23andWho???

I was the first in my family to have my DNA tested through 23andMe. I'm sure most of you know what that is but for those who do not, it's a company that will tell you where your ancestors come from, how much percentage you carry of different countries your ancestors hailed from, a timeline of when they first show up, and more importantly to me, are the health reports that they generate. The kit comes with a vial that you spit in, close, shake, and send off to the company.

As I chose to take part in both ancestry as well as health reports it cost $199. If you do ancestry alone it's $99, and they run specials now and then, up to 20% off. It takes about four to six weeks, sometimes sooner to get the results via email.

I always thought I was mostly Italian with perhaps some Norman mixed in as a relative on my Dad's side had completed genealogical research which went back to the 1400's and had something to do with Normans going through Spain and into Italy. The most distinguished DiRosa (originally spelled with an i not e) was a Senator in Naples. If you know anything about Naples during that time period, you know they were pretty much out of control, so I'm not surprised. I mean living on the side of a volcano that can erupt at any moment can make one "carefree." I also suspected there might be a little Genghis Khan in me because my daughter had a little blueish birthmark on her backside when she was born and I read somewhere along the line that mark was present in descendants of Khan.

Here are my results which shows I am mostly Italian, actually 88.5% Southern European and I'm assuming the Broadly Southern European probably is Sicily as that's where all four of my grandparents were born. North African and Middle Eastern make sense too as everybody raided Sicily. I was surprised to see that yes, maybe I am a descendent of Khan as I have .3% Mongolian. I found the Broadly East Asian .1% surprising as well as the unassigned .8%.

Here is my timeline which is very surprising to me.

It makes sense that my Grandparents hailed from Italy between 1870-1930, but there is nothing between the years 1840-1870. My very first ancestor supposedly is Finnish followed by West African. So does that mean a ship left Finland and wound up in West Africa? Did my ancestor have something to do with slavery or did he/she marry an African Queen/King?

The next family member to do 23andMe was my daughter which shows she shares 50% of her DNA with me. I was very curious to have her spit in a bottle because there was some disparity between my husband's relatives as what ancestry they are. Many years ago when my daughter was diagnosed with MHE I tried to find out as much genetic info as I could. Since my husband was adopted and hadn't stayed in touch with his biological father's side, he didn't have any information on them so we turned to his mom. When she said my husband's grandmother on his father's side was Cherokee I was elated as that would mean my daughter was about 25% or 12.5% Cherokee which entitled her to a bevy of free medical treatments for her rare disease. His mom also said his grandfather on her side, her father,  was half-Japanese, which was cool. My husband knew that grandfather very well and said he would never speak of that side. I've seen pics of his grandparents and his grandfather does not look Japanese at all while his grandmother does look German.

Back to the Native American gene...We actually went on a trip to Cherokee, NC to look at the rolls to see if we could verify my husband's heritage. It was a bust, and it was then I decided I needed to reach out to his biological dad's side. His father had already passed many years prior but he still had a brother who I tracked down and sent a letter. To make a long story short they were thrilled I contacted them and were joyful they finally got the opportunity to reconnect with my husband who they hadn't seen since he was 6 years old and only for a moment at 18 at his dad's funeral. Since my contact with them we have become very close and they are truly wonderful people. Anyway back to the heritage. When I told his uncle that I needed some sort of verification about their Cherokee lineage he laughed and said they weren't Cherokee at all. Huh? No, my husband's grandparents were actually Polish!

His uncle was big into genealogy and had reams of pages on their family which first entered America on the Mayflower, the Southwicks, he said. He also said that Teddy and Franklin Roosevelt were distant cousins of my husband. All very interesting but not a Native American among them!

When my daughter's 23andMe results came back it showed she was 98.4% European. She has a percentage of all my ancestors except for Finnish, Middle Eastern, Mongolian, and Broadly Sub-Saharan Africa.  Her majority, not from my side, is Northwestern Europe which included 12.7% British & Irish, 7.5% French & German, and 10.2% Broadly Northeast European which I would assume was Polish. She also showed <.1% Ashkenazi Jewish, and since I had 0% I figured that was from her father's side. What was odd to me was that she had 0% Japanese! The only East Asian she had was .2%, with .1% Yakut.  I had .4% East Asian and 0 Yakut.

