Chromosome 21q Partial Deletion Syndrome

"What?"

I have thrown this title out to you before and given you the general description. Maybe I should try to explain exactly what we have learned about chromosome 21q partial deletion syndrome and symptoms of Ivey's genetic disposition.

When Matt heard this term, he said exactly what you thought. "What?" Keep in mind, Matt was a business major at Georgia. He remains calm and takes in everything.

When I heard this term, my mind went reeling in a completely different direction. I instantly threw myself back into my Genetics class and Medical Terminology, trying to recall pages of genetic syndromes and locate prefixes, suffixes and rootwords. I have found myself doing this very same thing on numerous occasions throughout this journey with Ivey. I have discovered that my background has been both beneficial and almost lethal at times.

My major was Biology with a minor in Chemistry. Somewhere along the way, I tacked on a teaching certificate because I wanted others to love Biology as much as I do. I know it is a scary thought. You’re looking at a girl who moved a bug collection when she got married. I always spent extra time on Genetics when I was teaching. It is my favorite area. I had students doing Punnett squares until they could see them in their sleep. We did labs where they 'reproduced' and determined the phenotypes of their children. (What their kids might look like.) We studied genotypes. (Their genetic makeup.) Be certain that much explanation went into these labs, so that parents did NOT get the wrong idea. I have missed teaching, labs and my subject. But now, all of a sudden, I have been studying my 'subject' unlike I ever did in college or in preparation for my students.

It has been most frustrating to speak with doctor after doctor, and none are able to give us a specific expectancy for Ivey. They can explain the known symptoms of her syndrome; unfortunately, there is more that is unknown. Unknown is okay. The scientist in me knows, "That's just how it is". This is a positive attribute. The mom in me wants answers and NOW. While we were still in the NICU, Matt told me one day as I was going to see Ivey, "You have to lay off of Dr. Laura today". I had no idea what he was talking about. Now, I know. Everyday that she walked in the room, I started asking questions. She would answer me. I would ask the same question, this time in a different format. She would answer me again. This went on and on. I thought that eventually I would ask the same question, in a different way, until she gave me the answer I wanted. I needed her to tell me something different from what I learned. I feel sorry for our pediatrician, Dr. Rogers; I still do this to him on a weekly basis. I just can't help it.

I see that I am rambling here. Sorry.

There are so many things I could tell you about Ivey. First, I want to tell you what we have learned about her syndrome. Throughout this journey, I have searched for information about her. I want to understand and know how to plan our path with her. There is almost no information available about this specific diagnosis; however, I can find information about individual symptoms of her syndrome. Ivey's syndrome is so very rare.

When we met with the Geneticist, I asked her for the case study on children that have been documented with a chromosome 21q partial deletion. She was very skeptical about giving me a copy since each case is so specific to the individual. No one baby has had the exact same symptoms with this particular syndrome. She did not want us to assume the worst fate for our daughter. Even with the most common genetic abnormalities, this should be a standard practice by doctors. Each case is unique. Expectations verses the actual reality of a genetic disability are two completely separate issues. If you have met someone with a more common genetic syndrome such as Downs Syndrome, then you know there are varying levels of 'retardation'. If you have children, you understand this. Do any of your children look exactly alike, even though they come from the same genetic pool? Or, do you look exactly like any of your siblings? No.

Ivey is unique to her syndrome. For example, all children that we know of with this particular syndrome have malformations of their brains. Ivey does not have these malformations, her brain has all of its parts and they are formed. (As far a we can tell.) Genetically, she has the information for her brain to be there. There is no way to know why she is an exception. There is also no means to know if she will have a better outcome from that of other babies with chromosome 21q partial deletion syndrome. Our geneticist did the right thing; she did not give me the case study. We do not have a pre-determined notion for the worst or best outcome for Ivey.

My goal, outside of raising three incredible children, is to help other parents with children who have fallen - no, risen - to this syndrome. Maybe there is an underlying purpose to my passion after all. I can teach again. Our family can be a wealth of information to other families enduring this same fate. I want to be an advocate for Ivey and other families embarking in life with a rare special needs child.

Just as importantly, I want our family and friends to understand Ivey. Isn't there a quote that says something about fearing what you don't understand? I know our family and friends would never 'fear' Ivey, but realistically, there is a 'fearful' emotion that sweeps through you if you have questions or doubts.

At this moment, Ivey's physical challenges are more apparent. Most children have not been exposed to feeding tubes, apnea monitors, cleft lips or conformers. They want to know about things they see that are different. I would too if I didn't know what they were. Down the road, Ivey’s mental challenges may be more apparent. We will not know the extent. My hopes are to help educate family and friends about Ivey's condition also. If our children ask questions, we will have the knowledge to answer them frankly and honestly.

I live with two toddlers who are Curious Georges. Children are very observant and love to ask questions, don't ever discourage that drive in them. I can't remember if I ever posted this, but Knox made a great observation about Ivey once he saw her in the NICU. He curtly said, "Mommy, Ivey needs another hole in her nose. I am going to tell the doctor to fix it". And that is exactly what he did. With Ivey's cleft lip, her nostril is pulled flat, thus only one hole in her nose. For my friends, if your children ask questions don't ever feel embarrassed or give them 'the look'! Encourage them to ask more questions! Children tend to be more accepting than adults. Let them become comfortable and knowledgeable of Ivey and her condition. These babies will grow-up with Knox, Walker, and Ivey. I want them to understand and accept Ivey and respect the life that Knox and Walker lead.

So, get your thinking caps on, in the next few updates we will begin lessons on chromosome 21q partial deletion syndrome. I will not jump ahead and assume you remember everything from your last Biology class. We will have a little review. It's an open forum. Questions are encouraged. If you have a question, more than likely someone else has the same unanswered question. Hopefully, if you know anyone who has a genetic challenge, especially chromosome 21q partial deletion, you will pass this along.

Gwen

Our family has been very blessed to have a child with a challenge. God is watching over us. Like I have said before, it was FAITH meeting FATE the day Ivey was born. How special our family must be in His eyes. How many of us get the chance to truly test our Faith?