Cole: As many of you know, for years we've been trying to track down what's "wrong" with Cole.  Through his life, he's suffered multiple ear infections, viral infections, croup not to mention his heart deformity, developmental delays, allergies and most recently for the past year, joint pain.  In an effort to make 2009 the year that gives Cole relief, we've been on a mission to understand why Cole's joints hurt and what can be done to alleviate his pain. 

After extensive testing, the Texas Children’s (TCH) Rheumatology Clinic ruled out juvenile rheumatory arthritis.  However, in doing so, Cole's blood work kept returning very high levels of ALT and AST.  ALT and AST are liver and muscle enzymes; so at that point we began researching a possible liver or muscular problem.  An issue with muscles was ruled out, and yesterday we spent the day at the TCH Liver Clinic trying to understand what could possibly be wrong with Cole's liver (not to mention the joint pain we're still trying to understand).

After extensive discussions and a comprehensive review of Cole's chart, his Dr. believes he has something called Alagille Syndrome.  Alagilles is marked by 5 'typical markers':

-Elevated liver enzymes: Cole

-Heart deformity, most commonly pulmonary stynosis: Cole

-Facial features typically, broad forehead, deeply recessed eyes and a pointy chin: Cole

-Butterflyed vertebrae: Cole, X-rays confirmed this yesterday

-A 'mark' on the back of the eye which can be seen by an Ophthalmologist: an appointment has been set to have his eyes checked

As it stands, Cole has 4 of the 5 characteristics, with his facial features strongly representing those of an Alagilles child.  At this point, his Doctors and Marc and I, believe this diagnosis to be very accurate.  He will undergo genetic testing to see if he also has the Alagille mutation, but that will take some time to get results.  In the mean time, he is scheduled for a liver ultrasound tomorrow and will be having a livery biopsy sometime in the next week or two.  He will also be visiting the Allergy & Immunology Clinic at TCH tomorrow, as we still have no answers as to why joint pain persists.  The liver biopsy will mark his first overnight stay in a hospital, but is in reality, a minor procedure...due to some of the clotting problems Alagilles kids have, they will monitor him overnight after the procedure (still waiting to hear back from the Dr. on the final scheduling).  From there he will see an ophthalmologist and we will reassess his condition with the additional information we'll have at that point.

At this point, it appears that Cole's case is on the milder end of the spectrum.  Were his case severe, he likely would have needed a liver transplant by now.  We will know a lot more about his prognosis and long term future in about 6 weeks, once all of the tests are complete.  In the mean time he has begun taking a few medications which should alleviate some of the bile build up and which will help him to absorb fats and vitamins.

I have included a few links for you to read about the syndrome.  I know I've included a lot of information here, but I'm sending this email to everyone, and I want you all to feel as informed or "in the know" as you want to be. 

Regarding the rest of us, things are well.  We will begin testing Jack for Alagilles in a few weeks, starting with a work up of his liver functions (ALT & AST) and then only proceeding if his levels are elevated.  Because Alagilles is genetic there is a 50/50 chance that Jack also has this condition.  Marc and I will also likely be tested at some point. 

Marc is still enjoying his job and is making new contacts every day.  Please think of him if you know someone who may be in the market for big time construction equipment.  I'm in school and working.  My job situation is still up in the air, but I'm praying that I can at least make it through October here, so that my severance will carry me through graduation (in DECEMBER!!!!). 

Feel free to email me your questions.  I am still rather emotional about all of this, and it's easier if I'm able to address your questions virtually then trying to choke back a phone call.  Thank you all for understanding my way of coping with this information overload.  We believe this diagnosis is a blessing, and though I personally am still trying to get my mind wrapped around everything, we're glad we know what's going on with Cole's body and that we can finally begin to help him.

Love,

Dorian

Here are the links to follow regarding Alagilles. 

http://www.liverfoundation.org/education/info/alagille/