So today we got our positive test results back.
Zane has a HRAS Protein Mutation (G12A) aka Confirmed Costello Syndrome
Costello is a rare genetic disorder that affects 200-300 people in the entire world.
Because he has Costello we now know that is what caused his Neuroblastoma and because we know he had neuroblastoma they can assume that is why he also has Opsoclonus Myoclonus Syndrome (please read that section too.. its A LOT to explain) OMS affects only 2-3% of kids who get neuroblastoma
Costello increases a child’s risk of getting three types of cancers… rhabdomyosarcoma, neuroblastoma and bladder cancer by 17%. I have heard other Costellos have gotten Neuroblastoma but I haven’t personally met any online yet. I have heard a few getting rhabdo though. Still searching for possibly anyone out there that could be anything similar to our son.
So Ive joined a lot of facebook groups… One for OMS (I feel like I can relate easier to those who have both neuroblastoma and OMS and young children/babies)
I joined Costello Syndrome group which gives me a basic idea of some of Zane’s weird habits like speech and swallowing, vomiting, irritability and anxiety, etc. But I find Zane is not the same as other Costellos seeing his two very big diagnosis’ Im not finding anyone else like us. They exist tho! Somewhere!
So I feel pretty at home between the two however I’ve gotten to know the Costellos a little more and that may because I’ve been talking to them a tad longer!
What does this mean for Zane ?? Not a whole lot of change, just explains why he has so many problems.
- He will add on a cardiologist to check for arrhythmia and enlarged heart which he has no problems with as of yet
- His neurologist will continue to see him for OMS but also be watching for hydrocephalus and chiari malformation
- His ENT will continue to treat his trachea and laryngo malacia (which is doing so well these days)
- His GI… he already has a G Tube so we are square there and a dietician that makes sure he is gaining (Costellos often get failure to thrive between not being able to eat by mouth and vomiting and refluxing)
- His Oncologist… normally Costellos would then be added to get checked every 3months for cancer but hes already been doing that because of confirmed neuroblastoma so no change there either
- He is expected to have very short stature
- developmental delays (will be seeing a doctor for the delays as he grows these first few years), it will be hard for him to learn how to walk and talk and everything else but he will eventually get there. What is good about Costello is that the brain is not damaged , they just learn everything slower. So he will be able to walk eventually, and talk, etc. When he reaches these milestones it will be because he made a big effort and so did we to get him there. Every milestone will be a very big moment for us.
- Its possible when he starts walking, he may need achilles lengthening or have scoliosis, need leg braces or walkers to help him.
A lot of these things we are already fully engaged in so the diagnosis was somewhat of a relief… to just KNOW who he is finally!
Costellos also commonly have polyhydramnios (see my pregnancy section) (some deliver early from water breaking), larger birth weights that taper off as they get failure to thrive out of utero.
Well one step at a time but this is a big day for us and for Zane. It’s like if Zane could talk he would say “MOM! You found it! ” Like he has been trying to tell me something is wrong since utero and we finally did it! We know who he is! And God love him… seriously… no one else in the world is like him. He is our special gift and we are sooo appreciative and thankful to have him. We will probably live everyday just enjoying that he is here and hoping cancer doesn’t return. And for now im just happy to say he is cancer free!
So next thing on our list is to see Oncology on Wednesday and possibly start OMS treatment. Scarey , yet exciting! I’d like to be able to start bringing him relief from the OMS or to make his life just better even if it takes a few years!
I have a couple favors to ask while I have you all reading !
If anyone wants to donate an item or craft… Im going to hold an online craft fair in february or march to raise money for Costello Syndrome. There is an incentive program and if i can raise enough funds we can get discounts on our hotel stay at the Medical Conference this summer in Orlando, Fl Seaworld. So anyone wanting to donate something i can auction off or sell to raise money… please message me! I will also be doing a letter campaign if anyone wants to help create a mailing list and/or help stuff and mail envelopes.
Another favor…. Can you PLEASE PLEASE brew a cup of coffee, grab your box of kleenex and watch this video about Pediatric Cancer. You will find out after you watch it why I feel so adamant about sharing this. I think it could make a big difference for cancer research and since that is Zane’s biggest threat I feel compelled to become a big part on spreading this message. PLEASE WATCH AND SHARE: http://www.youtube.com/watch?v=oljTL1iuMmY&feature=youtu.be
Last favor…. Im trying to get people to nominate us to be on the Ellen show. I have no idea if it would even work but I think with all he has going on he could bring awareness to a lot of syndromes all in one little boy so I think the impact would be tremendous. It would only take 5minutes of your time to fill out the form here: http://www.ellentv.com/be-on-the-show/433/