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!!!