Tuesday, October 21, 2014

Down syndrome is an adventure I never thought I'd have, but I sure do love my tour guide

October is Down syndrome awareness month. Down syndrome is the most commonly occurring chromosomal genetic condition and occurs in every 1 out of 691 births. There are 3 different types of Down syndrome - Translocation (inherited, very rare), Mosaic (pretty rare) and Trisomy 21 (the most common). Gabe has Trisomy 21, meaning he has 3 copies of the 21st chromosome in every cell. A syndrome is a pattern of symptoms that characterize a condition. Here are some characteristics of Down syndrome. Cardiac Issues: Gabe had an atria-ventricular septal defect (AV Canal)repaired at 3 months of age. This is the most common cardiac issue in children with Down Syndrome. It was also the only sign of DS that Gabe had in-utero. About 50% of babies with DS are born with heart defects. Life expectancy of adults with DS is increasing more and more due to the advances is cardiac medicine. We go to the Cardiologist every year. Gabe’s repaired valves have very minimal leaking with very little murmur, so all is well. No medication necessary. 10-20% of babies with AVSD repairs need their mitral valve tightened up some when they get older, but as of now, they don’t anticipate Gabe needing that done. Obstructive Sleep Apnea: Down Syndrome has lots to do with poor muscle tone. Muscle tone includes the muscles in your mouth, throat, and airway. Gabe does have a “floppy airway”. As a result, he had severe apnea as a baby. He has outgrown the apnea and his airway has gotten stronger. Sleep apnea is no longer an issue, but we do see a pulmonary doctor once a year to touch base and monitor for symptoms. He may also get a sleep study from time to time as he gets older. Along with the twitchy airway comes asthma. His bronchioles get inflame some with illness. It is well controlled at this point. Vision: Gabe does have some nystagmus. The tone in his eyes can take some extra strength to focus. He does have glasses which are encouraged, but not mandatory at this point in time. He doesn’t like to have things on his face, so he only keeps them on for 30 minutes or so at a time. He likes to hide them and sometimes he throws them in the toilet. GI: 8-12% of babies with Down Syndrome have some type of GI tract abnormality. Gabe's GI tract is intact, however, he had severe reflux as a baby, right around heart surgery time. This is why he required a feeding tube. Eating and drinking remain works in progress. Chewing and swallowing are a lot to coordinate with your muscles. Other kids with DS may have Hirschsprung Disease where a portion of their colon may be dysfunctional. Many kids with DS have severe constipation. Gabe has neither of these issues. Thyroid Disease and Diabetes: Many kids with DS have hypothyroidism. They also have a slightly higher incidence in developing diabetes. Gabe has neither of these issues. He has thyroid hormone levels measured every year to monitor for this. Hearing: Some children have issues with hearing. Kids with DS traditionally have very small ear canals. Gabe requires PE tubes so his small ear canals stay open. As long as the PE tubes are in place, he can hear just fine. Some kids even have auditory nerve issues and hearing aids are necessary. This is not an issue with Gabe. Dental Issues: Kids with DS have smaller mouths which can cause teeth crowding. Their teeth also come in a little delayed and out of order. Gabe definitely has crowding, but I think it’s more genetic. Blood Diseases: Kids with DS have a higher incidence of ALS (a type of leukemia). They do have a good prognosis with treatment. This is not an issue with Gabe (thank God). He does have CBC measured every year to screen. Atlantoaxial instability: Many kids with DS have neck instability having to do with a gap in the bones in their spine. Gabe has had an xray taken twice to screen for this. Both have come back as inconclusive. It’s apparently really difficult to view and they actually no longer screen for this. They just monitor gait. As of now, there are no obvious signs. The biggest thing is no heavy contact sports and try to limit the somersaults. Alzheimer’s Disease and Dementia: As adults with DS grow older , they can have some regression in memory and learning. This area is still being largely studies as adults with DS live longer. Gabe is learning like crazy right now. Behavior Issues: Kids with DS are often diagnosed on the autism spectrum, with ADHD, with sensory issues, and even depression. Gabe does have some sensory issues. He doesn’t like loud noises (though he is getting better with this). He doesn’t like anyone but a parent to hold his hand and can be frigidity if touched. He also has trouble being still when going to sleep. I know this can be typically with kids, but it kind of reminds me of restless leg. He tends to calm more if he has some pressure on his body. He use to lick objects a lot, which has subsided. He does still like to touch everything and knock things over...because he thinks that's hilarious. We are very fortunate to have good specialists to monitor healthcare and associated diagnoses that go along with DS. I share this because it gives a little glimpse into some of the symptoms you may notice with Gabe, and knowledge leads to greater understanding. Now that Gabe is 5, more peers notice his behavior being different than theirs. I find that if you keep it simple, kids don’t make a big deal out of it. Also, if you bring up similarities, they learn how to play with him more. For example: “Why doesn't Gabe play tag and run with me?” Response: “Gabe is learning how to run and jump. His legs have to work harder to move. You’re a good teacher though. Show him how you do it. Look Gabe’s trying to do it too! Good job trying Gabe!”. "Why doesn’t Gabe talk normal?" Response: “Gabe talks, he can just sometimes be hard to understand. The muscles in his mouth have to work extra hard to talk. It’s like he has a mouth full of marshmallows trying to get the words to come out. Be patient and listen to him and ask an adult if you don’t know what he says. He wants to talk to you”. “What does Gabe like to play?”. Response: "Gabe likes to play hide and go seek. He also likes to read books and play I spy. Do you want to play those games with him? Gabe is beginning to come out of the side by side play stage of development and begin really engaging with peers. It's exciting to see. I've also recently discover some books: We'll Paint the Octopus Red is a good one for siblings. My Friend Isabelle is good at explaining all differences and special needs. My Friend Has Down Syndrome (Lets Talk About It) Happy Down Syndrome Awareness Month! Knowledge = Power