follow the Family’s of Parents writing blogs as they go
read the stress these Families come under
in bringing up a child
Born Unable To Swallow
Blogs on Rare Conditions can be found on this page to
Resources on this page should not be used as a substitute for professional medical care or advice, but rather to provide users with information to better understand their health or their Child’s diagnosed disorders
He is one of 3 siblings. He was born with Tofs/Oa vacterl along with many other serious conditions which saw him spend the first 8 months of his life in a London Hospital intensive care unit. He was later at the age of 15months diagnosed with a terminal illness called Duchenne Muscular Dystrophy (DMD). Follow Draven’s progress (the good and the bad) on his Blog page Our Hero Draven.
Please help us in supporting our cause to provide very expensive equipment, most importantly a power 
wheelchair and the advance payment for a wheelchair assessable van which will be able to make Draven’s life a lot more independent and comfortable now and as his condition further deteriorates.
What is DMD? Duchenne muscular dystrophy (DMD) is an X-linked recessive form of muscular dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and premature death. This disorder is caused by a mutation in the gene dystrophin, located on the human X chromosome, which codes for the protein dystrophin. Dystrophin is an important component within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane. While both sexes can carry the mutation, females are rarely affected. Symptoms usually appear in boys between the ages of 2 and 3 and may be visible in early infancy. Even though symptoms do not appear until early infancy, laboratory testing can identify children who carry the active mutation at birth. Progressive proximal muscle weakness of the legs and pelvis associated with loss of muscle mass is observed first. Eventually, this weakness spreads to the arms, neck, and other areas.
Early signs may include pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, and difficulties in standing without help or an inability to walk upstairs. As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue (fibrosis).
By age 10, braces may be required to aid in walking but most patients are wheelchair dependent by age 12. Later symptoms may include abnormal bone development that leads to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occurs, eventually leading to paralysis. Intellectual impairment may or may not be present but if present, does not progressively worsen as the child ages. The average life expectancy for individuals afflicted with DMD is shockingly around 25.
Sarah’s Live Blog living with EA-TEF
Born July 28th 1997
Sarah has already done a write up on the Adult page of her life, the link below
http://www.birth-defect.org/adult-tof-oa-and-ea-tef/#sarah-usa
I was born with multiple birth defects; the most serious was Esophageal Atresia and Tracheoesophageal Fistula (EA/TEF) which means I was born without a complete esophagus. The top part of my esophagus ended in a blind pouch and the bottom connected my stomach, with all of its acids to the bottom of my trachea, just where my airway branched into my one functioning lung. This was a very dangerous combination.
The Backstory
All special families come with the backstory. For some, it is short and other long. One thing we all have in common is that our stories inexorably linked. This is my first blog entry so forgive me if I ramble a bit.
The back story is important because it is our journey that makes us who we are. Every child in our lives shapes that journey and we, as parents and caretakers, evolve to best support those we love. Like it or not, it changes us… Forever.
Part of that sink or swim phase, as I call it, includes making decisions that will affect your child and you for the rest of your lives with little to no accurate info or real guidance. Doctors list off big words and your brain slowly turns to mush trying to translate it into English. This phase in the backstory is often ongoing with each new hurdle we come across. It is also the part we all would very much like to forget sometimes.
It is important to tell these backstories because we need to remember what brought us all to the point in backstory when we became members of the special needs community. They are filled with regrets, guilt, and the never ending what ifs. Our situations are not unique but our backstories are. That is why they matter so much. It changes how people see you and your family when they know the true struggle that has brought you to this point in your life.
The Troupe’s are a homeschooling family of seven living in the Western Michigan area. Kevin and Theresa have been married 24 years and have three girls and two boys. Our youngest is 4, our oldest is 21. The content on this blog is an insight into living with a child or sibling with special needs and the challenges and special joys that are presented to us. Our prayer is that you would find the strength to care for those who are in your life by reading about our journey of raising our unique family.
Lessons from Matthew & Isaac – Our CHARGE Syndrome Journey
This is a Blog going back 7 years I am told by a Father.
CHARGE Syndrome affects approximately 1:10,000 births worldwide, is extremely complex and has varied medical and physical manifestations. It was first described in 1979, named in 1981, and only as recently as 2004 was a gene for CHARGE found. In addition to a host of other conditions, most individuals have communication-related problems, including breathing, swallowing, hearing and balance, and speech.
CHARGE is a recognizable pattern of physical anomalies that us useful for the diagnosis and can be confirmed by a genetic test.
There are four “major” anomalies that are commonly referred to as the four “C”s of CHARGE. These “C’s” are Colobomas of the eyes (an eye defect), Choanal Atresia (sinus), Cranial Nerve issues (swallow, facial palsy, smell, taste, etc.) and Characteristic Ear (can be outer ear, middle or inner or any combination of the three).
