sophias-story

It's Raining Bad News

Thu, 26 May 2011 01:18:51 +0100

You know the old saying, "when it rains it pours!" That always seems to be the case. Today we went to see Sophia's opthalmologist to follow up on the styes that keep multiplying on her eyes. We ended up dilating her eyes due to the MRI showing she has colobomas on her optic disk. We took advantage of the opportunity to check her vision and things have gotten even worse. A year ago her vision was -7 & -8. Today it's -9 & -10 with severe astigmatisms at 250 & 350. Her opthalmologist is doing experimental lasik surgery on kids with severe vision loss (like Sophai's) and developmental delays. In order to be in this experimental treatment you have to atleast be 2 years of age and less than -11. Her doc thinks she'll surpass the -11 and not be a candidate for lasik. I know 2 CdLS families that are in the treatment and it improved their kids vision drastically along with their development. There's another experimental treatment that the opthalmologist believes would be a better fit for Sophia but we will discuss that at a later date because right now her eyes are too small for the procedure. Of course they are! It's just been one of those days!

She woke up refusing to eat after not getting an overnight feed. Finally at 10:30 am she still hadnt eaten so I gave in and hooked her up to her feeding pump. By this time we were in the waiting room at Texas Childens. Somehow I spilled pink strawberry pediasure all over my white shirt and beige pants. At this same time her pager starts going off and everyones watching me clean up this mess with a pager thats buzzing off the table and Sophia starting to sceam because she wants attention. We go in and get her drops and then go into a different waiting room as we wait for the doctor. Her feed finished, I flushed her line, and began to clean everything up. I look over and she's vomiting through her nose. My reaction was to pick her up and suction her nose. It didnt take long for me to realize that now I have vomit ALL over me and her stroller. Then we go in to see the doctor and I get this bad news thrown on me. On our way home I spilled coffee all over myself and my seat. When we got home the pharmacy called to tell me her insurance is refusing to pay for the medication that her opthalmologist wants her on for the styes. Oh and the opthalmologist is booked all the way up to August for surgery. Sophia has to have surgery to take care of the styes. We've been doing the warm compress and cleaning with baby soap but the styes are multiplying.

All this with Sophia while I'm waiting on my biopsy results. Yesterday I went to the dermatologist to have three moles looked at. Well all three were suspicious and had to be removed. A few years ago I had an Atypical (precancerous) mole removed so I'm at a higher risk for developing skin cancer per the dermatologist. I dont have time to be sick! The moles had been there for awhile but I just didnt have time to go have them checked out. My concern is making sure Sophia is taken care of but what I forget is that in order to take care of her, I need to take care of myself. I'm sure they are nothing and everything will be fine. I've been told God wont give me more than I can handle so I just know things will be fine. Because having cancer is something I cant handle.

C'est La Vie!

Mon, 23 May 2011 01:16:05 +0100

Not one of Sophia's better days, thats for sure. She's refused to eat by mouth all day and while we have the option of feeding her through her g-tube I still have a hard time accepting that option. I was told by so many parents who's kids have a feeding tube that this will help ease things and take stress off me when she wont eat or when she's sick. I understand how that can be true and it has come in handy at times. Still, when it's a full day of non oral eating I begin to think of the what if's. What if Sophia realizes she doesnt have to eat by mouth in order to get full? What if that causes her to stop eating by mouth all together? As I push the start/run button on her feeding pump these thoughts begin to rush through my head and my anxiety level starts to rise. At times like this I feel as if no matter what I do the outcome could cause terrible consequences. If I continue to feed her through the g-tube she could very well stop eating orally but if I dont feed her through her g-tube she'll lose weight and become dehydrated. If I have to choose the lesser of two evils, in this situation, I choose to feed her with the g-tube. Some might say I'm giving in too easily but when you have a child who's so small she's not even on the growth charts and hasnt eaten anything in over 5 hours, you gotta do what you gotta do. So for me the feeding tube has taken away one worry but only to replace it with another. C'est la vie!

