{"id":58656,"date":"2015-11-09T19:21:03","date_gmt":"2015-11-10T00:21:03","guid":{"rendered":"https:\/\/rarediseases.org\/giving-spotlight-parents-thank-nord-for-saving-daughters-life\/"},"modified":"2022-12-01T11:56:55","modified_gmt":"2022-12-01T16:56:55","slug":"giving-spotlight-parents-thank-nord-for-saving-daughters-life","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/giving-spotlight-parents-thank-nord-for-saving-daughters-life\/","title":{"rendered":"Giving Spotlight: Parents Thank NORD for Saving Daughter\u2019s Life"},"content":{"rendered":"

Laurie and Chuck Eallonardo were thrilled at the birth of their twins, Jenna and Caden. Laurie felt happy and relieved that she had been able to carry them for 38 weeks, almost to full term, which can be harder with twins.<\/p>\n

\"Caden<\/a>
Jenna and her twin brother, Caden<\/figcaption><\/figure>\n

\u201cOne afternoon, during a normal feeding time with 5-month-old Jenna, she suddenly shrugged her shoulders and rolled her eyes up. It wasn\u2019t a big jolt, and could have easily been overlooked, but my gut told me something wasn\u2019t right,\u201d said Laurie.<\/p>\n

Over time, Jenna\u2019s erratic movements occurred more often. She began having episodes of bending forward and clenching her body repeatedly. Jenna would cry inconsolably for hours at a time and nothing her parents tried seemed to help. After several weeks, she completely stopped playing and lost her smile and ability to laugh.<\/p>\n

\u201cWe were desperate to figure out what was wrong. Finally, an EEG confirmed she was having seizures. We had no idea at that time that using typical seizure medicines would have no effect on Jenna. We also did not realize how neurologically devastating her type of seizures could be,\u201d said Laurie and Chuck.<\/p>\n

After months wasted on an ineffective treatment, the Children’s Hospital of Los Angeles doctors diagnosed her with Infantile Spasms. Infantile Spasms are a catastrophic age-specific epilepsy syndrome that has its onset within the first 12 months of life, with most cases appearing between 3 and 7 months of age. Jenna had more than 100 seizures per day. \u00a0This number is common with the condition, according to NORD’s Physician Guide to Infantile Spams, written with Cristina Y. Go, MD, and O. Carter Snead III, MD, FAAN.\u00a0 Jenna\u2019s parents remember being horrified when they learned this, and that some of Jenna\u2019s leg twitches, which had seemed like normal behavior for a newborn baby, were actually part of her seizures.<\/p>\n

\"IMG_1220\"<\/a><\/p>\n

Because of the constant seizures that may be impossible to stop, most children with this disorder often have poor development and intellectual disability.<\/p>\n

After receiving the diagnosis, Jenna got the only approved treatment available at the time, adrenocorticotropic hormone (ACTH). The cost was partly covered by NORD through its Patient Assistance Programs. \u00a0\u201cNORD got the ACTH medication to us immediately while our medical group needed more time to authorize and figure it out. \u00a0We didn\u2019t have an extra minute to waste,\u201d Laurie said.<\/span><\/p>\n

“We knew within five days it worked,” Laurie recalls. The seizures stopped and Jenna had her first smile since they had begun.<\/p>\n

ACTH creates high dose steroids in the body and acts as an immune modulator. Jenna experienced many of the side effects in order to stop the devastating seizures including high blood pressure, sleep disruption, increased appetite and severe irritability.<\/p>\n

\u201cThe ACTH treatments were ultimately a miracle cure for Jenna. After four long months of severe and frequent seizures, Jenna became seizure free [and] to this day our family celebrates the anniversary of Jenna\u2019s \u2018Happy Day\u2019,\u201d said Laurie.<\/p>\n

Laurie and Chuck made a donation to NORD, a 501(c)(3) charity, as a thank you. Laurie and her family are very grateful to NORD for providing medication to them, total strangers.<\/p>\n

\u201cYour organization helped save our daughter’s life when she was a baby. Jenna had severe Infantile Spasms (catastrophic seizures) for four months. NORD paid for the ACTH medication – the injections stopped her seizures.\u201d<\/p>\n

