Poor little guy. I'm glad he came through it so well. Thanks for the update. How are mom & dad doing?

Hi Mikey,

We're doing well apart from being tired; we haven't gotten much sleep since Monday. Alex has managed to hold down a jar of baby food and some milk so hopefully we won't have any more issues with vomiting (had that continued, it would have meant a trip to the Emergency room).

Ryan

Thanks so much for updating us, Ryan. Alex sounds like a tough kid and a trooper. Hang in there!

Brenda

That's wonderful news, Ryan. I've been hoping you would post. The little guy has been in my thoughts and prayers, and will continue to be. As Brenda says, he's a trooper and so are you & your wife. I can't imagine the trials you've been through.

Bear hugs to all, Diana

Hey Ryan, thanks for the update, I've been looking for it. Kids are amazing resilient of this type of thing. I'm so glad it went reasonably well and that he's already back home.

Be sure to give him as much water to drink as possible. That will help flush out the anesthetic and alleviate that constipation (a common side-effect of the morphine).

Blessings to you all! Please continue to keep us posted.

Jen

I finally compiled a blow-by-blow account of our experience with our younger son. Eventually I'll upload it somewhere:

This is probably more than you bargained for, so my apologies.

The twins were born via c-section on January 30th 2004 at 6:30 (Alex) and 6:31 (Elizabeth) am five weeks early. They both had very wet lungs and were given oxygen, but likely would have come home with us anyway had it not been for Alexander. He was born with multiple congenital abnormalities: slightly fused ring and middle fingers of left hand; extra finger (with no bone) hanging from the left hand pinky; three extensively fused toes on the left foot and two extensively fused toes on the right; a hemangioma over the upper lip below the nose, another at the base of the skull and one on his spine at the hips; hemihypertrophy (left side of his body is uniformly larger than the right); almost no bridge on his nose; spider veins; purple, mottled skin and a "mask" over his forehead that came to a point right between the eyes.

The pediatrician on call just about defiled her drawers and arranged to have the twins shipped to the regional hospital (no longer her problem once the transport team arrived). Elizabeth spent 19 and Alexander 21 days in the NICU for feeding issues (I suspect that I would be lethargic if I were a twin who was placed by myself in a sterile isolette with only occasional human contact-after day 5 Sarah was only able to come twice a day and myself once a day; the nurses were too busy to hold them very often.) They finally sent them home with us anyway because they weren't doing well in the hospital.

While in the hospital, the neonatologist kept busy trying to figure out what condition Alexander might have. Speculation ranged from Klippel Trenaunay to Beckwith-Wiedemann to Sturge-Weber Syndromes.

In July, while playing with Alex, I noticed a lump in his left neck. The pediatrician didn't think it was anything to worry about but had us contact an Ear, Nose and Throat surgeon for another opinion. The ENT decided to order an MRI of the neck to rule out a tumor (it was generally believed to be a grossly enlarged lymph node, but placement was somewhat strange so no one wanted to chance missing anything.) The MRI was inconclusive as far as the neck mass was concerned, but the radiologist discovered what is known as a Chiari 1 malformation. In September he underwent Posterior Fossa Decompression (removal of some bone from the base of the skull and the anterior arch of the first three vertebrae to relieve pressure) at Childrens Hospital L.A. About two weeks later Alex was readmitted (via ER) for a high fever, vomiting and dehydration. It was discovered that he had hydrocephalus that had evidently been made worse by a viral infection (we learned later that the neurosurgeon should have ordered a CT scan prior to surgery to look for hydrocephalus). Alex's fontanel (soft-spot) was actually bulging from the pressure. The neurosurgeon's partner and fellow had the opinion that he needed to be shunted immediately, but he seemed strangely hesitant to do so. We visited the neurosurgeon every two weeks to monitor the hydrocephalus until in November he told us to bring Alex back for another evaluation in February!

