Sunday, April 29, 2012

I Have A Special Needs Child

I have a special needs child. I am not ashamed to admit that Wendy is different.

In the book I am reading, My Baby Rides The Short Bus (which is an amazing book, for the most part, written by parents of special children who tell their personal stories), there is a mother who tells about her autistic son. She is in complete denial. She says she contradicts the therapists and doesn't like to have him evaluated. But honestly, no parent wants to hear their child is "not normal" or not developing the way they should be. Trust me, my heart broke when i recieved a copy of Wendy's evaluation. But if you have a special child, then you need to recognize it, learn to understand and accept, move on and get your child the help they need. Having a special child is nothing to be ashamed of. I am damn proud of my beautiful baby girl and every time she accomplishes something new my heart bursts with pride. Wendy was 5 months old before she ever smiled, but when I saw that smile for the first time, I melted.

Today was not the easiest day. Wendy is teething (I can actually feel a tooth on the bottom). Her bag came off today. Her button was leaking and the dressing around it had this disgusting brown, bloody looking stuff on it. And she fought sleep like crazy. For a moment, while I was cutting her colostomy bags, I thought, what would it be like to have a normal child. As soon as I finished with her bags and went and sat next to her, I immediately felt guilty. One look in her beautiful big blue eyes and I knew that she is the perfect baby for me! I couldn't imagine life without colostomy bags, feeding tubes, syringes, and medication. It may not be easy. And it may not be what I imagined when I found out I was pregnant. But I wouldn't have it any other way.

Saturday, April 28, 2012

Little Lady Is Back In Georgia

After a long week of being sick, packing, and having many appointments, Wendy and I are back in Georgia. We are not in our house yet (we are staying with my momand dad for the time being because Zed still has a few days of work and won't be home until next week). I am so glad to be back, but ready to be in my own home already. And I miss Zed. Call me crazy, but even as aggravating as he is, I miss him, and I'm sure Wendy does too.

Fortunately, the rude here wasn't that bad today. We didn't hit any major traffic and Wendy behaved for the most part. She only cried when we hit Athens and then soon after she started fussing she spit up and went back to sleep. About two hours into our ride (it was me, momma, and Wendy) we stopped and at Cracker Brarrel. No joke, at least five people stopped me to tell me how beautiful my child was. And at the time she wasn't hooked up to her feeding pump so I'm pretty sure it wasn't out of pity.

I also wanted to mention that this blog has had almost 14,500 views! Amazing. Wendy has the most amazing family, friends, and supporters in the world! I truly appreciate each and every one of you!

Thursday, April 26, 2012

What Parenting A Special Needs Child Is Really Like

Parenting a disabled child like wearing 6 inch stilettos for the first time. As a first time parent you think you are going to get to learn to walk in kitten heels first. But when you find out your child has a disability, those kitten heels go out the window and you are stuck in shoes with a very high narrow heel. On the outside you look great. One the inside, your feet are aching and you're stressed out because you are certain that when you move you are going to bust your butt.

Do you know that most pediatricians don't want to see a child with a chromosome abnormality? I didn't, until I tried to find a new doctor for Wendy today. Every place I called either didn't accept Tricare or didn't feel comfortable taking on a special needs child. Honestly, who her pediatrician is isn't all that important. For all of her medical problems Wendy will see specialists. So I just need a pediatrician to give Wendy her shots and send referrals. I ended up getting an appointment with Dr. Melissa Martin. I haven't heard much about her, so I don't know if I am going to love or hate her, but then again, other people's opinions don't matter so much because they could have had a very different experience with the same doctor. We go May 8 for Winnie's 6 month shots and at that appointment I will decide if I like the doctor and if I don't, I will go through Tricare and find another one.  Hopefully Dr. Martin will be a nice fit for us though.

I am reading a book called My Baby Rides The Short Bus. It is a book written by parents of special needs children. They talk about the ups and downs of having a child that is "different". They are honest about what you go through. And the book helps me realize that I am not alone and I am not the only mother that has felt alone.  It talks about issues like how we feel every time someone says "special kids get special parents" or "you're so strong for everything you have been through". I am nothing special and I am no stronger than any other mother. When it's your child, you do what you have to. And if it were reversed, and you were walking in my stilettos, you would suck it up and do the same things I do. You would deal with it.