When the kids bought their dad a 23andMe kit for Christmas I think I was more excited than he was to find out his ancestry. Well, we got the results last week. Our daughter is his with her carrying 49.9% of his DNA. So where is the other .1%???

Here is a snapshot of some of his results:

As you can see he is listed as 100% European with the majority of his ancestry, 69.2% Northwestern European broken down as 31.8% British & Irish, 15.7% French & German, 1.5% Scandinavian, 20.2% Broadly Northeast European. The rest is Eastern European. Most notable are two things...first, the 0% Ashkenazi Jewish. If I have 0 and he has 0 how does our daughter have <.1% Ashkenazi? Second, no Japanese! How can that be? His mother told him his grandfather was half Japanese. Shouldn't there be at least a small percentage? He was told stories of how his mother, her sisters and his grandmother were almost rounded up and sent to Japanese interment camps even though his "half-Japanese" grandfather worked in the Brooklyn Navy yards during the war. There is even a letter floating around somewhere whereby the government apologized.

According to my husband's timeline either his parent, grandparent or great grandparent was 100% British & Irish and born between 1870 & 1930. He adamantly says this is incorrect. Besides, as we all know no one is really 100% anything!

This is our wall of ancestors...

At the very top is a photo is of my husband's ancestors on his grandfather's side, all Japanese in traditional dress. I do not know the year of this photo.

So, who are these people? Are they not his relatives? Who do we believe? DNA or oral histories? Did 23andMe get it all wrong? And if they got the ancestry side wrong, what about the health reports? How accurate are they? I had hoped this DNA testing would answer some questions, but in fact it's given me even more...23andWho???

Ice, Ice Baby

This is what we woke up to in Roanoke, VA this morning.

Looks so beautiful, so tranquil...yet, in reality...so dangerous, so treacherous.

We were lucky, only the dimming of lights struck, but no major power outage. The cracking of limbs and tree trunks echoed all around us, and I wondered if one of the oak branches would plummet through our sunroom roof.

The majestic hemlock sunk to the ground as if the entire world rested on its shoulders.

I know the feeling. I prayed both hemlock and I would stay strong and bounce right back up without giving in to a break. It's now late afternoon and the tree has lifted. Now it's my time.

Two Weeks After Surgery:

We were able to get the driveway and vehicle clear of ice and transport the weak-from-all-night- nausea patient to the clinic.  I propped her up in a wheel chair in the lobby while I parked the car, and for a moment I felt like we were in the sequel to Weekend at Bernie's. Ginger ale propped in hand, head listing to one side, all she had to do was be coherent enough to get the staples removed from her hip. Nothing was going to stop us from that happening, not even this damn bug that hit first my husband two days ago, and then her about 3:00am. I guess the constant mantra of "she can't get sick, she can't get sick, she can't get sick" did nothing. And I blame myself for this crappy turn of event. You see, had I not taken the couple of efforts towards "giving me a break" by my husband in the caretake of our daughter this weekend, he might not have passed it on to her. I'm sure he didn't realize he was coming down with something, but frankly, he probably wouldn't even admit to not feeling well and besides, he is no Pontius Pilate.

Me, on the other hand, have wrinkles on my fingers. I'm either washing, wiping, spraying, or gelling my hands before I touch anything that the girl will use. I'm a little more stringent right now, but there's not a bag I own that doesn't have at least hand sanitizer and cleansing wipes. I think watching those videos in the hospital really made more aware of how important it is to make sure there are no germs are patients with weakened immune systems and/or surgical wounds.

In any event, the girl is really under the weather, and maybe that was a good thing, yes, a blessing in disguise, if you will. By feeling so miserable, so weak, so "pathetic" (her word, not mine) she was able to endure the removal of "at least" thirty staples from her hip better than had she been perky and aware. Now, that's not to say there wasn't the flinching, ouching, squeezing of hand, while trying to hold back tears of pain, but considering they didn't even numb the area, I think she did damn good, damn good. And now they're out, the wound secured by surge-strips. I haven't looked at it. I just couldn't today. Just hearing the clip of the metal as he built a road map was enough for one day. The surgeon said everything looks good and that's all I need to hear. I did take a gander at the X-ray, before and after shots. Wow. Three long screws (although they looked like nails to me) are holding her leg to the hip. It reminded me of something religious, the way they were thrust in like three daggers in the sacred heart. She's going to definitely set off security alarms.

