I typed up all the notes I took at the doctor sessions at Camp......I am not a doctor.....and these are just my notes....consult your physician before trying or changing treatment!
We had some interesting talks today! First, Dr. Durie went over the clinical diagnosis of SDS and how it is established, etc. It is difficult to diagnose because there is no one single test and many organs can be affected. There is variability in presentation from person to person. There have been some patients who have had a large liver and that was the single thing that alerted doctors to start looking.
Requirements for diagnosis:
1) exclude other diagnoses
2) exocrine pancreatic insufficiency
3) bone marrow dysfunction
there are many conditions that are like SDS—disorders of the pancreas, various other hematological abnormalities and other growth disorders.
SDS 3-5 %
Johanson Bizzard <1%
Pancreatic hypoplasia/dysplasia <1%
Isolated enzyme deficiency <1%
Dr. Durie shared that in all of his many years of practice, he has only diagnosed one case of Johansson Blizzard and 50-60 cases of SDS. Just to give an idea of how rare the other causes of pancreatic insufficiency/ pancreatic disorders are.
The bone marrow problems in SDS are not always easy to detect. Neutropenia can jump up and down.
The main skeletal abnormalities in SDS are:
1) abnormal Metaphyses
2) rib cage abnormalities
3) delayed bone age
4) progressive deformities
6) pathological fractures
skeletal problems may not be present at infancy but manifest at a later age. Short stature is part of SDS not from the malnutrition or malabsorption. Malnutrition is corrected with enzymes and proper feeding. i.e. SDS folks have short stature by nature. Not all SDS people have a growth problem. In fact, SDS patients can absolutely have normal growth. They have recently diagnosed a patient with SDS who is 6’3”—SDS had been overlooked because the patient was so tall and his growth was so normal.
Mutations are found in ~90% of patients. There may be another gene responsible… SDS is a clinical diagnosis—not going to find mutations in everyone and/or don’t always pick up the mutations on the gene.
Obligatory for diagnosis: Exocrine pancreatic dysfunction, bone marrow dysfunction
Common: short stature, skeletal abnormalities, hepatic, behavior
He also mentioned something I thought was interesting (especially since Joseph is in an eczema flare) – a skin rash is common and it is like an allergic eczema rash.
Other things I noted from his talk:
in SDS weight is usually proportional to height—pushing feeding doesn’t make them grow more.
Bone age delay—at puberty bones have longer to grow
Part of SDS
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America