FAQs

Since finding out about Wes’s diagnosis we have been asked numerous questions about the diagnosis, his health, our feelings and his future. Feel free to ask us any questions, whether they sound “stupid” or not.  I just ask that the questions be done with the best integrity and sensitivity you would expect to be given to you.

How did you and John first find out that Wes was positive for Down syndrome?

Black Friday of 2011 I received a call from my paranatologist’s office with the instructions to contact them as soon as possible. I remember my doctor telling me that they would call regardless of the news, so I basically blew off calling them back due to my own ignorance that there would be any bad news, and after Friday I just plainly forgot. That Monday I received another call to contact the office back which I promptly did… Tuesday, November 29th. I honestly just thought it was routine call and thought nothing of it. When I called back and spoke to the nurse, she informed me that my blood results from my sequential screening came back abnormal for Down syndrome and that I needed to make an appointment immediately with the genetics counselor to discuss my options of having an amniocentesis. The conversation was so rushed that I basically froze in shock not knowing what to ask her. Immediately off the phone I broke down crying, literally sobbing that something might be wrong with my baby.  I texted John to call immediately because something might be wrong with out child and then I of course called my mom.  Instantly my mom became angry; not angry with the possible diagnosis, but angry with the nurse calling me resulting in my panic. I then called my sister who told me to contact the office back to see what the chances were for my baby to be born with Down syndrome. It was over an hour later before I heard back from the doctor’s office when they told me the signs for Cerebral Palsy and T18 were 1:8,000 and 1:10,000 respectively. Chances of Down syndrom, 1:24. I just froze. 

Thursday, December 1st John and I had our appointment with the genetics counselor and our sonogram. By that time, we were all “studied up” on Down syndrome and what the doctors look for when making their diagnosis.  In all honesty, we were ecstatic to find out the baby’s gender a whole 2 weeks earlier than planned which put the diagnosis on the back burner for a bit. In the car on the way down I asked John what he thought we would have. We both agreed a boy, though I was positive we were having a girl from the start. We even gave him a name, Wes, not Wesley, but Wes if in fact he were a boy.  Once we arrived, we waiting what seemed like over an hour for the Skype conversation with the genetics counselor. I instantly said, “I do not care if our child has Down syndrome, so an amnio is unnecessary”.  {I was, as we say, “Chicken shit” and absolutely terrified of a foot long needle into my abdomen that could potentially harm my child. } She showed me my hormone levels which were all between .4 and .6 respectively. For a typical pregnancy all of my levels would have been around a 1.  Our appointment lasted about an hour and we left the conference feeling confident that regardless, we will be fine.

We were then led into a room to see Alpa, our technician. I specifically requested Alpa because I remember how the other tech was at our first

My gosh, it's a penis!

sonogram and for the sonogram for my sister’s children. Let’s just say the “other one” had no bedside manners and I think I would have strangled her this day if she were our tech. Alpa instantly gave us the news that we were expecting a boy, which John promptly gave a “YES!” to. {And he said he didn’t care.}  But then we noticed something… we were in the room forever. I began to see things; a shiny star on his heart, fluid in his kidneys, many, many measurements being taken by our tech. I just looked at John and he looked back at me.  Smiles hidden by fear.

After 45 minutes, Alpa left and Dr. Donnenfeld entered almost immediately. Before he could even sit down he said, “I’m sorry to tell you this, but I am fairly positive that your child has Down syndrome.”

We sobbed and reassured one another that we will be alright. We stated over and over again that he was ours no matter what. {Wes began to kick me at 18 weeks, he was not going to be tossed away by any means.}

The next several minutes were a blur. I asked, “What are our chances?” He responded generously, 1:4. During this time he showed us the several soft markers that lead to his suspicions and then spoke with us about performing an amniocentesis another day since we were too upset. We agreed.

John and I left the room in complete and utter shock. Our eyes glassy with fear, disbelief and anguish, and blood shot as if sandpaper was scored in every crease.  In our car we cried some more as John told me that I needed to go through with the procedure. Though we are very good at making decisions together, I knew that there was no other choice; we needed to know. I called my mom and sister and explained what had just transpired and they both felt the pain I was feeling. I was mourning the loss of the child I though I was going to have and scared of the health of the child I now knew as mine.

