This past week, we received information about Curren that is both hopeful and heartbreaking at the same time. My very first post touched on my anxiety over the unknown, and with this information now comes a whole new level of anxiety. Curren’s Whole Exome Sequencing genetic testing results came in, after over 4 months of (very anxiously) waiting. The test was denied by insurance, on the premise that it wasn’t medically necessary. Whole Exome Sequencing typically has about a 25% chance of providing meaningful results, and in our case, we were told it would be closer to 35%, due Curren’s severe developmental delays. Since the coverage was denied by insurance, I didn’t expect to get the results. And even if it were to be analyzed, the odds were greater than not of getting useful information back….and yet somehow we did.
We found out that Curren has a variant (D397Y) in his HIVEP2 gene that is most likely causing severe developmental delays and chronic medical problems. It is incredibly rare – according to GeneDx there are only 3 others in the world that are currently known to have a HIVEP2 variant, and each of these individuals have unique variants. The clinical features of HIVEP2 mutations are moderate to severe intellectual disability, developmental delay, autism spectrum disorder, easy fatigability, and hypotonia (low muscle tone). The HIVEP2 gene's function is very complex - it is responsible for regulating the activity of about 25 different genes that control brain growth and development. My son’s variant is predicted to be damaging to DNA structure and function, resulting in loss of function in the brain. Other functions that seem to be affected are cell immunity, brain signaling pathways, pituitary hormone production, bone remodeling, and memory. All of this from one misspelling in a series of 2446 amino acids, in one gene of over 20,000. It is just a tiny mistake in the grand context of things, but so significant to the overall function of the brain.
There have been recent lab studies on mice where the HIVEP2 gene has been made inoperative, and the results were brain inflammation, memory deficits, and hyperactivity. The mice were treated with anti-inflammatories and other trial medications and some of their neurological features improved. I have hope that therapeutic options like these may eventually become available for Curren.
Curren is now two years old, and has many severe deficits. He is not able to yet crawl, speak words, or communicate through signing, gestures, or pointing. He has been sick for more of his life than not - I tallied up the courses of antibiotics he has been on, and it has been 17 times in 25 months of life. He is in the 1st percentile for height, 3rd percentile for weight, and 7th percentile for head circumference, despite a modified high-calorie/high-fat/high-protein diet. He is in 8 hours of therapy weekly, attends an early intervention preschool part-time, and his daddy now stays home with him to do lots of one-on-one work and bring him to all his appointments.
Above all else, my most important job in life right now is to be Curren’s voice. I want the world to know just how important my son’s development is. It is heartbreaking to see him master a simple skill (like waving a month ago) and then lose it. As incredible as it was that he crawled on his hands and knees with assistance a few weeks ago (accomplishments!), he has not been able to do it again since. My hope is that our therapeutic options don't end here. With the new information we now have, I want my son to have the opportunity to see doctors and researchers that have an interest in pursuing management and treatment options tailored to his unique challenges. I know that there are (incredibly smart) people in this world that would be very interested in researching this further, we just need to find them!
If you are reading this post, could you please help Curren and share this information with the world? My biggest hope right now is that his information will somehow fall into the hands of the right person. We are willing to travel anywhere to find someone interested in helping my son overcome/manage his biological barriers. Thank you all so much from the very bottom of my heart.
My sister asked me for recent pictures of my boys the other night for a project she's doing, and I came to an awful realization - while I have hundreds of recent cute pictures of Curren, I have less than a handful of Weston. Granted he is in the funny-face phase of photo taking right now and I don't get many good photo opportunities with him, but it got me thinking about how much Weston's life has changed since Curren was born,
I remember being pregnant with Curren and wondering how in the world was I going to have enough love for two children? I already loved Weston with all my heart, and how would I be able to split that in half and make it enough? And somehow it happens - your heart grows and grows, and holds an insane amount of love for your little munchkins. I love my boys equally, but unfortunately I don't get to spend equal time and effort with them. Because Curren doesn't have abilities equal to his brother, it is the unfortunate reality.
