally, or soon after birth, on Facebook and with web pages.
Dr. John C. Carey: Now, it may be that I'm in a more sophisticated population, but it doesn't occur anymore, that I see a family in the last few years that hasn't already had some connection with internet and some connection with other families online. That really is different than 10 years ago, or 10 years ago, they might have learned about SOFT or Living with Trisomy 13. Maybe they learned a little lesson. But now there's usually connections, and so there's a very strong presence of Facebook. And on Facebook, there are families who will already be telling these parents prenatally or early postnatally, what their experience has been with their child. And so people are already getting that feeling.
Dr. John C. Carey: So what I'm telling you is that, there are no trails going on, but I am saying that Facebook and what people's interaction is on Facebook, getting a chance to hear from other parents will give them the full side has an influence. And so now, I feel like families, now there are surprises, the last baby with trisomy 13 I saw, they didn't know prenatally, so it was a surprise. But they have already worked this through in the first few days of life but what those interactions are affecting people. So I'm seeing families make decisions, where they kind of are fairly early in the process.
Dr. John C. Carey: That is, like the family I just mentioned they chose not to intervene or have any evaluation. The mother was even a healthcare professional versus another family whose baby I've read, ended up having heart surgery and such, who made the decision months before he was born, that they were going to go as far as they could. It was not going to be a DNR order. If it turned out that cardiac surgery was needed, which it was, they were going to go that route. So you can see what I mean.
Dr. John C. Carey: I think what's changed a little bit from a decade ago, is how much people are informed prior to even birth or soon after birth by other families. Now, as far as trials go, one of the big things would be that in the past, there wasn't as much of a characterization as to what the baby had airway-wise, sometimes system-wise, heart-wise and such. So that is somewhat of a change, if you will, and that's happening because doctors are offering it, parents are choosing it.
Dr. John C. Carey: So once that would occur, I would like to see a study which I actually proposed to do with a rare disease grant. Did you here about the Chan Zuckerberg grants?
Nate: Yeah, I read about those.
Dr. John C. Carey: The initiative. So SOFT put in for one, and we proposed a study where we were going to collect as many babies with trisomy 18 and with trisomy 13, both conditions through birth defect registry like ours here in Utah, Lake California's program which is a very good program, and we were going to collect as many babies over two years as we could, and then follow them completely as to what interventions they had or didn't have? How many chose intervention? How many didn't?
Dr. John C. Carey: We were also going to study parents to see how they perceive their quality of life, especially in the children who were technology dependent. Because there's this kind of assumption in my world, in the world view that most have that we shouldn't be putting these families through this, we should be directing them to know that it's probably in their child's best interest to do nothing because, except for pure comfort care, I don't mean nothing at all, but to non-intervene technology because of the frequent hospitalizations and sometimes, Nate, it's also because as what would bubble up in the conversations is their quality of life related to their disability, and that's where I get my whiskers up.
Dr. John C. Carey: I really understand the view of what our families go through in terms of technology dependency in their kids with serious heart defects, nothing to do with trisomy 13, that will choose no intervention for this exact reason who are otherwise normal kids. So I really understand that but when we get to the area of disability, making a quality life decision based on a disability, something that for me personally, and professionally, I feel we can't make.
Dr. John C. Carey: So when these decisions are being made, about the complexity of medical care, I worry sometimes that I don't want to not have given a family the full picture. I want to make sure I've balanced everything without using these terms but when you get into the disability part I feel like then, rearing a child with a significant developmental disability you really are... If a family chooses that option, they choose that option. It shouldn't be portraying that as pain and suffering, that part as pain and suffering. Anyway, that's my own view I've evolved within this whole picture about disability rights.
Nate: And I guess to finish off, you mentioned, I mean, I think very astutely, that how things have changed with technology, and then the connection that can happen specific to Facebook, but I wanted to see if there were any specific support organizations, patient organizations, or individuals that you might point out or suggest people seek out who receive a diagnosis of trisomy 13?
Dr. John C. Carey: Right. So to me the most straightforward, easy to access and good resource is, trisomy.org, www.trisomy.org, which is the web page of SOFT, Support Organization for Trisomy 18 and 13 because the challenges in 18 are very similar to 13. And that particular group has representatives in every state in the US and many provinces in Canada that can be accessed usually by their email or phone. And on there are many families, many parents who have lost their children, who have even elected to terminate their pregnancy with trisomy 13. That would be available for connection. It's usually, you can check it out yourself, trisomy.org I think, and then the other is that at least in trisomy 13, for me, the leading connecting person in the world is ThereseAnn Seigle.
Dr. John C. Carey: She's in California, and she has a daughter who's 18, and if you google images for trisomy 13, you actually see her daughter. She's on there. She's part of our adult study I mentioned we're doing since she's over 18. But ThereseAnn has done a lot. She's involved in SOFT, she's connected with SOFT. So it's not like they're independent but she's been the captain, the quarterback of the Facebook for trisomy 13. There's more than one Facebook for all these conditions, as you know, being involved in rare disease, but that's the one I think that's the most connected. Well, there's something else called International Trisomy Alliance.
