Laughter really is the best medicine

Especially baby laughter!

From The Penny and Isaak Video Show

Lots more photos plus doctor updates coming soon! (Tomorrow?) In the meantime, enjoy this bit of baby cuteness. Sound is a must!

November 24th

Two years ago, on November 24th, we got the results of Oliver's genetic testing at an appointment at Duke.  What many - including us - had suspected was confirmed:  Oliver had Spinal Muscular Atrophy.

A few short months later another family got the same confirmation for their 3-month-old son, Mackinley.  Ollie's doctors became lil' Mack's doctors, too.  We met Mackinley and his family shortly before his g-tube surgery.

April and Mackinley with Bekka and Ollie

(Mack was very chatty.  Ollie listened very patiently.)

Neil and I became friends with his parents, Brian and April.  Our lives paralleled each others for a while.  Ollie and Mackinley were the first two children to enroll in the clinical trial at Duke.  And shortly after Oliver died, April and Mackinley came to visit us at our home:

Lil' Mack - 7 months old

Today, November 24th, 2010, our paths have crossed again.  I don't think it's coincidence that on this day that is so etched in our minds Mackinley earned his angel wings.  I think it's Oliver's way of welcoming his friend to heaven.

I can see them now -  running, skipping, jumping, playing - free of the shackles of SMA. And even as I shed tears, I find comfort as I envision lil' Mack and Ollie chatting away.

Babies and Stuff

OK, so to be fair, that is almost always the topic of entries on this blog. If I'm about to drop a treatise on the current state of Sino-Russian relations and their impact on the international mineral trade, I'll be sure to let you know so you can avoid reading it. (Except Roy, he probably would be MORE likely to read that ;)

We will have VERY cute pictures and video up later this month. Both of these little guys are changing so much, we often wake up with different babies than the ones we went to bed with. This week they have moved to a whole new level of personal interaction. More smiles, more giggles, better following of objects and people. Over the last couple of days they have started reaching for and grabbing objects consistently. It's really amazing to watch. Penny is a little ahead from a head control and body control point of view, but they are both doing so well.

Not much (thankfully) to report on the medical front. Isaak had his followup with the eye docs at Duke last week and everything looked pretty stable. His right eye is "fantastic" to quote one of the docs and his left looks about the same (it's NOT going to get better, we just don't want it to get worse). There is some concern as there is still blood in the eye but they aren't sure if it's old blood from the big hemorrhage this summer or if it's fresh. We have another visit scheduled in December when he'll be examined under mild anesthesia so they can get a more detailed look. We should also be hearing from the fine folks at the Governor Morehead school so we make sure we are doing all we can to help him adapt to his peculiar vision issues.

Let's see - anything else...Oh yes, Isaak now weighs well over 12 lbs. This past week saw a weight of 5.57 kilos or 12lb 4.5oz. He gained about 12 oz in one week! We would not be surprised if he tops 13 this week. Penny was 13lbs almost 3 weeks ago and we will try to weigh her this week. It would not be shocking to see her in excess of 14lbs at this point. They are such amazing little guys and Isaak's steady weight gain points to really good adaptations occurring in his GI tract.

Finally, just a reminder/request to help out victims of genetic disease. Alternating Hemiplegia of Childhood is a disease so poorly understood that they don't really even understand what causes it. Everyone out there has been so fantastic voting in the Pepsi Refresh campaign for SMA causes, we hope you feel comfortable voting for AHC in this current cycle. Click on the link below and you vote via facebook login, create an account or send text messages. AHC is currently in 3rd place and needs your help to get to #2 (a money slot). Thanks so much!

http://www.refresheverything.com/cureahc

6 Month Check-Ups

This will be brief, but it is an update!  =)

Both babies went to the pediatrician for their 6 month check-up last week.  Of course that also meant - gasp! - shots.  And while they got the "regular" 6 month immunizations (2 injections), they also got flu and RSV shots (2 more injections).  Isaak didn't start crying until halfway through the second injection.  Penny started about the time the cap came off of the first needle!  Neither one of them cried for very long, but it was heartbreaking nonetheless.

