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Facts & Questions
What is Down syndrome?
Down syndrome is a  genetic disorder in which a person has en extra copy of chromosome 21. Typically a baby is born with 46 chromosomes (two of each chromosome), but a baby with Down syndrome is born with 47 from the extra, third, 21st chromosome. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21
Down syndrome is the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 out of every 691 babies. There are approximately 400,000 people living with Down syndrome in the United States.
Did I do something to cause Down syndrome?  
Absolutely not! Down syndrome is randomly occurring. There is nothing that a person does to make Down syndrome occur. Down syndrome usually occurs prior to or at conception by an error in cell division called "nondisjunction." 
Why is it called Down syndrome?
n 1886 Dr. John Langdon Down was the first person to describe the characteristics of Down syndrome and therefore was named after him as Down syndrome. 
Are there different types of Down syndrome?
Yes. There are three types of Down syndrome:  trisomy 21 (nondisjunction) accounts for 95% of cases, translocation 4%, and mosaicism 1%.
What are some physical characteristics of Down syndrome?

- "I have almond shaped eyes, (and epicentral folds)       

- And a little button nose, (flattened bridge of the nose)             
- Single creased hands (single palmar crease)             
- And sandal footed toes!"  (large gap between big and second toe)
- Hypotonia - Low muscle tone - baby may seem floppy

- Brushfield Spots - White spots on the colored part of the eye

- Lower set ears & smaller stature

- Some people with Down syndrome may have all of these characteristics while some may only have a few or one. It is a misconception that all people wth Down syndrome look alike. When in reality they resemble their family members just like anyone else.

Are there health risks associated with Down syndrome?

 - 50% of infants born with Down syndrome have a heart defect. Some require surgery and some repair on their own.

 - 2-15% of infants with Down syndrome are born with Hirschsprung disease, a bowel disorder that may require surgery.

 - 10% of children with Down syndrome have congenital or acquired thyroid issues.

 - Narrow ear canals which can contribute to frequent ear infections which can lead to hearing loss if untreated.

 - Ear, nose, and throat issues that can lead to frequent infections, sleep apnea or obstruction, and chronic rhinitis and sinusitis.

 - Leukemia and other blood abnormalities, but research has found people who have an extra 21st chromosome reacts better to

   treatment than people who do not have the extra chromosome. 

 - Eye issues such as far and nearsightedness, nystagmus, strabismus (misalignment), amblyopia (lazy eye), & cataracts.


Are there cognitive or developmental delays associated with Down syndrome?

All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is NOT indicative of the many strengths and talents that each individual possesses. Just like all children without Down syndrome, all children with Down syndrome DO grow , DO develop, and DO reach milestones at their own progression rate. We all have gifts and talents and excel in them.

What is the future like for someone  with Down syndrome?

People with Down syndrome attend school, achieve higher education, go to college, participate in decisions that affect them, work, have meaningful relationships, get married, vote, and contribute to society in many wonderful ways.​ There are many people with Down syndrome that own their own businesses, are olympic medalists, are famous actors, actresses, models, musicians, designers, weightlifters, martial artists, reporters, speakers, advocates, and the list goes on!

What is the greatest advice you were ever given for your child that has Down syndrome?
 1.) "Do NOT limit him!"
2.) "Teach him sign language! It is never to early or too late to start!  Most all children can use sign language to commhnicate their need and wants before they can verbally communicate. It cuts down frustration for the parent and the child."
3.)"You treat your child like they are limited and they will.. be.. limited! Treat them like you would anyone else without limitations. They deserve it, and they will show you the person they are and the great things they are capable of!" 
4.) "Start Early Intervention services as soon as possible. Contact your local department of human services to get set up. They offer FREE physical, occupational, speech , and other therapies that your child needs until their third birthday. Do not take no for an answer. If you feel your child needs more services fight for them. If you feel your child isn't making progress have them reevaluated for services." 
5.) "Start speech therapy services right away even if you have to seek private therapy. Do not listen if therapist tell you to wait until they are eating baby foods. They need the speech therapy to help desentize them to textures and strengthen muscles for chewing BEFORE they are ready for solids. There are many techniques available to get them ready. Believe it or not a pacifier is a great tool for strengthening those muscles. A NUK brush and a vibrating brush/teething toy is good for desensitizing." 
6.) "Keep your child's mind stimulated . Offer colorful objects, toys with lights and sounds, iPad videos, educational and musical videos, etc. while trying to appeal your child's individual interests and likes." 

Advice from My Little Sunshine Face's mom:

1.) Congratulations on your precious new baby!  Get to know your child and do NOT let their diagnosis define them. First and foremost they are a new baby not Down syndrome. Let them show you who they are.. bet'cha they are wonderful beyond belief!! 

2.) Reach out to your local Down Syndrome Society or Association! I can not stress this enough! The association reached out to us, and I am so thankful. The families, children, and parents that I have met have all become family to us. They can provide so much information, support, and friends for your little one. The people I have met from our society have been so helpful. When I find myself  facing certain situations they are great in giving me advice that they themselves had already experienced. You will find that certain parents are really good in particular  areas and the society can refer you to them as the expert in that area :) It was such a peace of mind to know that we had a family there that understood, had our best interests in mind, promoted acceptance, awareness, and inclusion, and  willing to advocate for our children. 