I know that it's tough to be a sibling of a child with special needs, but it's also incredibly rewarding. Weston has learned to be caring, compassionate, and patient at a very young age. He sees our family make sacrifices and provide constant dedication to help Curren be his personal best, and that determination becomes ingrained in him. He has formed a special bond with his brother that no other person has, and will always be significant and influential to Curren. Weston has loved his brother from the moment he laid eyes on him in the hospital, where his destiny was determined. He has an important role, he will love and care for his brother over the coarse of his entire lifetime.
To my first son, Weston, I want you to know how much you mean to our family. You are Curren's biggest cheerleader. You are so sweet and thoughtful every day, whether it's trying to make Curren laugh, giving him kisses, bringing him toys he can't reach, racing in to his room in the morning to catch him sleeping before he wakes up, or just being the fabulous big brother that you are. We are blessed to have such an incredible soul, and to call you ours.
Last week, we had a follow up appointment with the newest addition to our medical team, a research-based biomedical/metabolic doctor based out of California who spends one week out of the month at an office a few miles from our house (what are the odds?) We reviewed the results of over a dozen recent tests, and discussed how Curren’s new supplements are going. Over the past month, I have learned so much about the metabolic and mitochondrial process, and some possible dysfunctions that Curren may have. I am absolutely not a medical professional, but I wanted to share some of the high level conversations we had in hopes that they may help others who are looking for answers. If you find anything of interest here, please run it by your doctor before trying anything (and these supplements are pretty far off the beaten path).
As a quick refresh to high school biology class, the function of mitochondria is to provide energy to your body at the molecular level. When your body doesn’t provide energy to cells effectively, it negatively affects your organs (particularly the ones that require the most energy, like your brain, GI tract, and immune system). Curren’s lab results show several markers for mitochondrial dysfunction, primarily based on elevated levels of multiple short-chain fatty acids. There are several supplements that Curren has been taking, in hopes of offsetting some of his metabolic abnormalities. We started the typical “mito cocktail” about a year ago - Carnitine, CoQ10, Probiotics, Coconut Oil, and Fish Oil - and have recently added some less common supplements to the mix.
Curren tested positive a variant of both copies of his MTHFR gene, who’s role is to provide instructions for making an enzyme that plays a primary role in processing amino acids. Our new doctor says that Curren’s double A1298C mutation causes a reduced ability to convert folic acid into an active form. Activated folate is required for the creation of every cell in your body, so you can imagine that it’s not good if the efficiency of that process is impaired. Folinic Acid provides Curren with the activated form of folate, without having to metabolize it. Folinic Acid is the primary treatment for Cerebral Folate Deficiency, a disorder that develops from a shortage of folate in the brain. Symptoms include the loss of previously acquired skills, intellectual disabilities, speech difficulties, seizures, and slow growth. Cerebral Folate Deficiency is being increasingly recognized to affect some children with Autism, Down Syndrome, Rhett Syndrome, and other metabolic and mitochondrial disorders, as noted in the medical publication below:
There are several issues related to our food sources that can inhibit cerebral folate absorption. Our human folate receptors sometimes react with folate receptors in cow and goat milk, creating a cerebral absorption blockage. Also, synthetic folic acid (which is unmetabolized and often found in foods “fortified” with folic acid) can compete with natural folates and cause problems. We are hoping that the folinic acid Curren is taking will provide metabolized folate to his brain, and hopefully normalize the seizure-like brain activity that was found on his EEGs over the summer.
Similar to the Folinic Acid, Methylcobalamin is the active form of vitamin B12 (the body does not need to convert it to a usable form). Methelcobalamin increases available physical energy, encourages detox, and supports brain and nerve health. Vitamin B12 is one of the most difficult vitamins for the body to absorb, so providing a large dose injected directly into fat gives your body the best opportunity for absorption and provides a slow release into the tissues . Methyl-B12 is water based, so any unabsorbed portion is filtered through the kidneys into the urine for removal from the body. Vitamin B12 works closely with folate (B9), so the two supplements together provide additional benefit. We have noticed almost immediate results from the B12 injections - the day that Curren crawled with assistance last week was the morning after an injection. The following day at therapy he didn’t try to crawl again, and we are curious if that was due to the effects of the injection wearing off. The injections are super easy (although I was pretty reluctant to sign up for this). The doctor gave us a prescription for a numbing cream, and we just do a little poke in his sleep and (now that we’ve had a few practice runs) he sleeps right through it.
