Gavin was born 12-10-01. March 2003 he was diagnosed with Hydroxyglutaric Aciduria Type D. A Neurologist suspected a mild case of Cerebral Palsy because I had complained of Gavin being occasionally stiff since birth. He ordered a bunch of tests, a MRI, EEG, blood and urine. All were normal except for the urine and MRI. Hydroxyglutaric acid was secreted in the urine and the MRI showed less white matter than expected. The Neurologist admitted to not knowing much if anything about the disorder other than there is no cure, no treatment.

Hindsight I have learned Gavin stiffens (hypertonia) when trying to conquer a developmental milestone (sitting-up, crawling and walking). He had reflux from birth until 6 mos. He started vomiting again at 8 1/2 mos. about once a week. I expressed a concern to his Pediatrician. An upper GI and swallow study determined everything was OK and maybe he had a milk allergy. He drank soymilk and the vomiting stopped again at 13 months. Because I continued to notice the occasional stiffness and slight developmental delay Gavin’s Pediatrician referred him for a PT, OT and feeding evaluation. He was diagnosed with Sensory Integration Dysfunction (senses over or under stimulated) because he chose to only eat certain textured foods (soft or crunchy). Now he eats anything and everything! As for the stiffness, it was presumed he was probably reacting to standing on different surfaces and preferring one to the other (such as carpet, tile, hardwood floors, grass, etc.) Therefore, therapists concluded his stiffness was voluntary. Gavin walked at 16 mos. after a family vacation. I held his hand and made him walk to and from the pool, breakfast, car etc. The day we got home he got up and just started walking. Gavin walked through the door for his 1st PT appt. He still has a few quirks when he walks. For example some times he looks like he's ice-skating when he walks and I can still see a little stiffness. All in all he is developmentally on target and I hope with continued early intervention he remains that way.

My motivation for posting Gavin’s story is to bring awareness of Hydroxyglutaric Aciduria. It is an inherited, autosomal recessive, organic acidemia. It does range from mild to severe. I believe my son has a mild case. I was told like others it is very rare, only 8 known cases in the world. Since his diagnosis I’ve found more cases. I believe there are others who just don’t know where to go for information. A D2HGA yahoo group was created for parents, doctors and researchers to share information and support one another. If you are some way connected to HGA and would like to join, please go to www.yahoogroups.com and search for D2HGA. Incidentally, we have L2HGA members as well.

There is strength in numbers. Together maybe we can make a difference.

Erica 
Contributed by Erica, Mom to Gavin