Jacqui's Story - Life With a Lymphatic Malformation
My daughter Jacqueline is 2 1/2 and was born with a large macrocystic lymphatic malformation (LM) of the right side of her face and neck. The ENT who assisted in her delivery told us that her best option would be sclerotherapy with a drug in clinical trials known as OK-432. She would be eligible to enter the study after reaching 6 months of age.
At 2 1/2 weeks old, the LM swelled and she began having trouble breathing. We rushed her to the ER and she was transferred to the NICU where they began attempting to intubate her. Before they could intubate her, the LM completely shut off her airway and she flat-lined.
I remember staring at the monitor in disbelief - at the zeros and horizontal lines while nurses and doctors swarmed over her tiny, blue-gray mottled body. I remember hearing a code blue paged for the NICU and it took a moment before it registered with me that it was for my child. Voices of people in the room sounded odd - like my head was in a bucket. I noticed that the outer edges of my vision were fading to black. I could hear my husband calling Jacqui's name, telling her to fight, not to give up. My knees began to buckle just as Jacqui took a ragged shuddering gasp. I collapsed into tears as I watched her face slowly transform from a color much like blue denim to a translucent, pale white. Moments later, she was successfully intubated and transported by ambulance back to the teaching hospital where she was born.
Her ENT told us that an infection had triggered the swelling. The swelling caused a blood vessel to rupture and she bled into the LM. They started antibiotics hoping that the swelling would go down. After two weeks her ENT told us that he felt her best option would be for us to request early admission to the off-label branch of the OK-432 trial out of Iowa.
We were warned that her results with OK-432 would not likely be as dramatic as they would have been if we could have waited to enter the study until after she was 6 months old. The reason for this was because OK-432 relies heavily on an individual's immune system to do a lot of the work. At 1 1/2 months old, Jacqui did not have an immune system to speak of, but it sounded like our only real option.
Two weeks later she was accepted into the study and received her first treatment. The swelling began to recede after another 2 weeks and a tracheostomy was performed so that we would be able to take her off the ventilator and bring her home. A gastrostomy tube was placed at the same time for her to be fed through.
She came home with a truck-load of medical equipment and supplies. Our living room was a maze of boxes and people I didn't know holding out clipboards for signatures and shouting instructions to me about how to run various pieces of equipment. We were fortunate enough to have home nursing care, but the first few nurses seemed even more lost and overwhelmed than I was. I parked one of them in front of her crib, told her not to touch anything and instructed her to yell into the monitor if Jacqui needed anything. I ran downstairs and succumbed to a mini-meltdown. I set a timer for 10 minutes and sobbed violently into a pillow. When the timer went off, I got up, splashed some cold water on my face, and went back upstairs.
Although things did get better after her trach was reversed when she was one year old, Jacqui's trach was not her only other medical complication. She is still is fed by G-tube and progress in encouraging her to eat by mouth is slow. When she was 3 months old she was diagnosed with severe reflux which later made it necessary for her to have a procedure called a nissen fundalplication in order to stop her constant vomiting. Just this year she was diagnosed with cyclic vomiting syndrome and classic migraine. We have recently learned that it is possible that the LM could be compressing her vagus nerve triggering migraines and interfering with normal nervous system stimulation of her digestive tract.
After bringing her home, we began a series of OK-432 treatments at 8 week intervals. After a total of five rounds with OK-432, we were told that her response to the drug had been moderate. The results were still significant. We believe OK-432 saved her life and enabled her to be taken off the ventilator. Although her LM is still very large, it is less than half the size that it was before treatment. We were told in March that the only remaining option for her is surgery. We began researching her surgery options and learned of Dr. Waner.
