The story of Heather
My daughter, Rhea, was born with bilateral cataracts. It was a scary day because the Dr thought she may have had a tumor. Initially, she wanted her to be admitted at Boston Children’s Hospital however, no beds were available. She was seen outpatient at 6 days old that confirmed cataracts. I noticed right away her head seemed a little small. Then every wellness visit her head circumference was not on the chart. Her fontanel closed at 3 months old prompting for a Neuro visit where she was diagnosed with microcephaly. The first year of her life was scary and difficult. We saw specialist after specialist. There was also a point where the drs thought she had Zellweger syndrome, which is terminal, because of her blood work and ocular abnormalities. But, genetic testing ruled that out and we discovered she has a rare genetic variant of the ARPC4 gene.
At the time, she was 1 of 5 children and she was in a research study. ARPC4 to me is a spectrum ranging in severity. Children are microcephalic, have global developmental delays, ocular abnormalities and speech/language deficits. My daughter has all of the above traits and added difficulties which include: cortical visual impairment, strabismus, hearing difficulties, swallowing difficulties, autism, atrial septal defect and peripheral pulmonary stenosis.
It was really lonely the first few years since there were very minimal people with this diagnosis and I was unable to contact any of them. Now, there have been a few more children diagnosed around the world and have been able to be in contact with their parents.
Sharing our stories, tips and tricks, advice and guidance has made this journey not as lonely.
My daughter is now 6. She has had almost every type of therapy since she was 6 months old. She is mobile, has glasses and is using an AAC device for her speech and language. Though, getting older definitely brings new challenges. It is wonderful to see what she has overcome.