 

Not exactly the picture you hope to leave with when you hear your child is T21+ {kinda frightening}

At this point is when I became a full-fledged adult; 7pm to be exact. I knew instantly that I would have to protect and fight for this child. At that moment I selflessly made the decision to have a rather long, somewhat painful needle in my body for nearly 2 minutes while remaining perfectly calm so my very active son would not move. The doctor said that he would put a rush order on our results and that we would hear from him on Monday. When asked if he could call earlier in the day if the news were good, John quickly said, “No, because if we don’t hear from you, we will be even more worried. Could you please call after 4?”  As payment for my selflessness, I was treated to a lovely dinner at The Olive Garden. Did I mention I love my husband?

Monday, December 5th 5pm. No news from either the genetics counselor or Dr. Donnenfeld. Every time we would call the office, we would get messages to call during their normal working hours. We were starting to lose it. Finally I was able to get on the phone with a random genetics counselor while John received a call from Dr. Donnenfeld. The news was given in stereo, both experts stating the facts that Wes has Down syndrome.

This time, less melodrama and more peace.  Peace with ourselves, peace with our son, peace with our decision to love him unconditionally. Though we knew there would occasionally be concerns, we knew that we are more than capable of being loving and doting parents to any child.

Why did you decide to keep Wes when you found out about his diagnosis?

He’s my son; why would I ever give up my son?  Though I am not a person who preaches religion, etc. I do believe that we are giving things in life that we can handle. I have been through a lot as a child and teen from the divorce of parents to the horrific and untimely loss of my brother. Though these experiences may leave a different taste of life with others, they only made me stronger. My family is so close and so strong that if termination was even a consideration of mine, they would surely revolt. We are a family full of love, respect and openness. Besides, we are so diverse in many ways that a “typical” person would be odd.

If you knew you would keep your baby no matter what, why would you even consider doing the sequential screening?

My viewpoint is that I wanted to be prepared for whatever life gave us. I saw the sequential screening as a great tool; in no way did I see it as a way to make a decision whether I’d keep my baby or not. That was not even a consideration in my mind. Honestly, I am annoyed with those who scoff at the idea of prescreening because they automatically assume that the reason it is being done is to terminate an undesirable child. I have to admit, I am a bit naive and would never think of the negative purpose for the screening and I’m saddened that it is used for that purpose. However, just because a person decides on the screening doesn’t mean that they are ill-intended. I looked at it as a gift for me to be able to prepare for any “surprises” that would occur and do the best for my son. What if Wes had a heart problem and I didn’t know about it until he was born? I would have been destroyed and not be prepared mentally and emotionally for that news on top of finding out that he had Down syndrome as well. Everyone makes their own choice, and I am supportive of what you decided to do (with the exception of termination – sorry to be blunt) when it comes to preparing for the birth of your baby.  Prescreening allowed me to grieve, become connected with Ds mommas, and mentally prepare myself to support his needs. Those things can be difficult to do when you’re taking care of an infant and potentially other children. 

Does Down syndrome run in your family?

Nope, Wes was  genetic fluke just like my sister’s identical twins. It just happens sometimes. The chances of having a baby with Down syndrome at my age when I became pregnant was about 1:1,200My sister’s chances of having identical twins at her age was 1:250, though identical is just a fluke and has nothing to do with the number of eggs released.

What are your chances of having another baby with Down syndrome?

Actually, not much higher. It’s only a 1% increase on top of the the closer ratio as I age.

Are you afraid that you will have a child with Down syndrome again?

Not at all. I really look forward to meeting Wes and having siblings for him.  However, there are certain disorders that frighten me such as Autism Spectrum Disorder and behavior disorders because I would honestly be saddened if my child was unable to love me as much as I love him or her back. {This is a generalization, I know.} I give these parents a lot of credit because I am sure it is hard. See, I’m not a saint, I have fears too.

Is the reason you are against termination a religious/ political belief?

