My name is Kelly and I am Bug’s Mom. I want to share our experience so far… The search for a diagnosis for a rare disease is much like running I suspect. You run a bit each day, make small goals, take steps back, reach great milestones and hopefully at the end finish the marathon. If you can do that as a member of a team that can support you in your individual day to day than all the better. That is how I saw this opportunity for my family. An opportunity to stand with a team instead of facing each day on our own.
I am sure that any patient partner or patient partner family can tell you that the search for diagnosis of a rare disease can be a marathon in its own right, you take steps forward, steps back, and reach milestones with a goal of diagnosis at the end. I do not know how it is to run a marathon but this search for a rare diagnosis can be isolating. It is emotionally, physically draining some days, other days are full of hope. It has been for us a long and curvy route with many hills and valleys.
When we started this new exciting partnership with Genzyme Running 4 Rare we represented the undiagnosed community… Well, kind of.
It had been decided last March that it was time to proceed with full exome sequencing for Steven our 6 year old, whom we warmly refer to as Bug. They had decided that they had already tested as many individual genes as they could and the next most cost effective step which would yield the most useful information was exome sequencing. To our great surprise our insurance company agreed.
When I spoke with Phil the first time, I had just received back the report and only had a list of mutations. Possible disease names. No confirmed diagnosis made. No full understanding of the meaning. No idea of any of it’s meaning. Definitive mutations. Variants. Dominant. Recessive. Mother. Father. SO MUCH INFORMATION! In my naïve brain I had thought that the exome sequencing would be the end all be all. Whatever IT said would be the end of it. If it had the answers, which we were warned many times it may not, but if it did, it would have a name for what ailed Bug. Not quite I guess.
We have quickly learned that there is a lot more work to do. You see, some people have full exome sequencing done and get back a whole lot of nothing and then you have Bug. We have always laughed about Bug liking to do things REALLY REALLY rare! And this time he may have really pulled it off to the extreme. You see our little Bug’s test didn’t come back with just one active rare disease but at least 2 that have already been confirmed. A third is in the process of being confirmed at NIH. If all three are confirmed his doctor thinks he may actually be the only one in the world with three rare genetic diseases. Not the trifecta one strives to hit.
Bug has been diagnosed with a mutation of his ATP1A3 gene or his Sodium Potassium Pump. He has just been diagnosed with Alternating Hemiplegia of Childhood. The variant he has is of course different than all of the others and he is the only one in the world reported to have it which is why it took them a little while to diagnose the Alternating Hemiplegia of Childhood. He also presents a bit different than other people with this disease (surprise surprise). They are in the process of growing Bug’s cells alongside healthy cells to determine how his sodium potassium pump functions differently. Alternating Hemiplegia of Childhood is a rare neurologic disorder causing paralysis of a portion of the body, including the face, usually effecting one side of the body or the other. It ranges from simple numbness in an extremity to full loss of feeling or movement. Episodes can last for minutes, hours or even days and are only alleviated by sleep. Episodes usually alternate from one side of the body to the other. Bug’s episodes are mild and often only effect his legs, cause falling, ataxia or include pins and needles. This diagnosis explains many of Bug’s existing problems such as eye mobility problems, delayed Development, suspected seizure activity and his episodes of ataxia and falling. Finally we have a probable cause for these episodes and he is just learning to be able to tell us what he is feeling. There is great information on AHC at www.AHCkids.org
The second confirmed disease is a disease of the NLRP3 gene. Muckle Wells Syndrome which is an Autoimmune Disease which causes inflammation, fevers, kidney disease, gut issues, sensory hearing loss and eye issues. Bug was graced with mutations on this gene from both Mommy and Daddy. Like one wasn’t enough. No one seems to know the prevalence of Muckle Wells other than it is rare. Muckle Wells explains Bug’s constant “eye boogies”, his unexplained fevers, and hives and may be the explanation to some of his gut issues. Finally we have reasons for so many things that have gone unexplained for the last 6 years.
His third gene mutation falls on his MYO5A gene and this one is the one that is still up in the air. We are awaiting results from NIH where samples of Bug’s hair have been sent, some normal blond hair and some silvery gray. They suspect that Bug has a mosaic form of Gricselli Syndrome type 1. If this proves to be the case he also may be the only person reported with a mosaic form of this disease. Gricselli Syndrome type 1 is comprised of hypomelanosis and severe central nervous system dysfunction.
All of this information is of course overwhelming. We have also been inundated with appointments with all of the right specialists and to find out where Bug’s labs stand now, what is base line, what we need to be screening for and how to practice the best preventative medicine to keep him healthy. The reality is, there is no other person in the world where these 3 very rare genetic diseases reside simultaneously within the same little brave human being. So we have no idea what is to come. We can look to what we know of these 3 different diseases (which by the way isn’t all that much) and we can rely on our very smart team, but there will be a lot of questions as Bug grows.
So, in the time between my initial call to Phil and when he called me to tell me Van would be our partner much has been occupying us medically. Appointments are stressful on Bug and for Steve and I too. So when Phil introduced us to Van I hoped for smooth sailing. In my first contact with Van I let him know that we venture to Cambridge where he lives to our favorite Chinese restaurant every Friday night and asked if it was convenient to him. I was delighted when he said yes, I was so grateful for an easy start. If there is one thing that has been stress free and fun since this process started it has been building our partnership and friendship with Van!
Like I said we started with Friday Night Chinese and Van rolled with it like a champ! Bug is easily over whelmed by noise as he is also diagnosed Autistic and visually impaired and has sensory processing issues. We like to go out to dinner early, 5pm. No problem with Van. Bug has a particular table he HAS to sit at. No problem with Van. Bug orders the same thing every time we go. The waiter doesn’t really need to ask, he does to be polite and let Bug order for himself. It is a game they play. Bug allows for additions but no changes and certainly no deletions. No problem with Van. Bug uses his earphones and iPad when the restaurant becomes overwhelming. No problem with Van. It was wonderful. Van got to know Bug while the restaurant was still quiet and when the noise picked up Bug plugged himself in and Steve and I had a chance to chat and get to know Van a bit. At the end of dinner Bug offered Van a ride home and we made plans to meet for dinner again the next Friday.
The next Friday came fast and we were all willing to be brave and venture out of Bug’s comfort zone! I sent Van an email and said “Dinners on! Here is the challenge, Bug’s willing to try somewhere new! Just remember he doesn’t do loud well!” I thought, Van is either going to run for the hills or jump at the challenge, and just as my gut had told me… No problem with Van! He took the challenge and met it! He came back with a perfect choice. A restaurant with burgers (He was obviously listening, Bug had mentioned his love for burgers a bunch), hotdogs and mac and cheese. A kid’s paradise! And they had good Mommy and Daddy food too. Not to mention it was a restaurant that wasn’t actually a kid’s place which was kind of nice for Steve and me. Bug loved it. Loved his new waitress friend and the music, the food, and he and Van had a blast getting to know each other better. This time, no problem for Bug! For all of my nerves about this process and not knowing what to expect, I have to say, it is exactly what I hoped for. We have been meeting Van for dinner almost every Friday night. We even went bowling one night and this past week we had him to our home for Sunday Dinner. It is hard to be Rare. It is hard to go through the diagnosis process, but it is so much easier to do when you have people around you who want to share with you your story, who either understand or strive to understand the challenges families like ours go through. So far this experience is everything and more than I, we expected.