So if you ever want to understand what I go through on a daily basis, you should read that book. You will laugh and cry and get the chance to walk in my shoes.

Wednesday, April 25, 2012

One Day Closer

I am now 3 days away from moving home, but I'm still not completely packed.

Wendy had her last occupational therapy session with Ms. Brenda today. It was bittersweet. I am excited about moving home, but not so happy about leaving all the wonderful people who have been such a huge part of Wendy's journey. I felt the same way when Wendy was discharged from her home health nurse.

Unfortunately, I am still sick. I did take some time and went to get my nails done. They're cute and white! I knew I probably wouldn't have another chance to get my mani and pedi so I went today. I'm so attached to the place I get my nails done that I'm really going to miss it. I've had my nails done in Elberton and it is nowhere near the same quality. Guess I will have to be on the lookout for a new nail salon.

Some good news is I'm pretty sure I've found Winnie a pediatrician! I will post more when I know for certain. Well, I suppose I should try to get some sleep while Wendy is sleeping.

Tuesday, April 24, 2012

Perfectly Imperfect

My life is a jumbled up mess if I ever did see one. I am moving in 4 days. My house is not packed. Wendy has therapy tomorrow. And I am so sick that I cannot sleep. Oh, and since I was so sick we missed Wendy's doctor appointment for her 6 month shots and I have yet to find a pediatrician in Georgia (but hopefully Dr. Aldridge will accept Wendy as a patient; I am calling her again tomorrow).

Today has been long and tough. My mommy left morning. I laid in the bed most of the day. The only thing I got up for was to take care of Wendy. Oh, and I got up to move to the couch and pee a few times. Finally at 5 I drug myself off the couch to cook supper. After eating I put Wendy to bed and Zed went to bed not long after. The one good thing about today? I got an iPad, which I am blogging on right now!

Monday, April 23, 2012

Sick Moms

I've been meaning to write to tell all about the March of Dimes event, but I have been so sick. I'm pretty sure it's my allergies or sinuses. My throat is sore and scratchy, my nose is stuffy, and I have been coughing. Whatever it is, I hope it's not contagious!

I raised $1,220 for the March of Dimes walk in Nashville! That was a huge accomplishment! Several of the girls from the team met yesterday morning in Clarksville so we could all park together. Since I had been by Centennial Park so much (it is right across the street from the Holiday Inn we lived at for 4 weeks) we led the convoy. After getting to the park we all registered and walked around to visit all the tents. Since I raised over $1,000 I was considered a Top Walker and had VIP status. I got a tote bag, a t-shirt, a hat, a pin, and a few more small things. We visited tents for Centennial Women's Hospital (and got shirts there) and Vanderbilt Children's Hospital (momma bought Winnie a pink sock monkey there). There was one tent that I signed a flower from Wendy in honor of all the preemie babies for a memorial garden and I signed the Wall of Wishes. We had lunch and took a team photo, then we left. Yes, we left.

Wendy was starting to break out on her forehead and I'm still not sure what it was from, but she was fussing and the wind was blowing (which is probably why I am sick) so I took her home. It was a good experience and I am looking forward to the walk in Lavonia. I started my own team, Walking for Wendy Lee McLanahan. My team goal is to raise $2,500. I'm pretty sure we can do it!

Well, I would love to keep blogging tonight, but I need to get some sleep. Wendy has her 6 month shots tomorrow and I still have things to pack. 5 days until I'm back in Georgia.

Friday, April 20, 2012

Date Night.

Zed and I went on our first date since Wendy came home from the hospital. My mom kept Wendy at our house while Zed and I went to eat and see a movie. We acted like teenagers. We drove with our windows down and our music blaring. We ate at Sonic. Then we watched The Lucky One (which was a pretty good movie). As fun as it was, I couldn't wait to get back home to Wendy.

