The Delaney Ott-Dahl Foundation

There are diverse forms of Down syndrome that have been recognized and documented. Understanding these types has been facilitated by the advancement in the study of genetics. Moreover, persons suffering from this condition are at risk of contracting various other diseases. This means that they spend the rest of their lives struggling with the diseases. If not managed, the victims could succumb to these diseases. This article will give an insight into the types of Down syndrome, the risk factors associated with the condition and how a pregnant mother is diagnosed.

Trisomy 21

Also known as non-disjunction, it constitutes 90-95% of all the Down syndrome incidences that occur. The condition a genetic disorder but trisomy 21 is not hereditary. This simply means that kids born from parents with this genetic condition do not necessarily suffer from the condition. Its occurrence is based on the failure of 2 of the mother’s 21 chromosomes to fully separate. Once this occurs, these chromosomes are then integrated into the sperm or even the mother’s egg. This gives it the non-disjoint name. Once the egg is fertilized the 47 chromosomes are formed and replicated into every body cell of the foetus.

Mosaicism

This is another form of Down syndrome that constitutes at least 1% of all the documented cases of Down syndrome. Unlike trisomy 21, mosaicism is rare. Its occurrence is based on the replication of the additional chromosome into a number of the body cells when the foetal cells begin to divide. This creates a case where some cells are normal while others have the extra chromosome. Essentially, the persons suffering from this kind of Down syndrome show partial characteristics of the same with less partial features and symptoms. The condition can also arise from the non-disjunction which occurs a short while after fertilization. Thereafter, a mosaic of normal and abnormal cells from where some cells contain 46 chromosomes while others contain 47 chromosomes.

Robertsonian translocation

Another type of Down syndrome condition is the Robertsonian translocation characterized by the infusion of part of the 21 chromosomes with chromosome 14 or at times other chromosomes. The condition leads to the development of cells with a normal number of chromosomes but one of the cells contains an extra genes set that originates from the attached replica of chromosome 21. Mostly, patients suffering from this type of condition take up approximately 4% of the total number of documented cases. Children born from a person with this kind of condition can inherit the genes. This makes the condition hereditary unlike the other 2 types of Down syndrome.

Risk Factors

Generally, Down syndrome is associated with a number of conditions that if not taken care of can be life-threatening. Most of these conditions can affect any body system or any organ which means that they should always be kept in check. Usually, almost half of all the victims of Down syndrome suffer from a heart flaw. Additionally, the victims of this conditions are at a high risk of suffering from thyroid conditions, epilepsy, childhood leukaemia, Alzheimer’s disease, hearing difficulties and respiratory problems. A few cases of cancer, diabetic retinopathy and artery hardening have been documented in a number of victims suffering from Down syndrome.

Diagnosis

A number of tests are carried out on women with a higher chance of getting children with this condition. Diagnosis may involve screening of the pregnant mother. This test shows the probability of the foetus to be suffering from this condition. Other tests give exact results on whether or not the foetus is suffering from Down syndrome. Due to the fact that the risk of women to conceive a child with such a condition increase as one age, genetic screening of pregnant women between 30 to 35 years is done. It can be done through genetic ultrasound, cell-free DNA, integrated screening, quadruple or triple screening, and nuchal translucency testing. Moreover, diagnostic tests can be carried out. These include percutaneous umbilical blood sampling, amniocentesis and chorionic villus sampling.

Conclusion

Down syndrome is not a condition that should be ignored. It calls for either screening or diagnosis of the mother before birth to establish if the foetus is suffering from the condition. Therefore, pregnant mothers should visit the doctors to establish the appropriate measure to take. Once it is established that the child is suffering from one of the three types of Down syndrome, care should be taken to protect them from the life-threatening risk factors and give the kid a long and productive life.

Down Syndrome Causes, Symptoms and Treatment

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Down syndrome which is also known as Down’s syndrome or trisomy 21 is a condition where newborn babies tend to possess an extra 21 chromosome. The condition is thus associated with delays in both mental and physical development. Such forms of disability tend to shorten the life of the kid. Nonetheless, a person can be suffering from this condition and still live a fit and enjoyable life. Technological advancements in the field of medicine, as well as the support from the family members and the community, have helped a great deal to ensure the survival of the victims of downs syndrome.

Causes of Down syndrome

Trisomy 21 is a hereditary genetic disorder where the parents transfer their genes to the siblings. Chromosomes are the carriers for genes hence the ailing genes are carried easily carried from the parent to the sibling through the chromosomes. Each of the baby cells that forms should be having a total of 46 chromosomes represented by 23 chromosome pairs. The chromosomes come from both the mother and the father where each of the parents contributes half of the chromosomes in a cell. It happens that at times, one of the chromosomes does not properly separate in the offspring. When this happens, the kid will have three duplicated chromosomes. The partial chromosome that exists leads to 21 chromosomes. The extra chromosome is associated with disability in the brain and physical development. Down syndrome is one of the most common genetic disorder in the United States. It has been estimated by the NDSS that one among every seven hundred kids in the United States suffers from this condition.

