Common Medical Issues...Day 5.

My intention of this post is in NO way to try to scare anyone considering either adoption of a child with Ds or especially in NO way to make someone consider terminating a pregnancy due to suspected Ds of their unborn child. There may be a lot of scary medical issues that can occur in those with Ds BUT all these issues can happen to ANY newborn baby, toddler, young adult, and grown adult...Down syndrome or not.

My ONLY intention is to spread some awareness and hopefully teach someone something.

Babies born with Ds can be born just as healthy as many other children but they can also be born with medical issues. Some of them can be serious but thankfully due to advanced medical improvements they have a much greater chance at growing up healthy and active. The estimated life expectancy back in the 1930's for those with Ds was only 9 years old. There were many who died much younger due to major heart defects that had no cure at the time. Today many are living past the age of 50.

HEART DEFECTS... About 40-45% of those born with Ds have heart defects. There are several type of defects with the most common being an Atrioventricular Canal Defect also known as AV canal. It is a large hole in the center of the heart that allows a mixture of red oxygenated blood and low oxygen blood and then return to the lungs. This makes the heart pump extra blood to the lungs which makes the heart work harder and become enlarged. The body also receives less oxygen when all this happens. Babies usually grow very slow with this defect and high blood pressure can occur which would result in damage to lungs and blood vessels. Surgical repair is needed to help blood circulation go back to normal.

Another common heart defect is called Ventricular Septal Defect (VSD). These can be different size holes between the ventricles in which the same blood mixture happens like that of AV canals. Sometimes these close on their own and do not require surgery.

There are other less common defects such as holes between the two upper chambers (Atrial Septal Defect...ASD), problems with the heart valves, and defects in the major arteries attached to the heart.

Many times heart surgery is needed for these defects. Sometimes it is so severe that emergency surgery is needed right after birth. Other times, depending on defect, surgery may not be needed for a year or two if the hole has not closed on its own. Most children who have heart defects repaired successfully will go on to lead healthy lives.

Gastrointestinal Problems... Those born with Ds have a 10-12% chance of having some type of congenital malformation of the GI system. The most common anomaly is a narrowing or blockage of the small intestine called Duodenal Atresia. Other common GI anomalies include: 1) Imperforate Anus (no anal opening); 2) Pyloric Stenosis (blockage of the outlet of the stomach; 3)Tracheo-esophageal Fistula (abnormal opening between trachea (windpipe) adn the esophagus (food pipe); and 4) Hirschsprung's Disease (absence of nerves in the large intestine/colon. Some of these require immediate surgery to repair. GI problems usually present themselves right after birth with a variety of symptoms such as poor feeding, swollen belly, vomiting, no stooling.

Respiratory Problems... Respiratory infections are more often seen in those with the heart defects. Low muscle tone smaller canals and airways are also reasons for more issues. Sleep apnea is more common due to smaller airways and larger adenoids, tonsils, tongue or a combination of these.

Vision Problems... About 70% of those with Ds have some type of eye problems. Early detection if crucial for best chances at repair and correcting the problems. Some common problems include Strabismus (crossed eyes) which affects about 57% of those with Ds. This is an imbalance in eye muscles. Nearsightedness and farsightedness occur in 20-22% of those with Ds. Astigmatism occurs in about 22%of those with Ds. Cataracts and blocked tear ducts can also be a problem for some.

Hearing Problems... About 40-60% of those with Ds have hearing loss.

Thyroid Problems... Studies have shown that up to 54% of those with Ds have hypothyroidism. This can be serious if not detected and treated. They need to be screened yearly for this problem.

Orthopedic Problems... Increased looseness of ligaments between their bones and low muscle tone make those with Ds more prone to orthopedic problems. The most common problems are Metatarsus Varus (toeing in of the foot) and Pes Planus (flat feet). They can cause pain and difficulty with walking. Instability of the kneecap can also be an issue.

The most serious complication resulting from low muscle tone and joint laxity is the instability of the two upper bones of the back. This in known as Atlantoaxial Instability (AAI) and it occurs in about 10% of those with Ds. The lax joints allow for excessive movement between the two upper vertebrae, especially when the neck is extended or bent. They run a serious risk of spinal cord injury.

