Movin on up....

Ethan has moved on from the Babies Class at Romp n' Roll but luckily we have our same teacher and we just LOVE Ms. Emily! I'll be honest, I was very nervous about the transition.  We were comfortable in the babies class, it was small and quaint but Ethan needed more.  He had outgrown the class and so last week we tried out the next class up.  This class is designed for toddlers age 10 months to 24 months.  Most of the kids are walking in the class but not all so Ethan fit in just fine!  He loves all the musical instruments.  The drums and symbols are his favorite.  I can't say enough great things about what Romp n' Roll has done for Ethan.  I love how all of the staff love and treat Ethan just like one of the kids...

This is how we roll....

We spent most of the afternoon doing this....

Gracie conquered her fear and now can ride a bike without training wheels!

 I love how determined he looks here!

 Big brother showing little brother how its done!

 Watch out Anna Claire, Ethan is coming after ya!

Happy Saturday, go out and get your roll on :)

Still looking for answers...

Today was our appointment with two genetic doctors at UNC Chapel Hill Children's Hospital.  What a great facility.  It makes such a difference actually being at a facility where all they do is specialize in children.  I didn't have to get "Mama  Bear" once today!  Our appointment was at 9 and they had us back by 9:05 and spent 3 hours with us.

Ethan and Daddy reading some books while we waited.

Before Ethan came along, sure I noticed special needs kids, you know the one in a wheelchair that you see and you kinda look over and smile uncomfortably at the Mom 'cause you don't really know what to say.  I was that typical Mom going on with my life never thinking that one day that might be me.  You see some stuff in waiting rooms of children's hospitals that would scare the hell out of the most brave man.  Today, a young teenage boy was in the waiting room laying on a stretcher with a machine breathing for him.  He was paralyzed. Waiting his turn to be seen.  His Mother looked like an old pro at this game and it made me sad.  Made me sad for the other Mother sitting across from me with a newborn baby hooked up to an apnea monitor ...beep beep beep, the sounds were unfortunately familiar to me.  Ethan stayed on one for 6 months.  That poor Mother is just beginning down this very long and uncertain road. Don't know exactly all the details of these kids issues, but one thing is certain, we all share a bond.  The bond of the unknown.

The doctors we saw today were so kind and patient.  I was kind surprised because most genetic doctors are pretty abrupt and to the point. If you are in the NC area and need a genetic doctor email me and I will give you the contact info.

To wrap up our appointment I can tell you what we do know now:

• Ethan has had every test that is currently available in order to make a diagnosis for his "symptoms" all have come back negative for any known disease or syndrome

• The genome sequencing testing that we are trying to get into at the NIH may gave us an answer but it may not, just because they are able to sequence all of the DNA they may still not have an answer

• We are going to celebrate the small accomplishments and his progression no matter how long it takes

• Medical technology advances every day, because we don't have an answer today doesn't mean we won't next month, next year or in 10 years

• We will never give up

The only other 2 syndromes that he has not been tested for and fits "most" of the description of the symptoms can be tested with a blood test.  Our insurance doesn't cover it.  Another $2,000 for what the doctor said is a 50/50 chance.

For those that are interested the 2 syndromes are :

Simpson-Golabi-Behmel Syndrome - People with Simpson-Golabi-Behmel syndrome have distinctive facial features including widely spaced eyes (ocular hypertelorism), an unusually large mouth (macrostomia), a large tongue (macroglossia) that may have a deep groove or furrow down the middle, a broad nose with an upturned tip, and abnormalities affecting the roof of the mouth (the palate). The facial features are often described as "coarse" in older children and adults with this condition.

Other features of Simpson-Golabi-Behmel syndrome involve the chest and abdomen. Affected infants may be born with one or more extra nipples, an abnormal opening in the muscle covering the abdomen (diastasis recti), a soft out-pouching around the belly-button (an umbilical hernia), or a hole in the diaphragm (a diaphragmatic hernia) that allows the stomach and intestines to move into the chest and crowd the developing heart and lungs.

Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of the gastrointestinal system, urinary system, and genitalia. Some people with this condition have mild to severe intellectual disability, while others have normal intelligence.

Aarskog Syndrome - Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.

  

Causes, incidence, and risk factors

Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGDY1).