Now we have to focus on the mend. Once she takes a shower I'm sure that will help psychologically. I bought a slide tub bench which she will need as she has at least six more weeks of being unable to apply any pressure to that leg. You never miss things until you don't use them. Go legs! But right now she has to get some sleep and keep some food down.  And I have to continue to stay well, although she seems to think my catching it is inevitable. We'll see...if I go down, it's not going to be pretty...not as pretty as this shot...

One Week After Surgery

Only she could rock a hospital gown!

It's been a week since my daughter had her surgery to remove what we thought were only two to three osteochondromas from her right hip. She had been in extreme pain for a couple of months, likening it to having a huge rock in your shoe that you couldn't remove. This was the worst pain she had ever felt since it didn't matter what position her body was in...there was no relief. All of her prior surgeries on her leg and finger -- twenty two tumors total removed over three surgeries -- were done at UVA in Charlotesville by a wonderful pediatric surgeon. Unfortunately, since she is now 22 he would not take her case so we were forced to "pick" someone in Roanoke.

When I first met the surgeon from Carillion I thought he was maybe "too young" and worried if he'd be up to the task. My daughter didn't mind his age and felt that maybe that would be a good thing since he probably knew newer techniques. She even stated that folks say she is "too young" to be a news director and she excels at her job. I understood. The surgeon was in no hurry to operate and tried physical therapy first which seemed to exasperate the pain. She underwent the normal routine of tests, x-rays, catscan & contrast MRI.

The MRI showed a potential problem with one of the tumors that we didn't even know was there. Since it "lit up" the MRI it was possible it was cancerous. The surgeon hoped it was just fluid giving us the hot-spot but wouldn't know until he got in there. The plan was to open her up, which entailed an incision from her backside down to the right thigh. Once he looked at it if he thought there was a possibility it was cancer he would take a biopsy and close her right back up. If he thought it wasn't he would continue with the scheduled operation to remove the other tumors. He felt there was also a possibility that she would lose the artery in her leg and perhaps have some nerve damage as the tumors have a way of getting wrapped in them. He would do his best to preserve whatever he could. I found out he was not only an orthopedist specialist, although not really in hips, but in feet, but he also was a trauma surgeon. That is a good thing...that means he works fast and is used to expecting the unexpected.

The check-in at Roanoke Memorial hospital was quite smooth and she was taken back for prep at the exact time she was supposed to. This was a huge difference from prior surgeries at UVA where one time she had to wait seven hours, starving, before she was even taken back. My advice to those getting surgery is to push to have the first of the day. I gave the staff my cell-phone and they used it to call me back into pre-op. When I went back I thought she was all ready and I was just going to say good luck. When I got there she was in tears as there was a problem with her getting an IV. The nurses tried both hands and her arm but it kept failing. They finally got it to stay in the arm but that was after "digging around" a bit. She's just like me...we hate needles. It was a pretty traumatic experience and they gave her something to calm down before wheeling her in. I kissed her and then began praying to Mary and Padre Pio for her.

Ouch!

About forty five minutes later I received a phone call from one of the OR nurses who said they were going ahead with the whole operation. I breathed a sigh of relief as that meant it didn't look like cancer. It was about three hours later before she was in recovery. I was surprised at how aware and awake she already was. My fear is always that she won't come out of anesthesia, or that they give her too much and she suffers brain damage. I always make it a point to speak to the anesthesiologist and tell them they are the most important person on the team. They truly are.

