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