31 for 21: Forms of Down Syndrome

The most common form of Down syndrome occurs either before or during conception, an "error" in cell division creates three copies of the 21st chromosome instead of the normal two.  Because of the third twenty-first chromosome, it is also known as Trisomy 21 (or T21 for short).  Any chromosome, or part of a chromosome, can be "triplicated" however, most of those "errors", do not allow a baby to make it to birth. Because of this, Trisomy21 is the most common genetic abnormality in live births. About 95% of people living with Down syndrome have T21. 

What many are unaware of is that there are two other forms of Down syndrome. 

1-2% of all people living with Down syndrome have a form called Mosaicism. In this type of Down syndrome the "error"in the separation of the twenty-first chromosome happens after fertilization. This causes the baby to have some cells with the typical amount of forty-six chromosomes and some cells with forty-seven; the extra being in the twenty-first chromosome. Because some cell are unaffected the child's abilities and capabilities may be greater than a child with the other two forms of Down syndrome. However, it depends on the ratio of the forty-six chromosomes to the forty-seven chromosomes.

The third form of Down syndrome is called Translocation. 3-4% of individuals who have Down syndrome have this form of it. Our Vada is one of those individuals. In this form of Down syndrome a piece of the twenty-first chromosome breaks off and reattaches itself elsewhere, usually onto the fourteenth chromosome. Translocation causes every cell to have an extra piece of the twenty-first cell. In Vada's case her extra piece practically reattached itself to its original strand. 


When a child is born with Translocation  it could mean that one of the parents is a carrier of a specific chromosomal material mater. Since I had two children prior to my marriage with Justin we knew that I was not a possibility. Parent who have the arranged chromosomal material will always produce a child who would have Down syndrome. To better prepare ourselves, my husband, Justin, had genetic testing done and after two very long weeks the test showed that he is not a carrier. Therefore the Translocation just happened and we don't mind it all. 


If you are interested the test done to determine what form of Down syndrome an individual has is called Karyotyping.

This is a copy of Vada's Karyotypes. If you look at number 21, her 21st chromosome, you can see that there is an arrow pointing to an empty spot. That's where her third, twenty-first chromosome would be if she had T21. However, that third little booger jumped to its neighbor and is actually sitting on top of what would have been the middle chromosome of the group. If you look carefully you can see that the first, twenty first has only one "dot" and the second has two. That second "dot" is actually Vada's piece or her third, twenty-first. Understand? I tried not to be confusing... When I first looked at these results I thought the arrow meant that since the piece wasn't there that they were saying she didn't have Down syndrome. Low and behold, she just has another form.

The truth is, regardless of what form of Down syndrome Vada may or may not have, her diagnosis is not a negative thing to our family. Vada is an important piece to our family puzzle and without her we would not be whole. She is loved, cherished, honored and respected. Like all children, she is proof of God's perfect works.

To a Friend

Right now someone that I know is about to give birth.

She will be having a baby girl whom she has already given a name to. She knows that her daughter has heart issues and she knows that there is a possibility that her daughter may have down syndrome as well.

My heart is aching remembering my own experiences.

I have been checking in on my friend in almost a stalking manner over the past few hours. I have never met this women but she holds a special place in my heart. Her daughter who is not yet born also has a place there as well.

When I was told that Vada did in fact have Trisomy21 my whole world crumbled. I felt defeated in every way. That was when I was around twenty weeks pregnant and the rest of the pregnancy was the biggest emotional tornado that I have ever experienced. While I am glad that I knew prior to her birth I still wouldn't wish those feelings onto anyone.

I have learned since Vada's birth that having a child who has Down syndrome is not really the hard part. The hard part is dealing with other people and their ignorance's towards Down syndrome. The pain comes from the comments, suggestions, looks and conversations of people who don't know what they are talking about and worse, don't understand the effects of their words.There have been many occasions where I have wrapped Vada in my arms as if guarding her from this ignorance. Its lonely and painful sometimes but its not because she has Down syndrome or because she has caused the pain. Its from society and the way that perfectionism and beauty is portrayed.

Having a child with Down syndrome was not then end of my world it was the beginning of a new and beautiful one. Vada was a gift like any child but with a difference that not everyone can be blessed with. I pray that someday the world will see her as the same and not different in any way.
Now, as I anxiously await for the mention of a new birth I wanted to say just a few things to my friend...

I pray that today when you look into your daughters eyes, regardless of what her diagnosis' may or may not be, that you see God's perfection. If she happens to have Down syndrome, please don't ever let society make it so you don't enjoy her. She will be amazing because she is yours. She will live up to her potential and she will make you proud. She will teach you things you never knew was important and she will bring you joy that you never knew existed. She will change the world, even if it only yours. She will be everything you ever hoped for and more. Today, when you meet her tell her that you love and then tell her again.