In the “minor” tier of anomalies, which are less specific to CHARGE Syndrome, can include the following; heart defects, cleft lip and/or palate, Esophageal atresia, Trancheo-esophageal fistula (TEF), H-shaped TEF, kidney abnormalities, genital abnormalities, growth deficiency, typical CHARGE face, palm crease and typical CHARGE behaviors.
This is a New Blog from a Parent living with a child with this condition, the Lady has become a Friend and I kinda talked her into doing this, because I have seen a few negative posts on you-tube I felt this lady could give her account better
Spina bifida is a birth defect where there is an incomplete closing of the backbone and membranes around the spinal cord. There are three main types: spina bifida occulta, meningocele, and myelomeningocele.
The most common location is the lower back, but in a rare case,s it may be the middle back or neck. Occulta has no or only mild signs. Signs of occulta may include a hairy patch, dimple, dark spot, or swelling on the back at the site of the gap in the spine.
This is a first, a blog from the wife of an Adult guy with EA-TEF in her own words, I have talked her into doing this, this is new for her, so might take her a while to get the hang of it all so bare with her.
Meet them Both
This is the First time they have thought about doing anything like this, but we hope it will highlight the struggle the older people have been born unable to swallow.
Their New Blog
We knew through the pregnancy that Aurora would be born special but we didn’t know everything until she arrived. For months we were preparing for a funeral but we have been blessed to be able to raise an AMAZING little girl!
Aurora was also born with hydrocephalus, this is a condition where the brain cannot accurately manage the cerebral spinal fluid levels. Because of the buildup of cerebral fluid, it results in significant pressure on the brain itself. Aurora had her first brain surgery on February 23rd, a procedure called an ETV. We were hoping this would be the only brain surgery she needed but it was not to be. One month later on March 23rd Aurora had an urgent surgery to place a shunt. So far since then, everything had been good!
Because her most urgent medical situations have now been handled and are stable we are moving onto the other parts of her body that need treatment. Aurora was only born with her left leg, that’s why everything is “One Left Step at a Time” for us. In the search for the best care for Aurora we have landed ourselves in Philadelphia at Shriner’s Hospital for Children. Shriner’s is roughly 3-4 hours from our house, not counting on traffic, that makes it more like a 5-hour journey. We have seen the lower limb clinic so far and will be returning on June 11th for the spinal doctors. Aurora will need a spine surgery as well because of two fused vertebrae.
While creating a colostomy for Aurora was the best thing to do at the moment of birth, it is only a temporary solution. Aurora will need to have an anus created and because of an attachment to her vagina, she’ll also need reconstructive surgery for that. Because of needed a pediatric gynecologist, and possibly a pediatric urologist in addition to the anal-rectal specialist our search has steered us to Nationwide Children’s Hospital in Columbus Ohio. We do not have a date set for our first appointment yet, but we are working with the hospital already. Columbus Ohio is around an 8-hour drive from home, not counting on traffic and needed stops for food and rest. We will need to stay at least overnight one night, possibly two, each time we have an appointment there.
While Aurora’s father, Dewey, works full time at a good job and we can support our self at home, it does not provide the extra money we will need to make such trips. As much as we did not want to reach out to others for assistance we realize that provide this amazing child with the care she needs, it is what we have to do. Aurora is such a little fighter and proves over and over again she wants to be just like everyone else, especially her big sister Ella. As her mother, I want to give Aurora the resources to become the best version of herself she can be, and in doing so I need help as well.
If you can find yourself in a position to donate monetarily I thank you so very much. If you are unable to donate funds I completely understand as everyone is fighting their own battles in life. If you could please share our story.
This is our little Arlo Birch- the inspiration for this passion project. Since Arlo’s eventful entrance into this world, he’s given us a new perspective on life. He was born with TEF/EA and has had several other medical challenges related to eating and breathing. He depends on a gastrostomy feeding tube to eat and receive his nutrition. In his 19 months thus far, he’s taught us to be flexible, comfortable with accepting things the way they are and to be positive all the while. My husband and I have been inspired and have put our creative minds together to start a clothing company + blog with inspirational messages and designs that are g tube accessible. We hope his story and our journey can help other families of “tubies” have access to functional yet fashionable clothing, gain ideas, and make your day just a little easier.
https://www.littlebirchshop.com/
A Parents Facebook Page of her Daughter who has Edwards Syndrome in UK
Trisomy 18, also known as Edwards syndrome, is a condition which is caused by an error in cell division, known as meiotic disjunction. When this happens, instead of the normal pair, an extra chromosome 18 results (a triple) in the developing baby and disrupts the normal pattern of development in significant ways that can be life-threatening, even before birth. Unlike Down syndrome, which also is caused by an extra chromosome, the developmental issues caused by Trisomy 18 are associated with more medical complications that are more potentially life-threatening in the early months and years of life. A Trisomy 18 error occurs in about 1 out of every 2500 pregnancies in the United States and 1 in 6000 live births. Some infants will be able to survive to be discharged from the hospital with home nursing support to assist with care by the parents.
https://m.facebook.com/story.php?story_fbid=915221112016651&id=353207758217992
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