On top of having a date today, I also reached my $600 goal for March of Dimes! I even surpassed it. I actually almost doubled it! I have raised $1,170! I am amazed at people's support and encouragement. I never thought I would raise that much. I can't wait to start again for the walk in October. By the way, it's in Lavonia so anyone in the Elberton area, feel free to join us!

Thursday, April 19, 2012

One Amazing Day

Today was pretty darn great, even though Wendy had to have an EEG. We started our day by getting up and getting ready to head to the hospital. We were a few minutes early to Wendy's appointment and Zed wanted ice-cream so he got Ben & Jerry's (which is in the food court at the hospital). I ran to the bathroom while he and Wendy ordered his usual strawberry on a sugar cone. When I got back he gave me these adorable ice-cream cone earrings. He said they were to symbolize our time spent at the hospital because Zed got Ben & Jerry's pretty much every day.

Then we got on the elevators in the doctor's office tower and headed to the 9th floor, to neurology. The lady at the desk checking her in went on and on about how beautiful and sweet Wendy was. She said Wendy had stolen her heart. While we were in the waiting room Zed read Wendy a book about a goose named Posy. Then an adorable blonde girl, who was probably around my age, named Carrie, came out to get us. She was super sweet and a wonderful EEG technician. Miss Carrie was quick to put on the probes and she was really nice to Wendy. She even made a little bow out of gauze to stick on her head. She said Wendy was one of the prettiest babies she had ever seen and she said she has seen her share of babies. She even went to get another nurse to come look at Wendy because she was so cute.

We didn't get any results but Carrie we could call soon and as about them since we weren't seeing a neurologist today and since we are moving soon. I'm pretty sure it came back normal though by the way Carrie was talking. Which means it's most likely not infantile spasms, which means it's not going to need immediate attention, if any attention is needed at all. So I am going to set up an appointment with a neurologist in Georgia, just to have a second opinion and follow up.

On the way out the hospital we stopped at the Friend's Shop and bought Wendy a stuffed owl and a monkey rattle. This was her last trip to Vanderbilt so we wanted to get something for her. And besides, she deserved a gift because she did so well during her EEG.

On the way out of Nashville, Zed and I stopped at PF Chang's to eat. It was cute. We had a little family date. Zed even held my hand during dinner. Then we came home and my mom and Kim were already here. We hung out with them a while and now everyone is in bed (except me). I just finished making out thank you cards for everyone who donated to March of Dimes and I'm finishing up Wendy's poster for her party.

Today has been great. The only thing that could make it better would be for someone to donate $45 to March of Dimes so I could reach my $600 goal. I only have TWO DAYS left until the walk! Well I better go. This mommy has a few more things to do tonight!

Wednesday, April 18, 2012

Awake and Asleep EEG

Tomorrow we take Wendy back for her third EEG. This time they are doing an awake and asleep EEG. They called and told us to wake Wendy up early tomorrow morning and not let her take a nap. The EEG will last 90 minutes. I am not looking forward it. The 20 minute EEG was a nightmare. That times 4 is going to be no good.

That is a link to Vanderbilt's website talking about the EEG. Apparently being sleep deprived can trigger seizures, so that is why they do an awake and asleep EEG.

Please keep us in your prayers. We are hoping for answers soon. I really don't want to move to Georgia still worrying about Wendy having seizures. I will post again as soon as I can.

Monday, April 16, 2012

Walking For Wendy!

I cannot believe it's only 6 days left until the walk! I am getting so excited. I am so glad I decided to participate. At first, I didn't want to sign up because Zed's terminal leave was supposed to start April 20, however, something went wrong, the Army didn't charge him for his summer leave, and so he had time added on. When I found out he wasn't going to be done here until May 3, I decided to do the walk.

My mom and Kim are coming up and they are going to help me with Wendy's going away party, do the March for Babies, and help me finish packing. It was my mom's idea to have shirts made with Wendy's picture on it. She even picked out the photo. She said Wendy looked like an angel because the light was shining down on her. I decided to put "walking for Wendy" on it because it had a nice a ring to it. I also put all of Wendy's stats on the back. Wendy has an adorable onesie that says "I'm a 33 week miracle!" and all of her stats.