The Results

These past {almost} two weeks have been emotional. Two weeks ago on Friday Justin had his Kayrotypes done to see if he was a "balanced parent" meaning the contributing factor to Vada having Trisomy21. Vada having Translocation Trisomy21 means that Justin has a 1 in 4 chance of having a gene that would forever produce children who would have Down syndrome. If I hadn't had children prior to him (who do not have Trisomy21) then I too would be having this test done because mothers can also be a balance parent.

We were suppose to get the results a week ago, but the weather threw everything off and the tests were done a little later than anticipated making the topics of our conversations throughout the two weeks a little uncomfortable.

Justin has been hurting inside and I knew why. He was secretly going through the process of blaming himself, like I had done so many times before. At one point Justin asked me if the test showed that he did have that gene, would I think differently of him. I love my husband and I wouldn't, but my response wouldn't change anything he was feeling now or would be feeling if the results came back that he had the gene. I know because nothing that anyone ever said made me stop searching for answers as to what I personally may have done to cause Vada having Down syndrome.

---Before I go any further, I feel as if I need to clarify the blaming that I am referring to. When I blame myself in general it usually signifies regret . In this situation, I blamed myself and my choices from when I was pregnant. Like the medications, the hormone injections and so on. I always felt that it was something I did or possibly didn't do that caused Vada to have Down syndrome. Eventually, for me, the reason behind the fact didn't matter. In the end what mattered is what I had/have..., and that's her. Vada is not and never was a regret. I would change nothing about her, nor would I ever blame or be angry with my husband if he were in fact considered a balanced parent. How could I be? He helped give her to me.---

With all of that being said we have spent some time discussing the future and our plans for children in the future and have reached no conclusion. However, in our further discussions we will know that Justin while being a good parent he is NOT a balanced parent. Our chances of having another biological child with Down syndrome is very small.

Life Is NOT Disposable

Asking me if I would knowingly have another child who has Down syndrome is like a double edged sword. I have a daughter who has down syndrome and I wouldn't change her having Ds because that is a part of her and I love her. I would never and could ever have an abortion. I know myself and I know I would never forgive myself. Plus, that is a choice that I believe is truly, not mine. Maybe if the question was asked differently, then I could answer it more appropriately.

I am hoping that my writing abilities are at the very least semi comprehensible, that way I am able to write this in an understanding way...

Justin and I have a possibility that together we may always create a child who has Ds. We are not certain if it is a fact yet and are in the process of having genetic testing done to find the answers we need. Due to a recent flaw in my method of birth control we have been forced to make a decision and unfortunately, we cant make a educated choice with out knowing if Justin is a carrying parent for the Trisomy21 gene.

I tried to explain to my OBGYN when I was in her office on Friday about Translocation Trisomy21 (which is the type that little V has). Dr. P. didn't get it at first. Her suggestion was this...,

Dr. P. "You know what you could do..?" She said as she was looking at Vada who was sitting ever so sweetly in her car seat. Her big almond eyes staring towards the Doctors like she could understand what she was saying. "You could get an amnio and if the fetus had Trisomy21 then you could just abort until you have one that doesn't have it." I instantly felt my face warm and I wanted to get up and leave. Is it wrong for me to want a good doctor? One that believes in God. She wouldn't have recite scripture to me, in fact that might creep me out. All I want is one that believes life is at conception and is created by God and has a purpose. Am I naive? I liked this Doctor. I haven't had much time with her, but up until this point she did her job for me just fine. Now, though, I don't know if I can go back, but I don't really want to go looking for yet another new doctor.

I took a deep breath (something I am getting really good at doing), and then I explained that the 1 in 4 chance was Justin's chance on being a carrying parent and not an actual ratio for babies that we could "produce" who have Ds. Then, I did it. I added in what I truly felt and while I did it nicely and held my composure, I didn't sugar coat it. I couldn't, Vada was right there and she may not have understood what it was that I was saying, but I was saying it for her. I told the doctor that I knew Vada had Ds before she was born and that the knowledge didn't matter. I love her no matter what. I told the her that for me and for my personal believes, (to me), abortion was murder and something I couldn't live with. After calmly stating my case she shook her head and said "Okay, then you wouldn't really want to do that then." She accepted what I said and respected it to some degree, there really wasn't much of a response other than that.