In about 1-2% of children with AAI the upper vertebrae slips and compresses and damages the spinal cord. Symptoms can include difficulty walking, increased clumsiness, neck pain, head tilt, fatigue with walking. Most children with AAI have no symptoms. They need to avoid contact sports, somersaults, trampoline exercises and other activities that cause excess stress to the neck.

Dental Problems... Those with Ds often times have dental problems such as missing teeth, delayed tooth eruption adn are prone to periodontal disease. This can lead to tooth loss.

Leukemia... This is a type of cancer of the white blood cells. About 1% of those with Ds develop Leukemia, which is 15-20 times higher than the general population.

This seems like a long list of problems that can occur but many times these do not affect their quality of life. Joey was born with a small VSD that did not require surgery as it closed on its own. It never affected him in any way. Isaiah had heart surgery due to two minor holes that never did close but he always remained healthy and his surgery was not that major. They both have the weak ankles and flat feet. Me and all my other kids also have flat feet also. Joey was born with Imperforate Anus and while at the time of learning that it seemed SO scary but today it is no big deal. He's had a few surgeries over the years to correct the defect to give him a better life. So far so good on the thyroid issues, they both recently tested negative! Joey's hearing and eyesight are fine at this point. Isaiah has an upcoming appointment with an eye specialist as he does have some issues. He will also need a hearing test to see where he stands there. Joey has been my healthiest child respitatory-wise with hardly any colds and only 1 or 2 ear infections. It will be interesting to see how Isaiah does. I don't have record of stuff like that on him. Joey passed his AAI neck xrays when he was 2 years old. I recently had them redone and he did not pass this time...in Bismarck anyway. Xrays needed to be sent to Minneapolis for a 2nd opinion. Please pray for good results. Isaiah passed his in Bismarck but I asked for a 2nd opinion on his also. Hoping to hear GREAT results soon.

I'm sure everyone knows someone who has one or more of these medical issues and they do NOT have Down syndrome. They can happen to anyone.

Characteristics and Features....Day 4.

Those with Down syndrome have low muscle tone, called hypotonia. Their muscles through out their whole bodies are usually affected. This is why they are so flexible or floppy and can bend in all directions. This affects their movement, strength, and development but does not affect their ability to grow and learn. It takes them longer to roll over, crawl, walk, jump, etc. It can also affect feeding as there are many muscles in the mouth too. There is no cure for hypotonia. Some are born with better tone than others but over time it can improve especially with physical therapy.

Facial and other features. Some with Ds have many of the features while others may only have a few. If someone has many of them it doesn't mean that they have "more Ds" nor does it mean someone has "less Ds" if they only have one or two of the features. The features do not affect their cognitive ability.

Nose...The nasal bridge might be flatter than usual. Noses are often smaller and nasal passages may be smaller also which can cause more nasal congestion.

Eyes...The eyes appear to slant upward. Those in the "Ds world" call these "almond eyes" (one of my favorite features). These slanted "oriental" looking eyes is why Down syndrome was formerly called "mongolism" after people from Mongolia. The eyes may also have epicanthal folds...small folds of skin at the inner corners. The outer part of the iris of the eyes have light spots called Brushfield spots. They are more commonly seen in blue eyed people. Vision problems tend to be an issue in those with Ds.

Mouth...Their mouths may be smaller and the roof more shallow. That along with the low tone makes the tongue appear larger and may protrude.

Teeth...Teething may start later and teeth may come in in an unusual order...eye teeth may come before front teeth, etc. Teeth may be small and in unusual shapes. They tend to have dental issues as they get older.

Ears...Ears may be small and the tops may fold over. In many the ears are set somewhat lower on the head. Ear passages may also be smaller with can cause lots of trouble with infections and hear loss can be an issue.

Head shape...Their heads are sometimes smaller than normal but that does not affect learning. It usually is not even noticeable. The back of the head may be flatter and the neck may appear to be shorter. The soft spots can take much longer to fully close.

Stature...While babies with Ds are usually average size at birth (weight and height) they often do not grow as fast as other children. There are actually special growth charts for those with Ds. Average height for adult males is 5'2" and for females 4'6". Obesity can be a problem for many.