Dr. John C. Carey: So there's SOFT, there's Trisomy 13, Facebook, then there's the International Trisomy Alliance and the mother in Canada who created that her daughter had trisomy 13, and so they again, deal with both conditions, but it's a much more sophisticated website, and they also have a lot of international connections. So that would be the third one, I've would like to mention.
Nate: Thanks so much again to Dr. Carey for his insights. Finally, we spoke with Erin Froehner from the patient organization Hope for Trisomy and a mother of a child afflicted with this disease.
Erin Froehner: Well, yeah, my name is Erin and I'm the executive director for Hope for Trisomy. Basically, I just run everything. I have a few people that help volunteer every now and then. But for the most part, it's just me doing all the things.
Nate: Very good, very good. Well, one of the first things I always like to ask is just speaking from your experience running that organization than any other personal experiences, when I say the words, trisomy 13, or if trisomy 18, what's the first thing that comes to mind?
Erin Froehner: Whenever I hear it, I just picture all the different kids that I know that have had or have trisomy 13 or 18. Even my daughter had trisomy 18. So I just think of all their faces and most of the time they have huge smiles on their faces too. So I just picture them.
Nate: Just tell me about the organization then I guess, I mean, you kind of said you're running everything, running it day-to-day. What is Hope for Trisomy? What are some of the services you guys offer? How do you bring the community together? And things of that sort.
Erin Froehner: Okay, yeah. So we're a nonprofit, obviously. I think the biggest goal is just to raise awareness about a trisomy diagnosis because so many people, when they receive one, they have never heard of it and have no idea what it even means. So raising awareness is the biggest thing but we do also fund research. There's an organization called TRIS, it's Tracking Rare Incidence Syndromes.
Erin Froehner: A lot of their research they do is towards the trisomy direction. So we've been funding to them to help with research. We also, there's another organization called SOFT, it's Support Organization for trisomy, and they hold an annual conference each year for families, just to help them medical-wise and just moral support, things like that, and so we also give money to them to help with the conference that's held annually. But then, some of the day-to-day things that we do is we have care packages for families facing a diagnosis that we send.
Erin Froehner: We help with equipment that's not covered by insurance, because there's lots of therapy equipment and just even day-to-day equipment that's needed with different disabilities that come along with a trisomy diagnosis. So we help with getting some of the equipment they need. We have an annual 5k each year and it's actually coming up next month on March 21st. To help that one, the big goal is just to kind of raise awareness and some funds for running throughout the year, and then we also participate in a local event called North Texas Giving Day. It's a day focused on just raising funds for different nonprofits in the area, and then they have an evening where there's like a concert and all the local nonprofits, they'll come out and have a booth set up just to share with everybody about what they do? So that's kind of in a nutshell all the things we do.
Nate: Well, let's shift gears slightly to talk about patients or families receiving a trisomy diagnosis based on your own personal experience and also working with the organization. What's the most common misconception a family might have when they receive a trisomy diagnosis and what's maybe even often the most unknown thing at that point in time for them?
Erin Froehner: So typically, whenever you receive a diagnosis, you're told by a doctor that the child is incompatible with life. That's the most common phrase that is heard. They're getting, it is improving, it's not as bad as it used to be. But that's pretty much what you hear whenever you get it. I would say really, though, it's definitely not incompatible with life. It can definitely be a life limiting diagnosis, the child is less likely to live into adulthood, but a lot of times with proper medical care they can live longer life than anticipated.
Nate: Well, you mentioned doctors delivering that news and I've heard from other folks that physicians aren't always up-to-date on maybe the advice that they should be giving and maybe I'm not saying that even the right way but I want to ask, what role do primary care physicians kind of play and not just the diagnosis but kind of the ongoing lifespan and experience of a family with this type of diagnosis? And what advice would you give to a family with a trisomy diagnosis in kind of interacting and working with their doctor?
Erin Froehner: Yeah, so it kind of depends on where you are when you get the diagnosis. So if you're pregnant, for instance, then you'll obviously see your doctor, as opposed to when the child's born, they'll see a pediatrician and specialists and things. Typically, though, whenever the child starts seeing a pediatrician, they're usually more supportive and a little less likely to use the term incompatible with life because they're more there to just help the child with whatever they need help with usually.
Erin Froehner: So the incompatible with life usually comes from the OB-GYN or something like that or whatever specialist they might be seeing while pregnant, that really they just kind of see their pediatrician, any other kid would. Usually it is more frequently. Trisomy 18 specifically usually has low birth rate, they usually have to go, at least we did, we had to go weekly for weight checks when my daughter was first born, and then she also, with either trisomy 13, or 18, they do get sick more often.