During that hospital stay we received a diagnosis of Alexander's condition, he has an extremely rare syndrome called Macrocephaly cutis marmorata telangiectasia congenita or M-CMTC for short. We were informed that he would likely die before he was three, for reasons not fully understood by the geneticist.

At this time we sought out a second opinion from a pediatric neurosurgeon at Cedars-Sinai. We had obtained a CD-ROM of his MRI and CT from ChildrenÂs and allowed him to review them. When he came in, he looked at Alex and said, "I know your twin," in response to our confused expressions he explained that he had a four-year-old patient with the same condition that he had been treating since infancy. He asked us if we knew about the high mortality rate associated with the condition (the first two children he had as patients died) and then explained what he and his geneticist friend thought they had figured out regarding the cause. We knew that children with M-CMTC typically expired because of heart failure, but the cause of the heart failure was unknown. The neurosurgeon explained that his condition was similar to a Chiari malformation but with some differences. It was not only the cerebellar tonsils that were growing abnormally but the entire cerebellum. This pushed against the skull and not only forced the tonsils into the spinal column but actually pushed against the brainstem itself. The brainstem is what is responsible for unconscious respiration and heart rate (when you aren't thinking about breathing, your brainstem is handling the job). Needless to say, pressure on the brainstem can have catastrophic results. He explained that his other patient had undergone four surgeries in four years to keep up with the growing cerebellum. He wanted to attempt a more radical procedure with Alex to avoid multiple surgeries to which we eventually agreed. Before the surgery could be attempted though, there was still the matter of his hydrocephalus; the MRI images revealed a pseudomeningial cyst near the incision site of his first surgery, this would not heal up until the pressure was relieved. We scheduled the shunt placement for two weeks after the meeting, but this was bumped up by five days to December 1st when Sarah and I noticed that Alex had started arching his neck and back which was behavior he had ceased after the original surgery, this was an indication of increasing intracranial pressure.

The procedure is fairly straightforward, for a vp (ventriculoperitoneal) shunt, a hole is drilled in the skull and then a thin tube is run into one of the ventricles. On the surface of the skull, a valve is placed that opens and closes in response to intracranial pressure. From there, a tube runs underneath the skin down through the diaphragm into the peritoneal cavity, any fluid that comes through is reabsorbed by the body. Alex must have been pretty miserable from the hydrocephalus because only a few hours after he came out of surgery he was sitting up in his crib playing (they wanted him to lay down with his head and torso elevated 45 degrees as this was optimal for shunt drainage and he wouldn't do it). Our nurse said she had never seen a child come through that type of surgery with so little discomfort (he never needed anything stronger than regular Tylenol) even the neurosurgeon was surprised.

The next month and a half were uneventful, and on Monday January 31st (the day after his birthday) this year he underwent another posterior fossa decompression. The surgery went well, though from reading the op report it was clear that the surgery was necessary (there was a ligament attached to the scar from the original surgery that ran around the top of the brainstem holding it to the skull and the cerebellum had already displaced the bottom of the brainstem anteriorally (toward the front of the head). He recovered well from that and made it home that Wednesday.

Last week we took him in to have his sutures removed and noticed that there was a fairly large hole left behind when the thread was pulled. The next day we noticed some redness in the area and the following morning we discovered a pus pocket behind the hole. We returned to the neurosurgeon's office and after cleaning the wound out, sent us home with a prescription for antibiotics. The antibiotics upset his stomach, causing vomiting, so he was pretty uncomfortable. That Saturday we noticed that he had developed a fever so we called neurosurgery, concerned that the infection might have spread into his shunt (not likely, but a possibility) or that he could have contracted an aspiration pneumonia. The neurosurgeon on call told us to give him Tylenol (that was helpful-first thing we do when a child has a fever) and then let him know the following morning if the fever returned after it wore off. The next morning he still had a fever and was acting irritable so he had us take him to Cedar's ER (all the local ER's would have just shipped him elsewhere anyway, this way we got to choose where).

