Ehlers-Danlos Syndrome

We went to see a see a genetic specialist on Friday because the orthopedic surgeon that Thomas went to see for his chest wall suspected that some of us had this rare genetic disorder. Unfortunately, Thomas, Amanda, Aaron, and I all seem to have it. Lainie is a bit too young to know for sure. We all need to follow up with a cardiologist so we can have our heart valves looked at to rule out any problems. Thomas will be having his work up first because he has a significant heart murmur. This also helps explain Amanda's scoliosis and Thomas' protruding chest cavity. I copied and pasted some information to help explain this condition.

Ehlers-Danlos Syndrome (EDS) is an inherited disorder that affect connective tissues, primarily skin, joints and blood vessel walls. 

Ehlers-Danlos syndrome, is when a genetic mutation disrupts the production of collagen, the main component of connective tissue. There are several types of Ehlers-Danlos syndrome with varying symptoms, but all types affect the joints, and most affect skin.

Complications of Ehlers-Danlos syndrome limit physical activities. High impact sports should be avoided but some sports such as swimming can actually be beneficial. The syndrome does not affect mental function.

Symptoms vary depending on which type a person has and from person to person even within the same family. The most common forms of Ehlers-Danlos syndrome (EDS Type I and II) which is what we all have, this is a partial list of characteristics. You must exhibit one or more of these traits.

• skin problems soft velvet-like skin
• stretchy, fragile skin that bruises or tears easily
• stretchy rubber band-like skin
• easy or severe bruising
• poor and slow wound healing (usually taking weeks to months to heal)
• scoliosis
• joint problems
• loose unstable joints causing frequent dislocations usually occurring in the shoulders, knees, hips, collar bone or jaw
• double jointed-ness (hyper extensible joints), extreme in some cases (flexible joints that extend beyond the normal range of movement).
• fatigue
• eye problems
• nearsightedness
• loose joints
• highly elastic, velvety skin
• fragile skin that bruises or tears easily
• redundant skin folds, such as on the eyelids
• preterm labor
• abnormal scar formation
• muscle fatigue and pain
• heart valve problems (mitral valve prolapse and aortic root dilation)
• hernia
  
  Ehlers-Danlos syndrome is caused by genetic alterations (mutations), passed on from parent to child, that disrupt the normal production of collagen. Collagen is a fibrous protein that gives strength and elasticity to connective tissues, skin, tendons, ligaments, cartilage, organs, and blood vessel walls. These genetic mutations alter normal enzyme activity, leaving connective tissues weak and unstable.
  
  Most EDS types are passed along in an inheritance pattern called autosomal dominant. This means you need only one copy of the disease-causing mutation, inherited from either parent, to develop signs and symptoms of the disease. If you inherit the mutation, each of your children will have a 50 percent chance of inheriting the mutation from you.

Another Week Down

Alone Time

John and I were able to squeeze a movie and few lunches in this past week. We saw The American with George Clooney. The movie was very slow or maybe we were just extremely tired, but we both fell a sleep a couple different times. 

We stumbled across a restaurant in Dallas, Jen's Cafe and Bakery and they had pretty good food, especially the soup. We also ate at a new restaurant here in Frisco, Good Fella's, the pizza was very good. Lainie wasn't too keen on the owner throwing pizza dough over to her daddy and wanted no part of touching the dough or talking to the owner, so she did her best to hide!

Senior Pictures

Johnathon had his senior pictures taken. They did a few poses of him wearing a suit and a few pictures of him in his cap and gown. He is so proud as he should be! It was really hard for him to do the serious poses because his smile kept popping out. We get to view the pictures in a couple weeks.

Yearbook 

Amanda has been busy with her yearbook class. She is required to attend a lot of the games and school functions to take pictures. I think she may actually like the socializing more than the photography aspect.

Montessori

Lainie had a couple of rough days this week and the teacher had to talk to mommy. She did not want to listen to her teacher or follow directions. She had to sit in the thinking chair a couple of times but by Friday she was back on track!

Fish Oil

Thomas went upstairs and saw that Aaron was in Johnathon's room crying so he asked him what was wrong. Aaron said he ate some poison and was going to die! Thomas asked him why he thought he ate poison and Aaron said he thought he was eating candy but it was actually poison. Thomas asked him to show him what he ate and Aaron said, "there it is." It was the outer part of a gel tablet. Aaron said he put it in his mouth, bit down and the terrible poison shot down his throat and now he thinks he is going to die. Thomas explained it was actually fish oil and he was going to be fine. Mommy had a long talk with Aaron about putting things into his mouth.Needless to say Aaron was quite relieved!

