Diagnosis

Our lives seemed normal until Sean reached 6 months of age.  He had a severe reaction to his immunizations and we really thought nothing of it.  Our insurance changed at the same time and we had to switch pediatricians.  We loved our pediatrician and were sad about the move, but we figured all we'd need a pediatrician for was well check-ups and shots.  Little did we know!

Starting at 6 months, Sean started having more problems that the reflux he was diagnosed with at a few months of age.  He stopped growing and gaining weight properly.   This was brushed off by the new pediatrician month after month.   Sean had continual high fevers and recurrent infections.  We would bring him in with fevers of 105 and be told over and over he had Roseola!   We knew something was wrong by the age of 9 months because our first son had gained a pound or more a month from birth (Matthew more than tripled his birthweight by one year) and was rarely sick.

Sean ate huge amounts of food and we could barely measure his gain of weight in ounces.  (To give you an idea, he gained 4 ounces from the age of 6 months to 18 months even though he ate like a raveneous wolf). Meanwhile the pediatrician continued to put us off, he would say that if he did not gain weight by the next month, he would test his kidney function or do a blood count.  We believed him.  He would tell us that some babies go 3 or 4 months without gaining ANY weight.  This ped agreed to do a CBC (complete blood count) at 11 months and this showed Sean had neutropenia.  A few weeks later we retested his counts and he was barely normal.  I knew we needed to figure out what was going on.

Sean was a year old and his hair seemed to be thin and falling out.  SOme people commented that he looked like he had "chemo hair" .  We decided to pay out of pocket and visit our old pediatrician with Sean.  When she first saw him, she was shocked to see he had barely grown since she had seen him 6 months earlier.....and that he had not gained weight.  She knew Matthew for his first 2 1/2 years and knew that something was wrong with Sean.  She offered to get us in with her daughter's pediatrician who was on our current insurance and we were thankful.  He was not taking any new patients, but she got us in.  She asked if we wanted to wait to run a few tests and we said no.  We wanted to run a few things to get the ball rolling--even paying out of pocket.  We did not care about the cost.

She ran blood tests (CMP) and a CBC.  The lab lost the CBC, but when she called that night with the results, she told us she thought he had Cystic Fibrosis (CF) because many CF kids have low CO2.  It is amazing because with the little info she had, she came the closest anyone would come for another 6 months!

We saw the new pediatrician who ran a few tests to rule out renal tubular acidosis and othe rkidney function problems.  He also sent us for a sweat chloride test, which was negative.   After these tests, he referred us to the GI.   I was floored at the first visit witht ehGI because she examined Sean and said we would wait one month to see if he gained any weight.  She then sent in the social worker and a dietician in to talk to me.  Sean was getting more than enough food, but failed to gain weight properly or grow as he should. 

The following month the GI ran several blood tests, including a CMP, CBC, antigliadin, antireticulin and antiendomesial antibody tests.   She did a spot fecal fat, which came back positive.  We followed it up with a 72 hour fecal fat collection which showed that Sean had pretty severe fat malabsorption.   When the antigliadin tests came back high, the GI was 99% sure Sean had celiac disease.   She set up an endoscopy to biopsy his esophagus, stomach and intestines.   She did a disaccarhidease test to be sure hte brush cells were excreting the proper amount of enzymes.  

When we had our next visit, the GI walked into the room and told me that she thought Sean had something called Shwachman-Diamond Syndrome.  When I asked her to spell it, she could not.  She told me that Sean had an ANC of 260 and that he needed to see a hematologist/oncologist.  She had made an appointment for him to be seen that afternoon.   We arrived at the hematologist and were told he needed to have a bone marrow biopsy to rule out leukemia.  2 days later he had his first bone marrow biopsy.  We were told it was okay.   To this day, no one can locate the actual biopsy report.

The doctors sent blood up to Toronto to be tested.  Toronto was searching for the SDS gene and doing quite a few SDS studies.  They ran the serum trypsinogen test there, too.  It was a crazy time.  Our doctors felt Sean had SDS, Toronto was not sure.  Yet, when our doctors spoke to the doctors there, they were told to be sure Sean was followed closely and had regular bone marrow biopsies.

Our GI repeated the sweat chloride test and ran the genetic testing for Sean through Ambry.  Sean had no known CF mutations.   We went to another GI who did 2 pancreatic stimulation tests on Sean that showed decreased enzyme output.  We had already started him on enzymes and he gained 2 pounds the first week!  It was amazing....we felt we had our answer.  Sean had SDS.  The next two bone marrow biopsies showed that he had some abnormalities.   The new GI felt that his neutropenia was no big deal...... 

We were also noticing that Joseph was showing signs of having SDS, but we were told that we were going on a wild goose chase.  I did not understand how they could say my one son had a genetic disease and then refuse to test a second son who sowed symptoms!   We gave up asking for a while.

It wasn't until Joseph was almost two and we were participating in an SDS study that we again pushed for answers.  Two doctors examined our family and got to Joseph, looked at us and said, "He's off the growth chart for height and weight, have they ever tested him for SDS?"    What a long story....when we arrived home,  I forced the pediatrician to do a CBC.  I told him that I wouldn't bug him again if it came back okay. Joseph's ANC was 1600 and I convinced him to send us to a hematologist.  I didn;t feel comfortable with hsi ANC being borderline.  The next several were 1000.  The hematologist refused to do a bone marrow biopsy, even though Sean had abnormal bone marrow!  I tried giving them medical articles to no avail.  Sean's ANCs were worse, but they both had the same risk of developing leukemia according to medical literature. 

The GI did a 72 hour fecal fat on Joseph.  He ate an average of 44 grams of fat a day and excreted an average of 33 grams a day.  73% fat malabsorption.  (Normal being 7% or less)   She said he had significant fat malabsorption anda decided with teh low ANCs he had SDS.

It wasn't until we moved from San Antonio to North Carolina that Joseph had a bone marrow biopsy for the first time.   (!999)  SInce that time we've had many more biospies, lots of worries and we are still taking it one day at a time.   In December 2006, we went to CCHMC and Joseph was found to have an increased percentage of del (20q).  We returned in March 2007 for repeat marrows adn will go back in August 2007.  Both boys have decreased cellularity.  Joseph was run through the registry and doesn;t have a matched potential donor.  He has a few mis-matched donors that may turn out to be good enough matches should he need to go to transplant.  Sean has a perfect sibling match in Matthew. 

This is the short version of our diagnosis journey.