February is Down Syndrome Consciousness Month. When Noah’s doctors suspected that he may have DS, I went online right away and researched everything I could about Down syndrome. The amount of information available out there is overwhelming and there was a lot to process. Some were very cold and clinical in their approach, rattling off characteristics and the health conditions of kids that have DS. Some resources were compassionate and parent-friendly as if they knew that the parent at the other end of the computer screen was frantic and needed to be calmed down.
In retrospect, when I was looking for information (madly I might add) on DS, I could have avoided overwhelming myself and have just stuck to a few facts at first then slowly eased my way into other resources. I read most of the literature I could find about DS but there are basic truths about the condition that I feel every one must know to understand Down syndrome better. And now I feel that I know enough about it already so that Noah can have the best care that he needs without me going into panic.
If there is anything that anyone needs to know about Down syndrome, here are four facts to start with:
1) Cause – According to our geneticist, 1 in every 800 babies are born with Dpwn syndrome (DS). DS is a genetic condition that results in the 21st pair of chromosome to have an extra copy resulting in a trisomy. Trisomy 21 is the most common kind of Down Syndrome and is the one that Noah has. A typical person has 46 chromosomes, a person with DS has 47. The other two types of Down syndrome are translocation and mosaicism.
There is no known cause of Trisomy21. It is a random and spontaneous occurrence which begins at conception (yep when the sperm met the egg, ganun ka-aga) thus the extra chromosome is carried all throughout Noah’s cells. It is not hereditary and there are no preventive measures for this condition. Although the incidence of babies with DS are born to mothers of an advanced maternal age, 80 percent of babies born with DS are to moms who are younger than 35. (I was 34 when I had Noah, which makes me uhm, a young mom haha).
2) Diagnosis / Tests / Markers – Here in the Philippines, we do not have the prenatal screenings that would rule out DS. The Congenital Anomaly Scan at 26 weeks can only give you markers and probabilities that your babe may have DS or any other chromosomal conditions. When I had my CAS, Noah did not have the markers for DS however, his size was small by two weeks. Looking back it may be because Noah has DS but it was not brought up during my consult with my OB. His small size was attributed to Intrauterine Growth Retardation and I was put on bed rest for three weeks. (To see what markers are looked at during the CAS click here)
“Enjoy the baby, don’t google and if he does have DS, there is a great support system here in the Philippines”
Noah was diagnosed after he was born via a test known as karyotyping. Before that though, Noah exhibited a few of the physical characteristics that kids with DS have which led to the “talk” between us, his neonatologist and geneticist. Dra. Padilla led the discussion and she told us that she looks at 10 markers and Noah has around 2. She wanted to be sure so she ordered a test called karyotyping. Her concern at that point was me and Dan, more than Noah. She probably saw how distraught we were and so she gave us this great piece of advice “Enjoy the baby, don’t google and if he does have DS, there is a great support system here in the Philippines for families”. Tough words to live by at that time but I’m glad that Dra. Padilla was there with us from the very beginning. She was calm and reassuring. She also told us that the reason why she wanted the karyotyping done so that as soon as Noah is confirmed to have DS then we can start the tests that would rule out the common medical complications associated with DS.
(To see what the most physical characteristics are of Down syndrome click here)
Karyotyping involves getting a sample of blood. From that sample, the chromosomes are then isolated and stained and they are matched up pair by pair. Below is a picture of Trisomy 21 (not Noah’s). I have Noah’s karyotype in his medical folder. It’s his genetic make-up on a piece of paper, all neatly arranged. It’s amazing how a tiny “abberation” can result in such a huge impact on a person, a family and a community.
It took us a month to get the results. I remember being so worried and nervous. In my heart of hearts I knew that Noah has DS but Dan said, so what if he does? Getting the test results confirming T21 was a day I will never forget but it catapulted us to #3.
3) Early Intervention – As soon as Noah was diagnosed with DS, his geneticist set us on a course that began Noah’s Early Intervention program. The program is a suite of tests and doctors visits that are important in managing the health conditions associated with DS. Noah is only 4 months old but he has gone through the following tests and has the following doctors:
a) 2D Echo – Heart defects are often present for children with DS. One of the things that was monitored during Noah’s stay in the NICU is the presence of a heart murmur. 50 percent of kids born with DS have heart murmurs which means that a heart defect is present. Of the 50 percent of kids who have no heart murmurs, 20 percent have heart problems. As soon as Noah was diagnosed with DS, he was scheduled for a 2D echocardiogram with a pediatric cardiologist referred by Dra. Padilla. Dr. Jonas Del Rosario is Noah’s cardiologist. His clinic is at the Philippine Children’s Medical Center.