He was given a fever work up (blood draw, chest x-ray, Oxygen saturation monitoring) and his x-ray revealed some bright shading in the lower left lobe of his lungs. While in there, his condition deteriorated and he was given a blow by (mask placed near the face, but not strapped on) of half liter Oxygen, by that evening he was admitted and required a one-liter nasal cannula. Monday showed no change and Tuesday saw only marginal improvement. On Wednesday morning they started talking about discharging him. Later that day an RSV (respiratory syncytial virus) screen came back positive and resulted in isolation precautions (we suspect and the pediatrician concurs, that he was probably exposed in the ER, since we couldn't find a vector at home- the older kids are home-schooled and we hadn't made it out much since Alexander's most recent surgery and certainly not within the incubation period).

He came home on Thursday, and apart from a slight cough, he is back to normal. In June, he's supposed to see a hand surgeon to set up an appointment for separating his fingers. Thankfully, that will be an outpatient procedure.

One more area of concern was identified the last time he saw the neurosurgeon; he had never had a full spinal MRI, and the neurosurgeon's other patients had had tethered cords (the spinal cord is supposed to be free-floating within the vertebrae, but in this case it is actually connected to one or more vertebrae) and he has a birthmark over the place where tethering is likely to occur. On the 4th, Alex will have an MRI to evaluate that. Surgical correction would require another three to five day hospital stay, something we're not looking forward to.

After that, we are probably looking at some leg lengthening procedures when he is about five or six to help correct the disparity in leg length (already in excess of an inch and certain to get worse).

Ryan

This must be a major heartache for you and your whole family. Children are so precious that we want them all to be sooooo healthy and perfect, and have happiness and joy all their days.

I'll pray for you all and your Alex.... that God the Loving Father will give each of you the help and strength you need each day.

Ryan, thank you for sharing Alex's story with us. What an ordeal he and your family have been through in the past year. He is blessed to have parents who keep a watchful, loving eye on him.

Is there an M-CMTC organization through which you can meet other families who have a child like Alex? It might be very helpful to you and Sarah and your family to meet others who share your experience. I have a friend who has a child with a rare genetic syndrome (Cornelia de Lange) and they belong to such an organization that has been very helpful to them especially in the early years.

Please keep us posted -- meanwhile you all will remain in my prayers. God will see you through.

Jen

There are a few organizations, but the condition is extremely rare (no more than 500 cases have been reported thus far, though it is almost certainly underreported since it has been lumped in with Klippel-Trenaunay in the past). We have been in contact with several families, but not with the only other child who has received his specific treatment regime. So far, we have been able to help other families and have referred several to our neurosurgeon and geneticist (they wish to publish a pair of research articles in the next few years). Thankfully, we are able to recognize this trial as a blessing rather than a curse. I don't think we'd choose for him to be "normal" if we had the option. We are still astonished at how good-natured he is when we think about all that we have had to put him through.

Ryan

Ryan, your story tugs at my heart. You have the right perspective! You are all blessed.

Jen

I forgot to mention one poem that my wife and I like, it was written by the mother of a Down's syndrome child and given the similarity in temperament of children with the respective disorders, the shoe fits.

Ryan

I've heard it said that we are only given as much as we can bear. You and your family are blessed with a strength of character few of us can imagine, Ryan.

I've witnessed the child who is good-natured in the face of unthinkable obstacles. My nephew's sense of humor and general outlook on life is inspiring, to say the least. "They" still don't know what it is that inflicts his body, but we know his soul has been spared.

Our thoughts are with you.

Brenda

We spoke to the neurosurgeon yesterday afternoon. The MRI showed that the decompression surgery was completely successful and there were no spinal abnormalities visible. This means no more neurosurgery in the immediate future. In six months Alex will have surgery to separate his fused fingers and in a few years he'll probably have to undergo some leg-lengthening surgeries but for now we are relishing the thought of going several months without so much as a CT scan (he hasn't been more than two weeks between doctors visits since he was born).