LIFE 5-18-11

Mon, 23 May 2011 01:16:32 +0100

Since my last blog so much has happened. Sophia had an endoscopy that showed active reflux meaning she has a constant flow of acid in her esophagus. This acid has already began to affect her on a cellular level. We started Sophia on Carafate syrup several times a day. Carafate acts like a protective coating so that we can give her esophagus time to heal. My only concern is that at such a young age her esophagus has already been damaged.

Suddenly just two weeks after her endoscopy Sophia refused to eat. For 5 days all I was able to get down her was 1-2 ounces of pediasure each day. She began showing signs of dehydration so we took her to the ER and she was admitted. I had been in touch her her pediatrician all week and Sophia's GI. During Sophia's protest against food I finally agreed to move forward with the g-tube surgery. After all, Sophia refused to eat because of the pain in her esophagus and if we had gotten the g-tube earlier we could have kept her out of the hospital this time. We were in the hospital for a week in which during this time Sophia did get the bard button. Of course after surgery she began to eat orally again but we have a plan B in case this happens again. Since we have the button we might as well use it, right? We began to give her small amounts of food overnight to help add to her caloric intake. She has been getting 120ml over a 6 hour period. I'm debating on giving her a lesser amount because her appetite during the day is still not where I want it to be. Our goal is to make sure Sophia takes in 600-1000 calories a day and she's doing that now but only by doing the night feeds. I feel as though she's full when she wakes up so she doesnt want breakfast until mid morning or around lunch. I'd rather keep her eating more by mouth and lessen the overnight caloric intake. I'll just add more duocal to her food and give her lots of fatty foods like avacado.

Sophia also had an MRI of her brain, ears, and arms. My main concern at this point is not of her arms but her brain and ears. We dont go discuss the results with her neurologist for a few more weeks but reading the report has caused my anxiety to go off the charts. Researching what each of these mean only added fuel to the fire. The results show a 6mm cyst within her pituitary glad, mildly and diffusely thinned corpus collasum, gyral simplification, mild brainstem and inferior vermis hypoplasia most evident in the Prons, Bilateral Optic Disk Colabomata, and absent left olfactory bulb. Bilateral Optic Disk Colabomata and absent Olfactory Bulb are both seen in CHARGE syndrome. GREAT!!!!! When will it ever end?

Another Sophia Update 4-8-11

Mon, 23 May 2011 01:16:47 +0100

It has been many months since I've last blogged. Life simply caught up with me and there just wasnt enough time in the day. Sophia is now 16 months old and over all she's in good health. This little girl, as tiny as she can be, is the strongest person I have ever known. Talk about durable! She's rolling over, doing some small babbling, loves to drink from a straw or open lid cup, plays with her toys, and her smile can light up any room. She still cant sit unattended, she enjoys standing but cant do that unattended either, she cant eat textured foods, has a hard time drinking juices but she can eventually get it down. This morning, while looking at a Pampers coupon we had gotten in the mail yesterday, my husband asked if seeing things like that make me sad. On the cover there is this mother laying in a field of flowers with her toddler gentling touching her face with the palms of her hands. My answer was a simply "NO." I have accepted this life. I accept Sophia for who and what she is. If we get caught in that realm of saddness then our lives will not move on. We would simply exist in life and not live this life. Sophia reaches out and touches my face on a daily basis. Her soft and gentle touch is something I will never take for granted. I try not to think about the what if's and the what could have been's because that is not reality. My reality is Cornelia De Lange Syndrome. It's doctor appointments, therapy sessions, medications, procedures and surgeries. It's really high highs and very low lows. This diagnosis does not make Sophia who she is. It is a part of who she is but Sophia is Sophia. She is the little girl that refuses to sleep in a crib, bed, or bassinet. She is the girl that must sleep in her swing all night, everynight. Sophia is the girl who communicates with her eyes and simple noises instead of words. She is the girl that loves to play at the park and be outside. She dances with her chicken elmo, smiles back when she see's a smile, tries to walk, and loves to cuddle. She must at all times see someone or she pitches a fit. She will put her head on your shoulder and pat you on the chest. Sophia loves her brothers and really enjoys playing with them. Sophia is Sophia. Sophia is not CdLS, she has CdLS.