3.) Make an appointment at your local Down syndrome clinic! If the clinic is a good distance away, I would still encourage you to visit it anyway. Down syndrome clinics specialize in DS. It was such a peace of mind when we first received the diagnosis because we felt so lost. The clinic knew all the tests and areas that our child needed. They educated us on things we needed to do, things we needed to watch for, and if needed, they put us in contact with resources that we needed or told us how to find them. We were blessed that our DS clinic was inside a Children's Hospital. That way when tests were needed we could be referred right there in side the same location. If you can find a DS clinic inside of a Children's Hospital I would recommend it. Our DS clinic did evaluations at birth, 6 months, 1 year , and every year after that. DS clinics usually work as a team with certain doctors such as audiologists, endocrinologist, cardiologists, ENTs, physical and speech therapist. When we visit the clinic each individual doctor or therapist on the team would do their follow up or evaluations and then make recommendations or order tests. We eventually ended up needing an ophthalmologist, GI, neurologist, orthopedics, and hematologist. All were available right there in Children's Hospital. Copy and paste this link into your browser to find your local Down syndrome clinic.  http://www.globaldownsyndrome.org/research-medical-care/medical-care-providers/

4.) Teach your child sign language. Start as soon as possible. I started at 4 months old. If I had it to do over again I would start from birth. It gives you time to learn the signs and get used to using them. Don't overwhelm yourself. Start with basics of what an infant needs: milk, eat, change, bath, more, all done, sleep, play. Then add more as your baby grows and is surrounded by more needs, wants, milestones, and tasks. Here are a list of great resources that I started with Ashton and still use today that he loves. Copy & Paste links into your browser.

- "Baby Signing Time" & "Signing Time"      https://www.signingtime.com

- "Baby Babble 1, 2, 3 & First Words"           http://www.talkingchild.com     (This series was created by speech language pathologists)

- "Baby Einsteins Simple Signs"                   https://www.amazon.com/Baby-Einstein-My-First-Signs/dp/B000LSAIZI

- "Baby Einstein Wordsworth"                      https://www.amazon.com/Baby-Einstein-Wordsworth-First-Around/dp/B0007Z9QYE

Some of these can be found on youtube to preview and sometimes full length. You can find many of these or similar videos on my youtube channel: Brandi Berkhimer - Playlist: Sign Language & Speech Therapy (My Little Sunshine Face)

5.)  Don't forget to take care of yourself! It is easy to get caught up in doctor appointments, therapy sessions, and if your like me turning every day events into learning experiences and fun therapy. If you don't take care of yourself then you can't be expected to take care of others. You MUST take time for yourself no matter what that means to you.. a walk, a lunch with friends, a outing with your husband, or maybe alone time to read. You will think you can get away without doing it, but it will catch up with you. I ended up with my own health issues while battling a ruptured disc that severely impinged on a nerve. I waited to long to take care of myself, and I was debilitated. I had surgery which made me take time for myself. I would much rather see you take time for yourself now then when your body has had its limit and demands it.

6 & 7.) Make time alone with your spouse a priority. It is easy to get into a routine of being to tired to make time for each other. Alone time will be scarce after the little one starts to get bigger so it will be important to establish a sitter or caregiver that you can count on. I suggest one that can be well trusted and if possibly have experience with Down syndrome  or other different abilities.

8.) Live life! Relax! Laugh! and Love! Some parents, like myself, get so caight up in trying to make sure they are doing every little thing possible they can to help their child... and that a good thing, but they become so stressed and overworked it steals their joy, makes them anxious, depressed, and even makes their bodies sick. You can't do so much or go overboard to the point you risk your own health. There are so many resources out there available for your child. Pick what is a true priority based on your child's individual needs. and then add things from there. I found myself traveling every day every week : in state , out of state, physical, occupational, speech, sensory, vision, feeding therapies, nine speciality doctors out of state, tests, evals, follow ups..  and the list goes on. My sister's advice still rings true in my head , "Brandi, its great what all your doing, but if your running yourself into the ground you have to prioritize what your doing. You have to take care of yourslf or you won't be able to take care of him, Its great your doing every therapy available to him and have dedicated your life to making sure your doing all you can, but Ashton will be all that God craeted him to be, and he will get there at his own timing. Ashton was meant to be a blessing so you need to do what God equipped you to do. He doesn't expect you to go beyond what you were equipped for." 

9.) Hold fast to these truths:

  -  "Children are a gift from the Lord. They are a reward from Him" - Psalms 123: 3-5 

  - "Every good and perfect gift comes from above." - James 1:17

  -  "I can do al things through Christ who gives me strength" - Philippians 4:13


I completely have seen the works of God displayed in My little sunshine Face from the very day he was born, and look at the works He is accomplishing for others through our Little Sunshine! I believe with all my heart we have been gifted a "good and perfect gift from above!" If you are a new parent, Congratulations on your new baby!! In the next few weeks  of taking your baby home.. the best gift of your life is going to unwrap all that is wonderful !