Life goes on...

Summer started and life got very busy! I try and give each one of my kids my 100%. We go go go all day. Life doesn't stop even with a special needs child. We include her in everything we do. I think she has enjoyed all of our little daily adventures. The only issue we have is that the Utah summer heat has hit and Leah's body over heats. We have to be very careful with having her out in heat for long periods of time. We kept Leah home all winter and now she is seeing life outside our home. It's a lot of work taking her out. I rely on my kids help and they never let me down I am so proud of them. One of Leah's first outings was the swimming pool at our neighborhood rec center. I will never forget this day. My kids were off playing in the water and I was sitting on a bench taking care of Leah. I could feel all the eyes of children and mom's staring at me and Leah. I knew they were just curious about Leah. I had a very hard time with this first experience of having Leah out in the public eye. I was very uncomfortable with people staring at us. I actually cried that night when I put my kids to bed. I am now used to people staring at us. I just smile at them. I am so proud to carry around my Leah in public. The best thing others can do for me is to just simply give us a big smile. It would make my day!

Life goes on with Leah! The last post we had started seeing progression with Leah by giving her the amino acid serine. Unfortunately the progression came to a halt. It lasted about four weeks, then one day it all stopped and she went back to where she was before giving her serine. It was sad! We emailed Dr. Longo. He doesn't have any answers right now or another path to go down...very frustrating for us. We told him we wanted to go back to giving her vitamin B12 shots. He said that was okay. We also got more folonic acid to give her with her shots. This combo was a key to Leah coming back to us last summer. Hopefully we can see some results!

We want more opinions for Leah's condition. We decided we are going to take a small trip up to Helena, Montana to see a Pediatric Geneticist. One of Chad's doctor friends is good friends with this Geneticist and has encouraged us to have him see Leah. He said people come from all over to see this guy. We are in the process of getting all her records from her Pediatrician and all her doctors from PCMC. We hope to see him in August.

Leah continues to vomit daily. It's getting old very fast. I guess there's a connection with neurological problems and vomiting, she usually vomits after a bad seizure. We took Leah to see her gastro doctor about this and he suggested we put her on Erythromycin . We give her small doses a half an hour before each feeding. This helps speed up the stomach to digest food faster. In small doses Erythromycin doesn't act as an antibiotic, I was very worried about that. I didn't want Leah to be on an antibiotic daily. So far, it's worked okay. She still throws up almost daily but the volume has decreased. Sorry if that's gross! Dr. Jackson saw that her weight has plateaued because of the vomiting. He now wants her intake to be 1200 calories.

I meet with a nutritionist this past week and we are finally starting the blended diet for Leah. I didn't want to start the diet until we officially met with a nutritionist and Leah was being closely watched. Leah is fragile and very under weight so I didn't feel comfortable starting the diet on my own. She needs to be monitored very close by a professional. We came up with a plan and here we go. We will be starting her slow. She receives four meals a day of formula by a pump. She will now get four feeding a day by bolus (meaning I will be slowly pushing the food through a syringe into her feeding tube). This will take time at first. But our hopes is that her stomach will get stronger and she can handle the food at a faster rate. It might take 20 mins at first then hopefully we can get to 5 minutes per feeding one day. She will be getting REAL food. This is an example of a recipe:

1/2 cup cooked barley
1 1/2 c cooked carrots
1 cup pears
3 oz chicken
2 c whole milk
4 Tbsp olive oil

Blended up in my awesome blendtec blender. It purees it so smooth so I can push it through her feeding tube. I am so thrilled to give my child real food. I was not about to have my daughter go through life living on formula. It feels so good to do this for Leah. Lauryn said "Mom I love that Leah gets food now it helps me feel like she's normal".

Leah is now wearing braces on her hands. Because of her neurological problems she always has her hands in a tight fist. Well, her thumbs are now becoming deformed. She wears these braces to keep her thumbs out. She really wines when I put them on, she really hates them. It probably hurts her when I first put them on and then she adjusts.

I would never make it without her therapist's. I truly rely on them to help me care for Leah. They are so wonderful! I have grown so close to Becca, her occupational therapist. Sandra is her eye therapist and Susan is her physical therapist. I love them all! The best part is they love Leah so much and they take such great care of her.

I am doing really well these past few months. I am adjusting to this new life of caring for a special needs child. It took me over a year to get to this point but that's okay. I needed time to mourn and time to adjust. Having a diagnosis has helped this process. This is what Leah's life is meant to be and I accept it. The best thing I did for myself was to let it all go! I trust God! I gave him all my pain and humbled myself. I am not in control He is. When I learned to let go and let him be in control I became a new person. A happy person! I am myself again, I joke around and laugh again. I accept my new life. I love my new life. I love who I am because of this little girl. I am strong and humble and happy. I live a very simple life now. The little things don't matter anymore. I have learned a great deal about life these past couple years. I truly live everyday to it's fullest! The little things in life are the greatest things. I thank God everyday for this new view of life!

Noticeable improvement!

Leah is doing amazingly well! She is moving her little body like crazy! Her legs are going going going! She is moving her head all around, looking at everything. She is taking in the world! It is so beautiful to watch. It brings me to tears sometimes. Everyone says "she looks so alive". Our family and friends are blown away when they see her. It's been so fun. I hope it just keeps going! I pray this is the right treatment for her. So far so good.