I started off with a goal of $200. I reached that one pretty quickly, so I raised it to $300. And now I have reached my goal of $400! Even though I have reached my personal goal, my team still needs $100 to reach our goal of $1500! Most every other team has a big sponsor. We don't. We have all been working hard to get personal donations and I think we have done a fabulous job! Many of us have preemie babies. So we are passionate and willing to put in the work!

Please, I don't want to sound like I'm begging, but I kind of am... Even if it's just a $5 donation, it will help. That will be $5 closer to help saving precious babies like Wendy. I know many of you have not yet met Wendy in person, but she has still touched you or made an impact on your life. There are so many other babies like her (well, not exactly because she has her very own odd genetic make up) who need your help. March of Dimes works to prevent birth defects and premature birth. This organization has saved many lives of tiny babies who otherwise wouldn't have had a chance.

Don't worry, the walk is in 6 days and you will hear no more about donating money. I usually don't push people to try to get money from them. BUt this is something that I truly believe in. If everyone on my friends list would donate $1, I could raise over $800. I really hope this will reach people so we can continue to research and save more lives!

Sunday, April 15, 2012

Beauty, Inside and Out

I love when people say my daughter is beautiful. Not because I'm conceited. Not because I want my child to be the most beautiful. But simply because they're not pointing out her flaws, like every single doctor does.

Wendy, Zed and I attended a birthday party today. So many people there kept telling me how beautiful my baby was. After reading the report from her geneticist, it made me feel good. The report was a copy of what was sent to her pediatrician. It talked about her flat nasal bridge, her small nasal tip, the crevice in her chest, her wide set and inverted nipples, her short stature, her wide set eyes, her small head, and her "big ears that are folded oddly". Yeah, it said all of that.

I understand that my child has a chromosome abnormality. I understand that some of her features are different than most children's. But in all honesty, every child is going to have some odd feature, but it's not pointed out every time they go to a doctor. If a kid has big ears and they go to a check up, they're not going to say "Oh, that baby has big ears, it must be a congenital anomaly." They're most likely going to think it's just a feature that probably runs in the family and it won't be mentioned in a report.

I'm probably being a little sensitive on this subject, but as Wendy's mother, I don't like people saying the way she looks is wrong or abnormal. All I see when I look at her is perfection, and her daddy's features.

Saturday, April 14, 2012

Georgia Baby!

I now have only 2 weeks left living in Kentucky! So in two Saturday's Wendy will be a Georgia baby! I will seriously be so glad to be back home. I'm not a huge fan of Kentucky. I'm glad Wendy was born in Nashville, so when people ask, she can say she was born in Tennessee. She's going to be such a sweet little southern belle.

Talking about "southern belles" I got the invitations ordered for Wendy's going away party. I had created an event on Facebook, but I honestly couldn't stand the thought of not sending out real invites. My mother says I'm too southern. The invitations should be here Monday and I can send them Tuesday. The party is Saturday, so it's a little close to time, but better late than never. They're adorable. They have a hot air balloon and say "oh baby, the places you'll go!". I'm going to try to find the Dr. Seuss book, Oh, The Places You'll Go, and have everyone sign it.

Gosh, I cannot believe how close it is to moving time. Packing is terrible, but Zed has actually been helping some. I am planning on packing everything except my living room (because I don't want the place to look bare when I have Wendy's party). I have so much to do before I leave though. Wendy and I are going to a birthday party tomorrow. She has a doctor's appointment for another EEG on the 19th. On the 21st is her going away party, the 22nd is the March for Babies (don't forget, if you are planing to donate there is only a week left!). Wendy goes for her 6 month shots the 24th and we are moving the 28th. Busy, busy, busy. But I'm very excited. Especially after seeing how great our house looked last weekend. I am so thankful for Zed's dad and all the work he has had done. Zed and I are so lucky. I can't imagine a more perfect place to raise our perfect little girl!