Hands/Feet...Their hands may be smaller with shorter fingers. Many have a simian crease on the palms of their hands (one crease across it) and the pinkie finger may curve inward somewhat. Feet usually appear to be normal but most have a gap between the big toe and second toe and there is then usually a deep crease on the bottom of foot by this gap. Webbing of some fingers and toes can also happen.

Skin...Their skin if often mottled (the look of lack of oxygen and very cold).

Hair...Those with Ds typically have thin, soft and often sparse hair.

Because those with Ds share the same extra 21st chromosome that is why they tend to resemble each other as they may have many of the same features listed above. But they also have 22 sets of completely normal chromosomes which makes them resemble their parents and siblings and other family members and also may have their very own look.

Day 3...Types of Down syndrome.

There are 3 types of Down syndrome. I'm just going to give a simple explaination as to what they are and how they occur because if I had to use all the scientific terms I would have to do some research for the correct words for cell division such as meiosis and mitosis.

The most common type is called Nondisjuntion in which about 95% of those with Ds have. This occurs because of an incorrect cell division in either the egg or the sperm right when conception occurs or even before the two even unite. One will have 24 chromosomes instead of the usual 23. So when the egg and sperm unite and one has 23 chromosomes and the other has 24 there is an extra chromosome there and if it happens to be an extra 21st chromosome then Down syndrome will occur. The cells will continue to do their cell division thing over and over again and each and every time this happens that extra 21st chromosome is copied and transmitted to each new cell. Nondisjuction is where EVERY single cell in the body has the extra copy of that chromosome.

3-4% of those with Ds have Translocation Trisomy 21. This happens when the extra 21st chromosome is attached to another chromosome, usually number 14 or another 21st. About 1/4 of Translocations happen during fertilization. The other 3/4 are inherited from a parent. This is the only type of Down syndrome that can result from a condition in a parent's genes.

Lastly, about 1% of those with Ds have Mosaicism. This happens when an incorrect cell division occurs in one of the earliest (but not the first) cell divisions AFTER fertilization. Since it was not the first cell division and there were already some normal divisions that contain the normal amount of chromosomes then not all cells will contain an extra copy of the 21st chromosome. So not EVERY cell in their bodies have the extra copy like the other two types.

The only way to determine what type someone has is to do a Karyotype, which are pictures made from blood samples. The blood samples are cultured, allowed to grow in a petri dish. Then the chromosomes are isolated by a microscope and then grouped into pairs and numbered according to size. There is a picture of one on my Day 1 Challenge.

Joey has the Nondisjunction type...every cell in his body has an extra 21st chromosome. There was some debate between some people as to whether Joey had Ds or not so we had a Karyotype done. I'm assuming Isaiah has the same type also.

Blogging Challenege...Day 2.

HISTORY OF DOWN SYNDROME. I do not take the credit of this information. I copied/pasted from a website. I thought it was very interesting and even learned more myself. I didn't want to leave anything out.

The Ancient Early History of Down Syndrome
The earliest historical evidence of Down's Syndrome might be found in statues made by the Olmec people. The Olmecs were a tribe who lived in Central America between 1500 BC and 300 AD.

Archeaologists have found a large number of figurines that closely resemble a child with Down's Syndrome, featuring round, puffy faces, slanted eyes, epicanthic folds on the eyes, a short nose with a broad flat bridge, and obesity. We know these figurines must have come from somewhere in real life, as it is miserably difficult to produce quality art representing humans without a visual reference.

The Developing Classification of Down's Syndrome
The first clinical description of Down's Syndrome in history, was written and published by John Langdon Haydon Down (1828-1896) in 1866. Down was the superintendent of the Earlswood Asylum for Idiots in Surrey, England for many years.

This institution cared for children with mental retardation, which gave Dr. Down plenty of time to study people with various disorders. He made the first distinction between children who had been labeled "cretins" and children he labeled "mongoloids". These two designations were later found to refer to congential hypothyroidism and Down's Syndrome, respectively.

He labeled the children with Down's Syndrome "mongoloid" because of the highly prejudiced and mistaken beliefs about ethnicity that was historically prevalent at that time. He adopted his classification system from a dissertation by an early anthropologist named Blumenbach who described the divisions of the human race as Caucasians, Malay (Native Americans), Ethiopians (Africans), and Mongolians.

