A Rose And A Star

ONLINE SCENTSY PARTY

2011-09-15T10:14:00.000-07:00

If you have not checked out Scentsy! DO! Trust me you will LOVE it. I am doing an ONLINE catalog party. Trying to earn some extra funds for upcoming hospital stay and earn a FREE vacation with Scentsy to the Domincan Republic in 2012. Please let me share Scentsy with you.

Just go to my scentsy page www.scentsy.com/tanyamaynard , click on Tanya Online Party, shop and place an order. The orders will be shipped directly to you.

Warmer of the Month is Maize you get 10% off
Scent of the Month is Pumpkin Marshmellow you get 10% off
Charity of the season is Ronald McDonald house when you purchase Sasha the Scentsy BEar Buddy.

For those of you new to scentsy or who live far away let me know if you would also like to Host an online Scentsy party for yourself. You would earn free scentsy and receive a free thank you gift from me.

Thanks in advance for making my online Scentsy party a success!!!

Worlds Worst Blogger

2011-08-24T11:09:00.000-07:00

I am the worlds worst blogger! Yes you have found me I am the worst. I have so much to blog about but I never do it or never keep up with it. I am so thrilled though that my blog has found people going through similar struggles. I am comforted at knowing that my tough experience and sharing it has helped others. It brings a little peace to me. A lot of what SHOULD be on my blog is on Makenna's Caringbridge and there is just no way I am going to copy and paste ALL those entries. NO WAY. So go over to caring bridge read and catch up and then hopefully this worlds worst blogger will pick up the slack and start blogging.
http://www.caringbridge.org/visit/makennamaynard

Trach Free.... Not Yet

2011-05-13T12:35:00.001-07:00

Trach decan postponed due to lots of stridor over night. Makenna has a high pitched stridor with lots of chest pulling when she falls into a deep sleep. This is a sign that there is something not right with her upper airway. She still had some minor swelling from surgery the other day but the Dr. Did not think the was the direct issue.

The plan is to schedule a sleep study two weeks from now and to have it done with the fenestrated trach capped off so she has to use her airway. We are hoping this will give us a clearer picture of what is going on with her airway in her sleep. The good news is she did VERY well awake with her trach capped. Dr. seems to think her problems are low tone and small jaw when she falls asleep and when she gets really relaxed her tongue falls back into her airway. Possible solution, jaw (mandibular) distraction. This is a major surgery so we are not jumping on the decision right away. We want to be sure that this is exactly the issue before we do anything.

I am extremely bummed about all of this. I was hoping just once that something would go easy for Makenna. I also am at the point where I want to see the trach gone. We are not at the point where the Dr. is going to say she needs the trach forever but being that it is upper airway issues it is not going to be an easy road to get trach free. I also have to prepare myself for the possibility of it never coming out. As much as I prepare myself for news like that it will still be a horrid day a day just as bad a the day we got her chromosome deletion diagnosed. I have my down days but I will not let this ruin me. I have to appreciate the fact that the trach as enabled me to do sooo much with Makenna. The trach has given Makenna life and days filled with fun and laughter. Still though I can never see myself able to stop wondering what it would be like without it in our lives.

Right now Makenna is having an overnight EEG performed. It is looking for electrical seizures basically seizures that happen internally with no eternal evidence. These seizures affect language development and other developmental milestones.

The good news for the day would be her skin biopsy results came back negative for pyruvate mitochondrial disorder. Yay! That is super good news but somewhat shadowed by the unsuccessful trach removal. Oh and Makenna is a whole 16 lbs now. Hardest 16 lbs I have ever seen anyone gain.

More news to come soon I am sure. Thanks for the support and following of Miss Makenna. I am sure she appreciates it more then we know.

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Trach Free... Maybe

2011-05-12T12:38:00.000-07:00

Big News. Yesterday we checked in to Dartmouth at an attempt to decannulate Makenna's trach. She had surgery yesterday to remove scar tissue from her airway and then was moved to PICU to rest and recover for the night. This morning we moved to step 2 of 3 in the trach decannulation process which is a fenestrated trach capped off so she has to use her upper airway to breathe. So far so good with this step. She will remain this way for 24 hours and if all goes well we will attempt decannulation tomorrow morning.