Thursday, April 12, 2012


If you've read my earlier posts, you will know Wendy started having these episodes where her muscles tighten and she holds her breath. We took her to the emergency room yesterday and after explaining to the neurologist what she was doing he was certain it was Infantile Spasms. IS needs to be treated quickly and aggressively so he was already planning on admitting Wendy and ordering the medication. However, when the EEG was done, it came back normal. This can sometimes happen with IS so he wants a repeat EEG done next week. Personally, I hope it's not IS. IS requires a several day stay in the hospital to begin treatment, followed by 6 weeks of steroid shots daily (which we can do at home) but about 80% of infants who has this, ends up with some form of epilepsy later in life. I want answers, and I'm hoping and praying for good ones!

They wanted to keep Wendy overnight for a 24 hour observation. Zed and I told them that unless someone was going to watch her all night, that it was no use because we can't get a nurse quick enough to see her having a spasm. They suggested I try to catch it on my iPhone. At that point Zed said we were going home and we would follow up with neurology whenever they wanted to see her.

Neurology called today and Wendy has to have a repeat EEG done April 19. In the meantime, I decided to do some research because apparently I am going to have to step up and help the doctors, otherwise, my child will never get a diagnosis. I actually found some pretty valuable information on Infantile Spasms on the American Epilepsy Society's website. It states that if the EEG comes back normal that their are two different types of benign seizures that appear clinically similar. One being benign infantile myoclonus, the other, benign familial infantile convulsions.

Benign infantile myoclonus, also known as, benign non-epileptic infantile spasms begin during early infancy and have the clinical features of flexion spasms. This syndrome differs from IS in the absence of mental and psycho-motor involvement as well as having a normal EEG during wakefulness and sleep. These spasms are characterized by a short (2-4 second) tonic contraction, with no significant changes of the EEG concomitant to the spasm. The series of spasms can occur not only during the day, but also during sleep and immediately after awakening. Wendy mostly has these spasms during and right after sleep. From what I understand, treatment is not needed and the child should grow out of it.

The benign infantile convulsions are similar but have a few different characteristics that Wendy does not have.

Zed and I truly believe Wendy is having seizures, which is why I'm doing my own research. The neurologist said that children sometimes make a "funny face" but this is definitely not a funny face. As a parent, you can tell when something is wrong with your child, and these episodes Wendy is having cannot be normal. I would be thrilled if it is the benign infantile myoclonus. That way Wendy won't have to have any extra medications and she will have a diagnosis so I won't be quite so worried.

Please continue to pray until after her next appointment.

Tuesday, April 10, 2012

A Trip To The ER Planned For Tomorrow AM

Yes, I said it. I am planning a trip to the ER at the Children's Hospital. Zed and I are almost 100% positive our baby girl is having seizures. Infantile spasms, to be precise. When she was in the NICU one of her doctors mentioned seizures because Wendy shook her fist rhythmically. An hour long EEG was done and came back fine. However, when we brought her home, she started having these episodes where her muscles tightened, she makes a face, and holds her breath. At first, she only did it when Zed would blow in her face and we thought she was just angry. Last week, she started doing it randomly. This past weekend, she was having 10-20 episodes a day. So when we got home from our trip to Georgia, I started googling (terrible thing, because it's usually bad). But after reading the symptoms I began thinking it really could be seizures. Zed kept telling me he was positive that's what it was. So I got on YouTube and searched. I found several videos of babies having Infantile Spasms and that is exactly what Wendy looks like, except her muscles spasms are worse and her face turns blood red. I had called her pediatrician on the way home today and made an appointment for Thursday (that was the soonest she could be seen) but I decided we are going to take her to the ER and not leave until a neurologist sees her. We are moving in 2 and half weeks and I do not have time to wait for Tricare to get a referral through.

After seeing these videos and realizing that Wendy is most likely having a seizures, I just sat in the bed and cried. I don't understand why my sweet girl is suffering so much. She is so innocent and does not deserve to be in pain. Zed finally told me everything was going to be fine and for me to take Wendy and snuggle with her. So that's what I did. No matter what, I will continue fighting for Wendy. I will do everything I can to make her healthy and give her the best life possible. You never know how much it hurts to see your child sick and not be able to fix it, until it happens to you. I'm thankful that Wendy is so strong and is still here, fighting against so many odds. That baby girl is my hero.

