Tuesday, April 7, 2009

Doctors and Nurses and Surgeons...Oh My!

Tuesday, April 7, 2009 - I talked with Dr. Edmonds last night and he told me the "real" reason Elle was bumped from surgery yesterday. Not only was his day hectic and filled with unexpected patients, but when he had scheduled surgery, he had scheduled it with an anesthesiologist. When the anesthesiologist discovered that Elle is a cardiac baby - he refused to do the anesthesia. All cardiac babies have to have a specific anesthesiologist - a CV Anesthesiologist when they go into surgery. Thank goodness the surgery was moved to today so Dr. Edmonds could coordinate with the CV Anesthesiologist. Everything happens for a reason! Elle had a huge day yesterday, and as I sit here this morning with her, I pray that today is a little bit more quiet leading up to her surgery. Yesterday during rounds, the doctors told us that Elle's CMA test came back normal. When I was pregnant, Lee and I decided to have an amnio done because we had a 1 in 22 chance of having a baby with a chromosomal disorder. The amnio came back fine but it only tested chromosome 13, 18 and 21. Because Congenital Heart Disease is associated with so many other defects, the doctors decided to do a CMA test on Elle when she was born. The CMA tested her other chromosomes. Initially, the doctors were concerned Elle had a disorder called DiGeorge Syndrome. From what I have read, DiGeorge is typically associated with immune deficiency. I don't know too much about the syndrome. The night Elle was born and she had her supposed seizure, her calcium level had dropped and for several days after, she could not regulate her calcium levels. This is a side effect of DiGeorge Syndrome. We had to wait on the CMA to come back to see if she had the syndrome. The CMA came back good so I think we are in the clear for Di George Syndrome. While we are in the clear for DiGeorge, the doctors now feel that there may be other issues with our little princess. Yesterday morning, the radiologist was looking at Elle's CT. He noticed that Elle's ear canal appeared to be a little deformed. When he noticed that - he decided to look at the MRI. Ear issues usually go hand in hand with eye issues. He looked at the MRI and noticed that Elle's right eye had what appeared to be a bump on her retina. Thank goodness he was thorough in reviewing both the CT and MRI! We met with the Optimologist yesterday. Poor little Elle had to have her first eye exam and it wasn't pleasant. They had to use little tongs to keep her little eye lids open so the other doctor could see Elle's eyes. Thankfully, the nurse was giving her sucrose to keep her calm. I have no idea why babies react the way they do to a drop of sucrose on their lips - but as soon as Elle gets some - she calms down and her eyes gets real big. The optimologist told me that Elle for sure has a coloboma in her right eye. A coloboma is basically a hole - it can be on the eyelid, iris, retina, optic nerve...I think basically any part of the eye. When Elle's eye was forming, her retina didn't go together all the way. The optimologist told me that where Elle's coloboma is located should not effect her vision in any way. Praise the Lord!! Had it been millimeters in either direction, Elle most likely would not have vision in her right eye. Again, the Lord works in mysterious ways! Because they made the positive identification of the Coloboma, the rounding doctors wanted me to meet with a genetics doctor to discuss a specific syndrome called CHARGE syndrome. CHARGE syndrome is a syndrome where the major characteristics include C(coloboma), H(heart defects), A(artersia - choanal aretesia), R(Retarded growth and development), G(genital malformities), E (ear defects). Because Elle has the CHA (coloboma, heart defect and choanal artresia) - our rounding doctors felt it was necessary for us to talk to the genetic doctors. Genetic doctors are in a world of their own. You can definitely tell them a part from the other doctors! Lee and I met with the genetic doctors at 4:30 yesterday afternoon. So far, they have been the only doctors to keep an appointment! They talked to us about CHARGE syndrome - but Lee and I had already done our research. The syndrome runs the gamut of mild cases to major cases. It is way too early to determine if sweet little Elle will have learning disabilities or developmental issues. Their suggestion was to get physical therapy, occupational therapy and early childhood intervention involved in Elle's development as soon as possible after surgery. I had already planned on that because children that spend an extra amount of time in the hospital after birth are slow to develop anyway. They basically didn't give us any new information. The last thing that we will have to do for baby Elle is for her to have her hearing checked. That will most likely take place after she has recovered from the BT Shunt. The genetic doctors told us that two of the leading doctors in the world on CHARGE syndrome work for Baylor College of Medicine. One of them is on rounds at TCH next week and will be coming by to see Elle and to talk to us. Lee and I have put our little girl in the hands of a very powerful and gracious Lord. He has afforded us so many blessings in the last 9 months and even more in the last 2 weeks. We know that no matter what the outcome, our little Elle is exactly how God intended!