I'm wondering what I should do. I'm feeling a trend with doctors lately and I am wondering if something is wrong with me. I complain or have complained about doctors a lot since the beginning of my pregnancy. Are my standards too high? Is there no such thing as a doctor with real morals and christian values anymore? Am I wrong for wanting those things? Should I find a new doctor? Or do I just agree to disagree? After all, isn't it wrong to not accept her for her differences? She did hear me, acknowledge me and then drop the subject once I told her my believes. Is that good enough? Its something that I am praying about.

Why is life so disposable to people? I don't understand how anyone could throw that option around so easily and actually live with themselves. I'm sorry, I just cant. No, I wont.

What about those poor women and even girls who are offered this option but are never told the other side? Who is going to help them when they are hurting because of their choice? Or worse, what about the ones who get pregnant over and over and use abortion as a means of birth control. It makes me sick. That visit made me sick and has left a fowl taste in my mouth and a longing to never let Vada go. The realization is setting in that there are people in this world who would not have made the same choice that I made in keeping Vada and those who look at Vada now, in her beautiful baby flesh and don't see her as a real person who has a place in this world and who carries an over abundance of value. Its sad.

So, back to the original question..., Would I knowingly have another child who has Ds? Yes and no. If Justin is a carrying parent then we have decided that he will probably have a hysterectomy since it is a less invasive procedure for him. That decision is not final but it will be something that we will look further into if needed. It's hard to give a definite answer. I love children and I would someday like to have a son or another daughter, but i am not in a place to really begin planning for another addition in our family. With that being said, I would undoubtedly adopt a child who has Ds or even another disability and I would love him or her as my own if we did decide to not have any more biological children.

Location, Location

As most of you know Vada and I met with the Geneticist; Dr. Hoganson, yesterday. We had gone to see him because originally they thought that Vada had a condition called Methalmalomic Acid Anemia. Turns out she us has low B12, which is great, especially compared to the MMA. The low B12 is treatable.

Prior to this appointment we had gave gave Vada a weeks worth of daily B12 injections. Then they re-tested her levels and her B12 sky rocketed. So, now we are just going to monitor those levels to make sure she is doing alright. We also put her on Poly Vi Sol, which is a daily vitamin.

We kept our appointment with Dr H. just to be able to discuss any concerns or any other findings he may have had. The whole visit was quick and easy.

We also discussed my lab work that was done the week prior to this visit because we were concerned that I may have very low levels of B12 which was in return causing Vada to have the low levels. Turns out my B12 levels are low, but not too low. I also have low iron and my Thyroid is low as well. I wasn't really surprised since I have been mildly anemic since before my pregnancy with Vada and I have had Hypothyroidism since the birth of Kiliegh. All I need to do is take a better daily vitamin and bump up my Thyroid medications.

Before we left our meeting with Dr. H. I asked for a copy of Vada's Karyotypes. His staff said that they would look into it and get back to me on it.

What does having a copy of Vada's Karyotypes mean? Nothing, except I would be able to see the third, twenty-first chromosome! I don't need proof that Vada has Down syndrome, that's not why I asked for my own copies. I asked for them because the opportunity to see your own child's Karyotypes does not often come up. Most people will never have this chance, which is fine, but since I am in a situation where I can see them, I'm going to do so. Carpe diem!

After meeting with Dr H. we had to wait two hours before we met with Dr. Jennings, the Neurologist.

The visit with Dr. J. also went smoothly. No surprises, no real concerns. Everything is pretty much staying the same. We are continuing to wean Vada off of the ACTH and if everything goes well she should be off by mid November. We are changing her "maintenance" medication from Keppra to Topamax. She HATES the Keppra, it's incredibly hard to get her to keep it in her mouth let alone to swallow it. Were hoping that this new kind will be better for her to take. That in return would be better for me. It is so stressful knowing that these medications are her life line. If she doesn't take them the seizure will can come back and will take over. If I cant get here to take them, then it's my fault. Irrational or not, that's how I feel.

So the appointments were yesterday. Earlier this morning Dr. H's assistant called me to let me know on the progress of getting the copy of Vada's Karyotypes. She said something about them being archived and that it may take a couple of weeks to receive them. She also said that I needed to directly contact the hospital to sign release forms. No big deal.

The next thing she said was very unexpected. She asked if I was aware that Vada has Translocation Trisomy21. At first my heart started to race. At first I was confusing Translocation with Mosacisim . I knew what both were, I just got swept away for a second.

I was not aware that this was Vada's full diagnosis; Translocation Down syndrome. In all honesty, it doesn't mean anything different for Vada. Just an extra word to add on to one of her diagnosis.

For us, Justin and I, it could mean that every child we have from here on out would have Down syndrome. That would be, if one of us were in fact a "balanced parent". There is something like a 1 in 4 chance for that to be our situation, so for "piece of mind" she suggested that if we planned on having more children in the future, we should get genetic testing done.