Seven Snippets: All About Tennyson

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Last Sunday, Tennyson woke up with a cold. I hate when she gets sick. It's never just a simple cold. It hangs on and she gets congested and she's just plain miserable. I grabbed the sodium chloride and nebulizer as soon as the runny nose started. If you remember, a cold she caught last May, landed us a 3 day stay in the hospital. I kept her out of school last week and took her to the doctor on Friday to get antibiotics. She seems better, but still has a cough. Hopefully she is just building up her immunity for the upcoming cold and flu season.



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On Friday, she also saw her cardiologist. We have not visited the cardiologist since she was about 15 months old. At that time, she was being followed to monitor a patent foramen ovale (a hole between the upper chambers of the heart that doesn't close soon after a baby is born). Once the PFO resolved on it's own, we thought we could cross cardiology off the long list of doctor appointments. We were wrong. Unfortunately, the micro-duplication on her 19th chromosome puts her at an increased risk for heart complications due to the genes that she has extra copies of. She needs to have a yearly echocardiogram to monitor her heart. During the ECHO on friday, the results were normal. Her heart is functioning normally, and the anatomy is all normal. The only caution is that the thickness of her heart is on the high end of normal. She will have to be monitored to make sure she does not develop hypertrophic cardiomyopathy.

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I ordered a Pumpkin Pack for Tennyson! These are adorable backpacks that are modified to hold feeding bags and pumps. I've been sending Tenn to school with her pump in a lunch cooler, and I hang her feed bag on the back of her adaptive stroller. Sometimes it works fine, sometimes it doesn't. The extra tubing is a pain to wrangle. This will hopefully make everything easier. Her pump and feed bag will be held in the pack. I had it monogrammed with her name on it. I'll let you know how it works out for us when it arrives. I've heard nothing but good things about them. I'm pretty excited!

Image courtesy of Pumpkin Packs (www.pumpkinpacks.com)
 

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We are planning on banking the cord blood from Baby #2. Our hope, (as long as Baby #2 doesn't need her cord blood), is that Tennyson can use it. We were not able to participate in the current clinical trial at Duke because we didn't bank Tennyson's cord blood. Hopefully, a clinical trial involving sibling cord blood donation is coming. We will continue to pray this is an option to help Tennyson in the future.

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Remember last January when Tennyson got a lumbar puncture to test for cerebral folate deficiency? (and the super emotional post that followed when we found out she was going to be treated for it?) Other than some increased awareness and head control, it didn't bring the results we were hoping it would. It's understandable - medically speaking, Tennyson has a lot going on. We're going to increase her dose of leucovorin and see what happens. We have another medicine that we can try as well, to see if that shows better results. We are also looking into traveling to Atlanta to visit a clinic that specializes in treating cerebral folate deficiency.

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Tennyson has a new favorite activity: drinking water. She loves it! It has taken her a long time to get to this point. She is beginning to lose the oral defensiveness, and loves to try tastes of drinks, broths, and purees. Though her favorite - by far - is water.

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We started Tennyson on a 3rd seizure medicine about a week and a half ago. The new medicine is called Clobazam (aka Onfi). It will take month to titrate up to the full dose. We are going slow in order to minimize the sleepy side effect if has on her. So far, I'm pleased with it. I've noticed a significant decrease in her seizure length and frequency. She had started to seize frequently when waking up from her afternoon nap and when I put her in her carseat. Since we started the medicine, she has not had a single seizure when waking up from her nap. She has had 2 seizures from the time we began the medicine, but she is not at the full dose yet, so I'm not disappointed.

Amy

tennsense@gmail.com

The Results Are In

I know a lot of you have been anxiously waiting for Tennyson's lumbar puncture results right along with us for the past two weeks. I know you have been praying for her and I want to thank you for any time you spent praying to God on Tennyson's behalf.

Tonight we received the news we have all been praying for! Tennyson will be treated for cerebral folate deficiency! I can't even describe the happiness our entire family is feeling right now.

I'm writing through tears right now - happy tears - but I can't seem to control this renewed sense of hope and confirmation that God is faithful and has an incredible plan for this little girl.

This is how I found out tonight:

I called earlier this morning to check if the results came in yet. Nobody answered so I left a message. When 4:30 p.m. rolled around, I figured I wouldn't hear from anyone and decided to just check back tomorrow. I needed to go to the grocery store, so I left the sweet girl with the husband and headed to Walmart to shop in peace. I was on the phone when they called and I had to hang up quick with Tennyson's Nana so I could get the call. Eeeek! They were calling!

I answered the call and it was our neurology nurse practitioner (we like her) and she let me know she literally received the test results about 5 minutes before she called me.

Eeeek! She had the results!!!! She said they wanted to treat Tennyson for cerebral folate deficiency! I think I squeaked out, "that's so cool!", and already started crying.

She said that the normal range for folic acid was between 40 and 150. Low numbers are more deficient; higher numbers are less deficient. Tennyson's results came back with her level at 46. She is considered borderline deficient, but the doctor whom reviewed her results recommended treatment. She also mentioned the doctor was a top specialist on CFD and I couldn't have asked for a better doctor to be reviewing Tennyson's results. She said they were hopeful for Tennyson to make progress once we began treatment. We start treatment tomorrow! She already faxed in the prescription to our pharmacy.

