(added to this Site September 30th 2002)

We thought Sean was normal until he passed his 6 month mark. At six months he had a severe reaction to his immunizations and he was not tested for anything. We also had to switch pediatricians because our insurance changed.. We loved our ped SOOOO much, but she was not on our new insurance.
I had stopped nursing him at 6 months. From 6 months to 12 months he had a horrible cough/wheezing/congestion thing going on-- he was put on antibiotics for ear infections and the cough would go away with it until a few days after he was off of them and then return.
At 7 months he had not gained any weight, then at 8 months no weight gain. My first son Matthew had ALWAYS gained a pound or more a month, so this worried me, but the new ped brushed it off.
By 9 months he still hadn't gained any weight. The ped then said he would test him in a month if he had still not gained. He was going to do kidney and liver tests. Well 9 months came and went -- he never tested a thing.
He would tell us that some babies go 3 or 4 months without gaining weight. So we naively believed him.
He did a CBC at 11 months that showed neutropenia and had Sean retested in 2 weeks. After that we left his office for a new ped, the first tests was *lost* the second test had an ANC of 2000 and he told us that Sean was fine - a virus caused it. I knew enough to know that it wasn't fine.

We decided it was time just to pay out of pocket and go into see our old ped. I still remember that day.
She was shocked when she saw Sean and was angry the other doctor did not run any tests. She ran blood tests, but the CBC was not run at the lab because they had an *accident* -- his CO2 was low and he had other things that were off.
She called us at 8 PM that night and told us that she though Sean had CF, and he would have to be tested. She ended up being VERY close with her initial impression.
Her daughter's pediatrician took our insurance, and she got us in to see him. He ran more tests, kidney function, and ruled out Renal Tubular Acidosis. We went for a CF sweat test and it was negative. Then he gave us a referral to a GI.

The first visit to the GI, I was floored because she told us we would wait one month to see if Sean gained any weight and had us speak to a dietitian and social worker. We pumped so much food into him and he still never gained. When we got back to see her, she ordered a spot fecal fat and some blood work, CBC, antigliadin, and antireticulin (SP) and antiendomesial antibodies tests to see if it was possible he had celiac.
His 72 hour fecal fat showed significant malabsorption and that is a sign of celiac. I had read the medical textbooks and knew celiac was the next step. He had high gliadin antibodies, so she decided to do an endoscopy to look around and do biopsies and run the disaccarhidease test (tests to see if the brush cells are secreting enzymes). On the day of the endoscopy she did a CBC, too. The results of the endoscopy were normal. BUT his CBC came back with a low ANC (260 if I remember correctly).
She walked into the room and told me that she thought Sean had something called Shwachman-Diamond Syndrome (but could not spell it) and we were to meet with the Hematologist that afternoon -- she had already scheduled the appointment.
We saw the hematologist who scheduled us for a bone marrow biopsy the following day to rule our leukemia and check his marrow. We do not have that report, but we have all the others (Sean has had 6 bone marrow biopsies). At that time his marrow looked normal.

We did full body x-rays and sent blood up to Canada to have it tested. Sean had a normal serum trypsinogen (at that time Canada was not doing the isoamylase as part of their study). Canada also thought that the serum trypsinogen was the be all and end all of SDS tests... and they told us Sean probably did not have SDS.
Our GI talked to Dr. Durie who told her that he probably did not have it , but that he needed to be watched VERY closely. We repeated the sweat chloride test and did a genetic test for CF. Both showing he did not have CF. We had another GI involved and he did 2 pancreatic stimulation tests on Sean in an attempt to definitively diagnose him. We found out later that he had abnormal results on his stim test.

Meanwhile I was reading all of the medical articles I could get my hands on -- and found out that a normal serum trypsinogen didn't mean he did not have SDS, that even a normal pancreatic stimulation test does not mean that he did not have SDS. A person has to loose over 98% of their pancreatic function before they have it show up on the assay.

Backing up a bit -- when Sean was 6 months old we found out we were pregnant with Joseph... so by the time we got to this point, Joseph was 10 months old and exhibiting the same symptoms. I told both GIs about it -- I was told not to go on a wild goose chase, etc.
I was perplexed how they could be telling me they thought my one son had a GENETIC illness and would not test Joseph for it.

Sean lost weight and we were thinking of tube feeding. At this point the second GI we saw decided that Sean was really fine-- we just were not feeding him enough, so we returned to GI number one. We had also started seeing a new hematologist and Sean had 2 abnormal bone marrow biopsies. At first this new hematologist thought Sean's neutropenia was no big deal. Then he went from "it's no big deal" to "He may be going into aplastic anemia". My heart ached and ached.

Meanwhile we forced our ped to do a CBC on Joseph because he was slipping off of the growth chart. I told him that I would stop bugging him if it came back normal. His ANC was 1600 and he was going to let us go. I made him refer us to a hematologist and he has 1000 ANCs for MONTHS.
The hematologist would not order a 72 hour fecal fat to confirm the diagnosis and the GI was out of town. Chris got a new Job here in Danville (we were in San Antonio) and we wanted to get a firm diagnosis before moving so that we would not have this same fight with the docs when we moved here. Little did we know how wonderful our new doctors would be! We finally got in to see the GI and Joseph had 73% malabsorption (it is supposed to be less than 7%) and the neutropenia-- he was diagnosed.
We tried to get the hematologist to do a bone marrow biopsy, but he would not. He thought having and ANC of 1000 was no big deal.

NONE of these docs would read the medical articles I copied for them. An uncle works at Johns Hopkins and had sent me a bunch and I had gotten several by ordering them. They wouldn't listen to the fact that the ANC in SDS didn't matter-- all these kids have the same risk of developing leukemia or aplastic anemia.

Once we moved up here... Canada did blood work on both boys and Joseph had an abnormal isoamylase and a normal serum trypsinogen. THAT clinched the diagnosis for both boys.

The new Hem here did biopsies on the boys and they had increased blasts 10% for Joseph and 9% for Sean. They have other things that indicate early myelodysplastic syndrome, but I won't bore you with those details. We have to watch them carefully.... most SDS kids also have impaired neutrophil motility (meaning they cannot move to the site of infection) and they do not function properly. So even with decent ANCs, we have to worry about them. Thankfully our new docs understand this.

All our docs are 1 1/2 hours away, but it is worth the trip. We don't have pediatric specialists here in town..
I am always interested in talking to other parents of SDS children or people that have SDS... you can e-mail me at paxchristi@earthlink.net

Pattie Curran