my little mutant

i have tried to write this post several times. each time i find it difficult to type. once everyone knows there is no backing out. not that it would go away if i didn't tell, but if no one knew then i could pretend it wasn't there. acceptance is hard and the more people that know the more i have to accept.
anyway, enough drama.
Emmeline has been diagnosed. after a year of people trying to figure out what might have been causing all of these complications for her they have finally figured it out.
She has CHARGE syndrome.

this article is the most accurate info the medical community has on CHARGE right now. it is a bit technical.

this is the link to the national CHARGE foundation. it has all kinds of info on it that is easier to understand.

Texas happens to be the only state in the US that has a state CHARGE group. here is their website.

they ruled this out in the hospital last fall because she didn't have enough of the major markers but her geneticist finally decided we couldn't rule it out without running the genetic test. now, for those if you who might read about this test. you can have CHARGE without the genetic mutation but you can't have the mutation without having CHARGE. Anyway, she has the mutation.

i have added below a portion of an email her geneticist sent o me about CHARGE and the specifics in regard to emmeline.

Some of the symptoms of CHARGE such as colobomas of the eye, heart defects, tracheoesophageal fistulas (which a hole connecting the airway to the digestive tract), and ear differences occur early in development. If these are not present at birth, then they will not occur in that individual. Other symptoms such as delayed puberty, delayed milestones, and short stature are symptoms that develop over time. These are things we should be watching for and treating if they develop. As you are aware, Emmaline does have choanal atresia, mild-moderate hearing loss, and some motor delay. You are doing all the things we would recommend as treatment for these concerns.

As for the developmental/psychological concerns with CHARGE syndrome, it is difficult to predict at this early age how Emmaline will do developmentally. We know that children with CHARGE typically have delays in motor development that result in delays in walking. Children and adults with CHARGE range in their learning abilities. Despite delays early in life, studies suggest that approximately 50% of individuals with CHARGE have learning that is normal. However, Emmaline has some things working in her favor and other things complicating her development. Emmaline is lacking many of the birth defects that keep other children with CHARGE in the hospital and immobile for long times. She does not have visual impairment or severe hearing loss which can contribute to delays and struggles with learning. Predicting her developmental future is complicated by the prenatal stroke she had, which is unrelated the CHARGE syndrome. Overall, Emmaline will have to show us how she is going to develop and learn. To help her, we can keep a close eye of her development/learning and get her help as soon as she shows any signs of struggling. At this point, that means having her development followed by early intervention services.

To understand the genetics of CHARGE syndrome, it is important to understand that a person has two copies of each gene. Genes are instructions that tell our bodies how to make the equipment our body needs to grow and develop. In most cases, a gene will be instructions for a particular protein. Changes or mutations in a copy of gene can cause that protein not to work and the body to grow and develop differently. Many different changes in the CHD7 gene have been associated with the signs and symptoms of CHARGE syndrome. Emmaline’s gene change has been seen in others with CHARGE syndrome.

Emmaline’s gene change is called R2653X or ARG2653TER. When naming a gene change, scientists include the location of the change and what is changed about the gene. In Emmaline’s case, her change is at the 2653 letter in the gene. If there wasn’t this change, the next building block in the protein at the 2653 place would be an arginine (abbreviated R or ARG). Instead, the change causes no more building blocks to be added the protein. We call this early termination of a protein, abbreviated X or TER. As a consequence, the CHD7 protein is not completed and does not function normally. Three other individuals with this gene change have been reported in a paper discussing a number of different gene changes. These other individuals with the same change were not described in detail. However, they must have had one or two major characteristics and several minor characteristics of CHARGE to be included in the study. At this time, we do not know enough about Emmaline’s change to give you specific information about how this change will affect her. As time goes by, we will continue to monitor what is published in the literature and provide you with any specific information that is discovered.

so overall, we will have to wait and see if she develops any of the other symptoms and how they will affect her through her life. it seems to be a syndrome where you treat things as they come but there isn't really any way to prevent things. as a side note, there aren't any other documented cases of someone with CHARGE also having a stroke.

so, welcome to our waiting game.


Matthew said...

Thanks for sending out that information. It's good to know what's going on. Did they include any research that would account for the cuteness of her squishy little cheeks?

Megan said...

oddly those too show up on kids with CHARGE quite frequently.

Matthew said...

How are things going with her eating?

Megan said...

not so hot i'm afraid.

Whitney said...

Oh Megan. I'm so sorry. You seem to have a long road ahead of you. We love you!!! and are praying for you!

ellen charge said...

megan welcoe to wat i call the charge blogging world im sure yu know me from the lsit serve but again its me ellen ad im a charger 24 years old sydney aus if you click on my name you will see my blog and on the side you will see many chargers and on there sides many more a great place to start is eva or kenedy as they have alot jsut explore and you will find my charge bliog family whiom i follow mostdays and now aim to add em and you to that fam love you lots and can you send this link to the list serve theyll love it

Brittany H. said...

Wow. It sounds so intricate and vague at the same time. I know little Em is with the best family ever, who will love her no matter what and take care of her every need. My heart is with you guys!

Lisa W. said...

Megan, just wanted to give a shout out. I remember you posting on the CHARGE list about Emmaline. My daughter Kennedy was born 11 years ago and is now doing very well. The first years were definitely the roughest. It took Kennedy 9 years to eat (it was the hardest thing to come for her) but it did come in time. These guys are definitely on their own timetable for development. Kennedy is the joy of our lives, though and I'm sure Emmaline will continue to delight and amaze you with all she accomplishes.

Laura said...

With as tough as all of this has been on you I'm sure it is a relief to finally know something. Our prayers go out to you guys! Luckily, she is so stinkin' cute you just can't help but love her!

Lance said...

All seriousness aside, maybe she is just becoming one of the next X-men and will be able to mind-read or shoot fire out of her finger tips or something! Just a thought. Seriously though, hang in there you guys.

Mary Ann said...

"The children will show us what they need." That's actually some of the best parenting advice I've ever gotten from anyone.

And, looking on the bright side, you have it in writing from a professional that (right now) you are doing everything you should be doing. That's reassuring.

Elodie said...

Oh Megan, my heart goes to you. I'm so sorry that Em is so sick, I was wondering why she had a feeding tube and why she was throwing up so much, poor little girl. But in the pictures she seems really happy and so is Isabella.
I know you are the mom that Em needs, we will keep your family in our prayers.
Eva and Jerome still remember Isabella and her love for the green apples !

Dad said...

Good posting Megan, your brother finally brought me up to speed on technology so I can watch the girls grow in cuteness!

Abby said...

Meg I am sorry things are so challenging for your family right now. Em is an amazing little girl and I am sure she will suprise us all with her strength. I can tell she has Substance just look into those eyes!

Krystal said...

Hey Megan, Just saw the update on your blog. What a journey you've been on this past year. I am glad you have a diagnosis-to have a better understanding of what to expect/how to help her. She is so blessed to be part of such a special family.

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