So, I'm guessing you all want statistics.  Well, tooooooo bad!

Just kidding!

Penny weighed a whopping 12 pounds, 10 ounces.  Her head circumference was 41 cm and her length was 23.25 inches.  At birth, she weighed a mere 1 pound, 7 ounces and was just 12 inches long.  *Updated info* As of Tuesday, Nov. 9th, she weighed 13 pounds even according to the home baby scale we have.

Isaak weighed 11 pounds, 3 ounces.  His head circumference was 40.5 cm and his length was the same as his big sister's.  He was just 1 pound, 11 ounces and 12 1/4 inches long at birth.  *Updated info* As of Tuesday, Nov. 9th, he weighed 11 pounds, 8 ounces according to the home scale.

Penny had an eye appointment last Thursday and her RoP has resolved!  The blood vessels in her eyes have finished growing all the way out to the retina!  She won't have another eye appointment for 6 months.  Yippee!

Isaak's next eye appointment at Duke is on Monday (11/15).  Hopefully, his RoP is almost resolved and there's not any more detachment of his retina.  (Fingers, toes, and, yes, eyes crossed!)

That's all the time I have for now!

P.S.  Thank you to those of you that have voted for the AHC Foundation in the Pepsi Refresh Project!  Your votes are making a difference as they have moved into 4th place...BUT they need to be in 1st or 2nd in order to win the grant money.  Please keep voting daily!  In addition to voting online, don't forget you can vote by text message as well.  That's 2 votes daily!

Guest Blog: AHC Foundation President Jeff Wuchich

We've never done a guest blog before, but I think many of you will understand why we've chosen to do one for Jeff.  His son, Matthew, has Alternating Hemiplegia of Childhood (AHC) which is a very rare neurological disorder and its cause is not known.  Like SMA, there aren't any effective treatments and there isn't a cure.  Getting funding for so-called "orphan" diseases is very hard.  We've seen how hard it is with SMA.  But at least with SMA we know the cause is genetic and research is going towards finding treatments and, ultimately, a cure.  The AHC Foundation is trying to win a $250,000 grant in the Pepsi Refresh Project to determine if the cause is genetic.

This is Matthew.

I'll let Jeff explain more:

Imagine your child suddenly lost the use of one or more of their limbs for minutes, hours, even days.  Imagine these episodes were often painful.  Imagine this mysterious disorder essentially caused parts of the brain to “short circuit”, and affected your child’s ability to learn.  These are the sad realities for those afflicted with Alternating Hemiplegia of Childhood (AHC), an extremely rare neurological disorder.  Only 650 or so cases have been identified in the world!

This 3 minute video provides details as does this article in the Raleigh, NC, News & Observer.

Both feature my son Matthew.   Matthew was born with complications at birth.  He spent the first 10 days of his life at Rex Hospital in Raleigh, NC.  He visited hospitals many times his first 2 years of life (he is nearly 3 ½ now).  There were other AHC symptoms early on, but the primary symptom (the baffling attacks of paralysis in one or more limbs) came at 6 months, which we now know is typical for AHC sufferers.  I say “now” because it took until Matthew was 18 months old for us to arrive at the diagnosis of AHC.   Because it is so rare, the vast majority of neurologists do not know about this disorder.  The agony we went through of knowing something was very wrong with Matthew, but not having a name for it was heart wrenching.  We were fortunate to eventually find doctors here in the Raleigh area who are familiar with it.  Many families are not as fortunate.

But despite our fortune in getting to a diagnosis, Matthew will continue to have a very challenging life.   These attacks often can affect breathing or swallowing.  In fact, we nearly lost Matthew in March of 2009.  There is no known cause for this disorder, no effective treatment, no known cure YET.   The only drug that has any benefit (flunarizine) is not FDA approved, and its benefit is marginal at best.   Unless we discover the causes, treatments, and a cure, Matthew’s future, and those like him, is grim.   The disease name refers to the disease onset; it is a permanent disorder.   Some adults are able to live semi-independent lives performing menial jobs, but many require permanent full time care even as adults. 