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Trying and Terrible Twos

2011-04-20T20:53:00.001-07:00

This past week and a half to put it nicely has been a bit trying and I am going to blame it all on the trying and terrible twos. My daughter Makenna is 27 months (two and a litttle bit) and the TWO is really starting to show. I am going to complain like the typical parent to a typical child.... Well because I can! I am grateful though because in some way this stage in her life is a gift. When we received her diagnose back when she was born we were told she would not do much. What does that really mean now?!? Anyhow... Back to me complaining.. I think I am complaining because it is my way to brag about how well she is REALLY doing. I mean I had myself convinced early on that she would not reach developmental milestones or it would take much much longer. Let me just say the twos came on time.

Makenna hayes the word no. I mean really HATES it. She knows no and she knows no means no. Her face crinkles in anger and she throws herself to the floor in frustration every time I say no and really I must say it over a hundred times a day. She is into everything. For the most part she listens but it takes persistence on my end and persistence is very time consuming.

Two is the year of exploring and testing and that she is doing. She climbs on everything, sneaks into spaces I wouldn't think she would go, opens everything, tests boundaries and authority. I am tired just reflecting on this. Really though I am happy too! This is fabulous.

I have to say that at least her temper tantrums are some what silenced do to the trach. Oh gosh, I am horrible for saying that. It is true and I am kidding though the silence is a luxury I would rather live without. It may be coming soon. Possible trach removal is scheduled for May 11th of this year!

I am am pretty much rambling at this point. Makenna has figured out how to block her trach with her pointer finger to make noise. It is adorable and she can actually make some pretty loud and lengthy noise.

To sum things up. I am happy and tired, thrilled and overwhelmed that my little Makenna is showing me she is cable of being a trying and terrible two year old. I LOVE HER TO PIECES!!!

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Makenna Spring Photos

2011-04-09T07:48:00.001-07:00

Now that Makenna is in her two's and very opinionated, it is very hard to capture pictures of her the way I would like. This is the best I could do without frustrating myself and causing a huge temper from her. Sigh....

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Little Wonders

2011-04-05T09:06:00.001-07:00

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Memories are Sweet

2011-04-05T07:08:00.001-07:00

Being a parent is truly one of life's best gifts. I am very fortunate to have two beautiful girls who are truly very unique from one another. My Makenna needs me in ways Estella never will but my love is not different for them because of that. This sort of unconditional love is rare and precious. I recognize and embrace it. This love is rare and these memories are sweet.

To Estella,
You may see mommy go to Makenna needs before you. It is because her need for me is greater. I see you smile and coo at her anyways and I know you already understand why. I know you get it and I know when you are older and able you will be right there with me to help her too. Your patient and kind demeanor was just what our family needed to complete us. This collage is to remind you to cherish all that life brings.
Love, Mommy

****photos and photo collage taken and made with my iPhone 4

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Spring Photos of Estella

2011-04-04T07:12:00.001-07:00

I took all of these at home with my iPhone 4.

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PSA 1 for CDO

2011-04-03T16:16:00.000-07:00

Sign Language

2011-03-31T15:05:00.000-07:00

I love to sign and I am intrigued by the beauty of the language. I have been drawn to it ever since I have seen the benefits of using it with Makenna. I wish I knew more...NO I wish I was fluent. I am not kidding. I want to be fluent, I want to teach it and I want to advocate the benefits of it. So what is a girl to do when she feels so strongly about something? Tackle it, right.

I have looked into educating myself at Signing Online
It is affordable, check. It is flexible, check. AND...I can apply it to becoming a certified master instructor for Signing Time
The focus of a Master Signing Time (MST) Instructor is to introduce Signing Time and ASL vocabulary to children (all ages) and adults that are interested in learning signs for any reason – pre-verbal communication, non-verbal communication, second language, etc.

So what am I waiting for, what am I scared of, what is holding me back?

The Special Mother By Erma Bomback. A Thank You By ME

2011-03-30T19:52:00.000-07:00

Most women become mothers by accident, some by choice, a few by social pressures and a couple by habit.
This year nearly 100,000 women will become mothers of handicapped children. Did you ever wonder how mothers of handicapped children are chosen?

Somehow I visualize God hovering over earth selecting his instruments for propagation with great care and deliberation. As He observes, He instructs His angels to make notes in a giant ledger.

Finally He passes a name to an angel and smiles, "Give her a handicapped child."

The angel is curious. "Why this one God? She's so happy."

"Exactly," smiles God, "Could I give a handicapped child to a mother who does not know laughter? That would be cruel."

"But has she patience?" asks the angel.

"I don't want her to have too much patience or she will drown in a sea of self-pity and despair. Once the shock and resentment wears off, she'll handle it."