The surgeon came in to brief us on the operation. There were twenty tumors removed. One was as large as a golf ball, another two also big and the other 17 smaller. There were more but he couldn't take out any other as the amount already weakened the bones. So he took the ones he thought would be potential problems down the line. The operation itself entails dislocating the hip (cracking it) and removing the leg from the socket. He then scapelled and scraped the offenders. He replaced the leg into the socket and used screws to hold it in place. He was able to work around the artery so she didn't lose it. He stressed that the hip and leg are extremely weak now and although he thought recovery originally might be around 8 weeks he upped it to 12. There could be no pressure whatsoever on that right leg. It was a total hip impingement operation meaning no weight at all, no crossing ankles, no movement. She could not move more than 90 degrees from the waist meaning no bending, etc. She would need home care physical therapy. I would be her right leg.

She was brought into a room quickly which also impressed me. The nursing staff was great, except for one or two night ones. Nobody was familiar with her condition and I guess they thought it odd such a young lady had "hip problems." The first night was spent in bed and they put her on a regular diet. I was really impressed by a young man she had begun dating two weeks before surgery. Unfortunately, most of the dopes she's dated before him have made her feel like a freak regarding her condition. They tore her apart and her self-esteem was null. This boy seems to be the opposite. He builds her up. He even stayed the entire night with her in the hospital, sleeping in a chair! He's been a God send and I really hope he's the real deal.

Love heals

The very next morning physical therapy had her up and trying to walk. She cannot use a wheelchair so she has a walker. She has to lift her body up, use her left foot to move forward while slowly positioning the right one. It's very taxing on someone who has no upper body strength, but by the time she recovers she will. She walked all the way down to the nurses station.

She still kept her sense of humor while struggling with pain.

I knew she was feeling better when she started complaining about the disgusting hospital food. She stayed another night as did her boyfriend. She got the okay to leave on Wednesday morning after meeting with the doctors and therapist who gave her devices, such as a grasping hook (look I'm Buster from Arrested Development!) a sock device (not gonna happen...I'll put her socks on) a long shoe-horn (shoes? Ha!) and a sponge on a stick (counting down the days to a real shower), to make her daily living easier.

Just getting her into the car was an experience. Of course there was a torrential downpour and I had to navigate through flooded roads and try to miss bumps and holes in the road. Boy was I thankful the hospital was only fifteen minutes from home instead of three hours!

There are so many things one takes for granted until one finds themselves in a position where they're no longer able to do them by themselves. My lower back is killing me from being bent over a good part of the day to help that leg/foot along. She cannot dress herself, go to the bathroom herself, get out of bed herself, sit in a recliner herself. This is so frustrating for someone who is used to not depending upon anyone and is a firecracker constantly spinning in her previous life. My stupid pain is nothing compared to the pain she is experiencing and I feel guilty even mentioning mine!

One of the biggest challenges was keeping Bella away from her. The "normal" routine is Bella wakes the girl up every day and then snuggles in bed with her. Fearing she will crack the hip when she jumps, she has been barred from going near the girl. I hold Bella in my arms and bring her to my daughter so she could give her kisses. I've had to position the walker and crutches (which she doesn't use but they make a good guard) where my daughter is to keep Bella away from her. I keep telling her, no, no baby, she has a boo-boo, and I think the dog finally gets it. My daughter cannot wait to pick that baby up and snuggle.

The first day home the girl did get a message that one of the news casts she directed has been nominated for an Emmy. She directed that show a couple of months ago while sitting on a pile of pillows in the studio as she was in extreme agony. We both cried tears of joy at the news...21 years old and her show was nominated! How cool is that? Well, it was a mixed blessing because she already misses going to work. In fact, I just had to stop writing this post because I heard something tumble down in her room and found her in tears. She hates being bed-ridden. She's frustrated and upset. She hates calling on me constantly. She feels as if she's a burden. Of course she's not. We had a long talk and I said the tears are good to get out, just let them flow. I also told her this is only temporary. Every day she will feel better. I don't mind helping her. That's what moms do. Nothing else matters, except for her. Heck, I even got over my fear of needles as I have to inject her daily to prevent blood clots.

Almost one week later. The incision goes up her backside. The leg is swollen and the black and blue nasty. There is also yellow bruising that you cannot see in the pic.