Nope, not at all. As stated above, we are giving things in life that we can handle.  Do I have faith? Yes. Do I have religion? Technically yes, and I entirely appreciate and respect all (non-celebrity endorsed) religions, but I personally do not need to know verses from a bible, go to church or pray to feel fulfilled. I am just different; trees, flowers, a sunrise, or a rainy day… that’s my God. That is where I find signs in life that tell me I’ve made the right or wrong choice. So, if you see me ever write, “send positive juju/ vibes” it’s my version of praying. Politically, I am very independent and  tend to have differing views that border both republican and democratic values. I cannot identify myself wholly with one group or another, and I’m okay with that. I tend to vote for whoever I most agree with morally.

Speaking along the lines of morality, please consider adoption over termination. There are many people out there who would love your child regardless of diagnosis. Believe it or not, 92% of mothers of babies with Down syndrome terminate their child… between 18-22-ish weeks pregnant. My Wes was kicking me at 18 weeks and responding to me.  Please, if you ever consider terminating your baby, talk to moms who have children with Down syndrome. All I ever hear is how lovely and joyous their lives have been and I cannot wait for him to arrive.

Question from a 6th grade student:  Are you afraid that Wes will be made fun of in school?

Yes, unfortunately I am faced with that fear. Because of this, I make it a point to educate children and adults alike about Down syndrome and

The picture that connected us with our son.

to not fear those with disabilities.  I am even very open with the children at my school about Wes and how he is more like everyone else than it seems. This year I will be doing a slight fundraiser for our school’s Special Olympics on March 21st (represents Trisomy 21). It’s a small step towards bigger opportunities to raise money and awareness for the Down syndrome community. 

Please view the following video about Bethany One Year Down This Path

Are you sure that your son has Down syndrome?

Yes, positive. {This is something you do not want to ask a mother of a child with a disability, though in this FAQ I am happy to share openly} I was tested 4 times.

Test 1: Optional sequential screening blood work to measure pregnancy-associated plasma protein (PAPP-A) and human chorionic gonadotropin (hCG) and a sonogram to measure the nuchal translucency (NT) on the back of Wes’s neck.

Test 2: Second blood drawl to measure Alpha-fetoprotein (AFP), hCG, unconjugated estriol (uE3) and dimeric Inhibin-A in my blood.

Test 3: Genetics counseling provided followed by sonogram to check for soft markers including: {I highlighted those positively identified in Wes}

1. Brain cysts
2. Shorter thigh
3. Shorter upper-arm bones
4. Reduced femus to humerus ratio (upper arm to thigh bone ratio)
5. Splayed toes – enlarged gap between big toe and next toe – may be seen on a Down Syndrome pregnancy ultrasound.
6. Bright spots on the bowel, or a bright bowel (echogenic bowel pattern), or anything that suggests a gastrointestinal defect, such as duodenal atresia (double bubble), in the ultrasound.
7. Bright spots on the heart, or any sign of a heart defect in the ultrasound
8. High fluid levels in the kidneys, as suggested by pyelectasis, a dilation – enlargement – of the kidneys

Test 4: Amniocentesis was performed”which takes a small amount of amniotic fluid containing fetal tissues from the amniotic sac and the fetal DNA is examined for genetic abnormalities” (Wikipedia, of course) This is typically done without a topical anesthetic and feels like a menstrual cramp. Yes, it is a long and scary needle, but as a mom you will be okay if this is something you will ever need to do. It is amazing what you will do for your child. This took approximately 2 minutes in my case. Typically, amniocentesis’ take about 30 seconds.

Test 5: After positive results:  Neonatologist appointment to check Wes’s heart. Good news, no holes and a strong heart! This is a positive sign that Wes may not need OHS (open heart surgery).

Simple Run Down

Test 1 & 2 gave us a 1:24 chance

Test 3 gave us a 1:4 chance

Test 4 gave us a 100% chance in Wes having Down syndrome

Test 5 was performed as a result of test 4: 99% healthy heart and proof that Wes is feisty and stubborn!

If I find out that someone is pregnant with a child with Down syndrome, or any other differing ability, what should I say to them?

Here are a few comments to avoid, though they may sound innocent enough:

  • “I am so sorry! That’s awful news!” {followed by a big hug and saddened expression}
  • “Are you keeping it?” {It, really!? Come on folks!}
  • “Are you sure? Tests aren’t always right.” “I have this friend that was told twenty years ago that she was having a child with {insert diagnosis} and the child was born perfectly normal!”  {Screw you and your apparent “knowledge” of genetic testing!}
  • “I give you credit for keeping it, If I were {insert age}, I would probably abort.” {Really?! –insert expletive}

 

Here are some great comments!