The March of Dimes walk is in 12 days! I have raised $400 for this wonderful cause. If anyone wants to donate in honor of Wendy please go to my website! (Sorry, you'll have to copy and paste it in your browser because I cannot figure how to link a website to my blog!)

Thursday, April 5, 2012

Sick Little Family

Wendy started vomiting last night. She spit up after every single feed. It was projectile, out-of-her-nose vomit. And every time it happened she was gasping for breath, so I would have to suction her nose, which just upset her, which made her cry more, which would make her vomit again. I literally got 2 hours of sleep last night. Those 2 hours I catnapped with Wendy laying on my chest.

Finally at 5 am, I just stopped her feeds. At 8, I called the doctor and they said they could see her at 9:15. I took her in and they looked her over and said she looked and sounded fine (her ears, eyes, nose, and chest) and she didn't seem lethargic. She was kicking around and acting pretty normal. They of course wanted to check her blood and since she has kidney reflux they wanted to check her urine. The heel prick wasn't so terrible. Having to hold her while the nurse inserted the catheter was. Wendy is so tiny so she had a hard time getting it in, especially since Wendy was moving so much. I had to hold her so tightly I was afraid I was hurting her. She was screaming and I know from experience that having a catheter put in can be pretty freaking painful.

After it was all said and done my little hiccup quit crying and went right to sleep Everything came back negative and the doctor determined it was just an intestinal virus, which he says he's seen a lot of recently. I was told to give her Pedialyte for a few feeds and if she held that down okay I could switch her back to formula. So far she's still only had Pedialyte, but I'm planning on trying to give her formula the next time she is fed.

Luckily, Wendy doesn't seem to be feeling as bad as she was last night. Bad news, Zed is even worse than Wendy was last night. He's been vomiting, has a headache, had a nosebleed, and it's scared me to death. Zed is hardly ever sick, so when he is, it's very worrisome. He says he's fine, but seriously, if he's still sick in the morning I'm not going to Georgia unless he sees a doctor. I will make him go to the ER before we leave. I wanted to take him tonight, but he said no because I need to stay here and take care of Wendy and he's right, she doesn't need to be around a ton of really sick people. I just have an awful feeling that I'm going to be next with the stomach bug.

More bad news came from my doctor. She got the results of some bloodwork I had done. My blood glucose level was high, but not high enough to be diagnosed as diabetic. (That was the good news.) The bad news is my ANA titer came back positive, 1:160. Which means it's likely I have an autoimmune disorder and not fibromyalgia. So I have to go back to a rheumatologist. Honestly, I don't have time for this crap. I've got a kid that needs me to take care of her, so for once, I just need to be healthy!

So prayers would be greatly appreciated for my sick little family.

Also, don't forget. The March of Dimes walk is coming up quickly. If you want to donate go to

And if you want to order anything from Scentsy check out
Scentsy products will make wonderful mother's day gifts!

Wednesday, April 4, 2012

A Little Big Brother For Wendy? Maybe In A Few Years.

I love my little girl. And I adore being a mother. That brings me to question whether I want another child. I know Zed doesn't want to risk having another sick child (not because we would love it less, but we know how taxing it is to sit in a hospital for that long with a baby and we don't want to take away from Wendy).

So that brings me to think about PGD, Preimplantation Genetic Diagnosis. It's where you use IVF and test the embryo before it is implanted. In the US it's even legal to look at the sex and only implant the male or female, whichever you prefer. I would love to eventually have a son, that is, if Zed and I are financially able to give 2 children everything they need and as long as Wendy is fairly healthy. If Wendy has many extra needs I will devote my entire being to giving her the care she needs.

