DS 101: Medical & Health Concerns

With that extra chromosome being in every single cell of the body, it does effect the body systems and can cause some internal abnormalities. Some people with DS have few - if any - health concerns, some have many. The health outlook for many, even those with many concerns, is very good thanks to better, more proactive medical treatment.

*Heart: congenital heart defects (congenital means present at birth) are common in children with DS. About 40-45% are born with heart defects. Heart defects are serious problems in any child - when they are most severe they can threaten the baby's life soon after birth and require immediate surgery. Even those that don't require immediate surgery can't go untreated and most children with heart defects will require several surgeries over their lifetime (not to mention the big impact on their everyday life). Because of the higher likelihood of heart defects in babies with DS, they are all extensively checked for the first few days and months of life. Grant was given a clean bill of health in the heart department - something we are very grateful for.

*Gastrointestinal: since this body system includes the esophagus, stomach, and intestinal track, there are numerous potential problems in this area. GI problems are still less common than heart problems (babies with DS have a 10-12% higher chance of being born with GI issues). These can include reflux diseases, some digestive problems, and structural abnormalities. The last one is where Grant comes in (where he missed having any heart problems, he sure got some GI issues to deal with)! Story time!

Grant in the nursery before transport to UCLA & surgery (3/24/06)

Just minutes after Grant's birth, the doctors couldn't get a line all the way down his throat. So they did some X-rays and discovered that he had something called a TEF / EA (Tracheo-esophageal fistula with Esophageal atresia). You can see why we just call it TEF. Basically, his esophagus (the tube that takes food from your mouth to your stomach) didn't grow together - a top half and bottom half developed, but just not connected together AND a small part of his esophagus connected to his trachea (the breathing tube). Those are big problems and if not fixed are life-threatening because things swallowed could get into his lungs and, more importantly, without a connected esophagus down to his stomach, he couldn't eat at all. (It's scary to think that had he been born around 100 years ago, he would have died in less than a few days from malnourishment and lung problems.)

Grant just after surgery at UCLA (3/24/06)

Grant had to undergo major surgery the day he was born to repair all this and he was transported from our hospital in Lancaster, CA, to UCLA. This surgery is what partially led to our very long hospital stay, but this wasn't the last surgery he had before leaving the hospital. Over the course of our stay and after we waited for him to heal, we realized that he was having swallowing & eating problems because 1) he had to wait at least 10 days for his esophagus to heal before attempting to eat by mouth and lost all that valuable eating-practice time (did you know eating takes practice? He did get IV nutrition and pumped milk directly into his stomach during this time). The 2nd reason was related to his esophagus structure - because those now joined parts didn't grow together, they were struggling to work properly together and get all the food going in a downward direction. He was only able to eat very little by mouth and got the rest of mommy's milk through a nose-to-stomach tube (called an NG tube) for more than a month.

the NG tube (5/3/06)

When we realized that this issue wasn't going away anytime soon, we decided to instead give him something called a G-tube. It's a tube that goes directly to the stomach and is accessed under his shirt. Also, in fear that he would reflux and not have the ability yet to protect his airway, it was decided to also do a Nissen fundoplication (wrapping of the top part of the stomach around the base of the esophagus to prevent reflux/spitting up). With those two things to do, it meant surgery #2 and an extended hospital stay.

after the G-tube placement surgery - bye bye NG tube (5/17/06)

kickin' it at the beach - rockin' the G-tube a year later (6/07)

When he came home, he brought with him lots of fun medical "toys" for us to play with and he got the majority of his food by G-tube for the first year of his life. You don't realize how difficult it can be to coordinate everything: suck/eat, swallow, breathe! Then slowly, he got better at eating by mouth (the best with more and more solid foods), then drinking by mouth - - fast forward to February 2009 - - and we are happy to report that as of right now - - - he's G-tube FREE!!!! Did you get that?? I'll repeat: after 2 1/2 years of the G-tube, it's OUT and he eats & drinks enough to sustain his weight. Considering his beginning, he's doing wonderfully now and can eat and drink pretty much anything he wants to. I'm still in shock - I thought we'd never get rid of that G-tube.

Phew - sorry for the long story. Back to a brief list of the other medical stuff.

*Respiratory: problems with sleep apnea can occur and sometimes noisy breathing from larger tonsils and adenoids. About half of kids with DS get their tonsils out.

*Vision: close to 70% of children with Down Syndrome have some type of eye problem. They are similar to the problems other children face, but just occur at a higher rate. Crossed eyes, nearsighted/farsightedness, and astigmatism (I talked a tiny bit about it in a post about Grant's glasses a few weeks ago). Blocked tear ducts can also be a problem and can cause there to be more goop around the eye, especially when they are sick. It's been a minor/major problem with Grant for a long time now and he had a minor surgery (more of an outpatient procedure) done to open the tear duct more fully.

*Hearing: Many studies report that between 40-60% of children with DS have a hearing loss. Conductive hearing loss can come from buildup of fluid in the middle ear and frequent colds. The tubes in many children's ears are quite horizontal for a time and it makes fluid drain away more slowly, which is why all children tend to get more ear infections when they are young. The ear tubes of a child with DS can also have this problem, plus they are much smaller and narrower. That also makes it harder for the pediatrician to even see into their ears and why we usually go to an ENT specialist for all his ear/hearing needs.

A sensorineural hearing loss happens when there is actual damage to the inner ear and nerves (usually a congenital I believe). Hearing loss related to middle ear fluid is the most common and challenging. Like many other children, Grant has had ear tubes to drain the fluid. The problem with any type of untreated hearing loss - in any child - is that language and speech depend on hearing. Many children with DS receive many hearing tests to make sure we can solve or prevent any problems (hearing aids being one solution). So far Grant is showing no real signs of hearing loss - his speech is already delayed because of the nature of Down Syndrome, throwing a hearing loss into the mix would only make it worse.

*Leukemia: happens in about 1% of people with DS - not much, but it is about 20 times higher than in the general population. More and more children are surviving leukemia, especially if detected early. A classmate of Grant's - same age as him and who also has Down Syndrome -was recently diagnosed and we hope and pray the same is true for that little one.

*Life Expectancy: that extra chromosome and it's potential & actual health effects usually contribute to a shorter life expectancy. Recent studies have shown that expectancy to be as high as around 50-60 years - that's up quite a bit from about 20 years ago when it was around 30 years and even greater than the expectancy more than 20 years ago. This is in part because of better health intervention, information, and medical technology improvements. It saddened me deeply when Grant was born to learn that we would likely out-live him. But, I keep that concern for another day, especially since medical improvements are such that who knows what the expectancy will be 30 years from now.

* * *

The numerous health issues - ones now and ones possible in the future - are the only thing I downright don't like about Down syndrome. Even for a child with very few, minor health issues, it means even more trips to the doctor, even more waiting-room-sitting time, and even more calls to insurance and the doctor's offices. It's enough to make you crazy sometimes. Even if no present problems exist, nearly all kids with DS visit various specialists just to rule things out. At one time, Grant had around 6 specialists we saw pretty regularly (that's not also counting the therapists visits in office and at home). Thankfully, that number has gone down a tad for now, but let's just say that Grant getting shots at the pediatrician a few times a year is the least of what he's been through.

I've always felt that somehow God made up for all this medical 'junk' that we have to wade through by giving Grant such a sweet, funny personality. At the end of the day, he makes it all completely worth it.

Glad you made it! Only one thing left...*Beyond the Facts (in other words, more of my own blabbering)