"I watched her today. She has that feeling of self and independence that is so rare and so necessary in a mother. You see, the child I'm going to give her has her own world. She has to make her live in her world and that's not going to be easy."

"But, Lord, I don't think she even believes in you." God smiles, "No matter, I can fix that. This one is perfect - she has just enough selfishness." The angel gasps - "selfishness? is that a virtue?"

God nods. "If she can't separate herself from the child occasionally, she'll never survive. Yes, here is a woman whom I will bless with a child less than perfect. She doesn't realize it yet, but she is to be envied. She will never take for granted a 'spoken word'". She will never consider a "step" ordinary. When her child says 'Momma' for the first time, she will be present at a miracle, and will know it!"

"I will permit her to see clearly the things I see...ignorance, cruelty, prejudice....and allow her to rise above them. She will never be alone. I will be at her side every minute of every day of her life, because she is doing My work as surely as if she is here by My side".

"And what about her Patron saint?" asks the angel, his pen poised in mid-air.

God smiles, "A mirror will suffice."

Thank you for choosing me. At first I didn't understand and I asked why, I now know why. I was given a blessing, a miracle and a rare opportunity to learn and love on a deeper level. I am a better person now because of her.

There is something about those 4Quties

2011-03-30T19:39:00.000-07:00

My Makenna is just doing things I could have never imagined her doing 2 years ago. 2 years ago everything was negative and there seemed to be little hope and little information on what to expect from her. It was a prepare for the worst situation. She was diagnosed with a Chromosome Disorder and not much information was available to me at the time. 4q deletion. 4q21.23-q23. To be honest, I was devastated and really, who wouldn't be?

Today, Makenna lights up my world EVERYDAY. She is so determined to conquer the world. She has such a strong, outgoing personality and I believe it has worked well for her. Many people are just drawn to her. There is something about Makenna...well actually there is something about 4Quties!!! There really is!

They are small, petite packages with BIG personality. They have a smile that is contagious. A laugh that is heart warming. For the most part they are full of charm and manipulation. Makenna knows how to play people well. HAHA!

I guess my point in this post is to shed light and hope to those just receiving this diagnoses. Yes, chromosome disorders suck but look to the positive side of it and you will find so much JOY. I have, and I wouldn't change a thing.

MAKENNA UPDATE: Makenna is 2 years 3 months old. She weighs 14 lbs and is 29 in long. She still sports her trach Shiley 3.5 Neo but we are scheduled for possible trach removal in May 2011. She has also switch from a mic-key button to a Mini button. We love it! If you need to know more, ask away!

Wordless Wednesday

2011-03-30T19:06:00.000-07:00

Wordless Wednesday

2011-03-22T18:14:00.000-07:00

Tough Start to A Tough Week

2011-03-21T14:30:00.000-07:00

Horrible morning on top of little to no sleep last night. Literally a gazillion doctor calls this morning for my week full of appointments for makenna. Loads of suctioning last night and this morning and to top it off makenna's gtube feed exploded everywhere and the gtube clogged!

Really dreading this week mainly for Makenna's sake but it is going to exhaust me as well.It starts tomorrow... 2 Doctors tomorrow, 1 wednesday overnight up in Dartmouth, Surgery and hearing test Thursday....yuck.

I just have to keep going and keep telling my self, "you can do this."

Wordless Wednesday

2011-03-16T18:58:00.000-07:00

How can I not add words. I look up to Makenna...
to be happy in any situation.

She is my little hero.

My Estella Rae is growing up so fast.

My Blog With A Purpose

2011-03-01T06:11:00.000-08:00

I have not blogged in awhile. I have had a lot going on and I really needed to think about what purpose my blog really had to me. I have settled into being a mom of two now and love it. I want this blog to be about the girls but its main and true purpose is reaching out to others. If you don't know you know now that my first daughter Makenna has a chromosome deletion. 4q21.23-q23. Her diagnoses has changed my life in ways I could have never imagined. As devastating as it once was I can honestly admit my life changes have been for the better.

She has given me ambition, drive, fight, love, knowledge and joy.

I have recently discovered that my blog has been connecting me to people that would have never discovered me without it. These people are MILES away from me but are so close to my heart as they are experiencing the life change of having a child with 4q deletion as well. I feel a special connection to them and take comfort in knowing I can be a resource fro them in any way they need me. So I am purposely directing this blog to be focused on 4q deletions and reaching out to others who may need a helping a hand, a shoulder to lean on or a listening ear from a person who TRULY gets it and is lives it everyday.

