Monday, March 23, 2009

A little of this and a lot of that

It's been a while since I posted anything about what's been going on at the Marlett house. Part of my blogging absence is due to my chronic fatigue that unfortunately doesn't appear to be going away any time soon. Another reason for my lack of posting is the intense decision making that Drew and I have been doing. I will share with you what we have been contemplating later in this post.

We have been busy doing all kinds of everyday things and not so everyday things. We are back in the swing of appointments again. Lucy had her one year "well check" a week ago. It was oddly comforting standing in our pediatricians office discussing all of Lucy's issues and joking with her about the CHOP system and all of the "ists" and "ology" doctors that we have seen over the past year. Our pediatrician is a very intelligent doctor who is practical and understanding of her patients' families and situations. We are so lucky to have her as an advocate for Lucy's, for that matter our entire family's, needs! Overall, there were no surprises at her appointment. We are "regulars" at her office and we keep in touch after every specialist appointment.

Last week, we also had an appointment with Lucy's nutritionist. Lucy is continuing to gain slowly but steadily. However, after doing some calculations her nutritionist determined that we need to bump up the calories again to keep her gaining. As she continues to grow and her activity level increases so do her calorie needs, so it makes sense that we keep adjusting her calories. We also made another formula change to see if we can prevent some of the absorption issues that we think could be from the formula. We are trying an amino acid based formula where all of the proteins are broken down so that her body won't need to do any of the processing. Breast milk protein is naturally broken down like this, and we know that Lucy tolerates breast milk well, so we are hoping that she tolerates this formula better than the Alimentum. We are continuing to use a mixture of breast milk along with formula for her tube feeds. We have found that the formula acts as an emulsifier, helping to keep the fat in the breast milk from separating and sticking to the inside of her feeding bag. In our experience we found that when doing an all breast milk feed the milk solids separate quickly and the fat tends to stick to the inside of the feeding bag. The fat is what we need her to have so this is why finding a formula that works for her is essential. We are continuing to receive donor breast milk and for this we are so grateful! So far we are not having the blow out diapers we were having, instead we are dealing with constipation issues again. If it's not one thing it's another!

Last Wednesday we "stared" in a movie about NG tubes for DuPont hospital. Let me explain... About a month ago I received call from our social worker at the hospital who asked if we would be willing to help them with an instructional movie series. They needed a family who was willing to demonstrate how to place an NG tube. I thought about what they were asking and realized very quickly that this would be a way for us to "pay it forward". Throughout the past year we have been blessed by so many who have shared their experiences and expertise with us. I know that an instructional video on NG placement would have been a great help to Drew and I when we were starting out, so I agreed to do the video. Of course my immediate thought was how would Lucy handle all of it? Tube placement is no comfortable procedure, and believe me when I say it doesn't look pretty going in either. What I neglected to think about was that this movie was going to be filmed in our home, they made it sound like that would be more convenient for us-ha! In reality, this meant that I needed to have my house totally picked up and cleaned, and we all needed to be awake, showered, dressed, and ready to make a movie by 8:00am! At eight o'clock Wednesday morning our house was converted into a movie set complete with producer, lighting director, artistic director, hair and make-up, a representative from DuPont hospital, a home health care nurse, and a representative from a home health care agency. There were seven people in all plus Drew and I and the girls! Oh yes, this in deed was a production! I don't know how reality t.v. stars handle all of that, there is no way I could handle doing this day in and day out. I like my everyday private life complete with dirty dishes in the sink and showering in the afternoon! In the end the filming went well and Lucy was better than we could have ever imagined her to be. She was the NG tube movie star!

Now that we have successfully mastered NG tube placement, we thought we would change things up a bit. It has become increasingly obvious to us that Lucy requires supplemental nutrition to grow. Our hopes of entral feeding only lasting a few months has turned into the reality that without it she is unable to take in an adequate amount of calories for growth. There appears to be no end in sight for now, so Drew and I have decided to have the surgery to place a PEG-tube in Lucy's belly to replace the NG tube in her nose. Lucy is experiencing delays in speech and feeding, some think that this could be a result of having the NG tube in her throat. An NG tube is usually placed for temporary situations, although we have learned that some people use them for years. Lucy tolerates the tube in her nose but at times is bothered with it and all the tape on her face. We have learned to look beyond it, but it is an obvious reminder that something is not "right". One of our hopes in placing a g-tube is to give Lucy a more "normal" life. We have spoken with other parents about the procedure and all have said that we will love it once it is in place. I will write more about the details of the procedure when we know more.

Today we had an appointment with Lucy's GI doctor. Ugh...he is a difficult man to talk with! He too has advised us to increase Lucy's calories as she appears to be plateauing in her growth. After explaining again to him about Lucy's digestive issues, he wants to perform an upper and lower endoscopy. He feels that we need to cut back on feeding Lucy any solids until the endoscopy, but in the same breath is not sure that he will find anything during the procedure as an endoscopy can not detect any muscle issues. I mentioned before that we feel that Lucy's GI issues are related to her hypotonia. He does not feel the need to preform a gastric emptying scan(GES) because he already believes that Lucy has delayed gastric emptying. The solution to delayed gastric emptying is tube feeding, and we are already doing that. Because of Lucy's fasting complications we need to coordinate the endoscopy and PEG tube procedures with her metabolic doctor. I mentioned before that Lucy's metabolic doctor would like to preform a muscle biopsy when Lucy is under anaesthesia for her GI procedures, this is where things get complicated. Drew and I are in the process of sending Lucy's entire medical history to one of the leading mitochondrial disease specialists in the country. We are hoping that he will agree to see Lucy and consult with us about her. If he agrees to see her, than we will have her muscle biopsy preformed by him. So we are waiting to schedule any procedures until we hear back from him. Again we are in the hurry up and wait mode! We are hoping and praying that this doctor will agree to see us sometime in the next month or two. To complicate matters further, we learned today that it is not possible to perform the endoscopy and place a PEG-tube at the same time. This means that Lucy will need to be put under for two separate procedures, but we were told that they would coordinate both procedures in one hospitalization.

Sigh...

We have made a lot of decisions these past few weeks. It is difficult not knowing exactly what is ailing Lucy, so naturally we are second guessing many of the decisions that we are making. We are hoping to hear back from the mito doctor soon. For those of you are saying prayers or thinking positive thoughts, send your thoughts and prayers out there that Lucy will be seen by him soon!

1 comment:

Bridgirl said...

HI --

I was reading your blog/post and saw that your daughter is treated @ CHOP for Mito disease. My daughter is currently in the process of being tested for mito disease @CHOP metabolism. Like you, I am always concerned we are providing my daughter the best care possible and was wondering if we could compare notes on our experiences. We are not new to CHOP, we have been dealing with my daughters issues for 4 years now. It is just in the last 6-9 months mito is suspected.

If you would not mind chatting with me, my email in bnhallman@comcast.net.

Thanks,
Bridget Hallmna