Noah has a small atrial septal defect. The hole is small and measures 2.34mm. According to Dr. Del Rosario, the hole is small enough and it should close spontaneously after 6 months. Holes that are 5mm and above need to be checked and monitored further. Our next visit with Dr. Del Rosario is on May 2013 – 6 months after the initial 2D Echo to see if the holes have closed.
b) Thyroid test – Kids with DS are at risk for hypothyroidism. The firing of hormones need to be maintained and managed so that the hormones responsible for growth and mental development would always be balanced. Noah is taking a thyroid medication nightly because his TSH (Thyroid stimulating hormone) is a bit high and his bowel movement is irregular. Our pedia endocrinologist is Dr. Caridad Santos.
c) Hearing Test – Newborns are giving a hearing test known as the Otoacoustic emission Test (OAE) at birth. The results of the test are either Pass or Refer.
A baby can be given the OAE up until he is three months old if the initial screenings show “refer”. It’s important to note that “refer” does not mean fail. It only means that the baby should be referred to a more conclusive hearing test. Noah took the OAE 8 times. Both of his ears did not register until his third month when only his right ear passed. We scheduled him for a BAER (Brain Auditory Evoked Response) so that we could get see if Noah does have a hearing impairment or not.
The test involved the placement of three electrodes on Noah’s head and small microphones in his left and right ear. A technician then measured the responses from Noah’s brainwaves to different frequencies.
It goes without saying that the child needs to be in deep sleep for the procedure. Noah was given 1.5ml of Benadryl to make him sleep. But it didn’t work as the little dude woke up during the procedure! Thankfully we had a kind and patient technician who worked and waited with us. What should have been a one hour procedure became 2 hours.
The test results were released after 3 days. Noah’s hearing in both ears is normal. However, given that babies with DS are at high risk of hearing loss (80%), we need to repeat this test in a year.
d) Vision Test – Pedia Optha – Kids like Noah who were born prematurely are regularly screened for a condition called the Retinopathy of Prematurity, which affects the blood vessels of the eyes. When Noah came home from the NICU, his retina was still premature. So we had to go a pedia opthamologist to see if his ROP had healed. We went to Dra. Patricia Yukiji Villa who was referred to us by a good friend (thank you Jen!). Noah’s eyes needed to be dilated for her to check if his ROP had healed. So anesthetic eye drops were given to Noah and a speculum was used to check Noah’s eyes. Dra. Villa actually asked if I wanted to step out of her clinic because the procedure might be too much for me to bear. I said I’ll be ok and that I needed to know what’s going on with my son.
During that check, Noah’s ROP has almost healed. Our follow-up is this February to see if Noah needs corrective eyeglasses. Kids with DS are at a high risk for vision problems too. Given that in my side of the family, we all have poor eyesight, Noah might need a pair for himself soon.
e) Physical Therapy – Noah goes to physical therapy once a week at ALRES . Kids with Down Syndrome often have hypotonia, which is weak muscle tone. The PT sessions intend to strengthen kids like Noah so that by the time they’re ready to crawl, creep, sit-up and eventually walk (and run!), their neck, core and trunk muscles are strong. I have to stress that these sessions are not intended so that Noah can reach his milestones on time. Kids with DS have a different timetable altogether and it takes some time for them to do certain movements that typical kids do.They also need to be taught certain movements that come spontaneously to other children. So PT sessions consist of a lot of positioning techniques that teach Noah how he should move so that he could do certain by himself such as rolling over for example.
David attends the sessions too. While Noah does his thing, he plays with some of the toys/teaching aids in ALRES. David was curious why Noah goes to “school” and so I took that chance to show him what Noah does and why he does it. I wanted for David to realize that this is something typical for our family and for Noah to be doing. I also wanted him to see older kids with DS like Ate Aisha and Ate Angela who both have sessions after Noah. I tell him that Ate Aisha has DS just like Noah, which David just shrugs off — an answer that I wish would stay with him even when he grows older. It’s the equivalent of “ah, ok he has DS, so? tara laro tayo!”
4) Support -DSAPI. This is one of the most important steps any new parent of a child with DS should do. Finding the a good support group is absolutely important if you’re starting on your path as parents of a child/children with special needs. The right group can offer you comfort and can listen to you without judgment when you pour your fears and hesitations to them. It really makes a difference if the person you are talking to completely understands how you feel when your son is taking his 8th hearing test or if you tell them how you’re sick of the hospital and all the tests and all the poking your kid has to endure. More importantly they can guide you and give you tips on how best to handle your situation. The veteran parents of DSAPI have provided me and Dan with really wonderful insights on raising Noah. What I love too is seeing pics of their kids when they were babies, 10, 15, 20 years ago and seeing them now and seeing how they are –perfect pictures of fearless families who have gone on to their “new normal”.
To join DSAPI click here.
If you’re a new parent reading this or if you know a friend or a relative who has just received a diagnosis, let me first say CONGRATULATIONS! The birth of a child is a miracle in itself 🙂 Take care of yourself and get enough rest and sleep 🙂 Let me echo a piece of Dra. Padilla’s advice: “Enjoy the Baby, Don’t Google” Also, join the DSAPI page right away! There are a lot of parents there who can guide you and celebrate your child with you. The DSAPI will be holding the Happy Walk this month too see the events page for details.