Wordless Wednesday

2010-09-29T13:08:00.000-07:00

Tinkerbell for Halloween

2010-09-29T07:11:00.000-07:00

So I wanted to do a quick post about Makenna's costume of choice for Halloween. She picked it out herself! It is so cute on her I couldn't resist and had to go get a fairytale photoshoot done of her in it. The picture is priceless! ENJOY!

Wordless Wednesday

2010-09-15T06:04:00.000-07:00

Wow I was Thin - Prom 2004

A Favorite Photo - Prom 2004

The Annalee Store Can Be Fun!

2010-09-13T12:01:00.000-07:00

I took Makenna to the Annalee Store this weekend. I wanted to get some cute decorations for Halloween, Christmas and then Easter. What is cuter then some Annalee creatures decorated up for each holiday. NOTHING! I just love them. The store had some over sized Annalee's displayed for some photo opportunities to which I took advantage of.

Here are two of my favorites!

Here are two of the Easter ones I purchased. I fell in love with the ducks!

A lot of the ones I purchased were from last years collection so I got 40% off of them.

Have you ever heard of Annalee?

If not you definitely need to check them out http://www.annalee.com/

A Quote to Think About

2010-09-10T09:33:00.000-07:00

"No one can depress you.
No one can make you anxious.
No one can hurt your feelings.
No one can make you anything other than what you allow inside"

by Dr. Wayne W. Dyer

Some pictures that make me happy.

My horse Missy and I.

Nursery In Progress

2010-09-08T12:41:00.000-07:00

The theme is a Starry Night by Van Gough.

Something I hope to do in my life.

2010-09-08T12:37:00.000-07:00

This one is simple. I hope to be the best mother I can possibly be. I hope to make Makenna's life simpler in anyway I can. I hope to inspire others in one way or another. I hope to make a difference in others lives.

Something I have to forgive myself for.

2010-08-26T06:32:00.000-07:00

I have to forgive myself for feeling guilty...I am not guilty for the way you are. Guilt was my first feeling when I learned there was something wrong with my daughter Makenna. I couldn't help but think it was something I did. Wait...I did everything right. I followed the pregnancy manual and doctors orders precisely. But the guilt was still there. I guess you can't help but feel this way at first after carrying your child for nine months and enduring 3 months in the NICU. I have to forgive myself and I have for the most part, I REALLY HAVE. Occasionally guilt comes back though. It comes back when she has to endure another painful procedure, it comes back when she is having a rough day, it comes back when I watch her struggle daily to achieve milestones that should be easy..... its just hard not to feel guilty. I can tell myself over and over again that this is not my fault and that I am doing all I can do for her but its just hard sometimes....

She is a fighter and she is strong. She is here for a reason and it is not for me to feel guilty, she is here to teach me what life is about and I can say without a doubt she is the best teacher I have ever had.

Something I love about myself.

2010-08-25T02:42:00.000-07:00

I love that I am truly able to love deeper then I ever thought I could. I could always love...but I am talking something different. Makenna taught me that I am capable of this.

When I was going through my nightmare of a pregnancy I remember thinking to myself that I was not capable of taking care of a child with special needs. I didn't think I was capable or willing, YES this is the truth. But then she arrived and looked at me and proved me totally wrong. I surprised myself, what I was able to endure and how I was able to love was amazing really. I accepted ALL of what came with Makenna and it has become my mission to love and protect her through EVERYTHING.

She has brought out some of my best qualities...ones that were hiding inside of me waiting for a reason to come out and shine. I love her, I love life and I love that I am able to love through anything.

I Did It Myself!

2010-08-23T11:44:00.000-07:00

Yes that is right! I did it myself and I am so proud. I made my own button. If you think I am going to turn out to be a great blogger one day please GRAB MY BUTTON! If you do let me know so I can follow you and grab yours too!!!!!

I AM SO EXCITED!

 <a border="0" href="http://aroseandastar.blogspot.com/" target="_blank"><img src="http://i790.photobucket.com/albums/yy190/tanyamaynard/button.png" /></a> 

2010-08-23T06:51:00.000-07:00

Just back from a LONG two days up at Dartmouth and a week long visit at my moms. Hence the reason I haven't been blogging daily. My mom went along to help me out and we stayed over at the Residence Inn. David's House was FULL. We had a good time but I am exhausted now.