  • “Yeah, I am so happy for you!  I would love to know more about {fill in diagnosis} when you have the time.”
  • “I am so glad to hear that you’re expecting! How are you and daddy feeling with all of this excitement?”
  • “Congratulations! This is going to be a great adventure for you!”

 

Remember, these parents are still in the processing stage and are very sensitive to all comments, so if you feel uncomfortable saying anything, it’s best not to say anything at all right now. I’m sure that if you are close enough to the person, you will say something perfect and appropriate. Even if it isn’t perfect, at least they will understand your intent.

Also keep in mind that these parents are processing a lot, such as finding support groups, figuring out what OT, PT, ST, OHS, etc. mean as well any other concerns they would deal with during a typical pregnancy. If you have a number, email, website or something to share with these parents regarding the diagnosis of their child, please don’t be offended if they don’t follow through. Personally, I limit my exposure within the Down syndrome community because it can become overwhelming. And just because two people have a child with the same diagnosis, doesn’t mean that it’s instant friendship or a connection.

 

What do you expect your son to achieve?

I have all the same dreams for my child as any other parent, but at the same time I am very realistic and understand that Wes will most likely not be a nuclear physicists, neurosurgeon, or a paleontologist – but I will never be that either, so who cares? What I do know is that my son can love. My son will be able to communicate with me and others. My son will have dreams and aspirations just like you and me. Heck, if he wants to be a chef, I am sending him to the best school that he can get into. I will peak his interests at home and provide him all the education he needs so that he can reach his potential. What {good} parent wouldn’t do that for their child?  So, when asked this question, I just respond that he will choose his path and as long as I support and encourage him, he will reach the potential for himself. All children, differing abilities or not, achieve at different levels. Hey, I repeated the same Algebra class 3 times in high school and received a pity pass my senior year. I’m no genius,  and chances are, neither are you. 

Here are some inspiring adults with Down syndrome:  We’re More Alike Than Different

Warning

The following information is disturbing and I am not posting it to sicken you or make you feel upset on purpose, but I know that there are people who will be curious.  I was curious, and of course, bothered beyond belief by this. I borrowed the information below from http://downbloggers.blogspot.com/ which I stumbled across on a Down syndrome page on Facebook. There are no pictures, your imagination is enough.

Again, please do not read the following information if it is too much for you.  I just think that it’s important to include for anyone who has ever debated terminating a pregnancy. This is and will always be the last entry on this page, so if you want to stop here, by all means do.

As mentioned before, 92% of mothers who are aware that they are having a baby with Down syndrome terminate their pregnancy. The following transcript is from 2000 Supreme Court testimony of doctors performing late term abortions, Dilation and Evacuation (D&E) {which is also used in cases of natural miscarriage}.

Question: Are there times when you don’t remove the fetus intact?

Carhart: Yes, sir.

Question: Can you tell me about that, when that occurs?

Carhart: That occurs when the tissue fragments, or frequently when you rupture the membranes, an arm will spontaneously prolapse through the oz. I think most…statistically the most common presentation, we talk about the forehead or the skull being first. We talked about the feet being first, but I think in probably the great majority of terminations, it’s what they world call a transverse lie, so really you’re looking at a side profile of a curved fetus. When the patient…the uterus is already starting to contract and they are starting to miscarry, when you rupture the waters, usually something prolapses through the uterine, through the cervical os, not always, but very often an extremity will.

Question: What do you do then?

Carhart: My normal course would be to dismember that extremity and then go back and try to take the fetus out either foot or skull first, whatever end I can get to first.

Question: How do you go about dismembering that extremity?

Carhart: Just traction and rotation, grasping the portion that you can get a hold of which would be usually somewhere up the shaft of the exposed portion of the fetus, pulling down on it through the os, using the internal os as your counter-traction and rotating to dismember the shoulder or the hip or whatever it would be. Sometimes you will get one leg and you can’t get the other leg out.

Question: In that situation, are you, when you pull on the arm and remove it, is the fetus still alive?

