First and foremost, congratulations on your little one! Whether you received a prenatal or post-birth diagnosis, hearing that your child has Down syndrome is scary. It leaves you confused and realizing life is not going to be all that you had hoped for your little one.
There is a lot tied to this condition that you need to know. As you work through your own emotions and insecurities, know that this is the best time in history to care for someone with Down syndrome. There are decades of research that go before you to help you give your little one the best life possible.
What Is Down Syndrome and Why Does My Baby Have It?
Trisomy 21, also known as Down syndrome or DS within the community of parents and caregivers, is a duplication of the twenty-first chromosome. Trisomy is the medical term for a third copy of a chromosome, and 21 indicates which chromosome it is.
Hear this: there is nothing you did to cause your baby to have this duplication. This actually occurs early in pregnancy in the majority of cases. As the egg is splitting, one of the splits does not happen properly, and an extra copy is carried to one side of the split, leaving the other side without a copy at all. Typically, the cell without the copy will die. To understand this process, consider watching this video that explains the process of miosis and translocation of a chromosome.
Some research suggests that an MTHFR gene mutation greatly increases the risk of a cell-division error like DS. This mutation inhibits folate in the body, which is needed for the cells to separate properly.
Are trisomy 21 and Down syndrome interchangeable words? Among parents, they are commonly interchanged. However, when speaking with care providers, the terms are distinctly different. Where the term trisomy 21 refers to the extra copy of the chromosome, Down syndrome refers to all of the accompanying symptoms and conditions that are caused by that extra chromosome.
How Is Down Syndrome Diagnosed?
There are some physical characteristics common among people with DS. However, the only way to conclusively diagnose the condition is through a blood test with genetic mapping.
Some of the common physical characteristics include the following:
- Decreased or low muscle tone
- A flatter facial profile and nose
- Small ear canals and nasal passages
- Wide hands with short fingers
- Upward slanting eyes
- A single deep crease, or wrinkle, across the center of the hand
- A deeper space between the first and second toe
Some genetic screenings can detect trisomy 21 in the prenatal stage. However, these are only screenings and provide a risk assessment, and they are not diagnostic. The only way to receive a conclusive prenatal diagnosis is through one of two diagnostic tests: amniocentesis or chorionic villus sampling. Both of these carry a risk of causing a miscarriage.
What Concerns Should I have for My Baby?
Trisomy 21 itself is just an extra copy of genetic material. It is what this extra genetic material does in the body that creates concern and medical problems. Here are some of the corresponding secondary diagnoses:
These can be anything from minor murmurs to major structural issues. When your baby is born, he or she will likely have an echocardiogram to look for these defects. If significant defects are found, they will require immediate surgery to correct.
These can be anything from low stomach acid causing reflux to significant defects in the intestinal tract. The latter requires immediate surgery to correct, while the former can be managed through diet and medication.
Thyroid problems are very common among children with DS, usually manifesting in hypothyroidism. Your pediatrician will keep an eye on thyroid function through regular blood tests. If thyroid problems occur, they are commonly treated with medication.
Leukemia is a major cause of death among those under the age of ten with DS. Unfortunately, these kids are ten to twenty times more likely to develop leukemia than genotypical children. This is commonly monitored by regular blood tests. If it is detected, chemotherapy is commonly prescribed treatment.
Other Non-Urgent Issues
There are a number of other minor issues you will need to address to give your little one the best possible development, but these are not life-threatening issues:
- Slow growth
- Hearing problems
- Vision problems
- Sleep disorders like apnea
- Celiac disease
- Dental problems
- Early neurodegenerative diseases
Where to Get More Information
One of the best things you can do as you wade into this new and scary world is to surround yourself with people who have been where you now find yourself. Find a local group through the NDSS, or look for one on Facebook. Also, consider digging into more of the research on Down syndrome biochemistry. In this research you will find how to better support proper cellular function, negating many of the problems commonly associated with Down syndrome.
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