I had never heard of low cholesterol being bad until last week. There are studies that show deficiencies in cholesterol as a common factor in children with Autism. The brain is the most cholesterol rich organ in the body, and cholesterol plays a very important role in brain function. Studies show that cholesterol promotes neurogenesis (the birth of new brain cells) and communication between neurons, and functions as a protective antioxidant for the brain. This is probably why there are stories about drugs commonly prescribed to lower cholesterol producing dementia-like effects in patients. Curren’s cholesterol levels are low, and we have started him on a cholesterol supplement. He most likely has a cholesterol absorption issue, since we already feed him lots of fish oil, coconut oil, grassfed organic butter, cheese, eggs, and whole milk. Reference the link below for an interesting read on the role of cholesterol in Autism treatment:
We are looking forward to positive effects these new supplements may have on Curren over the upcoming months. He seems to be tolerating everything well, with minimal side effects. We are grateful for the recent insight we were given, and are happy to find a doctor who is open to providing a treatment plan for our son.
Tonight I wanted to share about an awesome group we stumbled upon a while back called "I Run 4 Michael". The idea is that this wonderful group pairs runners (or any other active varieties) with buddies that may not be able to run due to physical or developmental limitations. The result is a relationship between two complete strangers that fosters encouragement and support. It's a pretty incredible idea. I Run 4 Michael is a non-profit organization founded in January 2013 by Tim Boyle, who was inspired to run for more than health and weight-loss:
“I run because I can. When I get tired, I remember those who can’t run, what they would give to have this simple gift I take for granted, and I run harder for them.”
Curren was matched with a runner (she does runs, but her preferred type of workout is boxing) about 6 months ago. We keep in touch through posts on the I Run 4 facebook page, and support each other through private messages. While we have very different lives, it's really great to connect with someone completely outside of my "village". Sometimes it's really hard to talk about struggles with people you are close with, especially if they can't completely relate. This group is such a nice way to connect with new people and provide an unexpected source of inspiration to everyone involved. We love our boxer, Angi, and her sweet family - and are so grateful for the supportive relationship I Run 4 has created for us.
I Run 4 has become wildly popular, with over 35,000 facebook group members. I checked this week's waiting list, and there are 2,403 runners waiting to be matched with a buddy (how awesome is that!) So as you can imagine, there is a strong need for buddies. For anyone interested (runners or buddies), it's super easy to sign up through an online registration form at the link below. It is such a beautiful group - we love the match we were given, and are so grateful to be a part of this wonderful online community!
Curren was spectacular at therapy today. There have been days that we have questioned if our intensive efforts are paying off, but today was not one of those days. And I have to say that Curren's therapists are truly spectacular, too. His physical therapist actually made him a unique suit that resembles a TheraTogs wearble therapy garment from neoprene and strong velcro straps. The suit promotes trunk and joint stability, provides sensory input, and corrects alignment and posture. And he took off with it! Curren crawled reciprocally with minimal prompting and support for the first time, and he went about 6 feet! I am disappointed that I missed it, but am so thrilled that dad was there to cheer him on!
Curren's Monday's are really action packed. He has speech therapy at 8:00, where he works on feeding skills, receptive language skills, and expressive communication through speech, signing, gestures, and imitation. At 9:00 he goes to occupational therapy, where he focuses on fine motor, gross motor, and visual motor development. He also does lots of sensory integration exercises, such as listening therapy, spio compression suit therapy, therapeutic brushing, and joint compressions. And at 10:00, he ends the morning with physical therapy, where he's been kneeling, rolling, army crawling, and working on mobility with adaptive equipment.
Therapy is such a critical part of Curren's daily routine. We learn so much from his therapists, and replicate their work at home. We receive therapy through Early Steps, Florida's Early Intervention Program and are so grateful for the services he receives.