Carhart: Yes.

Question: In that situation, are you, when you pull on the arm and remove it, is the fetus still alive?

Carhart: Yes

Question: Do you consider an arm, for example, to be a substantial portion of the fetus?

Carhart: In the way I read it, I think if I lost my arm, that would be a substantial loss to me. I think I would have to interpret it that way.

Question: And then what happens next after you remove the arm? You then try to remove the rest of the fetus?

Carhart: Then I would go back and attempt to either bring the feet down or bring the skull down, or even sometimes you bring the other arm down and remove that also and then get the feet down.

Question: At what point is the fetus…does the fetus die during that process?

Carhart: I don’t really know. I know that the fetus is alive during the process most of the time because I can see fetal heartbeat on the ultrasound.

The Court: Counsel, for what it’s worth, it still is unclear to me with regard to the intact D&E when fetal demise occurs.

Question: Okay, I will try to clarify that. In the procedure of an intact D&E where you would start foot first, with the situation where the fetus is presented feet first, tell me how you are able to get the feet out first.

Carhart: Under ultrasound, you can see the extremities. You know what is what. You know what the foot is, you know, what the arm is, you know, what the skull is. By grabbing the feet and pulling down on it or by grabbing a knee and pulling down on it, usually you can get one leg out, get the other leg out and bring the fetus out. I don’t know where this…all the controversy about rotating the fetus comes from. I don’t attempt to do that. I just attempt to bring out whatever is the proximal portion of the fetus.

Question: At the time that you bring out the feet in this example, is the fetus still alive?

Carhart: Yes.

Question: Then what’s the next step you do?

Carhart: I didn’t mention it. I should. I usually attempt to grasp the cord first and divide the cord, if I can do that.

Question: What is the cord?

Carhart: The cord is the structure that transports the blood, both arterial and venous, from the fetus to the back to the fetus, and it gives the fetus its only source of oxygen, so that if you can divide the cord, the fetus will eventually die, but whether this takes five minutes or fifteen minutes and when that occurs, I don’t think anyone really knows.

Question: Are there situations where you don’t divide the cord?

Carhart: There are situations when I can’t.

Question: What are those?

Carhart: I just can’t get to the cord. It’s either high above the fetus and structures where you can’t reach up that far. The instruments are only 11 inches long.

Question: Let’s take the situation where you haven’t divided the cord because you couldn’t, and you have begun to remove a living fetus feet first. What happens next after you have gotten the feet removed?

Carhart: We remove the feet and continue with traction on the feet until the abdomen and the thorax came through the cavity. At that point, I would try … you have to bring the shoulders down, but you can get enough of them outside, you can do this with your finger outside of the uterus, and then at that point the fetal … the base of the fetal skull is usually in the cervical canal.

Question: What do you do next?

Carhart: And you can reach that, and that’s where you would rupture the fetal skull to some extent and aspirate the contents out.

Question: At what point in that process does fetal demise occur between initial remove…removal of the feet or legs and the crushing of the skull, or I’m sorry, the decompressing of the skull?

Carhart: Well, you know, again, this is where I’m not sure what fetal demise is. I mean, I honestly have to share your concern, your Honor. You can remove the cranial contents and the fetus will still have a heartbeat for several seconds or several minutes, so is the fetus alive? I would have to say probably, although I don’t think it has any brain function, so it’s brain dead at that point.

Question: So the brain death might occur when you begin suctioning out of the cranium?

Carhart: I think brain death would occur because the suctioning to remove contents is only two or three seconds, so somewhere in that period of time, obviously not when you penetrate the skull, because people get shot in the head and the don’t die immediately from that, if they are going to die at all, so that probably is not sufficient to kill the fetus, but I think removing the brain contents eventually will.


4 thoughts on “FAQs

  1. This is such an amazing post and you haven’t even MET him yet! I didn’t meet John Michael or know about his Ds until birth. Your attitude toward Wes is so refreshing and you’ve certainly done a lot of homework in advance. I did all those things as soon as we were home from the hospital. Can’t wait to “meet” him online. 🙂

  2. DS Class of 2008 says:

    Thanks. Keep adding any key FAQs you feel necessary, this post is great!

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