11 comments:

Angelle said...

Hey Lisha,
I am so glad to hear that little Elle's CMA was good. I am sure you feel blessed that the two leading CHARGE physicians in the World work at Baylor and are on rounds in the very hospital your little angel is being treated in! It is amazing we are so fortunate to live in a city that has one of the world's leading medical centers! The Lord is good and he knows what he is doing! Thank God for all of Elle's blessings! We are praying for her sucessful sugery today! Give hugs and kisses for me! I will see y'all soon!
Angelle

Nathan said...

The lord works in mysterious ways. He will watch over her.

mrsrubly said...

i am praying for little elle. i pray that all the tests come back a big fat negative for everything. i pray that today will be a quiet relaxing day of all 3 of ya'll. the lord does work in mysterious ways. Thank you Jesus!

Sebastián Streiger said...

Hi!!!
My little daugther is a CHARGEr. New sunday she will be three years old.
No doubt you will do very well in finding physical therapy, occupational therapy and early childhood intervention.
Don´t be affraid about the many things that CHARGEers kids suffer. They also had a huge will to live.
Me and my wife were very frightened when we read abot CHARGE at internet. Your bets resource is the charge syndrome foundation manual.
Mariana (my little daughter) has bilateral optic nerve coloboma. The ophtalmologists (3 of them) told us that she would be almos blind. Now she is going to turn 3 years old and can recognize letters, play with toys, etc.

Just curious, how is Elle being fed?
Mariana (as meny kids with charge sindrome) has swallowing dificulties.

Best regards,
Sebastián Streiger

Angie said...

We're praying for you guys and precious baby Elle!

Angie & Sean

Casey said...

Lisha, Lee and Elle,

My son now 17 and a Junior in High School has CHARGE. You are in a very good place, Baylor is great. there is a chromosome test for CHARGE, the gene is CHD7, though some with CHARGe do test negitive for it. It is a specific test and not normally done on typical chromosome tests. A great place to find info is the CHARGE Syndrome Foundation at www.chargesyndrome.org. Also there is a great email support group on YahooGroups (search for CHARGE) on it is over 1300 members from all over the world. Good Luch and please email me if you would like to.

Casey

Dawn H said...

As I sit here and read your blog, I can not tell you all the memories it brings back of being in the NICU at TCH with my son waiting for his BT shunt surgery. We went thru all the same test and issues that you are going thru. I totally understand all the fears and questions you are having. But as you know Faith, and the Lord will get you thru it all.
Many prayers for baby Elle and your family.

Lisa W. said...

Lisha, Lee, Elle,
My daughter is 11 and has CHARGE - the early days were very scary but she is now an outgoing, busy fifth grader who loves to chat on Facebook, MSN and go to musical theatre classes. You are lucky to be near Baylor - they are very knowledgeable about CHARGE. There is also a huge amount of families out here on the Internet to help support you in any way we can.
Lots of love from New Brunswick, Canada...
Lisa, Graeme & Kennedy

Megan said...

Lisha,
We are all still praying for sweet Elle.

We love you guys!

ellen charge said...

hello im a charger to if you go to some of the blogs of those who have commented mainly lisa you will find links to people like me and tohers with charge so i urge u strongly to do that and comment on us to big hugs ellen in aus

dmom said...
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