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.
17 Comments
10/25/2015 05:27:57 pm
I truly believe your persistence will bring good things for Curren and all of your family! Sweet little Curren is so fortunate to have you for his Mom and I am equally privledged to have you in any part of my life. Sending you hugs, love and support!
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Nerissa Ramsey
11/12/2015 08:16:03 pm
Thank you Jeanna. Curren and I are both incredibly lucky to have you in our lives. Thank you for always being there, for anything, anytime. You are a phenomenal soul! Forever grateful for decades of support and guidance, xoxoxoxox
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Linda Esslinger
10/25/2015 05:49:35 pm
My dear Nerissa,
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Nerissa Ramsey
11/12/2015 08:33:22 pm
Linda, what a fantastic and unexpected and blessed surprise! Oh my goodness, it has been too long! My heart is heavy right now, but full at the same time. We have made some magnificent medical progress over the past month. We are planning a trip to Baltimore, and possibly Philadelphia the first week of January to see the best of the best. Are you nearby? If so, we couldn't plan a trip so close to you and not come by to visit. Please email me if you have a chance! [email protected]
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Mike Merrifield
10/25/2015 06:15:41 pm
Beautiful blog Nerissa. You and Barry are doing all the right things by keeping him active and present each day and showing him how much he is loved. He looked so good last night! He was so happy and enjoying all that was around him. Your heartfelt outreach to anyone and everyone that will listen is fantastic and your persistence will open a path that will result in answers and strategies that will help Curren and his family on this journey. I believe there are likely many others like Curren that are not identified because of the roadblocks and barriers of our current insurance/medical debacle in this country. I will do my part as well to pass Curren's information along to any and all avenues that might yield some interest. Best wishes. Mike
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Nerissa Ramsey
11/12/2015 08:41:35 pm
Thank you Mike for your incredible support, now and always (past, present, and future!). We are on a path now, and (as crazy as it is, i think) we are going places. Thank you so much for your help at the very beginning of this journey, as I tried to wrap my brain around this unfamiliar world. Your clarity and calmness in this new, wild world helped keep me centered and grounded. Thank you for everything you have done for me and my family (again) now and always. The world is so fortunate to have people like you.
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Mary Lois Lee
10/25/2015 06:40:58 pm
What a fortunate little boy to have such loving, caring parents. He always looks so happy.
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Dee Merrifield
10/25/2015 07:42:38 pm
Narissa - Although I haven't seen you since our trip to NYC, when you were pregnant with Curran, I feel deeply for what you are facing with your precious little one. I will try to make contact with Children's Hospital here in St. Louis to see if there is anyone with knowledge of Curran's condition. As someone said, Curran is so fortunate to have parents that will tirelessly try to find ways to help him. God bless you and give you strength along with your courage.
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Nerissa Ramsey
11/12/2015 08:44:57 pm
Thank you Mary Lois, he is such a happy, beautiful soul! I love him with absolutely all of my heart, and I will love him forever for everything that he is. I loved him from the second I saw him, and I will rearrange my life to do everything I can to allow this baby to be everything he can be in life. xoxoxo
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Chris Givens
10/25/2015 07:41:02 pm
Nerissa, what an incredible mother you are! There is always hope, and you have such a strong family and friends network. I will share your story in the hope that it will benefit Curren. Thank you for sharing this journey with us.
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Nerissa Ramsey
11/12/2015 08:53:31 pm
Mrs G! Your words of hope and inspiration have really stuck with me over the past few weeks! I am trying my very best, to be the best, and do the very best for my son. I have hope, and we are working so hard to find the very best doctors. No matter what, I have my incredible, amazing, warrior son (who loves music, by the way!) I can't ask for anything else. Thank you for your wonderful thoughts and words of encouragement.
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Emily
10/26/2015 11:38:39 am
Hello my son also had a very rare genetic disorder. He struggled with a lot of the same issues and would love to give you some parent insight. Please feel free to email me and we can talk or I can just be someone to listen that understands you daily struggles.
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Nerissa Ramsey
11/12/2015 09:05:32 pm
Emily, thank you so much for reaching out to me! Please feel free to email me at [email protected] - I would love to catch up with you!
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Jeff
10/27/2015 08:31:57 pm
Hi,
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Nerissa Ramsey
11/12/2015 09:09:18 pm
Jeff, oh my goodness, thank you! I have followed up on this lead, and we actually have an appointment with Dr Naidu now in January. I am so excited to meet with the doctors that have contributed to research specific to my son's genetic mutation. Who knows what the future holds! Thank you so so much for your research and information you shared! :)
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Carolyn Rodon
11/3/2015 08:40:17 am
To my beautiful & dear friend Nerissa,
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Nerissa Ramsey
11/12/2015 09:16:58 pm
Carolyn, oh my goodness, it is so good to hear from you. Deepest congratulations on your great news. Motherhood is the very most rewarding job in life! Thank you so much for your kind words. We are actually waiting to hear back from Boston's Childrens. They will be reviewing Curren's case tomorrow (fingers crossed). I am hoping with every inch of my body that we are accepted into their program, it sounds incredible and individualized and so very thorough. They said if we are accepted, we can be seen in March. I will definitely let you know if we will be heading your way (lets hope so!)
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About MeI 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. Categories
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