Erin Froehner: So you're usually going to the doctor more frequently for illnesses, or even just an emergency room for certain things if it's after doctors hours and things like that. But I mean, when you get the diagnosis, it's really scary. Just the thought of the being told that your child's going to die and you're going to outlive your child. But the biggest thing is there really is so much hope that so many people don't give you. If you google it, which Google is getting better, on some of the search results, but when my daughter was born, when you would Google it, it would just tell you 1% live to be a year old, and it's scary thinking that and there really is. There's more hope than that, though because as doctors are starting to treat the things that they need, like heart conditions or things like that, as they actually treat the medical condition, then their quality of life and length of life is actually improving.
Nate: Are there resources that the organization provides to help coach families on questions they should be bringing to their pediatrician or things of that nature? If someone's like, I don't know if I'm getting the right information or the right plans for treatment or plan for lifestyle from my physician, can they turn to you? Should they turn to other families via the organization, via Facebook? How do they manage that?
Erin Froehner: So really the most common way that people figure out what to do or where to go next it's usually through Facebook, with joining a lot of the groups with other people who have been through it, but on our website, we do have a resources page that provides information at different stages. One of whom we do have like a prenatal care guide, it's direct, it's not our guide. There's a link to that's part of SOFT, the Support Organization for Trisomy. One that they raise things like you should be asking your doctor or things to expect, things like that.
Erin Froehner: So we do have that resources link on our page as well though, to help with things like that. It is with a trisomy diagnosis, your child is more likely to develop, for instance, Wilms tumor, and so your child needs to go in regularly to get ultrasounds of the abdomen to check for any tumors developing there. And so it just kind of provides you information or things that you could expect that are a little bit more common when your child has a trisomy.
Nate: I mean, tell me a little bit more about your own personal experience with this disease and your family's experience, what were some of the takeaways, I guess maybe that could become pieces of advice for other families, whether that's related to care options or just optimizing quality of life?
Erin Froehner: Yeah, so our daughter, Addalyn, she had trisomy 18. She was born, we were told she wouldn't live past a month. We were sent home on hospice and just kind of waiting it out for her because we didn't know how or when it was going to happen. But then we got connected on Facebook to other families and realized that there was hope for a trisomy diagnosis, and we started searching for different specialists that were willing to help.
Erin Froehner: We were actually turned away from some saying that they wouldn't even see her with having trisomy 18. So whenever we started finding specialists that did care about her and we're willing to do whatever was needed for her, she actually she did really well. She had a heart surgery when she was six months old. He had an ASE and VSP that need repair, and then she was also born with a cleft lip and cleft palate. So she had those repaired as well. It was after she turned two years old is when we took her in for her cleft palate repair, and she ended up developing complications from the surgery.
Erin Froehner: She developed hypertension and went into heart failure, and so she ended up dying when she was 26 months old. But honestly, her life just brought so much joy to our family, and she was amazing. She still with so many different illnesses and hospitalizations, and things and through everything, she would always laugh and smile, and she just made our life better.
Nate: It's an amazing story. And I guess what I draw from that and I'll ask you is, the best piece of advice that you can offer for someone who receives a diagnosis like this is that there is hope and that there are plenty of other people out who have been through this that are the kind of real boots on the ground, ones who've experienced it that can kind of give you a better perspective on what life can really be like, and also kind of become part of your extended family as you go through it. And for probably the rest of your life here, these organizations, these are people that have had a similar experience and they're people that you'll be connected with, as well.
Erin Froehner: Yeah, absolutely. Because our daughter we're coming up on three years since she passed away and we're still really close friends with lots of people whose kids have different trisomies, so yeah.
Nate: How can people find your organization? What's the website?
Erin Froehner: Ours is hopefortrisomy.org. Then we also have Facebook and Instagram, things like that as well.
Nate: And while I guess we have the audience here, is there, you got the run coming up that's annual, a fundraiser, any other challenges or asks or if someone is looking to get involved in the organization, how can they do so?
Erin Froehner: Yeah, so we're based out of Arlington, Texas. So really any, well, donations obviously are helpful.
Erin Froehner: But if anyone ever wants to help, actually show up and help then it would help for them to be local. But I'm always looking for people to help out with preparing care packages to send out to families, and then getting ready for the annual 5k, as well as working on the day of the 5k to help everything run smoothly.
Nate: Thank you, Erin. In closing, we all find ourselves with a small bit of information like these conversations, and it can only leave us wondering, well what now? So what now, we know that this is just the beginning. So we've taken this information and we've put it all into a free downloadable guide for you at raredisease.com/trisomy13. Please head over there and get your copy of that guide and to connect with us for more help and information.
Nate: If you do need to speak with someone directly about Patau syndrome or trisomy 13 related to your personal situation, we're also here to help. Go to raredisease.com/help and get in touch with us. We are standing by. This is Rare Disease Connection, a production of Aspect Health and raredisease.com.