Blessings 7-19-10

Mon, 23 May 2011 01:17:11 +0100

It's been awhile since I've last blogged. Sophia had surgery, the boys had things to do and then Sophia got sick. Basically life caught up with me and kept me busy. Although I'm extremely tired tonight I had to put down my thoughts and feelings so here goes....

The other day I was talking with my sister and she made a comment about how God knew long before I was even thought of that Sophia would be in my life. God had all this planned and set out exactly how he wanted it to go. My older sister, who as a child I thought she was the wisest person I knew, told me what I had heard many times before. Still when she said this it made me think of it in a different light. She said, "God will not give you more than you can handle. He knows how strong you are and he knows you can handle everything with Sophia. He chose you to be her mom." My sister along with the countless others who have said this to me are completely right BUT they've looked past one detail. God, my God, must have Faith in me. He must have faith in me to allow me to care for one of his most special and fragile children. He could have chosen so many others to be her mommy but he chose me. Like the blue prints of a house only God knows the blue prints of my life and by his grace I was given Sophia. There were times during my pregnancy when I was very depressed. I would cry asking God to please help me understand. It wasn't in his plan to give me the answer then but he's given it to me now. Sophia is a blessing. I mean a true hand picked blessing that only a few of us have been so blessed to know. So many parents take the small things with their children for granted. I can be honest and say I took things for granted with my boys. Then Sophia came along and I've learned to appreciate all the small things. What an amazing blessing to be given. To take each moment and live in that moment with your children. To appreciate every smile, every laughter, every tear. To applaud and celebrate every milestone reached and enjoy being able to doctor each and every skinned knee.

If you have the chance make mud pies with your kids. Dance and play in the rain. Be silly and pillow fight. Don't sweat the small stuff but enjoy it.

Happy Day! 7-9-10

Mon, 23 May 2011 01:17:28 +0100

It's amazing how one day you can feel at the bottom of the world and then the next your flying above the clouds. How one day you wake up and realize you've been neglecting yourself while trying to learn to balance life and all it's unexpected glories. Today has been a good day. I mean a really good day. I woke up feeling great. Went to Sophia's follow up with her cardiologist and received wonderful news. The cath procedure worked better than we suspected and Sophia's gradiant has gone all the way down to 30! Immediately after the procedure her gradiant was 70 and in one week it's gone to 30 so what more can I ask for?! Life has a funny way of knocking you down only to pick you right back up again. I felt stress immediately beginning to melt off my shoulders after the cardiologist came in. Now instead of monthly visits we go every 3 months. Scratch one doctor off the monthly visitation list!

Today I also went tanning for the first time in about 2 years. Tanning although bad for your skin, I know, is something I've always enjoyed doing. I've realized lately that I have been neglecting myself since we found out about Sophia's differences last August. To finally go and do something thats me, something that I enjoy and something that makes me feel better about myself was just wonderful. I think our family is finally finding our groove in our new life. We've found what works for us and although we're still learning we're working it all out.

The Fright of My Life! 7-6-10

Mon, 23 May 2011 01:17:47 +0100

Whats usually handled as a day procedure ended up being several days with Sophia. Although this was our first experience putting her under anesthesia. Sophia went in for an endoscopy, cath procedure on her pulmonary valve stenosis and ear tube placement. Everything started out being delayed by 5 hours so that should have been my big red flag that things were not about to play out as I had expected. Each doctor came out to consult with us after they finished their part. Each doctor said things went great and Sophia seemed to be doing wonderfully. Then as we are waiting to be paged to go see her in post op we see the anesthesiologist walking into the waiting room. UH OH! She tells us that she tried to extubate Sophia and that Sophia took one breath but after that she didnt breath on her own again. Sophia had to be reintubated. She goes on to tell us that Sophia is on a ventilator that's breathing for her and she's being taken to ICU. Once she's stabilized in ICU we'll be allowed to go up and see her.