Research has been ongoing for several years, but funded solely through the AHC Foundation by families with afflicted children doing grass roots fundraisers.  That is why we are striving so hard to win the $250,000 this month on Pepsi Refresh.   Our idea is simple, straightforward, and ambitiously hopeful at getting to the root cause of AHC.  The project will perform a full genome sequencing on a sample population of AHC patients in the United States.  From this process, we should have identified common genetic mutations.  We will then be able to screen the other AHC patients for the identified mutations & arrive at the root cause of AHC, or at the very least eliminate genetics as a root cause if none is discovered.

We are grateful for any support you can provide to help us win this grant.  We certainly do not want to take focus away from efforts to cure SMA, but as previous winners, you understand the enormity of the task we face.   Thank you for your support.  Easy voting details are below.

Please do all of these each and every day through November 30th!

1. From your computer:

Go to http://www.refresheverything.com/cureahc and click on the VOTE NOW button.   Follow the directions.  Make sure you hit VOTE NOW again after logging in.

2. From your mobile phone:

Text 104112 to 73774 (73774 is in the “to” field; 104112 is in the body of the message)

3. Please share with everyone you know!

Email me with any questions jeff@ahckids.org

Thank You!

Jeff Wuchich, AHCF President

So please take this opportunity to help Matthew and families like his in their battle against AHC.

Thanks!

6 Months? Really?!?

Would you believe the twins are six months old today.

Seriously.

6 months ago today we had just come to the end of a crazy 3 week ride in the hospital and we had no idea how our little ones were going to fare. 25 week micro preemies were Discovery Channel programming, NOT real life.

But it turns out it was our life. It's been a challenging 2 years and it will continue to be but we have some lovable munchkins and memories of another.

Isaak at just a couple of days. Wow.

Penny "sunning".

We now have babies that weigh about 8 times their birth weight. That should happen when they are like 5, not 0.5. And boy are they special little guys. Thanks everyone for all your support. We would never have made it without our beautiful friends and family.

And we really never would have made it without the incredible doctors and nurses at WakeMed and UNC. Y'all are some amazing people.

To celebrate, please take a look at the latest pics.

And video.

(Though give the vids some time. It will probably be a couple of hours before they are completely uploaded).

Isaak's Eye Follow-up and other Weighty Matters

Bekka will have more to follow with details on Isaak's vision and the like, but I thought I'd drop a quick note.

His exam with Dr. Freedman at Duke went really well. The right eye responded to the laser treatment and the vascular growth appears to be normalizing. The left eye did not show any additional retinal detachment and the couple of spots that were hit with the laser also looked like they were doing well. She is optimistic that the left eye will stabilize and there will be minimal or no further detachment. This is not guaranteed of course. Anytime you get retinal detachment, the situation can worsen.

One bit of potentially positive news regards his field of vision. Because his brain is still learning how to see, it should adapt well to the available vision so that it uses the right eye for the central image and merges the left eye's partial vision in a fairly natural way. An adult would probably perceive an actual blank spot in their vision.

We also weighed both kids today. Isaak clocked in at 10lbs and just shy of 6 ounces. That's pretty dang good for his situation and he gained about 5 ounces since last week. Penny, well, that is another story altogether. Our little piglet is up to 12lbs 1oz. It's hard to believe she was 1lb 7oz when she was born and barely 5 when we brought her home. Our little girl is growing up!

Isaak and the Big Field of Vision

A quick couple of links that I've found helpful in understanding Isaak's vision loss.

The first is from Wikipedia and shows photos of visual field loss.

Second is a vision field test from St Paul’s Eye Unit, Royal Liverpool University Hospital.

Lastly, a graphic from Brown University.

Depiction of Visual Field from Brown University

Just in Case You Were Wondering...

...Isaak is, in fact, at home and doing well. His stay on the pediatric floor at Duke was just a formality and he was discharged after one night with no fanfare (though he did make friends with the nurses).

We really won't have an update on the situation with his eyes until Monday morning. He has a follow up appointment at Duke Eye Center with the surgeons.