Early Steps is Florida's Early Intervention system that offers services to eligible infants and toddlers (birth to 3 years old) with significant delays or a condition likely to result in a developmental delay. Early Intervention is provided to support families and caregivers in developing the competence and confidence to help their child learn and develop. If you are interested in learning more about your state's Early Intervention Program, please check out the link below and search for your state:
I have been living with anxiety off and on over the past year and a half. I am not an "anxious" person, aside from the occasional butterflies in my stomach when I speak to a crowd. And I don't know that anyone that sees me on a regular basis would believe me if I told them that I've got some pretty extreme anxiety right now. This is the keeps-you-from-sleeping, feels-like-you're-hanging-on-by-a thread, body-is-aching-from-being-tense type of anxiety. It has been slowly building and comes and goes, but has pretty much culminated into the perfect storm over the past few weeks. My mind does not really ever rest. As a mother of a young child with undiagnosed medical and developmental complications, I can't stop searching for information in hopes of improving my son's situation, to the point of obsession. This has absolutely nothing to do with anything in my life, other than the helplessness I feel about our lack of medical progress over the past year and a half. It is a pretty awful downward spiral of a place to be.
We are 4 months into our wait for Whole Exome Sequencing genetic test results. The Whole Exome Sequencing is basically the mac daddy of genetic testing - it looks at over 20,000 genes within the human genome, where 85% of mutations known to cause diseases reside. I would be slightly less anxious had Cigna not denied the claim, on the premise that it is not medically necessary (separate rant...) I was told by a very unhappy and pretty uncertain-sounding woman from the genetics lab a few months back that as far as she knew, they were still moving forward with the analysis despite the insurance denial. The original anticipated wait time was 3-4 months, so I have been rather obsessively checking my email hoping to receive some type of news about the results or coverage. My fear is that we are losing months and months of time, under the assumption that the test is moving forward, when in fact is isn't.
We are also recently receiving piece-meal lab results ordered from a new biomedical doctor that saw Curren about 3 weeks ago. Some of the results indicate the possibility of specific abnormal metabolic conditions, which I of coarse googled and shouldn't have, as these specific abnormal metabolic conditions sometimes result in premature death. I know that the remainder of the outstanding lab results were reported to the doctor last Thursday (I called Quest) and so now I am rationalizing in my head the various reasons why the doctor hasn't given us the results yet. This, too, is adding to my anxiety.
And back in July, we had two EEG tests performed, both with abnormal results. Unfortunately Nemours did not give me much information about the results or what they might mean, so I have turned to Dr Google after requesting the written copies of the reports, which describes potential epileptogenic activity, possibility of underlying structural or metabolic abnormality, suggested lowered seizure threshold in left occipital, field spreading into right occipital and left posterior temporal area, careful clinical correlation is recommended, etc. I was hoping last week to gain more insight as to what these reports may mean at our routine follow up with one of Curren's Neourologists who's niche is epilepsy ("Epilepsy Center" is in the practice's name), but unfortunately he didn't offer anything remotely helpful. I have been anxious about what this doctor may say about the EEG reports for weeks now, and him providing no insight has added to my anxiety.
After getting nowhere with the local Neurologist, I called Nemours to schedule another appointment with Neurology so I can talk directly to the doctors who analyzed the EEGs and discuss the things in the reports that were never conveyed to me. It has been 5 days now since I left my message to request an appointment (at which point they reminded me that we weren't due for another appointment until January) and I have nothing. I emailed them asking to expedite the schedule request due to my concerns about my son's recent regressions and I have nothing. This is adding to my anxiety.
As we start to hone in on possible causes of my son's difficulties, I wonder if we really should be pushing so hard for these answers. What if it's not something I want to hear? What if this journey consumes me and I lose sight of the present? I wouldn't be able to live with myself if there were interventions that could make a difference and I didn't push hard enough to find them, but what if the road to get there honestly compromises our quality of life?
My current experience is applicable to all parents, and all life situations. Don't let your fear of the unknown rob you of your joy of the present. Enjoy each beautiful moment of life that you are blessed with, and savor those moments. Soak your babies up and don't let your fears shadow their triumphs.
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I am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life.