Thursday, April 23, 2009

Tying the Pieces Together, Part 2

Sweet relief. Sweet relief is what I feel today after our highly anticipated meeting with our geneticist. But, before I explain how all the pieces of the puzzle finally fit together, allow me a moment to express my gratitude to a very down-to-earth doctor and scientist, Dr. Angela Scheuerle, MD, FAAP, FACMG. Dr. Scheuerle took great time in understanding us, as a family, and our medical history. Talking with her was like talking to a friend. During our meeting today, she explained everything on a level that we, non-scientists, could understand.

She explained that we should have two of each chromosome and that a deletion or duplication (addition) is what causes genetic syndromes ranging from Williams Syndrome (caused by a deletion) to Downs Syndrome (caused by an addition to Chromosome 21).

Our son has a duplication of a gene. This gene is known as 7q11.23 duplication. This duplication was first discovered in 2005, thus not a lot is known about the problems occurring with this type of genetic syndrome.

We do know delayed speech, delayed motor skills, and slowed growth are all connected to 7q11.23 duplication. It has also been documented that autism or other type social anxieties as well as various learning disabilities have accompanied some with the gene, but others have no problems socially or educationally. The issues with social interaction and learning dissabilities seem to span the spectrum of severe to non-existent.

Dr. Scheuerle explained that there are many people walking around with the genetic duplication but show no symptoms whatsoever. This is very positive for us. Even though we have a 14-month old who is not talking and not walking, it does not mean we will be dealing with serious issues the rest of his life. It does however serve as a road map for us, telling us what may be ahead of us. In which case, we can be better prepared.

While constipation, a serious problem for Snugglebug, is not considered to be a symptom of this syndrom, Dr. Scheuerle surmised that it could also be related. This is the final piece of the puzzle. She explained when you have a vast array of issues that seem to be unrelated, they are typically related to a genetic syndrome from either a deletion or duplication of a gene.

Currently, Snugglebug is receiving physical therapy, and we hope to begin speech therapy soon. He is already progressing in his motor skills which thrills me. I've never been one of those moms who wanted their baby to stay a baby. I couldn't wait for him to walk, and I still can't. I can't wait for him to talk either. I can't wait to hear what his little mind is thinking about! I can't wait to have a conversation with him. All these things are going to come in time. I must hold steadfast to the fact that God is a gracious God, and that He will see us through.

I'm encouraged by all we have been through in the last few months and even more encouraged by what we learned today. The pieces of the puzzle have been tied together and presented with a solution.

7 comments:

Laura said...

Your positive writing makes me thank God for His provision in your life. Thank you for being that wonderful example that I often desperately need.

Love you friend!
Laura

Araratacres said...

Cynda, you are amazing, and God definitely knew what he was doing when he gave you your little guy. I love your spirit, faith, and trust.....it is so much bigger than my mustard seed I feel I am toting around. I know in my heart that all will be well, but you and Michael and little guy are in my prayers just the same.

Tammy said...

Sounds like you got the answers you were searching for and now that you "know" it is easier to deal with the road that lies ahead.

Tricia a.k.a. 'Mommy' said...

Cynda... Hi, my name is Tricia, I have a daughter with the Duplication and I just wanted to say Hi and let you know about a group of Duplication Mom's... If you are interested...

http://www.bcm.edu/genetics/dup7q11.23/familysupport.html

Cynda said...

Tricia, thanks for the info. I just joined. Gabriel's intro will be in the February edition of the newsletter. I am so thrilled to have found you guys!!

sjusher said...

Cynda,
I am Susan. My son was just diagnosed with Williams Syndrome Duplication. He will be 5 Valentine's Day. My son looks like an average boy. He is smart and handsome and most of all healthy.
God knew what he was doing when he blessed us with these children.
I applaud you for not giving up and getting a specific diagnosis.

sassyb3 said...

Hi I'm Sarah and like you I am relieved to finally know that my little ollie who has the duplication will eventually be able to walk and talk just at a different pace, I am so relieved to have his diagnosis and info on what life may hold for us which we got on Thursday xx