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!