When it comes to rare diseases, the diagnostic process can be long and arduous. On average, patients wait around 7 years for a diagnosis. Oftentimes, this also complicates treatment and patient outcomes. For patients with primary ciliary dyskinesia (PCD), this remains true. Additionally, there are few health centers in the United States with expertise in diagnosing and managing PCD. However, according to the Long Beach Post, the MemorialCare Miller Children’s & Women’s Hospital Long Beach recently began a PCD Clinic to help address this unmet need.
Primary Ciliary Dyskinesia Clinic
Early identification and treatment are crucial to prevent progressively worsening lung damage. Without this, quality of life (QOL) is reduced. The PCD Clinic hopes to address this by identifying, diagnosing, and treating children with PCD early in their condition. Additionally, this can help slow disease progression and improve QOL. Patients visiting the clinic will have access to pediatric pulmonologists, pediatric otolaryngologists, medical geneticists, dietitians, social workers, and more. Altogether, this comprehensive team offers a high level of support.
The PCD Clinic, the only clinic of its kind in Southern California, resides within the Children’s Pulmonary Institute. Outside of PCD, the Children’s Pulmonary Institute also diagnoses, treatments, and other resources for children with cystic fibrosis (CF), asthma, and sleep disorders. Learn more about the Pulmonary Institute here.
If you’re interested in finding out more about the PCD Clinic, or getting in touch with the MemorialCare Miller Children’s & Women’s Hospital Long Beach, head to their website.
Primary Ciliary Dyskinesia (PCD)
Primary ciliary dyskinesia (PCD) is a rare inherited disorder which affects the lungs and other internal organs by causing ciliary issues. Throughout our body, there are cilia, hair-like cell structures which extend from a majority of our cells. Normally, cilia move together to perform certain functions. For example, in the lungs, the cilia move mucus, germs, and other particles out of the lungs. As a result, the lungs remain clear of fluid, mucus, and bacteria. But in patients with PCD, the cilia malfunction. Typically, DNAI1 or DNAH5 gene mutations cause these defects, preventing the cilia from moving properly or at all. An estimated 1 in every 16,000-20,000 births has PCD. It affects males and females equally.
In about 50% of patients, their internal organs are reversed from normal positions. In around 12% of patients, the heart, liver, spleen, and intestines are either abnormally shaped, abnormally located, lacking, or multiplied. Other symptoms include:
- Chronic cough
- Infertility (in males and females)
- Ectopic pregnancy (in females)
- Neonatal respiratory distress
- Nasal congestion
- Frequent ear and respiratory infections
- Hearing loss
- Severe lung damage