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