A Woodway baby’s rare diagnosis — and how you can help

Kailani Hope (Photo by John Crozier)

By Joy Gonyea-Robertson and Dean Robertson

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 18 month 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 a deletion on 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 only 200 cases have been reported world-wide, 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 the only child with Jacobsen’s that has not undergone some form of surgery. 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, last summer we attended the biennial 11q Conference in San Diego. One of the greatest impacts for us was 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. At 18 months old, our daughter Kailani is the happiest, most fun-loving child we can imagine. Even the possibility of her budding little life coming to a sudden end is a traumatizing thought. Yet, the 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 the year 2013, 50 members of the 11q Research and Resource group, primarily made up of parents and family members of children with Jacobsen’s Syndrome, will each vow 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 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 touched 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:

- Shop our online auction at Holiday Hope for 11q between now and Dec. 10 and choose from exquisite items donated by local businesses and artisans. Or, 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 11q. For more information, contact me at joygonyea@hotmail.com

- Consider contributing a tax-deductible gift to UC San Diego’s Pediatric Cardiology Jacobsen Syndrome Research and/or support the 11q Conference and scholarships by giving to the 11q Resource and Research Group. Direct questions to Dr. Paul Grossfeld: pgrossfeld@ucsd.edu

- 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 special needs child, 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 go to The Special Needs Mama (& Dads) Facebook page.

Joy Gonyea-Robertson lives in Woodway with her husband Dean Robertson and their two children, Makai and Kailani.

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5 Comments

  1. I have met this lovely little lady. She is a real sweetheart!

  2. What an excellent overview of information for Kailani’s medical challenges – I had no idea until recently that you’ve been dealing with such heart-wrenching realities. May you know that you are all held with compassion and hope for the way forward through these hard places.

  3. You guys have me in tears. To think that you’ve made it through all of this…..it’s astounding. Thank you for sharing this important story and for advocating for others in all that you do.

  4. Well written article that not only brings us the readers into your reality but also the reality of others who struggle. Great balance of hope and reality thanks for your hard work in writing this its is brave.

  5. My heart hurts so much thinking of your little baby girl and how hard this must be. It would weigh on me constantly, and your ability to move forward and support this cause is phenomenal. Kailani sounds like such a beautiful little soul. I wish the best for you and all families dealing with difficulties–I’ll be looking at the auction items shorlty.

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