Symptoms -  Belly button that sticks out, Bulge in the groin or scrotum (inguinal hernia), Delayed sexual maturation, Delayed teeth,Downward palpebral slant to eyes,Hairline with a "widow's peak",Mildly sunken chest (pectus excavatum),Mild to moderate mental problems,Mild to moderate short stature (which may not be obvious until the child is 1 - 3 years old),Poorly developed midportion of the face,Rounded face,"Shawl" scrotum, testicles that have not come down (undescended),Short fingers and toes with mild webbing,Single crease in palm of hand,Small, broad hands and feet with short fingers and curved-in fifth finger,Small nose with nostrils tipped forward,Top portion of the ear folded over slightly,Wide groove above the upper lip, crease below the lower lip,Wide-set eyes with droopy eyelids

The doctor asked us the following question: "If I can give you a definite answer of a diagnosis today with no cure, would it make a difference in the way you love and treat Ethan"?  The answer to that is NO and NO we wouldn't ever want to change him. We just want him to have the best and most comfortable life we can give him.

So today we will celebrate this sweeet boy with some Oreos:

PS - We getting ready to leave for Ash Wednesday service and I am giving up chocolate for lent, ya'll pray for me, k?

  



Update..

Dare I say that everyone is well....don't want to jinx us!  The stomach flu has been in our house 3 times since October and Ethan has caught it every single time.  Luckily he is doing well with not getting a colds this winter, probably due to his monthly RSV shots and daily neb treatments.  I don't even want to think about next year when he won't get the RSV shot....He was hospitalized the 1st two years of his life with RSV in late Spring even though he had the RSV shot so I'm hoping that doesn't repeat itself this year.  We are planning a trip to visit my Grandparents during spring break and am just hoping that we can keep him well!

We are going to meet with a doctor in Chapel Hill on Wednesday.  A genetic doctor at UVA referred us to his doc...she specializes in Storage Diseases and metabolic conditions.

Ethan has done really well this week.  His signing is increasing, he now signs ball, more, car, open, eat and more.  He also says go, mama (not usually in context but I still love to hear it), no, apple (yes he says apple and in context, seems like a hard word to me) and inky (which means binky).  He is also getting stronger and using his walker more and more.  He is also getting into lots of trouble (which is pretty "typical" and OK with me)  This is what happened when I went to switch the laundry out ...2 minutes that is all it took...

This boy loves him some Oreos...

Doing my part....

Remember last year when I blogged about Spread the Word to End the Word .  Well a year later and its that day again! 

The following information was taken from here:

The R-word, “retard,” is slang for the term mental retardation. Mental retardation was what doctors, psychologists, and other professionals used to describe people with significant intellectual impairment. Today the r-word has become a common word used by society as an insult for someone or something stupid. For example, you might hear someone say, “That is so retarded” or “Don’t be such a retard.” When used in this way, the r-word can apply to anyone or anything, and is not specific to someone with a disability. But, even when the r-word is not said to harm someone with a disability, it is hurtful.



Because of this, Special Olympics and the greater disability community prefers to focus on people and their gifts and accomplishments, and to dispel negative attitudes and stereotypes. As language has evolved, Special Olympics has updated its official terminology to use standard, people-first language that is more acceptable to our athletes.

The word "Retarded" took on a whole new meaning on December 5, 2008, the day Sweet Ethan was born.  In Ethan's doctor's own words this is how they explain our sweet boy - dysmorphic male, coarse facies, hypertelorism...blah blah, I think you get the picture.  We do know that Ethan has developmental delays and Neurologists and a Genetic Doctor has told us that Ethan is considered "mentally impaired".  Other doctors have told us that we really won't know for sure  until he is 6. 

The reality is he is not "typical"  he doesn't talk or walk and isn't interested in doing with most 2 year old are doing right now. YET.  He will, we know he will, if he is 5 years old and is just taking his 1st steps alone that will be just fine with us.  So because I have a child with lots of medical issues and delays the word "Retarded" is not a word that is used in our vocabulary. 

So many use the word in passing but when they say it, it is hurtful because it's typically used in describing someone who is stupid, dumb or slow.  Well, my Sweet Ethan is none of those things as well as many other special children that I know.  My son is strong, a fighter and determined.  So if you call someone like my son "Retarded" just know what you might get yourself into...

Most of my family and friends are pretty careful about this word because they understand our family and know that it hurts us but occasionally someone slips.  It's OK if that happens, just apologize and move on.  Don't ignore it as if it didn't happen though, because it's real and it did.  The other kids are very aware of this hurtful word and know that if they ever used this word to be  hurtful they would get a squirt of soap in their mouth disciplined in an appropriate way.

Today, I have asked my facebook friends to update their profile status in honor of Sweet Ethan and others with Intellectual Disabilities with this picture.  Will you?

Very special people are counting on us to make a difference.

Friends like Sara

 friends like Jessi

 and Sweet boys like Ethan