I have never in my life felt so empty inside. The fear of losing her came over me. Although I was terrified of that thought I couldnt cry. I was so incredibly sad and I felt this terrible pain deep inside of me but the tears didnt flow. Is something wrong with me? I know all about the dangers of general anesthesia and reasons like this is exactly why people have that fear. My mind knew all the possibilities but my heart wouldnt allow it. My heart wouldnt allow me to process the fact that we were so close to losing her. That very day, that very moment. Was I laughing in the waiting room as she took that last breath? Was I eating a snack or talking on the phone.... Have I taken a single moment with her for granted? It seemed like it took forever to finally see her. When I walked into the ICU room she looked so fragile. It was hard to see her with all those tubes and cords running from her tiny body. There's nothing I wouldnt have given to trade places with her. As I stood by her bedside at some point during the night Sophia started to wake up and thrash about. As hard as it was to see her that way I was so thankful for it! She was waking up. She was moving and she was fighting. She was fighting then as she has always fought. Early Saturday morning she was taken off the ventilator and I was able to hold her again. I cuddled her so tightly in my arms and just sang and talked with her. I didnt care who walked in that room I continued to sing to my sweet girl. I wanted her to know that not for a second did I leave her side. I was right there with her and by her side I'll always be.

As the hours passed Sophia slowly got better. Sunday she was given a steroid to help with her throat and the inflammation caused by all the tubes. Then Monday morning she was ready to go. My little fighter was once again on her way home after almost giving me a heart attack.

Sophia Turns 5 months old! 4-23-10

Mon, 23 May 2011 01:18:09 +0100

It's hard to believe that Sophia turns 5 months old tomorrow. Still tiny weighing in at 6.8 lbs and almost 19 inches long. These past 5 months have been a defining time in my life with constant ups and downs. Each week is filled with doctor upon doctor appointments. If we arent out of the house visiting doctors in their offices or in clinics we have therapist at the house. It's been hard, really really hard to stay strong and persevere through all the obstacles that are thrown our way. There are days when I'm constantly on edge watching Sophia's body language to try and stop her from vomiting before it starts. Then there are days when it feels like she's making huge leaping steps to overcome her GI issues. On days when I feel like giving up I pop in my "Sophia" CD that's full of songs that help inspire me to get going. Two of my favorites is "In my daughters eyes" by Martina McBride and " I didnt know my own strength" by Whitney Houston.

I've been in the works of starting my own business because with Sophia being medically fragile there is no way I can work for someone else. There are just too many appointments each week for me to get a job. So I've done almost all I can do and now I have to work on getting clients but thats an issue all on it's own. I just dont know how to balance it all. Im home alone during the day with Sophia and I cant call around to try and build my client base because if she wakes up screaming I can surely count that person out. My husband tries to get out of the house as much as possible. I know it's all still sinking in with him because men just handle things like this different but at times I just wish he would hurry up and deal with it already. One day I totally jumped on his case and told him that if he wants to be out of the house and away from us so damn much then he needs to just pack his things and go. I didnt mean it of course but the stress of Sophia constantly needing attention on top of having two other young kids builds to the point of no return. I cant go to the store without getting a call 30 minutes after leaving the house with my husband in a panic and Sophia screaming in the back ground. She's spoiled to me and only wants me but it's his own damn fault for never being around. Common sense would tell you that if your own child cries everytime you hold her then maybe you should spend MORE time with her. She's only spoiled to me because I'm always there to hold and comfort her.

I've taken Sophia out on several small and short outings now. Usually after a doctor appointment I'll run into a store to grab something needing for the house. At first it was hard but it's gotten easier. If you've followed my prevoius blogs I was concerned about the looks and the whispers we would get. Well it's a constant thing when we go out. At first I acted as though I didnt notice but now if an adult is staring I look them right in there eye. When they notice what I'm doing and that they've been caught they all get this ashamed look on their face. Some people will pass us by and smile but you can obviously see the question marks on their faces. I cant count how many times I'm asked how old she is and the response is always the same. "Oh she's so tiny!" I'm tired of saying that she was preemie or she was born with a syndrome that will cause her to always be smaller than her peers. I think I'm just tired of explaining whats going on with her. Awareness is key.... Everyone knows about Downs so when you see a child with Downs you dont question or say anything to the parents because you know about the condition. May 8th is CDLS awareness day. I'm going to contact my local news media in hopes that they will air a small segment on CDLS. I'm also going to make a bracelet for each person in my family with the letters CDLS in hopes that when people see the bracelet they will ask what it stands for and the education and awareness continues. I plan to try and sell some at an event thats coming up the first weekend in May along with other jewelery I've made. All money earned will go towards Sophia and put into her savings account we've established. After all, one day I will not be here so I have to begin thinking about her future and making sure she's financially secure for whomever takes over her care.