Though Down's clinical description of the syndrome was accurate, his belief that people with Down's Syndrome suffered from arrested ethnic development was clearly mistaken. This belief was mostly based on the tendency for people with Down's Syndrome to have an epicanthic fold of the eyes.

The term "Down's Syndrome" seems to have originated in Russia, where Mongolian people actually made up a portion of the population (and didn't take too kindly to the classification).

Despite his mistaken beliefs about ethnicity, Down was well known for his progressive thinking regarding learning disabilities and his efforts to improve the quality of life for his patients with training programs and research into the abilities of people with Down's Syndrome.

Progress from Discovery of Down Syndrome to Now: The recent history of Down's Syndrome
Keep in mind that the specific cause of Down's Syndrome was historically impossible to prove until doctors got the capability of doing direct genetic research. At first, many researchers thought that Down's Syndrome was due to a kind of thyroid disease or a persistent infection such as tuberculosis or syphilis.

In 1896 Telford Smith noted the resemblances between Down's Syndrome and congenital hypothyroidism and theorized that they were two facets of the same problem. He also reported an improvement in the physical and mental condition of people with Down's Syndrome when given thyroid treatment.

Today we know that Down's Syndrome is caused by genetics while congenital hypothyroidism is often a product of iodine deficiency, but the ability to find these causes have only been available since the middle of the twentieth century. The most probable reason for the improvements that Dr. Smith noticed was that his patients had both Down's Syndrome and hypothyroidism.

We know today that people with Down's Syndrome often have thyroid problems of one kind or another, but they don't all have hypothyroidism. New laboratory techniques allow us to accurately identify and effectively treat the section of the population with Down's Syndrome and hypothyroidism together. However, this belief that all people with Down's Syndrome ought to be given thyroid treatments persisted until 1969.
Questions about the relationship between Down's Syndrome and thyroid problems persist in research even today. Modern researchers are questioning the relationship of thyroid problems in adults with Down's Syndrome to the occurrence of both Alzheimer's disease and zinc deficiency.

The next major point about people with Down's Syndrome came from Dr. Brushfield in 1924 with his identification and classification of "Brushfield spots", the white or grey spots that often appear on the irises of people with Down's Syndrome.

Dr. Waardenburg and Adrian Bleyer - 1930's
The idea that genetics might contribute to Down's Syndrome was suspected as early as 1932 when it was suggested by a Dutch opthalmologist named Dr. Waardenburg. In 1934 Adrian Bleyer, an American, suggested the possibility that Down's Syndrome was due to the triplication, called a trisomy, of a chromosome. Unfortunately, the equipment to test these theories did not yet exist although time has proven these two men right.

Patricia Jacobs and Jerome Lejeune - 1950's
Patricia Jacobs in England and Jerome Lejeune in France reported an extra 21st chromosome in the DNA of people with Down's Syndrome almost simultaneously in 1959, even though they'd been working totally independently. The time, equipment and funding for this vital research was finally all available simultaneously.

Dr. Polani and Dr. Clarke - 1960's
In quick succession, the research team under Dr. Polani discovered that some instances of Down's Syndrome were due to translocation in 1960 and the team under Dr. Clarke reported the first identified cases of mosaic Down's Syndrome in 1961.

The rise of Institutionalization for those with Down Syndrome - still in the 1960's
While the new research and understanding of the causes of Down's Syndrome were wonderful, some of the side effects were not. The ability to genetically test newborns for Down's Syndrome led to an era where almost all babies were institutionalized as soon as possible before their parents bonded to them. Institutionalization was considered the best option for these children and their families at the time, and it would take more research yet to prove that basic cultural assumption wrong.

Dr. Stedman and Dr. Eichorn - still in the 1960's - the argument against the Institutionalization of those with Down Syndrome
In 1964 a pair of scientists named Dr. Stedman and Dr. Eichorn studied and described the negative impact that institutionalization had on children with Down's Syndrome. During their studies they found that the lack of a significant, continuing caregiver and the general lack of stimulation provided by the institutional environment was lowering cognitive ability even further than Down's Syndrome did by itself.

This breakthrough convinced doctors that hospitalized and institutionalized children have emotional needs as much as any other child, that they responded better to care when those emotional needs are met. It also led the medical community to understand that a multidisciplinary approach was necessary for children with all kinds of disabilites.