Otherwise, everybody is doing pretty well. The last official weights we had on these two, Penny was just shy of 11 and 1/2 pounds (I bet she is closer to 12 and 1/2 now) and Isaak was just a tick over 10. So "Little Bit", as I had taken to calling her, really isn't anymore. She appears to be taking full advantage of that intact digestive tract she is sporting to pack on the pounds and inches. Isaak is jealous. Honestly though, if we didn't have Penny to compare him to, I think his growth would look great to us and according to the doctors, his growth really is quite good given his disadvantages.

He had a visit with the GI Docs, GI Surgeons and Speech Therapist at UNC last Wednesday and everyone was pleased with how well he's doing. Amazed really. The surgeons increased the size of his G-tube (since he was a tiny tyke that didn't even weigh 5 lbs when he had his reanastomosis) and were otherwise happy with the way everything looked.

The GI docs have been very happy with his feeding progress and he's now getting 5, 45ml (1.5oz) bottles a day. This is quite an increase from the 3x10ml he was getting when he came home. He's still getting TPN via his Broviac but there is hope we can start tapering that down soon since he's doing so well with his g-tube and oral feeds. They have decreased the amount of dextrose in his TPN and that, combined with the oral feeds, has been great for his liver. His total bilirubin is down to 5.3 compared to 11.6 not long after he came home from the hospital. Remarkably, he barely even looks jaundiced now. Ideally, the bili level would be below 1.2 mg/DL, but we'll take what we are getting now, yes sir!

The speech therapist was making sure he was doing OK with his feeds. When we first began increasing bottle feeds, he was having some trouble developing suction. Apparently, that was just due to inexperience and he is now doing a great job and they did not have any concerns.

I took my first extended trip out of town since last spring...and nothing terrible happened. Things like that really ride in the back of your mind. Grandma Karla is in town too, so that made it a little easier on everyone. I wouldn't have taken off if Bekka was by herself that entire time.

Look for an update on Isaak's eyes later this week and new photos by the end of the month. I'm going to start  uploading photos about once a month just so I'm not chasing my tail all the time trying to keep up.

Isaak's Eyeballs Open Post

Good morning!

We'll keep this open with occasional updates today. Right now (8:35), we are finished with preop and waiting for them to take Isaak back. He's currently asleep in Bekka's arms so I'd classify that as doing OK ;)

To recap: They will be conducting a detailed exam of both eyes while he is under anesthesia. More than likely, they will perform laser ablation surgery on his right eye to help with the RoP issues and to direct retina development into a more normal pattern. Based on the exam, they may also laser areas in the left eye in the hopes of stabilizing the situation and salvaging as much vision as possible. We'll have a much better idea where we stand.

Update (10:00am): We just met with the retinal specialist. The news confirms the pre-op diagnoses. The right eye looks healthy, if a bit underdeveloped for his age. The surgeon is in the process of lasering that eye to dry up a couple of small bleeds to prevent them from expanding and keep his right eye on track.

The left was, if anything, a bit worse than anticipated. They were able to conduct a much more detailed scan of the eye which showed how large the fold was and indicated that there is definite retinal detachment at the center and in a line across the eye back towards the nose. (Ok, had that backwards, it's actually towards the outside of the eye. He is going to have decent outer vision because the inside of the eye is what looks out.)

This is apparently classic stage 4-B RoP. Most of the periphery of the retina is attached, and he should have good outside peripheral vision. The doctor indicated that were this an older person who had developed the same problem, they would almost certainly have performed surgery. In the case of Isaak, this has been going on long enough that he has not developed the neural pathways to learn to see, and the risk associated with cutting the eye open and possibly having to take out the lens is not worth it. We do not know for sure if they are going to laser anything on that side.

Interestingly, he will have to have glasses as he gets mobile mostly to protect his very valuable right eye.We'll have more after meeting with the surgeon.

