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8/28/09
It's been a long(!) two weeks but Ethan is home now. We gave Jonathan his presents from Ethan (a new Thomas train and a box of cookies). Jonathan loves his new train. Could care less about having Ethan home. :-) But at least we got a "Thank you, Ethan" out of him. Currently scheduled to be back at Children's on Sept. 21.
8/27/09
As of 8/27/09: We are still on track to come home today. The call on whether to come home today or tomorrow is entirely ours. The hospital is satsified with discharging him at any time now. If we feel we need an extra day to work with the feeding equipment and get familiar with it, we can stay. If we feel OK with it, we can leave. The equipment showed up yesterday. I used it yesterday and Dina used it last night. Not very hard at all (after you've used it once, it almost seems obvious how to use it). The opthamologist showed up yesterday to examine his epibulbar dermoid. While large, her opinion is that it is not currently interfering with his vision. She currently sees no indication to think his vision is impaired in any way. It will, however, need to be continually monitored and, ultimately, most likely will have to be removed. They ran the hearing test again today. They have to run the test when the baby is sleeping and not moving. Ethan apparently was very restless in his sleep resulting in them having to run the test 3 times (movement can give false positives). He passed 2 out of 3 times. I personally view this with some suspicion and will hold judgment until his hearing is evaluated at Children's. But it does give some hope that he may not actually require surgery in his middle ear. We contacted Children's and they are supposed to get back to us today regarding his next appointment. I hope this will be within the next 1-2 weeks. His feeding is showing improvement but it is painfully slow. But progress is progress. The goal is to get him off the feeding tube entirely within 1-2 months. Ethan failed his car seat test. This means we need to buy a new car seat even though we already have one (he's too small for it currently). We will buy a new one and use it for all of 1-2 months and put him in the old one (that fits in the stoller) when he's bigger.
8/22/09
We got back to the hospital from Children's about 4:30PM. Several specialists examined him. It is now officially Cranialfacial Microsomia as the diagnosis. The doctor doesn't like the other names (Goldenhar's Syndrome, Hemifacial) - but that's his personal preference. The diagnosis is the same which is what we first diagnosed. Nothing will be done to Ethan surgically until he is about 1 year old. At that point, they will probably address the lateral cleft in his mouth, and the ear tags (at our request - the ear tags are purely cosmetic and Children's leaves that entirely up to the family). The reason for the wait has to do with the proxmity of these areas to the facial nerve. Ethan's jaw is actually far worse than I thought. His entire lower left jaw is underdeveloped/malformed. On his left side (good side), the Ramus is smaller than it should be (the bone that extends from the base of the Mandible to the upper jaw where it hinges together). His right Ramus is almost non-existant. Moreover, the base of the mandible on the right side is shorter. This can and will be addressed surgically, but not until he is about 2-3 years of age. It is almost certain he will be deficient in hearing on his right side. To what extent is not currently known, but like the article you sent me, it won't be addressed until he is at least 4 years of age. The epibulbar dermoid on his right eye the doctor felt will probably need to be removed due to it's size. This again will not take place until he is at least 1 year old. His spine cannot be properly evaluated until around one year of age. The plan going forward is once we get discharged from the hospital, we will setup another appointment with Children's in the following 1-2 weeks (depending on when we can get an appointment). At that time, they will concentrate on working with us to get him feeding better. The other disciplines will also come to examine him as a sort of "heads up" as for what will be coming their way in the next year. After that appointment, they will tell us when is the next time we should come in. They will monitor him over the next few months. If anything changes, the surgical schedule may be brought in (i.e. the epibulbar dermoid is growing faster than they would like/anticipate - so it will be removed sooner than after 1 year, etc). But if nothing changes for the worse, we are probably on track for having the first procedure done around 1 year from now. The doctors at Children's felt that Ethan can be discharged now and sent home with the feeding tube. We will work with Children's to work on his feeding to get him off the tube. This will be a long and time consuming process. They have shown us methods to tape that side of his mouth shut (basically closing off the mouth where it normally should be closed) and it seemed to help with the feedings but he is still having difficulty. The hospital has begun the process of discharge. With luck, he will be home within a week. They need to setup an initial plan for us going forward for working on his feeding, ordering the equipment for us (for the feeding tube) or point us to a vendor, clearing everything through insurance, etc. So in a nutshell: Ethan will be home in a week (give or take). He will still be on a feeding tube but will will be working with Children's to get him off that. This will take some time. We will have "regular" appointments with Children's for monitoring and evaluation. He will require at minimum of 7 surgeries (3 for the jaw - minimum, 1 for the mouth, 1 for the ears, 1 for the ear tags, and 1 for the eye). Surgeries will begin at around 1 year of age and continue until probably around 4-5 years of age. The studies on this indicate that it is genetic. They do not understand the genetics. Ours is a typical case - no history of it on either side and then it appears sporatically. Therefore, they think the genetics behind it are quite complicated - some specific set of genes on one side with specific set of genes on the other side coming together in a sort of "perfect storm". Therefore, currently, they believe the odds of siblings having children with CFM are very low - i.e. because it appeared in our family now, the odds are still low that Elaine, Andy, or Ryan will have this problem.