On the first day Makenna needed to get an ultrasound of her kidneys done. She was such a little trooper and participated well for the ultrasound tech. Then it was the kidney Dr. follow up appointment. Dartmouth was kind enough to squeeze me in early for the ultrasound and early for the follow up so we got finished pretty early in the day. For the most part everything looks good with her kidneys. Her left kidney is abnormally shaped but seems to function normally. Anyways because it is not shaped like it should be we need to be on the lookout for signs and symptoms of kidney related issues. The Dr. said blood pressure would be the first sign so we need to keep an eye on that AT LEAST twice a year. We also need to check in yearly with the kidney Dr. for Urine proteins and Blood proteins as these could also indicate a problem occurring. Ultrasounds will be done every two years. Well thats that for the first day.

Second day started out early with an EEG. FUN FUN!!! We had to keep Makenna up late the night before and wake up EARLY the day of in hopes that she would be tired and fall asleep for the EEG. It worked, thank goodness. Results came back normal! Check! Then it was off to the nutritionist to see how weight gain and feeding were going. I had actually change the entire feeding schedule two weeks prior to this visit and I wasn't sure what they would think of it.

Let's back up to why I had to change things..... Basically at night I had Makenna tied down in a thing called the "Nap Nanny" so that she would be elevated during her night time pump feedings and so I didn't have to worry about her rolling around and pulling it out. Well now Miss Makenna is SUPER strong haha and she can actually get herself out of the nap nanny which is not good! I was bummed becuase I loved the nap nanny and it was a routine that seemed to be working and I HATE changing things up. Well I didn't have a choice Miss Makenna is sitting up from laying down and moving all over the place, basically giving me a run for my money!! I had to remove the nap nanny from her crib (which I know is not even recommended to have in her crib) and lower the mattress to the lowest setting. I then went out and bought those really nice mesh breathable bumpers to keep her from get tangled in the bars. She basically moved up in the world to what I like to call a BIG girl crib! Anyhow, I do not feel comfortable doing overnight feeds with her lying flat and able to move anywhere she would like. I stopped them. That meant I had to figure out a way to get 300 extra calories into her during the day. That is not an easy thing BUT I DID IT!!! and.....IT WORKS. The nutritionist was shocked and said she couldn't have done it better herself. YUP, I am that good. LOL. Anyways my new feeding schedule is working so well that Makenna's weight gain per day has double from 3 grams to 7.2 grams which is now right on target for a kid her age. YES!!!! Can you tell how proud I am yet? She finally has a growth curve again.

Next was her appointment with the metabolic specialist. Everything is looking good. Supplements are working (She is currently on L-Carnitine, Alpha Lipoic Acid and DHA Supplment) and I am so excited about it! We head back up to Dartmouth for them to take a skin biopsy from her to test for a mitochondrial issue. I won't go into to much detail about that unless a diagnoses is confirmed. Basically just another SUPER RARE thing.

So I am super tired from it all and it doesn't help being 27 weeks pregnant and hormonal but I am also super happy from our 2 day visit.

She Needs a Silver and Gold Spoon

2010-08-13T16:51:00.001-07:00

I have struggled since day one to get Makenna to eat. I can come up with many reasaons why she won't too. She has no desire, she doesn't like what I am offering, she doesn't like the texture, she got scared because she gagged, she wants to do it herself and the reasons could just keep going and going.

At one point I DID have her eating by mouth and she was so amazing but then came a weight gain issue, well actually that existed before the fact. She has ALWAYS had a weight gain issue. I believe most of it is attributed to her chromosome deletion. Anyways, she was eating at one point but then doctors and other specialist decided that the focuse needed to be switched to growth. We put her on Peptimen Jr which is a special high calorie formula aimed for kids like Makenna. I was to feed by gtube as she has never had a suck swallow coordiantion to drink all the required volume she needs. I was also expected to still offer her food by mouth.... Haha the kid is stuffed from all the gtube feedings thay have me doing why in the world would she want to eat. So to say the least it has been a trying and stressful subject. It sucks to be stuffing your kid with food by gtube and having her not gain the expected amount of weight and then to be constantly questioned by people if I am feeding enough. I AM. If I fed her anymore she would vomit or pop.

Ok so I have taken matters back into my own hands. I have made a new schedule for feeding and so far it is working great. She has gained 8oz in a week and a half which is Huge for her.