When she cries she feels useless I remind her to be thankful all the tumors came back from the pathology lab as being benign. I remind her how much she has already accomplished in her life. I remind her there is a reason she has endured this suffering her whole life and when she feels up to it she should begin to write about it. I remind her there are others out there who feel hopeless and she can be the beacon of hope to them all...an inspiration not to give up. She will overcome this and she will find her calling. Of this I'm sure. For now she needs patience..and some visitors wouldn't be a bad thing either.

Found the perfect chaise recliner that doesn't rock and she found the perfect guy  who does rock.

Face of a Chronic Illness

I'd like to share this Facebook post from my daughter...for anyone who has, or cares for someone with a chronic illness, you may relate.

This is what someone looks like living life with a chronic illness. Chronic illnesses are conditions or diseases that can be neither prevented, nor generally ever cured. Many chronic illnesses are invisible disabilities, meaning they are conditions that create significant challenges in daily every day life, but are not easily apparent and sometimes not even seen to anyone on the outside.

My parents told me when I was two years old I fell off the bed. They felt a bump on my leg afterwards, and brought me to the doctor. It was then when I was diagnosed with Multiple Heredity Exostoses. MHE is a rare, chronic, painful disease that is characterized by benign bone tumors. It’s generally hereditary, as the name states, however in my case, it is an even rarer mutation as I’m the first generation to have it. I can’t remember a time I HAVEN’T BEEN in pain. You can’t tell by this picture, as this was taken after I had 22 tumors removed from my body, 21 from my legs and 1 from my hand, but it’s a deforming condition as well. Growing up, I used to have golf balls sticking out of my knees. I was an extremely fragile child: if I were hit hard enough (as in falling or running into the metal rods on the play ground) I’d get another tumor on the impact site. If I tried to run in gym or on the playground, muscles, tendons, and nerves would get stuck on the tumors in my knees. My legs would lock until the tissue was unstuck. I would have to basically pull the muscle off of it myself. I was so fragile that the other kids were scared of me. I remember when I told my “best friend” in fourth grade that the reason I couldn’t take PE was because I had tumors, she screamed “Ew get your cancer away from me!”, in front of the whole class. I was basically ostracized during my entire school years.

I could never understand why people are so hard on people with chronic illnesses, but then I thought maybe it’s because they simply just don’t know someone is suffering in silence. The best compliment someone can give me has nothing to do with my appearance, but that they didn’t know I had anything wrong with me. People who go through life living with a chronic illness have a double life. They have the life they want people to see, the life that’s going through the motions of daily normal life—going to work, having a social life, a façade really. The real life is the one they don’t want people to know—the struggle to get out of bed, the amount of sheer determination it takes to go through a full day of work. The constant inner pep talks, inner monologues about different motivations to keep going. The guilt of cancelling plans last minute because your body can’t handle anymore, and then the shame of just stopping making plans overall because you know you’ll have to cancel anyway, your body just can’t handle anything more. The constant worry that you’re keeping your chin up high and your voice strong and clear when you just get back bad test results. Those living with chronic conditions have become so accustomed to living the double life that it appears to the world as one, leading to the ignorance aforementioned: they just can’t tell. 

For me personally, the fact that I can go to work is a blessing and nothing I would take for granted. I have over 100 tumors through out my body; I do not have to work a day in my life. I could collect a check and never have to get off the couch to earn it. I don’t have to work, but I want to. That’s why for me, the most hurtful thing someone can do is imply that I’m lazy. The things “normal” people see as a chore, I—along with many others going through life with a chronic illness—see as a privilege. I’m on deck for my fourth surgery and the most upsetting part about that isn’t the amount of work that needs to be done, reconstructive, and tumor removal. It’s the post op recovery that upsets me most, because I will be forced to stay home and miss work.

I only write this to offer perspective. I don’t write this for your sympathy and pity. My ultimate goal in life is to be “important enough” that people will care. Don’t get me wrong, I know people care, but I’d like to be the person a little girl with bumps all over her body can look to and know she can do what ever she puts her mind to, no matter what the bullies and doctors say. I’d like to be the person a worried mother can look to and know MHE, and ANY disabling illness, is not a death sentence, and will not stop their child from living a happy and fulfilled life. I’d like to be the inspiration that I never had, and that can only be achieved by me opening up and telling my story.

Marie