Sophie seems to be developing right on target for her age group. Her corrected age is 3 1/2 months and she's reaching all the milestones. She rolled over on 4/11 from her back to her tummy and she was so mad at herself afterwards, lol. She's smiling and laughing and cooing. She loves to be kissed on her neck! Yeah that will surely get her in trouble one of these days, lol. Every time I kiss her on her neck she looks at me and gives me a huge smile. She tries to reach out for me with her arms and when she's fussy if I pick her up she stops crying. She's doing well with her hearing aids and doesnt mind wearing them. The only issue is that when she has them on she's constantly messing with her ears so they fall off. It's a constant battle to keep them on.

Almost Home! 1-8-10

Mon, 23 May 2011 01:18:59 +0100

Sophia is doing exceptionally well! Yesterday she was moved into an open crib and we were finally able to wave Goodbye to that darn incubator! Its so easy now getting her in and out of bed. Before it was such a long process and now I just walk over and pick her up. It's a good warm feeling to be able to see her in a crib. Yes ladies, I cried! It took 6 long weeks before I saw my princess in a crib but the wait was worth it. She's also gaining weight at a good pace. As of lastnight Sophia weighed 4 lbs 2.5 ozs! I know she's still teeny tiny but she's so big compared to when she was first born. She's even getting rolls on her thighs and her cheeks are getting so chubby.

Sophia passed her eye exams and is in the clear for ROP. She's no longer at risk for blindness due to prematurity. YAY!!!!! Today she had her hearing exam and passed in the left ear but failed in the right. I was told not to worry because they think it was due to the noise in the NICU at the time so she'll retest either this weekend or Monday. I'm really not worried because I know her hearing is fine. She responds to my voice!

So here is the best news EVER! On the 15th she gets her developmental exam and then on the 19th her repeat echo.... then we get to start talking about going home! The doctor said she will be home by the end of the month! I cant wait to get her home!

Oh the thought of cuddling with her in bed without all the wires and machines around just tickles my heart.

Rough Day 12-13-09

Mon, 23 May 2011 01:19:19 +0100

Today was a rough day for Sophia. I'm sitting here crying and I'm not sure if it's from exhaustion or simply from the day we had. After Sophia's feeds her oxygen level goes up and down but today was awful. The culprit is reflux and today was terrible. Usually she stays between 99 and 78 on oxygen level but today she kept dipping down into the 50's. She's able to go back up on her own without needing oxygen but just the fact that it keeps happening is hard to handle. At one point she was really fussy and ended up refluxing thru her nose. She cried for an hour afterwards and we kept having to suction her nose. I just sat there and held her, kissed her, talked to her, and tried to hold in the tears. Tonight after she nursed I put her back in the incubator and for 10 minutes non stop her oxygen level kept going up and down and the monitors kept going off. The nurse didnt even come look at her!!!! Finally I asked her to page the on call doctor AGAIN. The day shift nurse paged the on call doc at 6:30 and they never called back. Anyhow, the doctor came over and I was almost in tears and was a litte rude to her but I'm just so frustrated and tired of hearing them say they will just "watch her." What the hell does that mean? How long will they let this go on?? ACID REFLUX HURTS!!!!!! So basically she cant do anything because she not the doctor that over see's Sophia's care but she wrote a note in the chart and will talk to them when they come in on Monday.

I've been at the hospital 24 hours a day since Thursday morning and I just cant leave her. I'm exhausted. My breast hurt. My incision still hurts a little. I hardly eat anything most days. I miss my husband, I miss my other kids, I cant seem to get this spoiled milk smell off me, blah, blah, blah, blah, blah...............................................