This week I'd like to tell you about the medical problems that can affect babies and children with Down syndrome. Again, these issues will not all affect every person with Down syndrome, but they are all possibilities. Our son will likely get a grab-bag selection of issues. We're hoping for as few as possible!
I considered breaking this post up in to a couple of posts, but I wanted you to see the overwhelming massiveness of this list. If this is more information that you really want to read, just read the text in bold and you will get the gist of the medical problems and the treatments used in the worst cases.
You can also skip to the bottom for my overall thoughts on the list, including treatments.
Heart Problems40-60% of infants with Down syndrome are born with some sort of heart defect. On a personal note, we've had an echocardiogram (via ultrasound) on Spencer and so far, everything looks great. Some heart defects cannot be detected prenatally, though. The defects are usually in the walls between the upper or lower chambers of the heart. Some of these defects will close on their own within a few months. Other, larger, defects require surgical repair. There are other possible heart defects, but they are far less common.
Some heart problems can be found through physical examination, but others require a specialist. It is recommended that babies have an echocardiogram soon after birth.
Traditionally this surgery was done in two parts, the first involving placement of a colostomy bag for several months. The procedure is more commonly done in one surgery now. The procedure solves constipation, but children that must lose long segments of colon may require special diets for the rest of their lives to avoid malnutrition.
Celiac disease is not terribly common in children with Down syndrome, but they do have a higher risk of developing it. Babies are not at high risk because they don't usually eat a lot of these grains over a period of time.
This disease is diagnosed by performing a biopsy. This is actually done by going down the throat, while the child is under sedation. Blood tests can detect the risk of Celiac disease. It is treated by completely removing all offending foods from the diet.
Umbilical HerniasThis is not a dangerous condition. Sasha had an umbilical hernia and it went away by her first birthday. If an umbilical hernia does not go away by the second birthday, it can be closed using a simple surgical procedure. Surgery is not, however, medically necessary. An umbilical hernia is a gap in the muscles, sometimes causing the belly button to protrude.
EpilepsyChildren (or adults) who have multiple seizures not associated with fevers are diagnosed as having a condition known as epilepsy. It affects 5-10% of people with Down syndrome. Actually, true diagnosis is made using an EEG (electroencephalogram). Children are usually diagnosed and treated by a neurologist. Epilepsy seizures are most common in the first two years of life and then resurface again in the late twenties.
Children with Down syndrome generally respond better to anti-seizure medication than children without Down syndrome. Babies with Down syndrome may experience different types of seizure, but any baby experiencing a seizure for longer than 5 minutes should be seen by a doctor immediately.
Children with Down syndrome are currently screened (using x-rays) at age 3 for AAI and again around 10-12 years. If AAI is found, an MRI is then done to check for any spinal cord injury and determine whether surgery is necessary.
Ear, Nose, and Throat Problems
Hearing tests are routinely performed on all newborns in the US these days (using an OAE or otoacoustic emission test), but children with Down syndrome should continue to be tested annually until they reach their teen years. Hearing loss can delay speech development, so you want to know as early as possible if there is a problem.
Chronic fluid problems in the middle ear or chronic ear infections should be treated aggressively and can be improved with placement of tympanostomy tubes. These small plastic tubes (placed surgically by an ENT) help equalize the air pressure on both sides of the eardrum, preventing the buildup of fluid.
Thyroid ProblemsThyroid disorders are very common in people with Down syndrome.
DiabetesType 1 diabetes is more common in children with Down syndrome. This is not common in the first year of life for children with Down syndrome, but can show up at any age.
Dental ConcernsChildren with Down syndrome do not get their teeth in the same order or on the same timetable as other children. Teeth usually come in much later than in other children. Cavities are not common in children with Down syndrome, but they are at a higher risk for gum disease. Children with Down syndrome should see a dentist familiar with the problems associated with Down syndrome by their second birthday.
ImmunizationsEverything I've read so far suggests that children with Down syndrome follow the normal routine for immunizations. Down syndrome can cause decreased immune function, so annual flu vaccines are also recommended. That said, I have not had my last two children vaccinated against anything and am not likely to have Spencer vaccinated, either. This is a very personal decision and each parent must make the best decision for their own children.
I am not a doctor of any sort. This is information I gathered (mostly from Babies with Down Syndrome) and paraphrased. If you have any specific concerns, please ask your own pediatrician / doctor.
Not only are some of these conditions scary (leukemia?! hello?!), but often times the treatment sounds scary. One surgery is bad enough, but imagine if your child required surgeries for multiple health conditions. That is the picture I wanted to paint for you here.
This is also one way to show why I feel I had a new hobby thrust upon me. That may sound like I'm making light of the situation, but I assure you I am not. I have put together a binder with tabs for each of these categories. I have already been stocking the binder with Spencer's medical records (such as the echocardiogram). I have a "To Do" section in the front where I can write reminders of upcoming concerns.
None of this even touches on the therapy children with Down syndrome need. There are several different types and I plan to have a secondary binder for that. I already carry the first binder with me to medical appointments.