Eventually a new specialty of medicine developed just to handle these care issues called developmental pediatrics. This new specialty was created to train pediatricians to handle the specialized needs of children who are developmentally challenged.

Mongoloid, Down Syndrome or Down's Syndrome - still in the 1960's
In related news, the term "mongoloid" finally came under fire from Asian genetic researchers and the parents of children with Down's Syndrome in the 1960's.

Once the Mongolian delegate to the WHO asked that the term no longer be used, it was dropped in favor of "Down's Syndrome" on an international basis.

Later on the medical community in the United States voted to drop the possessive in the name and just call it "Down Syndrome" because Dr. Down neither owned or suffered from the syndrome.

The PARC Trial - every child had a right to a free and appropriate public education program, regardless of mental ability - 1970's
The 1970's were a time of great progress for people with Down's Syndrome. In the United States, 1972 was a landmark year when the PARC case came to trial. The result was a declaration that every child had a right to a free and appropriate public education program, regardless of mental ability. Similar rulings were taking place all over the world.

In 1973 parents and professional caregivers of people with Down's Syndrome came together to form the Down's Syndrome Congress devoted to increasing the level of care and the possibilities for people with Down's Syndrome.

The end of the automatic push for the Institutionalization of those with Down Syndrome - Still in the 1970's
As the belief that institutionalization was best vaporized and children with Down's Syndrome started living at home in greater numbers, the medical profession as a whole realized they were going to have to provide to this patient group on a wide basis. Clinicians started to pay more attention to the basic health needs of these children, expanding into areas such as cardiac, gastrointestinal and auditory care among others.

Because of this response from the wider medical base, advances came quickly in the treatment of congenital heart disease, surgical repair of the gastrointestinal tract, and the treatment regimens necessary to deal with immune problems and the resultant infectious disease. These basic medical / treatment advances have served to dramatically increase the lifespan of people with Down's Syndrome.

Down's Syndrome Preventative Medical Checklist - 1980's
Medical care provided in a multitude of communities eventually led to the development of the "Down's Syndrome Preventative Medical Checklist" in 1981.

This special protocol checklist presents specific medical management suggestions for doctors treating people with Down's Syndrome. It's still in use today and is updated every two years with the latest findings.

The History of Down Syndrome in Conclusion
In the last century of research for people with Down's Syndrome, we've managed to go from complete mystery to awareness of the basic cause and effects of the disorder.

Historically, we've gone from seeing people with Down's Syndrome as little better than animals to full, real people whom we love and who love us back.

Instead of putting them in institutions for life, we've learned that they can be our co-workers, partners and friends.

We've learned so much in the last century, and we look forward to a future that grows ever brighter.

Wow! If you made it this far...thank you. Fortunately, for the children who are lucky enough to be born here in the USA, they are either taken home by their birth parents or given up for adoption. Sadly, the abortion rate of prenatally diagnosed Down syndrome is about 90%. That is HUGE and it is even sadder that there is a waiting list here in the USA for adoption of kiddos with Down syndrome. If only those mothers/parents would choose LIFE and allow another family to raise and love that gift. Unfortunately, for the children born with Ds in other countries, the VAST majority are left at the hospital and then put into an orphanage and then later transferred to a mental institution, if not adopted, where most will die within one year of entering it. Another "fortunately" over in Eastern Europe, particularly parts of Ukraine there have been some great advances in that they've started support groups and teaching centers to educate parents on how raising a child with Down syndrome is very do-able. Hopefully there will be less children entering orphanages there one day soon.

Ok...I better stop here as I could go on and on.

Down Syndrome Awareness Month.

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October is Down Syndrome Awareness Month and I'm taking the challenge of blogging everyday for 31 days..."31 for 21". Well, realistically I will try for 21 days out of the 31 that way I won't set myself up for failure :) I'm not promising that all these days will be very interesting...might just be something as simple as a picture but it will be about something to do with Down syndrome and the beauty that the extra 21st chromosome brings.

Soooo...since it is "awareness of Down syndrome" I will start with some facts about it for those who may have no idea. I imagine there aren't too many things in our lives where we just decide to go learn about for no particular reason. Until I received the gift of Joey back on July 22, 2005 I had no idea about the many things I have learned since then.

So here goes..."Down syndrome 101"...short and sweet.

Let's talk chromosomes...those little "wormy" like DNA things. Here is a picture...

