I would love to report that everything is all unicorns and rainbows here, but the reality is that it is not:
I am happily through my surgery for my double mastectomy and sailing along with the reconstruction process! I do hope to have surgery again in the early part of 2015 to replace the expanders in my chest with actual implants and feel a little more like a woman than a bionic woman (with metal ports and inflatable breasts that expand and retract with the insertion of a needle and some saline).
Isabelle has been on an emotional roller coaster with all the family related health issues and surgeries that have happened in our immediate family and extended family. We are starting Isabelle with a therapist who specializes in children and "art" therapy on Monday to help her deal with all of the emotions she has been having related to all of the changes around her world.
Mike has been a rock for all of us! He took time off of work to help me and care for the girls (as I am still on a lifting restriction for quite a while longer). Since I cannot do much, Mike has been on full Emily duty taking the overnight shift as well, so as you can imagine he is exhausted! I could not ask for a better partner in all of this though!!!
And now on to Emily... Emily had been in pain starting around September with her hip, where she began protecting her leg and not relaxing it at all which made it impossible for many of her nursing cares and dressing her. September is a month where we tend to have her 6 month appointments with orthopedics, urology and PM&R (Physical Medicine and Rehabilitation) specialists. These appointments all took place within a week of each other and due to all of the issues related to each doctor's specialty and the fact that Mike was going to be off work while I was recovering from my surgery we got the stars to align to have all of these specialist work on Emily (under anesthesia) to help her feel better. Dr. Koop (Ortho) said that we could buy some time on the much needed bi-lateral hip surgery by doing a steroid injection into Emily's right hip. Dr. Ward (PM&R) said if we did phenol injections into Emily's hamstrings then her muscles would relax and not continue to pull on her hip which we learned is 75% out of the socket at all times. Dr. Vandersteen (urology) said let's try to botox Emily's overactive/neurogenic bladder to all us to cath her (like we already were) without Emily being able to pee on her own in between cathing times. This all took place on October 30th and was completed in just under 2 hours. Emily does not do well with anesthesia, pain meds, botox, or change in general, so the first few weeks were brutal for her. After the botox in her bladder took hold (which was about 2 weeks) things seemed to settle down with Emily from a full body perspective.
Looking at Emily from a neurological perspective seems to be a different story and one that we cannot seem to quite place our finger on. Emily has not been sleeping through the night (shocking - insert sarcasm, but sad). Somehow over the tail end of summer we got at least 2 solid months where Emily would sleep through the night with only a few random nights of her waking up completely. We thought the time had finally come where she would sleep through the night and not require adult intervention. Emily now seems to be having seizure activity in the night that is waking her up and keeping her from falling back to sleep. Also, when Emily gets up for the day she seems to be very lethargic and finally perks up around 10 am only to be followed by agitation. We are not sure if she is having subclinical seizures (ones that we cannot see) or if the nights are taking a hard toll on her, or if the is the "new normal" Emily we are witnessing. Either way, it is incredibly saddening.
We met with the genetic research specialist on Monday and she provided a very detailed description of Emily's genetic mutation. If interested continue reading. :) If not, continue to the next section!
Emily mutation happened right at conception before the zygote was even fully formed and before the fertilized egg implanted in the uterus turning into a embryo. Therefore, there is NO CURE for this. You cannot "fix" or correct DNA after it is formed. However, we are hopeful that in her lifetime we will be able to find medicines to make a band aid for this mutation and take away the seizures and help her have a quality of life like the rest of us. But we are realist here and understand that science in not yet advanced enough to "fix" what is meant to be and "cure" what happened before Emily was even a embryo.
Emily's results were this: the gene where the mutation occurred is at SCN2A it is considered Autosomal dominant - meaning if Emily has children she will have a 50% chance of passing this gene onto one or more of her own children. It is considered Characterized - which simply means this mutation IS associated with epilepsy. Her protein change is a p.G882E and her Nucleotide Change is c.2645G>A - meaning she should have a "G" but instead she has an "A". This alteration results in an amino acid substitution of Glutamic Acid (E) for Glycine (G) at the amino acid position 882. Mike and my blood samples do not show this marker which states Heterozygous meaning it is de novo - not from either parent. Her Alteration is missense which makes the wrong amino acid and changes how protein works at a cellular level.
Emily had other genes that were altered as well, but since either Mike or I had the same genetic markers they are considered benign and not relevant. We had our testing done through Ambry Genetics which does not provide the specific additional mutations. The reason for this is because they are not relevant and it ends up confusing families even more. with computer prediction models (in silico models) Ambry is able to determine that the main cause of all of Emily's issues is the mutation at SCN2A. Other labs like Baylor will lst out all of these additional mutations and it appears that the patient is more complex than the end result of a mutation of SCN2A.
We will also get what is referred to as a secondary findings report for Emily. This will come in the next 1 - 3 months and let us know if she is predisposed to any other medical conditions, cancers, etc. minus anything related to Alzheimer's or dementia. However, the SCN2A gene has been know to cause dementia and also schizophrenia in patients that have those diagnosis and had their exomes tested positive for a SCN2A mutation.
SCN2A web site and support group
In late January we will travel to Detroit Children's Hospital to be a part of a case study for children with specifically an SCN2A mutation diagnosis. Each child (over the age of 2) will have a PET scan and neuro psych work up. We will get a chance to meet (in-person) other families who have children with SCN2A diagnosis. This form of epilepsy is incredibly rare and fall on a full spectrum or severity and symptoms. We are very excited to meet these other families and to be a part of something that can bring hope and answers for the future.
We have also been asked to participate in a case study by a doctor in Germany. I don't believe this case study involves any travel - bummer! There is a German doctor named Wolfe (sp?) who is currently studying 40 children with this mutation already.
Again there is no cure for Emily, but hopefully we can find some common ground and common treatments that may just help or stop her seizures and improve the quality of life for her and all the others with this same mutation.
I was fortunate enough recently to meet with another local mom whose daughter has SCN2A mutation. I also personally know another family in Northern MN whose daughter has the same genetic mutation. These two mom's have been amazing support even though most of it has been through texting, instant messaging or phone calls. :) The mother of the little girl who is most like Emily, is Tracy Umezu and her daughter is Charlotte. Charlotte got a treatment of IV lidocaine (which is commonly used in Europe and Japan for status epilepsy). Charlotte was connected to an EEG when she received this unconventional (in the US) treatment and her EEG turned to almost "normal". We have never in Emily's 9 1/2 years and 30 EEG's EVER seen a "normal" EEG. Charlotte had this treatment administered under very careful watchful eyes in the PICU and eventually transferred to the oral form of lidocaine which is called mexiletine (a cardiac medication). We see Beverly Wical at Gillette and before she would consider this treatment for Emily we needed to have EKG, Echo and Holter monitor tests completed since mexiletine is an Antiarrhythmic drug. If Emily had any unknown arrhythmia this medication could literally stop her heart and kill her. We have received the "all clear" from cardiology to pursue this medication, but I want to do it in the same manner that Charlotte did. So, in December we will discuss this option further with Dr. Wical.
Long winded! Whew the end!
I know I tend to be long winded, but part of why I write these CB updates is also for myself so that I can look back at specific entries and be reminded of what was going on with Emily at certain points in life and while taking certain medications. Thank you all for your continued support!!!! We could not do all of "this" without all of you!
Until next (long winded) time.....