Which leads to today. She was looking at me like she wanted to eat!!! Wooohoo. I am away at my parents for a week visit so all I had for spoons were these little silver and gold ones my mom had bought for gifts with jelly. They are really adorable. They were small so I said perfect I will use one of those. Makenna actually ate from it. WHAT A PRINCESS!! There was no fighting or refusing from her she was a perfect angel. So I guess to solve my problems...she needs silver and gold fancy spoons!!!!

Here is the fancy silver and gold spoon

A Journey Back 18 Months

2010-08-11T07:22:00.000-07:00

I found a blog that touched my heart. It touched me because I share all the same feelings and thoughts about my daughter as she does about hers. The blog is Falling for Baby . Reading through her archives get me thinking back 18 months. It was back then when things seemed impossible and everyday was a battle.

Let's go back....

I knew I was having a baby that would end up in the NICU, that was a given. My pregnancy was not glamorous by any means the experience was HELL. At 20 weeks pregnant things went from everything is fine to specialist appoints, tests, more specialist appointments, bed rest and crying everyday.

I was told so many horrible things about my unborn baby. There is something wrong with her heart, you need to have a second level ultrasound done. Well the heart is off axis but it seems to be functioning right. There is something not quite right with her diaphragm. Next was, She could have a diaphragmatic hernia. What is that I said....? They then informed me that it was a hole in her diaphragm that allowed her intestines to flow up into her chest cavity. Thankfully that was not the case though. Next was, I see a double bubble. A double what I said....? A double bubble that means she has a blockage in her intestines and fluid from her stomach can not pass through, she is going to need surgery right after birth. This was an accurate diagnoses. Next was, she is not growing you need to go on bed rest. WHAT?!?! We may need to take her early if she is not thriving inside. WHAT?!?! Next was, her chin is small we suggest an amnio...I am 34 weeks pregnant at this point....we need to know who to take care of during the delivery, you or your baby, we do not want to put you through any unnecessary risks if the baby is not going to survive. WHAT?!?! We think she may have downs or trisomy 18 there is a good chance she might not live past a month. WHAT?!?!? This last phrase was done the day before my baby shower. As you can imagine a baby shower is NO FUN when you think you are having a baby this is not going to survive. It sucked I pretended the entire day to be happy and then when it was over and all the wonderful gifts were in my house, I CRIED and I CRIED I physically could not stop crying, it was impossible to stop. Days later the amnio results came back, everything is fine they said. No downs no trisomy 18 the results are promising she will just need surgery for her intestines. REALLY?!?! Is this good news? We still do not know why she is not growing but everything is fine. I went into labor a week later at 36 weeks. 24 hours later I gave birth to a baby not breathing and septic. she was rushed away to the NICU and that is when the nightmare started all over again...

I got to see Makenna 3-4 hours after she was born. I cried and felt that everything she was going through was my fault. She was so small, hooked up to a vent, had a tube coming from her mouth with green bile being suck out continuously. Doctors proceeded to tell us that something was wrong she had dysmorphic features and low tone. Genetics came up and told us the same thing.... it sucked to have to hear over and over again that you daughter looked funny or not right. Chromosome Tests were ordered a couple days later. 2 weeks later the results were in. She has a 4q Deletion they said. What does that mean....? Well, we are not really sure, there isn't much out there on her specific deletion we can only say the future is uncertain, she could be delayed, she could have a number of other health problems, growth will definitely be an issue. WHAT!?!?! I was numb that day, the diagnoses meant nothing to me really. I didn't understand it so it didn't matter, right?

About a week later it all hit me like a ton of bricks. I had done some research and I was now on week 3 of being in the NICU with Makenna. I had begun to accept what was happening to us and I started to have an understanding of what it really meant to have a chromosome deletion. I did not like what I was understanding. I CRIED and CRIED. It sucked, everything sucked and I wanted to wake up from the nightmare of it all. I had lost my dreams of what I thought my family was going to be like, what I thought my daughter was going to be like and it felt like everything was taken from me in that moment. I didn't know how to cope with all these overwhelming feelings. I loved my daughter and I knew I would do anything for her but at the same time this was not what I wanted or imagined. It is horrible to be in that kind of an emotional limbo, it makes you feel so guilty.

I finally realized over the next couple of days that even though I had Makenna she was still a loss. I had to lose her to gain the new Makenna, the Makenna I had in front of me now. It wasn't until I realized this that things got better for me emotionally. You have to lose to gain and what I gained was so much better then what I lost. Makenna was teaching me so much about myself, she taught me that my ability to love was greater then I ever thought it was, that my acceptance and patience were some traits I never use to let shine through and that I am tougher and more outspoken then I could have imagined. She brought the real me out and still is to this day.