Ryan

That is wonderful news, Ryan!!! I am SO happy for you and your family! Enjoy the spring and summer with little Alex! :)

Brenda

That is wonderful news Ryan. I was just thinking about you and Ryan last night and wondering how things are.

Jen

I mean... I was thinking about you and Alex.

Jen

Ryan, how's the little guy doing? I've been thinking about you all.

Jen

Prayers for you and your little guy, what a little fighter he must be!

Hello Jenn, sorry about the delay in the reply, it's been busy around here. Alex has been doing well apart from a very persistent viral infection (which the rest of us have had as well). He has started seeing a pediatric physical therapist twice a week and is progressing well. So far, any developmental problems have been physical, not cognitive and we are hoping this continues to be the case. He still cannot crawl, but has developed a rather unique mode of locomotion - he scoots around on his posterior. His verbal skills are on par with his sister. A visit with a cranio-facial team at UCLA didn't turn up anything new, except that they will be interested in monitoring jaw development over the next few years in case the size difference between the two sides causes chewing difficulties (if a serious problem does develop it will probably mean more surgery).

Ryan

Ryan, I'm sorry to hear you all have been sick, but it sounds like you all are having a little break from emergency trips to the hospital. I hope things continue to go well.

Jen

On Wednesday, Alexander started vomiting whenever Sarah tried to give him acetaminophen and ibuprofen so we were unable to control his fever (we had taken him to see two pediatricians in the previous week and neither one thought he was sick enough to treat).

At about 3:00am yesterday morning we decided to call the on-call Neurosurgeon who advised us to call Dr. Danielpour when his office opened. We were given an 11:00am appointment and Alex was finally seen at about 2:00pm. The Neurosurgeon tapped his shunt and pulled out less than 1cc of fluid (this indicated that the shunt was not blocked), he then sent us over to the Emergency Room. The Triage nurse got a rectal temp. of 105 fahrenheit and immediately gave us a bed.

Last night he was admitted to the PICU as testing on his CSF indicated the presence of a gram negative bacteria. At about 9:00pm the Neurosurgeon diverted the fluid from his peritoneum to a bag next to the bed. He normally would have removed the whole assembly at that time, but he didn't want to be doing endoscopic brain surgery with a crew he didn't know (Dr: "Can you pass me the..." Nurse: "What's a ...")j/k. He scheduled Alex for removal of the rest the next day.

Evidently, the lab somehow contaminated the sample as subsequent tests indicated no lymphocytes in the CSF and no sign of any bacteria. Acting on the new information, Dr. Danielpour decided to replace everything from the peritoneum to the valve (a ct scan showed that the shunt was likely overdraining) but not the hardware inside his ventricals). After surgery, the blood tests indicated the presence of a gram positive bacteria (yet another indication that the first test results were erroneous) and that is probably the reason for the fever and vomiting. Now they have him on IV antibiotics, and hopefully will have identified the strain by Sunday morning. At that time they will evaluate whether he needs to continue IV antibiotics or if they can be given orally. If they can be given orally, he may make it home Monday morning; if not, he could be here until Wednesday (this is only a guess of course, no medical professional will prognosticate more than 24 hours in advance).

Ryan

I'm so sorry to hear about Alex being ill, Ryan! I'll be thinking of you all until you post an update!

Take care,

Brenda

Oh Ryan, I'm so glad they eventually (!!!) were able to diagnose him in order to properly treat the infection. I'm amazed you had to wait 3 hours after your appointment time for a child as sick as that. :-(

I hope he will be home very soon.

Jen

Jenn,

Alex was uncomfortable and certainly urgent but every case is urgent for a pediatric neurosurgeon. The doctor was already booked solid and the emergency slots had all been taken by the time we called (he had been out of town for a while). We once waited five hours at Children's hospital for an appointment made a month in advance and the waiting room was smaller so I'm not complaining.