Symptoms of Down syndrome.

If a mother is carrying a kid that has this type of condition, the probability that of early detection is very high when screened during pregnancy. This makes it necessary for the pregnant mother to undergo this kind of screening in order to determine if the fetus has Down syndrome or not thus helping prepare the mother. It is essential to note that pregnant mothers are not affected in any way for carrying an unborn baby that is suffering from this condition. Simply, the mother does not show any symptoms despite being a carrier of an ailing baby. Once the baby is born, there exist various characteristics that indicate the existence of this condition. Such babies will be having poor muscle tones, their ears are atypically shaped, they have upward slanted eyes, they also have a bulging tongue, a short neck, the head and the ears are small and their facial features are flat.

Most likely, the kid with this condition will be of an average size at birth but the rate of growth and development will be slower than that of the normal kids. Mild to moderate developmental disabilities are the most common characteristics of the people suffering from this condition. Due to the delay in social and mental abilities, the child could be a slow learner, could have a short attention span, suffer from poor judgment or even have impulsive behaviours

Down syndrome treatment

Unfortunately, there is no known cure for this condition which implies that the condition can only be managed. However, there exist educational as well as support programs that provide all the necessary information to support the families and the people living with this condition. Some of those educational programs are available in the NDSS platform. To ensure that the program succeeds, it is advocated for early intervention, especially during infancy. It is a requirement for qualified families to undergo therapy programs in order to equip them with as much information as possible on how to support the person suffering from Down syndrome. Therapists alongside special education teachers facilitate learning of the affected kid. These help the kid to learn cognitive abilities and languages, motor skills, self-help skills, social skills, and sensory skills among other essential skills in life. If knowledge is continuously imparted into the minds of such kids, they are able to meet age-related milestones despite their slow learning abilities.

Conclusion

People suffering from Down syndrome should not be neglected. This would worsen their condition and at some point lead to early deaths. Instead, they should be presented to the special education teachers and families who help them grow healthy in different stages of life. The family members of the kids suffering from this condition should also enrol in the programs that impart them with the knowledge on the best way to live with these kids. With love and care, the kids can grow to achieve their goals and live a happy life.

Resources

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Local Down syndrome Support

One of the best things you can do right now is call and visit your local Down syndrome association, group or organization. They can answer a lot of your questions, refer you to a Down syndrome Specialist, Pediatricians who are knowledgeable about Down syndrome, and introduce you to support groups. The NDSS is a great place to start, you can check their list of local affiliates here http://www.ndss.org/Resources/Local-Support/

Online Support

The National Center for Prenatal and Postnatal Down Syndrome Resources at the University of Kentucky’s Human Development Institute oversees three medically reviewed programs that complement each other in providing important resources and information for new and expectant parents learning about a diagnosis of Down syndrome:

Brighter Tomorrows – Provides a comprehensive website with information in English and Spanish for new and expectant parents learning about Down syndrome. Includes the most current research about Down syndrome, links to resources, and life glimpses.

Lettercase – Offers the Kennedy Foundation’s “Understanding a Down Syndrome Diagnosis” booklet that was prepared with assistance by representatives of the national medical and Down syndrome organizations. The booklet is intended for pregnant women first finding out about a prenatal Down syndrome diagnosis. Includes basic information about Down syndrome and about families who have a child with Down syndrome; potential medical complications; resources about Down syndrome; and reproductive options

Down Syndrome Pregnancy – Offers a website with a blog for women who are pregnant and expecting a baby with Down syndrome. Also includes the books “Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome” and “Your Loved One is Having a Baby with Down Syndrome” available as free digital downloads or printed books from the distributor, Woodbine House.

Down Syndrome Diahttp://www.dsdiagnosisnetwork.org/

Facebook

Definitely check out IDSC Prenatal Diagnosis page on Facebook where you can talk to many women who have also recently had their babies diagnosed with Down syndrome or are on the other side.

The Down Syndrome Diagnosis Network (DSDN) Facebook page supports families with current information and real-life accounts of life with Down syndrome during the prenatal, newborn, and early childhood phases.

Facebook also has tons of fan pages with tons of real life information, pictures and stories of people with Down syndrome. A few of our favorites:

Delaney Skye – Become one of Delaney’s followers to see pictures and videos documenting her accomplishments! See what can be achieved with early intervention.

