Dr. H

We spent Thanksgiving in Charleston, SC. Caroline did great. We rented a minivan and enjoyed spending time with my sister, brother - in - law and mom and dad. Carley had a ball with all the dogs too. Caroline is close to nine pounds and is still eating and sleeping good. We finally got an appt with the NY doctor to see Caroline concerning mainly her growth delays at this time. We will go to NY March 14. We will also spend time that weekend in NJ with my grandparents and other realtives who will want to see Caroline. We are happy about this appt and hope it will hold more answers for us. Caroline's mickey button surgery has also been scheduled for Dec. 24. We will spend Christmas Eve day in the hospital and hopefully that will be it. We are expecting great things for Caroline because we serve a great God! Please keep us in your prayers.

Story Time With Daddy

Carley and I have story time every night before she goes to bed. Tonight Caroline wanted to be included. So the three of us had story time tonight.

Caroline resting on her exercise mat.

Pictures

Caroline has learned to suck her thumb!

Debbie Sykes from Texas came to visit on 11-17-07

Carley is into dress ups now. Today she was a ladybug!

Pictures of Caroline's fingerprints and the second picture shows the actual size of her hands and feet.

Professional Pictures of Caroline.

Caroline's all Smiles!

Eight Pounds!

Caroline is 8.6 oz. today. Caroline had a synagis shot today as well as a rota virus vaccine orally. These are new vaccines and were not available when Carley was little. It is scary, but I would not let them give her any other vaccines today and they really did not agree with me. I came home and gave them both tylenol and put them to bed. It was a rough morning to get ready and go to the doctor. Carley got a flu shot too! Cameron had to come help at the end of the appt. We were there for two hours!! I will never take them both together again. It was completely rushed and I am still stressed from making decisions with little or no information and support with what I am up against. My pediatrician does not know or understand Caroline's diagnosis. To her credit neither do I. She thought it was related to downs. I said this is 2/3 of a set of chromosomes not one or two extra or deleted chromosomes. It was a morning like this, " No one should have to do this or feed their child this way." In the meantime I was rushing out the door, changing two diapers, Caroline would not take all of her bottle. I went to grab the syringe and fill it with milk. It popped and bruised my finger. It has happened three times and all of the times I just want to gasp. We made it to the dr. only to wait and be there for two hours. I am beat. Please pray for continued strength. It is hard to feel hopeful and positive everyday when no one else is in my shoes day in and day out.

Speech Evaluation

Yesterday Caroline had a speech evaluation with a speech therapist. She was very encouraging to me. She watched Caroline feed from her bottle and checked to see if she had a strong suck on her bottle. She watched Caroline suck her thumb, track with her eyes, respond to sound, and coo. She said all of her language and social and cognitive development is on track for a four month old. She also told me to not let the internet and other children limit what Caroline can do!Caroline doe snot need any feeding or speech therapy at this time. We will re-evaluate in 3 more months. Today Caroline was weighed by her home health nurse weighing in at 8.3oz. I never thought I would be able to type eight pounds. She is so sweet. We went to the mall today and took Carley to build a Rudolph. It was so much fun. Caroline did great and Carley had a blast!!!!

Mosaic Triploidy

I have been able to do more research and talk with some families who have theses children. I really wish I had all avaliable information and was able to explain it to you. I am hopeful when I look at Caroline and see all of her progress, yet I want to be honest and reasonable with this diagnosis. From what I understand there are 25 confirmed living cases. I am in touch with families of a 2 yr old, 8 yr old, and 18 yrs. old. these children have mental retardation, dental issues, learning difficulties, poor speech, urinary and kidney problems. Thier hands and feet are similar to Caroline's. She has mild webbibg in her hands and more in her feet, primarily her toes.Caroline has all her normal 46 chromosomes plus 2/3 of these chromosomes have an extra copy. So She has three sets of chromosomes for 2/3 of her regular set. I do not know the exact matches, but do lan to know. I have not received the complete genetic report. It takes months.
I do have about three doctors that I would like to go see in the near future. They may be able to help me understand what this diagnosis means for us. There is a geneticist at Dupont. Dr. Harbison is in NY for endocrinology, and another Geneticist called Dr. Niche.
Caroline is now reaching for objects, cooing loudly and responding back to us. She also can support her head and hold it up briefly while her back is supported.