Usually there are 46 chromosomes in every cell of our bodies. There are 23 pairs...one from each parent. There are scientific terms to what happens during cell division and "they" call it an "error...something gone wrong" during the cell division that results in an extra 21st chromosome. Those who've been given the gift of someone with this extra chromosome don't refer to this as an "error...or something gone wrong" but something totally planned or allowed by God and something so RIGHT.
Back to the picture (which by the way is called a Karyotype of Chromosomes). See where the arrow is?...pointing to the 21st chromosome?...there is where that extra gift is located. This extra chromosome is what makes those with Down syndrome look and act so much alike. And I don't mean that in a bad way because many believe those with Down syndrome ALL do this and ALL do that and ALL have this, etc. They do have many of the same characteristics and personality traits but at the same time, just like everyone else in this world, they are their own unique being and have their own individual personalities.

The medical term for Down syndrome is "Trisomy 21"..."tri" meaning 3 and "somy" for chromosomes...3 chromosomes. For short, we call it "T/21".

Since I said this would be short and since I have many more days to go I better stop here.

Isaiah's 1st Photo Shoot

He is an All American Boy!



And brother Joey's 5 year pictures...



And our "brother's forever" pictures...




***these pictures are the property of Sears and Steph Becker...PLEASE DO NOT COPY!

Exciting Weekend...Buddy Walk, Baptism, 1 month anniversary of being home!

September 18, 2010. The past few years our Buddy Walk team name has been "Joey's Army" but this year we needed a new name. I wanted to hopefully still get use out of our camo t-shirts so a friend came up with the name of "Becker Boys Battalion". Joey and Isaiah had lots of buddies join them for their day.






Sunday, Sept. 19, 2010. Isaiah's Baptism.

Becker Brothers. This was the first group brother picture since Isaiah being home. For a second I thought there was a neighbor kid here when I saw how full the couch was. It's ALL good though. Noah and Austin are usually fighting over Isaiah and one made the comment that this is why we should have adopted two. I said one can have Joey but Joey isn't too in to cuddling these days...only on his time.


Godparents are Jim & Jackie Bitz.

Fr. Ross...our parish priest at St. Philip Neri Catholic Church.

Isaiah's own personalized blanket as a gift from our parish.
I would guess Isaiah is very pleased and happy with his special day. He did great. We bought his baptismal outfit in Nikolaev, Ukraine...his "old" hometown.

ONE MONTH UPDATE. Isaiah's personality has really changed from how I remember him in the orphanage. We hardly ever heard him laugh and now he laughs so easily. I've been working on him keeping his fingers/thumbs out of his mouth and he is on day 4 of finally sucking on a pacifer. He is even trying to put it in his mouth by himself...he is getting close. At night though if I don't have his hands covered he uses his thumbs. Since he no longer spends most of the day with his hands in his mouth he has finally taken interest in playing with toys! This is a huge treat to me as I thought he would have to learn from the beginning like a baby. He loves the music toys the best. He also has decided that he needs to be where the action is...if someone is playing a game on the floor he will be there shortly (or fast, depending how which form of crawl he chooses). He knows how the regular crawl works but doesn't always use it. He's been watching Barney and Signing Times with Joey and he seems to like it. I have a feeling Joey would tell him "too bad" if he didn't like it. The last couple days he's been following Joey around in the living room exploring as he goes. It is so awesome to watch this little boy who once was confined to his toyless wooden pens.

Some days (meals) when I think he is getting better with screaming after his food is gone then it gets worse again. He will bang his head on the back of highchair but as soon as I wash him up and take him out he is so happy again. I don't give in to giving him more food as he had plenty for the little tike he is.

Bathtime is a favorite. There are those times where the bath just has to be short and boy does he get angry! Thankfully he gets over it fast. When I take him in the bathroom and start running the water he gets so excited and crawls over to the tub and tries his darndest to pull to a stand by the tub...he always succeeds. He also tries his darndest to get in but thankfully he is too short yet.

This week Isaiah will be having his first well baby checkup and lots of bloodwork and some x-rays. Please say some prayers for all to go well. His brother Joey will also have some of the routine testing done too. He could use some prayers also.

***All pictures are the property of Steph Becker...PLEASE DO NOT COPY!