Blogs

Delaney Skye – A day in the life of a child with Down syndrome who has been given early intervention. Delaney Skye was born on July 2, 2013 & has been receiving 3 therapies a week, plus supplements. This plus a whole lot of love & treating her just like any other baby is why her family believes Delaney is hitting all her milestones within the “typical” range.

The Sumulong 3 – Follow the Sumulong family on their adventures with Owen who has Down syndrome.

Big Blueberry Eyes – It’s about life being a military family while raising 2 kids, daughter Kayla has Down syndrome.

Giggle and Hugs – Life with our daughter Lily – lots of medical/developmental stories and others about adoption and family life.

A Little Moxie – Meriah, deaf mother to Moxie who has Down syndrome, shares about traveling, disability and parenting.

Kimchilatkes – A positive chronicle of a family raising children all along nature’s continuum. They homeschool and the littlest “tater” has Down syndrome.

My Stubborn Little Miss – Faith, life, Down syndrome, photography, teaching, family, and a three year old named Ellie.

YouTube

There are so many amazing role models showing you what your child can achieve. To get a good idea of what a person with Down syndrome can accomplish, check out some of these videos:

Dr. Karen Gaffney – Karen Gaffney has quite the list of accomplishments on her resume including the first living person with Down syndrome to ever receive a doctorate, is known worldwide for being the first person with Down syndrome to complete a relay swim across the English Channel, and she has started a non-profit to help better include people with down syndrome and other developmental disabilities in the community and workplace.

“The Specials” – An internet docu-soap which follows Lucy, Lewis, Sam, Megan & Hilly. Five housemates with learning disabilities (most of them have Down syndrome) who live the classic student lifestyle in Brighton, United Kingdom.

Delaney Ott-Dahl Foundation – We started this channel to show parents with a prenatal diagnosis of Down syndrome that they can KEEP their baby. Termination is not the only option. We share Delaney’s life so these parents can see the every day, REAL life we have – What it really means to have a child with Down syndrome. With a little extra love and support Delaney is able to achieve everything any other child can. Delaney is ahead of or on track developmentally with babies without her disability.

Has your baby been diagnosed prenatally with Down syndrome?

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It’s scary, all the unknowns and worst case scenarios may have been revealed to you. You may have heard your doctor say “This is where parents usually terminate and start over” and unfortunately without further education, your doctor is right. 70-90% of these pregnancies are terminated often with the devastating after affects of guilt. Your doctor may even volunteer to perform the procedure him/herself and might have sent you to a genetic counselor. Unfortunately all the genetic explanations in the world cannot answer the real questions.

What is it like to raise a child with Down syndrome? Will this ruin my life?

We, at The Delaney Ott-Dahl Foundation hope that regardless of what you choose, that you make an informed, fair and educated decision. That you know not only the cons, but also the pro’s this child may bring into your life, the lives of your family members and for the life of the child. We hope that you first take time before making decisions under stress and despair. It is okay to grieve the loss of the child that you thought you were going to have, especially before you can think about making a decision of the child that can be.

Want to know what can you do for your baby right now to help your baby reach their full potential? Visit our “What You Can Do Right Now” page.

Want Resources to Down syndrome support groups, read blogs of people who are parenting a child with Down syndrome, see pictures and videos of people who have Down syndrome and what they can achieve? Visit our “Resources” page.

Delaneys Milestone Comparison

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Delaney is a role model of what can be achieved with early intervention because the Ott-Dahl’s started her interventions before she was even born. There are many people following Delaney’s advancements because of this. Want to follow her too? Visit Delaney’s Facebook page which is filled with pictures and videos documenting her achievements as well as the Ott-Dahl’s Blog!

We believe that every child born with Down syndrome can achieve greatness! Below is Delaney’s Milestone Comparisons with links to videos when available.

ACTIVITY AVG Baby with DS AVG baby w/out DS DELANEY Choline/Therapies

Responds to Sounds 1 Months 0 Months 0 Months

Smiles When Talked to 2 Months 1 Months 2 Months

Follows Objects w/Eyes 3 Months 1.5 Months 1.5 Months

Holds Head Steady 5 Months 3 Months 3 Months

Reaches Out and Grasps 6 Months 4 Months 5 Months

Babbes 7 Months 4 Months 3 Months

Rolls Over 8 Months 5 Months 2 Months

Sits Alone 9 Months 7 Months 5 Months

Responds to simple instructions 16 Months 10 Months 8 Months

Crawls 12 Months 8 Months 10 Months

Pulls to Stand ? Months 9 Months 10 Months

Stands Alone 18 Months 11 Months

Drinks From a Straw 20 Months 12 Months 10 Months

Walks 23 Months 12 Months 15 Months

First Words Spoken with Meaning 18 Months 14 Months 10 Months

Two Word Phrases 30 Months 20 Months 15 Months