I'm sure I looked a little mentally unstable as I was tearfully grocery shopping this evening. I was overcome with emotion. I don't think I realized how badly I wanted this for Tennyson. It's an incredible feeling to feel hope again. I mean, I've always had hope for Tennyson's progress, but this just feels differentt. I think it's because the doctors sound so hopeful. They are usually more reserved. I might get to hear my daughter say, "I love you", or have her reach out to give me a hug, or watch her learn to walk. Those were things I never realized I wanted so badly.

My mind just raced with all the things that she could potentially do. At one moment, I realized I was just standing in the produce section staring at the floor with tears on my cheeks. I was probably starting to scare people. My husband called and I told him the good news. When I got home and walked through the door, we all hugged each other as I held Tennyson.

Tomorrow is the first day of the rest of our lives. I have a feeling we are all about to witness a miracle and I'm so excited all of you will be right here to witness it with us!

e-mail me at tennsense@gmail.com with questions or feedback!

Amy

Why We Were at the Hospital (again) Today

Many of you wanted to know how Tennyson is doing now after reading her birth story. Overall she is doing well. I will continue with Tennyson’s history in the coming weeks, but I’ll share something current about her today.

I haven’t shared this with anyone except our close family and friends. Not for any significant reason other than it’s somewhat complex to explain.

Now that you know Tennyson’s story, you know that she was born really small. She was small because she was growth restricted. She was growth restricted because there were blood clots in the placenta. There were blood clots in the placenta most likely because of a gene mutation I have that was found months after her birth.

You have probably never heard of it, but some of you may have. The MTHFR (Methylene Tetrahydrafolate Reductase) gene helps the body breakdown and absorb folic acid and vitamin B. When a person has the gene mutation, the body may not produce the enzyme that breaks down and helps absorb those essential nutrients properly. I am a homozygous carrier of the MTHFR, meaning both copies of my gene are “mutated”.

Most of the time, women only find out they have it because they are unable to conceive or carry a pregnancy to term. In my case, I have been told it could be a relatively easy fix. I take a folic acid supplement. The idea is that if I take 10 times more folic acid that my body will hopefully absorb the proper amount like someone without the gene mutation.

So, what does this have to do with Tennyson?

Since I have 2 gene mutations, I know I have passed one of those on to Tennyson.

Less than a month ago, I came across a condition called Cerebral Folate Deficiency. As I was reading about it, a lot of the symptoms were similar to Tennyson’s. Her head slowed in growth at around 3-4 months of age. Her gross motor skills stalled at 5 months of age (and have remained there). She has delayed speech, she has irritable sleep, she started having seizures. She has spasticity in her muscles, but overall has low muscle tone. These are all symptomatic of CFD.

It was like I was reading about Tennyson in this medical article. I asked my husband to read it and he agreed. We both know all of Tennyson's symptoms can be attributed to cerebral palsy and the lack of oxygen and blood she suffered in utero or in the hours leading up to her birth. Some can also be attributed, however, to insufficient folic acid.

So I printed off my articles and underlined in RED every single thing that was similar between Tennyson and CFD.  I made an appointment with our neurology team. I rehearsed what I would say to them so they didn’t think I was a crazy mom who wanted her daughter tested for random conditions she found on the internet. I didn’t need to fight though! They thought it sounded reasonable to test her for it. Our neurology nurse practicioner pulled in a few other neurologists and did an exam. They went back and looked through old labwork and found indicators that she might have this deficiency.

I am glad I didn’t ignore how similar her symptoms were to this condition. I am not saying she has Cerebral Folate Deficiency. I am saying I have to be her advocate and find out if she does. It is my job to make sure she has all the tools she needs to reach her full potential – whatever that may be.  

The only way to test for CFD is through a lumbar puncture (drawing spinal fluid). The gene mutation can impair transport of folate from the blood to the brain. So brain levels of folate can be low, even if blood levels of folate are not.

That’s why we were at the hospital this morning. She had spinal fluid drawn and it will be tested. The team that was with her this morning said it couldn’t have gone better. I was only in the waiting room for about 10 minutes when they came out to tell me she was finished. The longest part was waiting for her to wake up from the anesthesia. Now, we have to wait two whole weeks before we know the results. I’m not going to lie, if she does have CFD, I will be pretty excited. If she doesn’t, it’s just one more thing we will know she doesn’t have. So I’m looking at it as a win-win situation. No disappointment.

Tennyson sleeping after her lumbar puncture

I want her to have this condition. I have been praying and praying and praying she has this! Why? Because it can be treated! Children with CFD that are given folinic acid (not folic acid) have made dramatic improvements within as little as a week of treatment beginning. Seizures can stop. Muscle tone can regulate. Speech and motor skills can progress. It would be pretty darn cool to see dramatic progress. As long as CFD is caught before the age of six, symptoms can reverse. After age 6, most kids do not have improvement with treatment.

I also want to share that this information might be helpful for people with children on the Autism spectrum. A lot of my reading on CFD talked about autism. This very recent article I found states that more children with autism spectrum disorders might actually have CFD. With proper diagnosis  of CFD and treatment, some children “showed  improvements  in seizures, attention, motor skills, neurological abnormalities, verbalizations, perseverative behavior, restricted interests, and social interaction in some children with autism.”

I hope this helps someone. Even if Tennyson doesn’t have it, it’s just another reminder that as parents we should always be the best advocates for our children.

e-mail me at tennsense@gmail.com with any feedback. I read it all.

Amy