I don't even know if Zed would be okay with this. I don't know that he would even want another child. But it's definitely something for us to consider in our future. I'm only 22 and Zed 26. We have plenty of time to see how Wendy progresses and decide if adding to our family is right for us. I am excited about our future. Whether we have more children or not, I am blessed with a wonderful little family. Zed and I are so lucky to have Wendy in our lives and if she ends up being our only little blessing, I'm totally fine with that, but if we decide to expand our family and give our sweet girl a brother or sister, I think that would be wonderful too. But what's so amazing is, we have options and we don't have to make a decision any time soon.

Tuesday, April 3, 2012

Normal, Who Needs It?

Yesterday we were given a lot of information about Wendy's very special genetic makeup. I had had little time to process it when I posted my last blog. I pretty much stated the facts, but did not much else.

Today, I've thought about it. I've talked to my mom about it (and bless it, I think she's more upset than me). I've even e-mailed Janet about it, and I must say, Janet has been one of the biggest blessings since Wendy was born. I know I can always talk to her or ask advice.

But honestly, even after letting it all sink in, I feel no different than I did the day before yesterday. The views on my daughter have not changed. I still love her just as much. I still think she is the most beautiful baby in the world. And I still feel like she is going to be one extraordinary little person. I don't care if she is 4 feet tall and has severe mental delays (which no one even knows how she will turn out), that is still my little girl.

The only conclusion that I have come to, is who the hell wants to be normal anyway? Normal is boring. And so in my opinion, you should be jealous of my extra special little sweetie. She's beautiful, she's tough, and she is one-of-a-kind. This child is absolutely perfect, at least for me and Zed.

Monday, April 2, 2012

Wendy Syndrome

a. 46, XX, der(7)t(7;10)(p22.2;p15.1) de novo
b. nuc ish(DXZ1,RB1,D18Z1,D21S259,D21S341,D21S342)x2
c. arr 7p22.3p22.1(136,363-6,480,604)x1,10p15.3p15.1(128,680-3,820,075)x3

My brain is on overload right now, so I going to try and get this typed out to the best of my abilities.

There are two types of chromosome translocations; balanced and unbalanced. In ideal situations, balanced translocations can be an even exchange, with no missing genes, and fully functional. Unbalanced translocations, like Wendy's, means the material is unequal and either the person will have extra genes or missing genes. Wendy has missing genes.

Once you figure out the chromosome abnormality and break it down, it can be put in a database and compared to similar cases. You can see what problems the missing or extra genes caused for other children. Wendy's case was only comparable to 3 or 4 other cases, however, there were some defects in those children, that we have also noticed on Wendy.

Unfortunately, Wendy seems to have quite a few missing genes. One of the missing genes seems to cause children's nipples to be spaced far apart, and Wendy has that. Another causes the wide nasal bridge. Speech delay, developmental delay/mental retardation, and deafness are associated with several of her deletions. Microcephaly is another common issue with one of her deletions. Partial monosomy 7p is usually associated with heart defects, which luckily, Wendy does not have. And after reviewing Wendy's growth charts and her deleted genes, they said she is likely to be extremely small. How small? We're not sure. Right now she is 21 inches. Her weight is increasing better than her height which means it is not an issue of malnutrition, but rather an issue of her DNA. At 2 years old, if we take her height and double it, that will be a rough estimate of how tall she will be.

After talking to the geneticist, our main concerns should be about her vital organs; heart, kidneys, liver, etc. And other than the mild kidney reflux, her organs are looking okay. Also, her brain growth is another concern. However, short of doing another MRI there is no way to tell how it is developing and without her showing symptoms, there is really no reason to put her under anesthesia to do an MRI. At about 3 years old, the geneticist suggested we do a developmental study on her to see how she is measuring against "normal" children.

So for now, it's all a waiting game. They said that the fact that she was born alive and is doing this well is remarkable seeing how many deletions she has and we will just have to let Wendy show us what she is capable of. We really didn't learn anything new, but we got copies of her specific genetic makeup.

I will probably think of a million more things I forgot to mention in this post, so if I do, I'll post again later, but for now, this is all my brain can comprehend. And trust me, if you saw the paperwork, this would probably be all you retained too.