The following article was originally published in 2013. It has been updated by the author, Joy Gonyea-Robertson. This year’s fundraising auction opened Nov. 26 and will continue through Cyber Monday Nov. 30.
When the doctors first told us there was a serious problem with our baby, we found ourselves paralyzed. Filled with a heart-wrenching ache, we could not muster the strength to ask if she we would live or die. Finally, courage surfaced. We had to know, “What do you mean something is wrong with our baby?” As parents, we already knew the answer would undoubtedly change our lives forever. What we didn’t know, was that our baby’s diagnosis of Jacobsen’s Syndrome would not only present more questions than answers for our family, but for the medical community as well. This is the story of how that journey miraculously began.
Our daughter, Kailani Hope, is a playful, curious, affectionate, and determined, bright-eyed 4-and-a-half year old. She was given the middle name Hope after a serious congenital abnormality was detected prenatally. The doctors forewarned us she would need open heart surgery immediately after delivery in order to correct the life threatening defect. The thought of possibly losing our baby mere hours after birth was beyond devastating. It goes without saying that we found ourselves relieved when her medical team informed us that instead of surgery, her heart was stable enough to transfer to the Neonatal Intensive Care Unit at the University of Washington for observation. During that time, Kailani’s predisposition toward determination (a family trait) shined through as her heart began to naturally correct itself, dumbfounding specialists, and filling her parents with overwhelming hope for her future.
During her first week of life in the NICU, Kailani was deemed the “miracle baby,” because of the surprising transformation in her heart. We were relieved by her marked recovery and overjoyed when the time came for us to return home with our new baby. Shortly thereafter, we received an abrupt call that did indeed change our lives forever. Genetic testing revealed Kailani’s heart defect was caused by a rare chromosome disorder called Jacobsen’s Syndrome, which is attributed to an abnormality of the 11th chromosome. Also known as 11q, Jacobsen’s Syndrome is a newly recognized condition that affects about 1 in every 100,000 births. Although as of 2012 just 200 cases been reported worldwide, researchers suspect that number will drastically grow alongside awareness of the syndrome, as well as the developments and use of genetic testing.
Many 11q kids have very serious medical complications. The list is daunting and ranges from congenital heart disease, low platelet count and bleeding disorders, growth hormone deficiencies, kidney problems, serious immunological deficits and recurrent infections (as well as correlations with autism spectrum, ADHD, epilepsy and leukemia). Kailani requires monitoring by a dozen specialists at Children’s Hospital. To date, Kailani is one of the only children with Jacobsen’s that has not undergone multiple surgeries. Thus, as Kailani’s parents, our greatest fear rests in the knowing of how fragile our daughter’s existence might be. For the children like Kailani who manage to survive their congenital heart defects, many remain vulnerable to immune deficiencies. Whereas, something as simple as a common cold can end one of these precious little children’s life. We were recently forced to face this stark reality.
With the support of our community and the 11q Resource and Research Group, in the summer of 2014 we attended the biennial 11q Conference in San Diego. One of the greatest impacts has been seeing the memorial tables filled with pictures of all the children with Jacobsen’s Syndrome who had died since the previous conference. Loss of life was primarily attributed to heart and immune disorders, and with one exception, these children were all under the age of 2 (with the exception of one young adult since life expectancy does not exceed mid-30s). When Kailani surpassed that milestone it was an incredible relief.
Now that she is 4-and-a-half years old, we are incredibly grateful that our daughter has beat the odds. Her spirited zest for life often inspires others to live more fully with gratitude and without taking precious moments for granted.
Kailani continues to be the happiest, most fun-loving child and we cant imagine life without her. She may have beat the odds so far, but as her parents, knowing there always remains a possibility that her condition could cause this budding little life to come to a sudden end, well it’s a traumatizing thought. Yet, hope remains that with further knowledge stemming from research developments, medical advances can ease our fears along with 11q families of future generations. Of course, that requires funding, and the support of people like you and me.
Given the rarity of chromosomal disorders, particularly Jacobsen’s Syndrome, much remains unknown and funding is difficult to obtain. Dr. Paul Grossfeld at UC San Diego Medical Center, an advocate for 11q kids, is spearheading research that directly benefits our daughter and others with chromosomal abnormalities, as well as those with congenital heart defects, autism, and Alzheimer’s disease. In previous years, much of the labs expenses were covered by fundraisers that included the entire cast of “How I Met Your Mother.” One of the shows screenwriters has been impacted by a child with Jacobsen Syndrome in his own family and therefore championed keeping the research afloat. However, with the show ending funding has become a big issue, because it is challenging to access grants for rare disorders. In the years ahead, many members of the 11q Research and Resource group, primarily made up of parents and family members of children with Jacobsen’s Syndrome, have vowed to raise at least $5,000 to support the ongoing work at UCSD Pediatric Cardiology Center. The lab run by Dr. Grossfeld is the only research of its kind being conducted and with the promise of funding to continue has the potential to create treatments that have the potential to drastically change and even save many lives.
We as parents are doing all that we can to ensure that this happens, and we invite you to do the same. If you have been moved or even inspired by Kailani’s story and her friends with 11q, we ask that you join us in advocating for children with unique differences. The following are several steps you can take to make a direct impact:
Consider showing your support by liking our Facebook page Holiday Hope for 11q online auction. We also invite you to join our Facebook group Holiday Hope for 11q: Auction & Sale.
Here you can shop and bid on discounted gift certificates, gift baskets, local services and other goods contributed by a lengthy list of Edmonds businesses. The online auction opened on Nov. 26 and will continue through Cyber Monday Nov. 30. If you are a business or artisan yourself, please consider donating a service or product to our current or future auctions and receive a tax deduction. All auction proceeds benefit research and medical-related expenses for families with Jacobsen Syndrome through the 11q Research & Resource Group. For more information about 11q go to the 11q Research & Resource Group website at www.11qusa.org. To make a donation contact Joy Gonyea-Robertson, the NW 11q Research & Resource Group Regional Representative at [email protected].
– Consider contributing a tax-deductible gift to UC San Diego’s Pediatric Cardiology Jacobsen Syndrome Research and/or support the 11q Medical Conference, research and funding for families through conference scholarships and more by giving to the 11q Resource and Research Group. Please direct any medical inquiries to Dr. Paul Grossfeld: [email protected].
– Encourage awareness and acceptance for children with unique differences. This begins at home by educating typically developing kids about inclusivity and the value of difference in our community, as well as befriending families with children of varying abilities and differences. You can learn more about teaching disability awareness and etiquette to children here.
If you are the parent of a child with special needs, consider joining a support group. It can be a difficult journey that you don’t have to travel alone. For support, contact Seattle Children’s Hospital Family Resource Center, or request to join our confidential local online support group The Special Needs Mama (& Dads) Facebook page.
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Joy Gonyea-Robertson lives in Edmonds with her husband Dean Robertson and their two children, Makai and Kailani.