Hope for today...Strength for tomorrow

I am at a loss. It is difficult for me to post this info, but necessary. Please pray for me as I struggle to grasp the new information given to us Wed. from our geneticist. Caroline received a confirmed diagnosis on Wed. We are not expecting this. According to the skin punch test Caroline has a very rare chromosome disorder called: mosaic triploidy.
There is some info on the Internet and lots of scientific journals that are way beyond my capacity of understanding. I was disappointed because RSS has more positive information and real live families to connect with. I have no definite info and no people yet to talk to about this. Most docs have never heard of it. We are still going to see Dr. Harbison in NY to discuss other endocrine issues as Caroline's growth is still a part of this new syndrome.
Do not confuse this with full triploidy - it is incompatible with life. All babies usually die in the womb or shortly after delivery with full triploidy. Basically, Caroline's condition happened at conception. Caroline has three copies of some of her chromosomes rather than just two like the rest of us. She is relatively healthy And does not have some of the major health issues that some of these babies have. There is no confirmed information concerning her life expectancy, physical dev. and brain development for the future. We are still up against a lot of unknowns. IN some ways I feel like it does not even matter that we know what is wrong. It does not change Caroline or make her better. It also does not change our treatment plan. We will continue with all therapies, hope for the best, and pray for constructive information, research , and guidance. Please remember us in prayer. Caroline is happy and weighs 7.14. There is a whole new understanding about Caroline being "fearfully and wonderfully made!"

More News!

Our days have been filled with more appt. this week: neurology, endocrinology, GI, and home health nurse. Today we went to endocrinology. Carolione is blowing spit bubbles and working on moving her head from side to side from a tummy position. This is a true struggle due to lack of muscle tone. We have more PT on Monday and back to see Dr. Spence on Wed. for results of our skin punch chromosome test and hopefully more info concerning Caroline's diagnosis.
Caroline is 7lbs 10 oz. today! So big!!! We are so glad and can tell a physical difference already!
Mimi left to go home today and we will make our first car trip to Greenville, SC for Papa's birthday weekend. We also took Carley and Caroline to her fall festival last night. Carley was a pirate and Caroline was just her cute little self. Caroline giggles and laughs and is quite responsive. We take joy in these milestones and do not take them lightly.
We met with Dr. Parker today. We loved him! He was a very good listener paid me a very high compliment. He asked me if I was a PH D, nurse, or doctor. I smiled and humbly said, "Just a mom who has read, researched and listened to many doctors! His response was, "You are not just a mom and a teacher and I am so glad you are well educated." This is worth all the hours of research and heartache. Back to Caroline's diagnosis. I have researched many things, but have spent a lot of time with moms on a list serve for children that have a specific genetic growth syndrome called Russell Silver Syndrome. Most docs are not all familiar with this, but the specialists at least know of it. So for about two months I have read about treatments and things to do with babies like Caroline, but my hands are tied after I have been exposed to the knowledge. There is a well known doctor who specializes and treats kids with RSS and knows all about growth problems in babies. Her name is Dr. Harbison in NY. I have read wonderful stories about her and the families she has helped. Today was a huge answer to prayer. Dr. Parker knows all about her and says I am onto something and believes I could have possibly diagnosed Caroline myself. She has too many commonalities. It is complex, but oh so interesting to me. He took pics of Caroline and sent them to Dr. H in an e-mail and is referring us for an appt.
So maybe in Jan. we may be taking a plane trip with Caroline to NY. There is much insight and medical help with a diagnosis, especially to help Caroline reach her full and possible potential. I rest in Him for my hope and my strength. Love to you all.