The down side is Leah is still having seizures at night. But the up side is the seizures aren't affecting her progression.

Leah's vomiting is still bad. We switched her formula this week in hopes that it will help. We are also giving her baby food. She is doing well on the baby food. I am also blending her some fruit and adding it to her formula. We are slowly transitioning her off formula and on to a blended diet. We got a blender from "Blendtec" it's so amazing. It blends food perfectly so it can be pushed through her tube. An everyday blender wouldn't work we needed a Blendtec blender. It is seriously amazing! I couldn't do a blended diet for Leah without this blender.

Leah got her eyes checked. Her vision is great! Her eyes are working together and the one eye that sometimes turned in has corrected itself. Leah's eye therapist comes every week. She was so happy with Leah's progress last week. 

We have an appointment with her gastro doctor Dr. Jackson on Wednesday. We are anxious to chat with him about her reflex, vomiting and constipation. My happiest days are when Leah doesn't throw up and when she poops. Seriously, it's crazy what makes a mama happy!

Tyler is still just so dang cute with this little girl. He said the other day. "Mom, Leah has the tiniest ears in the whole wide world, I just love them. They are so soft and squishable." I just love that kid! He cracks me up!

Test results

WOW!!! It's been way too long since I last posted. Life has just been crazy! Chad left for Texas for a week... A week of taking care of Leah and three other children alone is madness, Leah alone is a two person job. But, I made it thanks to wonderful parents and in-laws. Then I got sick and at that point I realized I just can't ever be sick to keep up on this life especially being sick for over a week and the week my parents went out of town.

We got our test results back. It showed that Chad is the carrier of this gene GRIN2A. As a result of this news it makes it difficult for the doctors to figure out exactly what's going on with Leah. As for now we are going to continue to treat her glutamate channel with serine which is another amino acid. When the cells receive serine it triggers the glutamate channels to open up. We are keeping a journal and reporting daily changes. Changes we have seen after being on the serine for a week now are: She is moving her head to look at us when we call her name or shake a toy (this is HUGE). I can't even describe the joy that we have felt when she turns her head to find the person talking to her.  She is very alert and is giving great eye contact, She is kicking her legs a lot, she has more expressions on her face. She is also making little noises (we haven't had that for almost a year). We are absolutely thrilled with this recent progress!

Having an answer and knowing Leah's condition has been a big relief! We have prayed for a year and a half to get an answer. I still can't believe we got an answer. I never thought that day would come. We feel like we can move on in life. We sleep better and our brains aren't going 100 miles an hour trying to figure out Leah...We just simply adore this little girl! We love who she is! She lights up the room! I am so honored to be her mom. This past Mothers day was very emotional for me. I couldn't stop thinking about a poem I read. The last sentence in this poem is says "God hand picks mothers for these special children". God trusts me with Leah. I am so honored!

Button surgery

At PCMC (way too early) waiting to go into surgery:

Surgery went well, here is her button:

Tyler said today: "Leah you are growing up so fast".

An appointment with Dr. Longo

We met with Dr. Longo today, he is Italian and has a very strong accent. I struggled to understand him but my husband is a champion at understanding him. Chad also understands medical language so I let him take over. He really knows how to speak to these doctors after all that's what he does for a living. I basically just have Chad translate the whole appointment to me afterwards.
Dr. Longo was happy to see that Leah was a lot more alert from the last time he saw her. He explained in detail Leah's GRIN2A (glutamate receptor gene). He also expressed how very rare it is and that the medical industry just found the gene three years ago. He is anxious to get the results from our blood tests (hopefully they get here soon). He said that he needs to see if we are carriers before he treats Leah. He is going to treat Leah by giving her a certain amino acid. This amino acid opens up the receptor that is not functioning correctly, he hopes this will help Leah. Dr. Longo explained that Leah will always have this condition but he hopes that he can help give her a better life. He said that six months ago he was very scared for Leah, he is no longer scared. Hearing these words from him really helped give us hope.

We are headed back up to PCMC tomorrow morning to have a small surgical procedure done for her  feeding tube. She is going to get a button put in. She will no longer have a tube hanging from her belly. I will show pictures of the button soon.

As many of you know Leah has a terrible stomach. I thought I had gone to the ends of the earth to help this poor girls stomach. But I guess I haven't gone far enough because I just found out about a blended diet for tube fed children. I am reading a book on it and I've been discussing it with Leah's therapist Becca, who is a feeding specialist. Together with a Nutritionist we are slowly switching Leah to a blended diet. This diet is basically blending nutritious foods and syringing it through her tube. Of coarse we will be starting out like she is a six month old baby getting her first foods. I am so excited. I approved it through her doctor and we will be on our way soon. Many families have found that their tube fed children with stomach problem have done so well on this diet. Their constipation, reflex and vomiting go away. The thick mucous that these children get goes away and great color comes back in their skin. I can't wait to get started!

Leah sleeping

One of my favorite things is to watch Leah sleep, she stretches and moves her arms and legs around like a healthy baby.

Leah fell asleep in her stander. WOW! She has some crazy hair in these pictures.

Leah was having all sorts of crazy dreams in this picture.

So sweet!!!