We spent 3 months in the NICU. The experience in there is like no other. There is no way to prepare for it but when you are finished in there you come out a new person. You have a different outlook on everything. I had to make so many hard life changing decisions for my daughter. I got her home though. That was my goal. She is home and she is thriving. In the end that was all I wanted......

Makenna is now 18 months. She weighs 12lbs 11oz. She is home with a tracheostomy and gtube. She receives therapy twice a week for her developmental delays and hypotonia. She is my 4Qutie (chromosome 4q deletion) She is starting to sit on her own and can get from laying to sitting all on her own. Her means of getting around the house is rolling. She rolls everywhere! She is able to stand in a stander. She is learning sign language. She is DEFYING everyone's expectations. I LOVE IT!

Makenna's Chromosome 4q Deletion

2010-08-10T08:12:00.000-07:00

Chromosome 4q Deletion Syndrome is a rare chromosomal disorder in which there is deletion of a portion of the 4th chromosome. Deletions may be in the middle of the chromosome arm (“interstitial”) or at the end “terminal”) and have varying effects. There are enough common features for children with deletions anywhere along the range that it has been called a syndrome, but as with most rare genetic issues, the differences between children can be tremendous. Visually there are commonalities between kids, much as with Down Syndrome, in this case, the most distinctive visual features include short limbs, a high “frontal bossing” on the forehead, large head, wide set eyes, low set ears, thin upper lip and short, high nose. This gives children a “babyish” look for longer, which can be compounded by motor issues.

Causes

Most 4 q deletions are happening randomly near the time of first cell division after conception. A small percentage of cases are inherited, and for reasons not fully understood, normally functioning parents may have severely affected children, either because they are lacking a translocated piece, or because of environmental issues during gestation or early childhood.

Disorder Symptoms

There are many symptoms and characteristics that affect people with Chromosome 4q Deletion Syndrome.

Low muscle tone is very common, as are gastrointestinal reflux, hearing issues, vision issues, large head, small feet, turned in pinkies, flat bridge of nose, slight epicanthic folds, low set rotated ears, “funny” feet (they bend in a strange place or have overlapping toes or are particularly flat or rocker-bottom). Short limbs compared to torso size are also not unusual, short wide hands and feet are also common.

Hands and feet may be shorter and wider than normal, "tiny feet" are very common. Toes may bend at funny places (the second joint bending down for example) or overlap.

Reflux and coordination issues may make sucking and eating difficult, and even fully nourished children may not grow very well on a normal diet. Breastfeeding children with 4q deletions is very challenging but has been done, bottlefeeding is not generally much easier.

Heart defects appear to be very dependent on the specific genes involved in the deletion. For example, most children with (del)4q21.1-21.3 do not have heart issues.

Large head, craniostenosis, wide set eyes, small facial features, distinctive nose (wide, flat, high bridge), thin lips, small or receding chin.

Low muscle tone and poor muscle control due to an error in signaling between the brain and the muscle can contribute to global delays.
Most often dysmorphic features will prompt a pediatrician or other doctor to order genetic testing. Some children are diagnosed at or near birth, others are diagnosed years later. Most children with 4qdeletion look “mostly” normal to the casual observer, the markers are a little subtle. It is not possible to determine by looking at someone whether they have 4q deletion syndrome, but visual appearance may be
just different enough to prompt doctors to order tests.Diagnosis
Diagnostic Tests

Diagnosis is done with a blood test. A karyotyping test generally finds the gross chromosome deletion, other testing will explain specific breakpoints and determine whether or not the deletion was inherited or a new mutation.

Disorder Treatments

Most treatments are symptomatic, but it is important that all children with 4q deletion syndrome have testing done for metabolic abnormalities. Many children (even those without a frank deficiency) will benefit from use of Coenzyme Q10. Other treatments that have been helpful include Carnitine and R-Lipoic-Acid (for any child with “metabolic symptoms” such as low tone).

Multivitamin supplementation may be helpful to many.

Some children with 4q deletions show signs of reflux, treatment of that may help growth issues. CoQ10 seems to help both reflux and growth issues in some children.