Coffee N Cream 

Timothy seems to really his new job and the owner told me the other day he is up for a promotion very soon. This is the couples 3rd location and they have a few more in progress. They carry some baked items that are made from scratch and offer a full coffee service. Some of the baked items have won some local awards. 

Swimming

Thomas has been very busy with the swimming program at the high school and has his first swim meet is next weekend. I finally found someone to carpool with to help ease up on my afternoon driving. We have a dinner to attend tonight so we can meet all the other families. Thomas' coach said he is doing a great job!

It's been awhile

I have been very busy as usual with all the kids and their activities.

OMAHA

We were able to squeeze a quick trip to Omaha in before the kids went back to school. We spent most of our time with family. I was able to to see Aunt Patti, Jack and Lisa. My little cousin Jack is such a cute little guy with quite the personality. We also spent some time with Lisa, Ian and Brittany.

We made a trip to the Old Market and I had the pleasure of taking the kiddo's on a horse and carriage ride. I wish we would have had an umbrella to shade us from the sun. For a minute I thought we were still in Texas! We also went on a boat ride in Conagra Park and took some pictures of the downtown sky-line.

We went to a small water park and all the kids had a nice time. Lainie wasn't too excited about getting off the rides. She just wanted to stay put and go on them over and over again.  She really wasn't a happy camper most of the trip but we were able to get some wonderful pictures of her crying!  Ian said we should blackmail her with them at a later date....sounds tempting!

We ate at some of our favorite places; Julio's, Big Fred's and of course my favorite fast food Runza which I am still eating since we bought a dozen frozen Runza's to bring home. Yummy!

BACK TO SCHOOL

All the kiddo's are back in school.

Timothy is  back to college. He only has this semester and part of another semester at Collin College and then will be switching over to a University to finish up his degree if he ever selects a major.  I am hoping he will go to UT  Dallas/Plano but it's his decision not mine. Timothy also started a new job at a new local coffee shop and bakery and he seems to like it and is getting pretty good hours.

Johnathon is really enjoying being a senior this year. He has early release all this year which has been nice. He helps me in the afternoon picking Aaron up at school. He gets his senior pictures next week. I can't wait to see the cap and gown pictures! He has worked so hard all these years and has so much to be proud of. Johnathon is still working at Market street in the bakery and really likes it. This will really help him get a few scholarships since he will be attending Culinary Art school.

Thomas loves being in high school! He is taking German for his foreign language and is on the swim team this year. He will be having his first competition in a couple of weeks. He is really doing well in all of his subjects and is taking school very seriously since he wants to get into a good medical school. I am very proud of him!

Amanda really doesn't like school this year. She has been rezoned and split from some of her friends and her best friend moved out of the country over the summer so things have been somewhat of a struggle for her. She does like her teachers and classes and I think things will be better next year. She has a few questionable friends this year and we have had multiple conversations about this. She has been grounded quite a bit over the past couple of months mostly do to her choice of friends. I think she is finally starting to understand.

Aaron really likes his second grade teacher this year but she will be leaving this week and will not be back for a month which is a bummer. She will have a long term sub over the next month. Aaron still sees Miss Kim at the Reading Ranch for tutoring and she has been a life saver for Aaron. She has done a tremendous job helping him and has also boosted his self-esteem. He is a sweet little boy!

Lainie started a private preschool this year and to my surprise loves it!  She looks really cute in her school uniform but mommy already got her dress coded once, well maybe twice. I am still working on all these new school rules. Private schools are a little different than the public schools. Lainie is 99% potty trained. The only time she has an accident is in the car so I have been putting a pull up on for outings because I don't know how many more times the car seat cover can actually be washed! I am not sure why she doesn't tell me when she needs to go when we are in the car. John said she won't graduate high school peeing in the car so I must be patient!

KATHY AND BABY

Kathy and baby Audrey are doing fine. Kathy is very anemic and is now taking an iron supplement along with her vitamin. She goes back to the doctor in a month. The name pick right now is Ella Marie but as we all know this can change.

AMANDA'S BACK

Amanda is having her final fit for her back brace on September 22nd and is still considering having surgery this summer. The surgery is a very long and very complicated procedure. The recovery time is 6 months to year. The doctor still wants Amanda to try the brace because this will help with surgical procedure too.

 JOHN

 John's the same.


This sums up the past few weeks.