Extraordinary Everett - BPAN

BPAN is a neurodegenerative disease (subtype of NBIA) that was newly discovered in 2012, effecting the WDR45 gene. Our son Everett was born without complications and had all typical infant behavior. We noticed delays at about 5 months old. From there he has made small gains. He is fully dependent on others to help care for him. Our goal with this page is to help bring awareness to this RARE syndrome. We hope that someday we will have a cure. Until then we will do our part in the fight to continue research and discover information, so that others may have a clearer path to the life of those with BPAN.

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The backstory: Everett, born November 2010 has a fairly average birth story. I had a great pregnancy with him that ended with an emergency C-section when Everett's heart rate dropped during labor. He was the perfect baby. Eat, sleep, poop. And that's what he did and was very good at it.

We did not know that Everett was battling something until he was 5 months old. So, for 5 months, every time I had a feeling or concern because Everett wasn't doing what my friend's babies were doing, I assumed he just needed a little more time.

At Everett's 5 month check up we asked the doctor if we should be concerned. His response, "we won't worry about anything until he is 6-7 months. One of you must not of walked until you were 18 months." Suggesting that it was just normal genetics and not something that would be life altering. At that point Jason and I knew we needed to seek a health professional and hospital that would not only listen to our concerns, but had the resources to find us answers. That's how we started this journey at Sanford Children's Hospital Sioux Falls.

Our first stop- a new pediatrician. She suggested we get an MRI of Everett's brain.

THE FIRST DIAGNOSIS: This came from the first neurologist we visited with who diagnosed Dandy Walker Syndrome. She then assured us that he will be just fine, he may not be good at sports because he will be "clutzy". Her words, not mine. And suggested we start therapy services with him to try and get his development caught up.

At this point we felt heart broken. I feel foolish now thinking this was the worse news we could have received. That was until he was 9 months old and he still had not rolled over, still could not sit unassisted, and was just starting to bat at toys. We knew the original diagnosis has to have been made incorrectly.

THE SECOND OPINION: This was done at another hospital. The doctor barely looked into Everett's case and just told us that it's still Dandy Walker Syndrome, it has just effected Everett more than thought.

At this point Jason and I were furious with no answers or misleading ones. We went to our follow up appointment with the first neurologist ready to chew her out. When we showed up we found we had been bumped to the new neurologist.

DIAGNOSIS #2: We were still upset with not getting any answers, however, the doctor walked through every slice of Everett's brain MRI, explaining what he is looking at and why he doesn't think it's Dandy Walker Syndrome. We said great, so what is it? His response "I don't know yet.". That is when we started our journey with genetics.

Everett's new diagnosis: UNDIAGNOSED DEVELOPMENTAL DELAY.

We went 2 1/2 years of not knowing what Everett has, or what happened to cause this. February 2013, Everett has just turned 2 in November we met with genetics. They knew the only way to know what Everett has is by, a very new genetic test called Whole Exome Sequencing. This is where they look at all of Everett's gene sequence to find any that may be incorrect. This is huge, since past genetic tests can only look for specific syndromes, this one can find specific syndromes.

(For example, a child with downs may have physical features and therefor the doctor can send a genetics test to determine downs specifically, whereas someone like Everett who has no physical appearance other than his delay in milestones, it's difficult to pinpoint what syndrome to test for.)

Six months later we has a true diagnosis.

FINAL DIAGNOSIS: BPAN, Subtype of NBIA / WDR45

Say what??? This syndrome is extremely rare. It was only discovered as a syndrome in 2012 and only 30 people in the whole world, at that point had the genetic link to this syndrome. If you think about it, Everett was born in 2010 and his syndrome was only discovered in 2012. It didn't exist when we first realized Everett was different. So, even though we went 2 1/2 years without answers, it was worth it, since we would still be answerless should we have ran the genetic test 2 years prior.

WHAT DOES THIS MEAN FOR EVERETT: We don't know. All of those they know that have the affected WDR45 gene are older and seem to have different symptoms than Everett. Majority of those that survive the pregnancy are female, as this disease affects the X chromosome and therefore males rarely survive the development process in utero and is fatal to the fetus. This is a degenerative syndrome that will affect Everett later in life with the accumulation of iron in the brain.

We remind ourselves that Everett is already beating the odds by being here and being extraordinary, so we continue to treat Everett and spend little time on what he has and all our energy on who he is. We have good and bad days and even though our normal is different than most, it's still our normal.

We have agreed to have Everett be a part of the research study, so that those years from now will have the answers we don't. I should add that this is not a genetic condition passed down from the parents or family genetics. It is spontaneous and Everett had less than 1% chance of getting this. His little brother has a 0% chance of having this condition.

Due to the rarity of the disease, with less than 200 registered cases worldwide, there is little funding for researching BPan and research in finding a cure. With our efforts we hope to change that!