Laurie wants others to know that that timely intervention is so important: \u00a0 \u201cI worked as an Occupational Therapist and I had never heard of Infantile Spasms.\u00a0 If parents don\u2019t know to get help immediately, their child\u2019s quality of life and development will quickly diminish,\u201d she added.<\/p>\n

\"Jenna<\/a><\/p>\n

Continuing, Laurie said, \u201cWe can’t thank you enough and we are enthusiastic about sharing her miraculous story. You may be interested to know that\u00a0Jenna\u00a0is also extremely unique with some genetic findings.\u00a0 She has a partial duplication on a couple chromosomes and may be the only one in the database to have both those duplications.\u00a0 The amazing thing is she does not present like the other few examples we have.\u00a0 She is such a mystery and quite a determined, enthusiastic girl.\u201d<\/p>\n

\u201cJenna\u2019s story [is] really is beyond belief.\u00a0 I want the staff, volunteers, and supporters of NORD to know how critical and life-altering your organization is,\u201d she said.<\/p>\n

Following treatment, the family started intensive early intervention services, and it took more than a year for her to gain some basic social, motor and language skills.<\/p>\n

She first spoke at the age of 2 \u00bd and with years of medication and therapy, she has overcome massive delays. She is now an outgoing student who shines, has starred in her school play, and loves to dance, sing, and play with friends.<\/p>\n

Her neurologist, Dr. Pantea Sharifi Hannauer (UCLA & Pediatric Minds Early Childhood Treatment Center, or ECTC, in Torrance, Calif.) has said that she has never seen an\u00a0infantile\u00a0spasms\u00a0patient turn out this well.<\/p>\n

Her parents say, \u201c\u201cWe will never take for granted her abilities, relationships and joy in life!\u201d<\/p>\n

\"Jenna<\/a><\/p>\n

“She’s ahead in spelling and reading,” beams Laurie. “I’m in tears when I see her play or speak.”<\/p>\n

Laurie invites families to contact her at 310-213-8298 and lauriela1@verizon.net<\/a>.<\/em><\/p>\n

If you are interested in making a gift to NORD or in honor of a loved one, please visit our Ways to Donate<\/a> page or contact Ahleum Morris, amorris@rarediseases.org<\/a>.<\/em><\/p>\n

 <\/p>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

Laurie and Chuck Eallonardo were thrilled at the birth of their twins, Jenna and Caden. Laurie felt happy and relieved that she had been able to carry them for 38 … <\/p>\n

Continue reading “Giving Spotlight: Parents Thank NORD for Saving Daughter\u2019s Life”<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":12043,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","_price":"","_stock":"","_tribe_ticket_header":"","_tribe_default_ticket_provider":"","_tribe_ticket_capacity":"","_ticket_start_date":"","_ticket_end_date":"","_tribe_ticket_show_description":"","_tribe_ticket_show_not_going":false,"_tribe_ticket_use_global_stock":"","_tribe_ticket_global_stock_level":"","_global_stock_mode":"","_global_stock_cap":"","_tribe_rsvp_for_event":"","_tribe_ticket_going_count":"","_tribe_ticket_not_going_count":"","_tribe_tickets_list":"[]","_tribe_ticket_has_attendee_info_fields":false,"footnotes":""},"categories":[190,662,505],"tags":[841,847,715,843,840,723,838,844,814,846,845,842,839],"class_list":["post-58656","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-featured-news","category-get-involved","category-patient-stories","tag-childrens-hospital-of-los-angeles","tag-cristina-y-go-md","tag-donate","tag-dr-pantea-sharifi-hannauer","tag-eallonardo-family","tag-giving-spotlight","tag-infantile-spasms","tag-nord-patient-assistance-program","tag-nord-physician-guides","tag-o-carter-snead-iii-md-faan","tag-pediatric-minds-early-childhood-treatment-center","tag-twins","tag-ucla"],"acf":[],"_links":{"self":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/58656","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/comments?post=58656"}],"version-history":[{"count":0,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/58656\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media\/12043"}],"wp:attachment":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media?parent=58656"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/categories?post=58656"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/tags?post=58656"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}