Wednesday, March 9, 2011

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?

1 comment:

Gwen S said...

It sounds like there was a wonderful team in NC. I'm sorry you don't have any earthly diagnosis right now, but I'm still praising the beauty and wonder of your precious son. Hope we can get our little guys together soon. gwensmith93 at gmail.com