Update (11:00am): Just met with the surgeon. Everything went swimmingly. His right eye looked good and she hit a few spots of concern (but nothing dire) with the laser. She was very happy with the vascular development in the left eye outside of the folded area and only hit a couple of spots there. She confirmed that both she and the retinal specialist concurred that surgery on the left eye carried far more risk than benefit, especially considering how well attached and developed the unaffected retina is. We will see her again a week from Monday for a follow-up. In the meantime, we apply two different types of eye drops for the next 5 days. That is pretty much it for post-op care.


Bekka is back in recovery with Isaak and I'm waiting for them to move to a normal post-op spot so I can join. After that, we'll wait while they find us a spot in the main hospital tower and go from there. His stay in the hospital is strictly to observe for any lingering effects of anesthesia, from an eye standpoint, he is good to go.


Update (Afternoon): Little guy is happily ensconced in a room on the 5th floor at Duke. Once he was awake, you've never seen a baby so eager to get a bottle of milk! Poor guy had not had formula or g-tube feeds since  midnight, only some pedialyte overnight (just like grownups and anesthesia, he couldn't eat). This afternoon, he's mostly been napping. I'm sure the stress of the surgery plus the lingering effects of being put under have zapped him but good.

Assuming no issues, we'll be outta here first thing in the morning.

Isaak's Eyes are not Smiling Today

Yesterday, we received tough news regarding Isaak. His left eye has sustained damage that likely means he will have little or no central vision in that eye. With a little luck, he will have peripheral vision but that depends on how development occurs and whether the damage progresses.

Last week, his weekly eye exam revealed a fold in the retina of the left eye. This was new, and the doctor in Raleigh immediately scheduled a visit to the Duke Eye Center. We had that visit yesterday and the doctor indicated that the fold went from the outer edge of the retina into the macula. The fold is essentially a ridge of blood vessels and scar tissue that have pulled the retina up.

The macula is critical to central vision (you may be familiar with the condition of macular degeneration). It appears there really is nothing they can do to guarantee improved vision in the eye without putting the overall health of the eye at even greater risk. You also have to take into account the risk of 2+ hours under anesthesia for any potential procedure given his relatively delicate state and young age. If his right eye was also in equally bad shape, they might recommend taking the risks involved to try and salvage more vision.

His left eye has been more problematic from the beginning, and he experienced a large hemorrhage a couple of months ago. It's not unlikely that whatever caused the hemorrhage event led to this situation.

The right eye is doing reasonably well. However, he still shows signs of Stage 3 RoP, and that is concerning at this late age. To that end, they have scheduled a detailed eye exam under anesthesia with likely laser ablation surgery. It's also quite possible they will perform laser surgery on the left eye to help reduce the likelihood of total vision loss. This is scheduled for Wednesday (10/13). Time under anesthesia is pretty short for these procedures (vs. full-on surgery).

Yep, that's tomorrow. Life moves fast when you have preemies.

We cannot lie: This sucks.

Isaak has some of the biggest, most soulful eyes we've seen this side of Ollie and he's been through so much already. It is terrible that this is happening to him on top of everything else. Unfortunately, he seems to be following the path that many boy preemies take: That of most difficulty.

For Cindy R.

I think that many of you may remember the super-cute little knit hats that Ollie wore for his Santa photo shoot (taken by Bekka) and for our shoot in the park by Amanda Milloway. If you haven't browsed those pics, they are worth your while.

Those hats were made by a friend and co-worker of my mom, Cindy R. When she heard about the twins, she immediately set out to make a couple of hats for them just as she had their older brother. As you can see below and in this September album I've just updated, these hats are super cute too.

Bekka decided to juxtapose the 95 degree September beach weather we were having with winter-time knits hats and you can see the colorful result.

Cindy has had some very trying medical issues lately and we hope that seeing these cute little guys in her beautiful work will raise her spirits. If you can spare a moment, say a prayer or send a thought her way, she could really use it.

Best wishes Cindy and thank you so much for caring about our children. Thank you for taking the time during all you are going through to make beautiful art and write sweet notes. We hope they can visit you one day, but for now, enjoy the pictures.

One more thing: Penny says: 

SMILE!