8/19/09The on call NICU physician said he had indeed seen this before (this was a different doctor). His diagnosis is specifically Goldenhar's Syndrome - which is basically what we suspected: it's a type of Hemifacial Microsomia. He is sure of it. From his examinations, it seems that Ethan is very healthy and that most of the manifestations of the syndrome are cosmetic. Ethan had his hearing test done. The left ear passed. The right ear did not. So they will retest again tomorrow. If the results are the same, we will go to Children's to have a much more comprehensive hearing test done. If he fails the test tomorrow, it does not necessarily mean he does not have hearing in the right ear. It means we need a more comprehensive test. He thinks the dermoids in his right eye should not impair his vision. They may lead to astigmatism later on in life but he said the team at Children's will evaluate and decide if they need to be removed. If they do not impair sight and will not cause any future problems, then the only issue is one of cosmetics and we can have them optionally removed at a later date. His recommendation was to start the process of meeting with Children's immediately as it is in fact a "process" you go through - you don't just call for an appointment. We start the process now because it may be months before we actually get into to Children's to meet with their team. However, he did say that if through some miracle they had an opening and could see us before Ethan is even discharged, the hospital will find a way to make sure we do not miss the open slot at Children's - even if that means they need to send a nurse with us to Children's. In other words, the hospital will do what it can to help us through the process and will in no way be a hinderance to us if Children's is ready before Ethan is. Dina has already made the initial call to Children's and we are waiting to hear back from them. Ethan is not making huge progress in eating. He is hungry more often and they are feeding him increasingly larger amounts and he is keeping it all down. The issue is that he still is not very capable of feeding himself (either by breast or bottle). However, when I did go to visit this afternoon, he sucked down 42 ml orally leaving only 8 ml for the feeding tube. But it seems he's not always consistent.
8/17/09
So as of 8/17/09, this is where we are: Ethan was born with Hemifacial Microsomia. It is sometimes referred to as Goldenhar Syndrome or Cranialfacial Microsomia (among the dozen names this condition has). There is no official diagnosis yet as only the staff at Children's is qualified to make this diagnosis. I spent countless hours researching his irregular physiology until I came to this conclusion. The hospital staff seems to concur with my conclusion - but again - only Children's can confirm my/our suspicions. He has trouble feeding and consequently is in NICU where they are working to get him to feed regularly/properly. Some progress has been made but he will not be discharged from the hospital/NICU until he can consistently breastfeed/bottlefeed 30ml per session. He is not able to do this so they are supplementing his breast/bottle feedings with a feeding tube. The reason is that he tires easily and usually falls asleep before he can ingest that amount orally. This *may* be due to the fact that he was 2 weeks early. This probably has nothing to do with his HFM (though it *may* contribute as he may have to work harder to feed than normal because of his mouth). Once he is discharged and can come home, we will be then set up to meet with the cranialfacial team at Children's for a proper clinical diagnosis and then a course of (surgical) treatment. The good news (it's increasingly hard to come by recently) is that Children's specializes in this and are extremely familiar with this. Assuming this is indeed what it is (and I have never been more sure of anything in my life). Ethan is otherwise very healthy. Cranial and renal ultrasounds revealed nothing nor did the echo cardiogram and the abdominal x-rays. Hearing tests have not yet been run but anecdotal behavior suggests his hearing is OK (that is our opinion - nothing official). He is not in any discomfort, all his internal organs are all functioning, and he is behaving fine. Dina was discharged from the hospital on Sunday. She is staying at the hospital in Ethan's room so she can provide regular (every 3 hours) breastfeedings. I am now at home with Jonathan. My folks have left (will return after Labour Day - they could not stay longer as they need to take specific medications and did not bring enough to prolong their stay). Dina's mom will be helping me at home so I can resume working from home (or back on site if required/requested).
8/14/09So to keep you updated or to inform you if I inadvertantly did not initially inform you (apologies if so): Dina gave birth by c-section this morning at 12:39AM. Dina's doing really well (especially compared to last time). Ethan (currently his name - may change again!) was born 5 lbs 8 oz. I forgot his length. He does have a few issues and is currently in NICU. He was taken to NICU after birth, spent the night with us in Dina's room, but after the AM pediatric assessment, was sent back to the NICU. He's had some tests and the current status from the doctor is that he has not heard anything and that no news is good news (i.e. if something were wrong, they would have informed him immediately). Dina is slated to be discharged Sunday (tentative). No ETA on Ethan being discharged from NICU. One issue is that he is not eating and is currently being tube fed. Even if there are no other issues, they will not let him out until he is eating.
-bob
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