Another factor is that none of the facilities we have used so far have caught on to the fact that we have a knack for bringing Alex in just when he's about to crash (he usually goes from sick to critical during triage and yesterday was no exception. He hadn't had a fever approaching 105 prior to our arrival in the ER (or we would have simply taken him in and called the neurosurgeon afterward).

Thankfully, he hadn't become dehydrated before they got the IV in (I'm sure I described how much fun it is to get an IV started then) and the nurse got it in one stick. Remarkably, the site still hasn't infiltrated (his record so far is two days, he loses most within twelve hours).

Ryan

Ryan, thank you for explaining. It breaks my heart to learn that there are so many pediatric neurosurgery cases. Kids are so special, but thank God they are also very resilient.

Sounds like good things are happening each time you face a new event... blessings in tough times.

Keep us posted...

Jen

Correction from a doctor: there was no contamination, the gram stain was misread. There are at least four or five doctors involved in his care (usually they know why he's in so there are only two or three) so any information is subject to revision. The best current guess is that Alex had a viral infection that progressed to a secondary bacterial infection which resulted in septicemia and a shunt infection. Because it was so early, it's possible the IV antibiotics were able to knock out the shunt infection before it could get well-established. If results for the samples they collected during yesterday's surgery are negative, we will consider ourselves to have dodged the bullet. We still won't know for sure about the bloodwork until tomorrow sometime.

I might not be able to post as frequently once Alex is moved out onto the floor because right now I'm piggy-backing on someone else's unsecured wireless network (Thank you permasteelisa if you happen to read this!) and I don't know if I'll be able to get a signal in his room.

Ryan

Wow Ryan, dodged the bullet is right. Septicemia is serious stuff. I'm so glad Alex pulled through again.

Blessings to you all,
Jen

Ryan, it's good to hear your little guy is doing better. You are an amazing family, and your son is an exceptional child, with more resolve and courage than many grownups. I hope things continue to go well for Alex and that you let us know of his progress.

Bear Hugs to ALL of you! Diana

Well, more bad news. I don't recall the name of the bacteria, but it's one that can cause serious trouble in a shunt. The infectious disease doctor guessed that Alex was within six hours of full-blown meningitis by the time he got started on antibiotics. They have decided to do ten days of IV antibiotics, to facilitate this they will install a pick line tomorrow (an IV that will go in his arm just above the elbow and be run all the way to his heart). There is a slight possiblity that they will permit my MIL, who is a nurse, to administer the antibiotics at home. If not, he'll get out about Tuesday of next week.

Ryan

Alex made it home today. A home health service will send a nurse out this afternoon or evening to show us how to give the antibiotics (btw, I should have said "PICC" not "pick." It's an acronym for Peripherally Inserted Central Catheter). They will come out again next week to remove the catheter. Our next visit to the Neurosurgeon should be next Thursday. Hopefully we'll be able to stay away for a while after that.

Ryan

Ryan, I'm so glad to hear that he's home. Hospital just don't measure up to being at home. Big HUGS and prayers sent your way

Tamara

I'm glad he's home a day early and it sounds like he'll be getting good care. As Tamara said, there's no place like home.

Jen

Update: Alex was readmitted Sunday night with a fever. He made it home Wednesday without the PICC. Infectious disease thinks the antibiotic dosage may have been too low at first. He is now home and seems to be doing well. We really hope he doesn't require surgical intervention anytime soon as the neurosurgeon is going to be doing charity work in China for the next two weeks.

Ryan

Funny, I just noticed this while doing a Google search on M-CMTC (naturally nothing new). The last post was a bit prophetic. Alex was readmitted about four days later and spent the next two weeks in the hospital with an external drain (that had to be revised once) and then a reinternalization of the shunt. We are now into October and fervently hope we have seen the last of 4 North at Cedars for a while.

Ryan