Some children also show symptoms of problems with citric acid, it is suspected that this may be due to problems with the Kreb’s Cycle. Restricted citric acid diets have been helpful for some children.
Prognosis

In general, delays are endemic, in many children, most even, receptive language is better than expressive, and children may never have much functional expressive language. Early sign language and speech therapy, plus alternative communication methods may mitigate this somewhat, but oral motor skill issues combined with a fundamentally different brain process mean that language is a challenge for most children, and “lost language” even more of a problem. Some children may develop vocabulary and lose it, often learning and losing the same words over and over again.

Prognosis is highly variable. There are kids who are just a little delayed, but go to a mainstream school program and learn to talk and walk just a little behind schedule. More typical seems to be to crawl sometime after the first year, walk sometime between age 2 and age 5. Some children do not sit up, crawl or walk until much older.

Autism is often diagnosed in kids with 4q deletion, there is new research indicating there may be a gene that causes autism in girls on the long arm of the fourth chromosome. Autistic symptoms may be atypical, but are very common.

Most children with 4q deletions will require lifelong help and support.

All that said, they seem to be particularly charming and engaging children, all behavior issues aside.

Finally A Signature

2010-08-10T05:45:00.000-07:00

If you like the look and personalization of having a signature like mine at the end of your posts, try this:

Go to My Live Signature. Click on "proceed" and "create signature".

You can then either click on creating a new signature, or uploading a scanned image of your real signature. Let My Live Signature walk you through the steps to create a signature you are happy with. If you create one with their fonts, you can chose the look, size, slant, etc. (You also can waste way too much time and also feel a little crazy at the end because after seeing your name 120 times in different fonts it ceases to have any meaning, lol! That is the fun part. ;-) )

You can save the final product as an image to your hard drive by right clicking on the signature and choosing "save image as", naming it and placing it on your computer where you see fit. Or you can click on "Want to use this signature?" at the end of your process and it will create HTML code for you to place on your blog.

If you decide to use their HTML, copy it, then go into blogger. Click on "Settings" in your blog dashboard, and then "formatting". Scroll down to the bottom where it says "post template." Paste the code you just copied into that template. When you next go to make a new post, that code will already be in it. Just make sure you type your post *above* the code, or your signature will come first in your post.

If you would rather host your own image in a place like Photobucket, right click on the signature image provided by My Live Signature like I described above, save it to your computer, then upload to your hosting place. Copy the HTML they give you, then place this code in the "post template" section under "settings" in blogger like described in the last paragraph: (replace parenthesis with <> )

(img src="http://theURLyoujustcopied.png")

and save. Have fun!

Welcome To Holland

2010-08-09T13:43:00.000-07:00

A poem that Makenna's developmental specialist in the NICU gave us back when we first received her diagnoses. At first I was in denial so I didn't really grasp a connection with the poem but now I really do appreciate it. I feel it describes the experience of raising a special needs child gently and beautifully. For some reason I thought of this poem today and decided that I should probably share it.

Welcome To Holland

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience

to understand it, to imagine how it would feel. It's like this . . .

When you're going to have a baby, it's like planning a wonderful vacation trip to Italy. You get a bunch of guide books and make all your plans. The Colosseum . . . the Michelangelo David . . . the gondolas of Venice. You get a book of handy phrases and learn how to say a few words in Italian. It's all very exciting".

"Finally, the time comes for your trip. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says:

"Welcome to Holland."

"Holland?!" you say. "Holland? I signed up for Italy. All my life I've dreamed of going to Italy!

"I'm sorry," she says. "There's been a change and we've landed in Holland."

But I don't know anything about Holland! I never thought of going to Holland! "I have no idea what you do in Holland!"

What's important is that they haven't taken you to a terrible, ugly place, full of famine, pestilence and disease. It's just a different place.

So you have to go out and buy a whole new set of guide books . . . you have to learn a whole new language . . . and you'll meet a whole new bunch of people you would never have met otherwise.

Holland. It's slower paced than Italy, less flashy than Italy . . .

but after you've been there for a while, and you've had a chance to catch your breath, you look around and begin to discover that Holland has windmills and Holland has tulips - Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy . . . and they're all bragging about what a great time they had there. And for the rest of your life you will say, "Yes, that's where I was supposed to go. That's what I planned." And the pain of that will never, ever, ever, ever go away. And you must accept that pain - because the loss of that dream is a very, very significant loss.

But . . . if you spend your time mourning the fact that you never got to go to Italy, you may never be available to enjoy the very lovely, very special things about Holland.

"Welcome to Holland!"

by Emily Perly Kingsley