{Guest Post} The DiGuglielmo Family: CJ’s Life with Albinism

Today’s post is one very close to our family. My beautiful nephew, CJ, who is the same age as Sienna, was born with Albinism, a rare genetic condition caused by a recessive gene. Through this special guest post from my sister-in-law, Christen DiGuglielmo, we hope to shine some light on Albinism, which affects an estimated 18,000 people in the U.S., and also invite Bergen County, NJ families to join us on May 5^th for a special event for CJ to raise awareness for Albinism and funding for NOAH, The National Organization for Albinism and Hypopigmentation. I turn it now over to Christen:

On Thursday, October 13^th, 2016, my husband, James, our then 2 1/2 year old son, James and I awoke in the early hours of the morning ready to take on the day. Whereas our previous early mornings started with breakfast and a few episodes of Curious George, this morning was different, as we were on our way to Valley Hospital, ready to greet our son Christopher Joseph, “CJ”, into the world via a planned C-section.

We already knew how special and exciting this day was before CJ arrived at 1:01pm in the afternoon. We would soon realize that our second born boy was really special when he was born with a full head of white hair. It wasn’t until his first pediatric appointment 5-days later when his doctor diagnosed him with Oculocutaneous Albinism or OCA for short, that we fully appreciated just how special CJ was and how our roles as parents would change.

As we would learn, a person with Albinism produces little to no melanin pigment in their hair, skin and eyes. This means that CJ has fair skin tone, striking white hair, the most gorgeous white eyelashes we have ever seen and blue eyes. CJ’s OCA is a rare genetic condition caused by a recessive gene, which means both parents have to be carriers. James and I later found out through genetic testing that we both carry the Albinism gene, which means we have a 1 in 4 or 25% chance of having a child born with the condition. Children born with Albinism are usually born to parents with normal pigmentation. Our oldest son, James, does not have Albinism.   Albinism affects 1 in 17,000 people with an estimated 18,000 cases in the US alone. Albinism does not affect a person’s intellectual capabilities, but does, however, cause low vision and in most cases legal blindness. People with Albinism also have to be extremely careful in the sun.

It was on that 5-day check-up appointment back in October that our pediatrician gave us two important pieces of information: CJ has Albinism and we should get in touch with NOAH. NOAH is The National Organization for Albinism and Hypopigmentation and is the only source for unbiased and factual information on Albinism. We would soon learn that NOAH is not only a source of information but also source of community, outreach, advocacy and so much more. From the first time we called the parent hot-line, we were greeted with an information welcome pack, a parent liaison and friendly voice who understood exactly what we were experiencing in that moment.

Over the next few months, NOAH proved itself to be a source of community as they put us in touch with other local families who had children the same age as CJ and were experiencing the same circumstances as us. What started with a list of names, turned into a regular play-group, where 5 little children and their parents meet once a month. In the play-group, the children play while the mommies and sometimes the daddies share about doctor’s appointments, Early Intervention Services and just the ordinary details of a parent’s life with a child with special needs. This community would not have been possible without the NOAH organization.

But NOAH is not only about community. It has numerous sources of outreach as well. It is through NOAH sponsored events, such as the monthly Parent Connection calls that we hear from successful adults with Albinism. We learn from the experiences of other parents who call from as far as Alaska and as close as Wayne, New Jersey. We are educated on the latest medical advances and education techniques, providing us with information that surpasses most of the mainstream medical communities understanding. And perhaps more importantly, the outreach programs of NOAH have encouraged us to do outreach ourselves, the most recent expression of that being hosting a fundraiser for this mostly volunteer organization in May.

Our journey with Albinism is taken together with the NOAH organization. My family and I will be attending the NOAH conference this July in Kansas City, Missouri, yet another resource provided by NOAH.

As NOAH continues to provide our family with ongoing support and encouragement, we are giving back by hosting a NOAH in your Neighborhood Spring Fundraiser on Saturday, May 5, 2018 from 4:00pm to 6:00pm at 1 Gym 4 All in Waldwick, New Jersey. We invite you to support this organization by visiting CJ’s fundraising page, “CJ’s Crew” at http://app.donorview.com/677N where you can find more information about the event. You can learn more about NOAH through their website www.albinism.org.