After seeing a post on Facebook the other day I was reminded that I wanted to write a little bit about the other syndromes associated with Albinism in a bid to spread awareness to parents of kids with albinism. I briefly touched on or maybe mentioned that there are other syndromes that can be related to albinism but failed to provide more information. I will try not to get into the heavy duty medical jargon, hopefully, I can simplify it into something relatable and understandable more for myself than anyone else. What is it they say, if you can read something, digest it and then explain it to someone else then you have fully understood it? Well, that is the idea anyway.

The syndromes are called Hermansky-Pudlak Syndrome (HPS), Chédiak-Higashi Syndrome (CHS), Griscelli Syndrome (GS), Elejalde Syndrome (ES) and Cross-McKusick-Breen Syndrome (COMBS)  all are pretty serious and coincide with the other symptoms related to albinism. All affect lifespan because of the health problems associated with the syndromes.

Hermansky-Pudlak Syndrome (HPS)

• A type of albinism characterized by a bleeding disorder.
• Conditions associated with it are an inflammatory bowel disease and pulmonary fibrosis.
• It’s severity and onset vary greatly.
• Many physicians have not heard of it.
• Children with albinism are advised to not take aspirin or products that affect platelet function unless it is certain they do not have HPS.

Chediak-Higashi Syndrome (CHS)

• A rare genetic disorder that is inherited in an autosomal recessive manner, meaning both parents are expected to be carriers of the abnormal gene.
• Affects many parts of the body particularly the immune system
• Most people with CHS have repeated and persistent infections starting in infancy or early childhood.
• Blood clotting is another problem associated with the syndrome that leads to easy bruising and abnormal bleeding.
• The nervous system can also be affected, causing weakness, clumsiness, difficulty walking and seizures.
• If not successfully treated most children with CHS reach a stage known as the accelerated phase.
• The accelerated phase is thought to be triggered by a viral infection and is considered life threatening.

Griscelli Syndrome (GS)

• Characterized by unusually light skin and light silvery-gray hair starting in infancy
• Three types of the disorder have been identified:

1. Involves severe problems with brain function in addition to the distinctive skin and hair coloring. Individuals typically have delayed development, intellectual disabilities, seizures, weak muscle tone and eye and vision abnormalities.
2. Involves immune system abnormalities in addition to have hypopigmented skin and hair. Individuals are prone to recurrent infections. They can also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH) in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissue throughout the body, causing life-threatening complications if the condition is untreated.
3. Hypopigmented skin and hair are the only features of Griscelli syndrome type 3 people with this form do not have any of the other abnormalities or problems as 1 or 2.

Elejalde Syndrome (ES) has many of the signs and symptoms associated with Griscelli Syndrome. Some researchers have suggested they are in fact the same disorder.

I believe testing is now commercially available and insurance can pay for it for Hermansky-Pudlak Syndrome (HPS) but I don’t know about the others. I really only knew about Hermansky-Pudlak Syndrome (HPS) as we were told to be on the look out for any marks or bruising on Nash.

A month ago my husband did notice dark marks all over Nash’s bottom and legs. It just so happened he had his ophthalmologist appointment the following day so I made a point to mention it. After much examination and a lot of rubbing with a wet cloth, the marks seemed to start to fade. She told me to go home and try some more and if they didn’t then get back in touch with her. Sure enough, the marks did disappear and we came to the conclusion that it wasn’t  bruising. I couldn’t for the life of me work out where the marks could have come from. A couple days later whilst out for a walk Nash was eating some freeze dried blueberries, I think he was also smearing them all over himself after I noticed those same dark marks. In the end it turned out Nash’s ‘bruising’ was just marks left behind by squashed blueberries, I was slightly embarrassed I am not going to lie.

As I type this it makes me laugh out loud at the ridiculousness of it all. But I realized no matter how ridiculous it is, it is better to be vigilant and thorough and it pays to mention anything you think may be unusual because these kids need us to be their advocates. They can’t speak up about how they feel at this age. It is up to us to pay attention. No question or concern is too stupid or small.