The day of our consult with Dr. Waner we checked in and made our way into the crowded waiting room. It was immediately clear to us that it was no ordinary waiting room. The room was filled talk of "angel kisses" and "pretty marks" and a host busy toddlers - all of them with severe hemangiomas in various stages of treatment. Jacqui was the only child with a lymphatic malformation, but no one stared, no one pointed, no one whispered. We were greeted warmly by a roomful of parents who understood the pain of cruel comments and surreptitious stares. No one was called back for their appointment on time. No one cared. Everyone understood that we were fortunate to be there at all. So we waited - gladly. We talked and shared experiences. We cried over each others heartaches. We encouraged each others hopes. Waiting in that room was an experience I would have gladly paid money for. I never heard a single person ask "How much longer?"
At a little over three hours past our scheduled appointment we were ushered back to an exam room where we met Dr. Waner. His eyes are kind and intelligent. The perfect compliment to his quiet and patient voice. He is surrounded by a completely unexpected air of humility while at the same time somehow manages to simply exude authority. The kind of authority that is solidly grounded in experience and skill as opposed to self-perceived importance - the variety that I would be loathe to challenge. He smiles easily and laughs warmly. In his eyes you can see that he cares about the children he treats with intensity.
He examined Jacqui's LM, and then excused himself to review her MRI films. He returned and sat down and looked us directly in the eyes and said "I can fix this." My thoughts swam as I struggled to grasp the magnitude of what he was telling us. I looked over at my husband, Ken, and his eyes were bright with tears, as were mine. One of us, I don't recall who, asked the brilliantly phrased question "What do you mean by fix?"
He smiled indulgently and then responded. "I can remove it. All of it. The scar will not be noticeable." We brushed away tears as he continued with the details. It would be a complicated and long surgery - 8 to 10 hours. He said that he expected that her facial nerves and carotid artery would be fine, as would her trachea. He described the scar. He would work the incision into one of the natural folds or creases in her neck. He said that once the scar lightens, it will look like a normal crease in her neck and be nearly indiscernible. Her anticipated hospital stay is 4-5 days with one night in the ICU. She is tentatively scheduled for surgery on the 12th of October. This consult was different. This time we heard "Everything is going to be ok." A statement I had nearly despaired of ever hearing.
We were often asked if we wished things were different - a question that used to baffle me until I realized that most people have a hard time picturing what our life has been like. Yes, there are countless things that we wish had been different. Even now I wish I could look into her beautiful little eyes without a twinge of heartache. I wish there were no doctors, surgeries, needles, wires, tubes, monitors or dark looming medical fears in her future. During her first year of life, I wish she could have slept without someone standing by as guardian over her every breath. I wish I could have held her in my arms and fed her instead of having to sit and watch the glowing red numbers of an LED screen click along with scientific precision as a machine fed her in my place. I wish that once every two weeks I hadn't had to thread a new plastic trach tube into a gaping hole in her neck while praying that she didn't turn blue. I wish I had never seen her turn blue. I wish that in the days of her infancy I could have merely heard the gentle whisper of a sleeping baby’s breathing instead of the whir of an air compressor and the mechanical hiss of a humidifier providing needed moisture to her lungs. I wish we could have taken her for drives in the car without having to cart along a mountain of medical equipment and supplies that effectively converted our Subaru station wagon into an over-crowded ambulance. I wish I could have heard my child's first laugh instead of just seeing the laughter in her eyes. I still wish that life didn’t feel like a futile attempt at playing house in the revolving doors of a hospital lobby. I wish I could just be her Mom instead of her nurse, physical therapist, paramedic, medical scheduler, case manager and insurance advocate. I wish I could tell her when it would all be over. I wish it were today.
Less often, we’re asked what we’re grateful for. We’re grateful for all of it. Every minute she’s here. When we start feeling like life’s not fair, when we feel like we can’t get through another day, we think of how fortunate we are that she’s here at all. Every breath she takes is a miracle and a blessing to us. Every moment is precious, priceless and to be cherished.
We hope that Jacqui's story will encourage and inspire others facing similar or even worse challenges than we have. Our hearts go out to each parent who has lived through the pain and shattered hopes that go hand-in-hand with raising such a child. Our prayers are with you all.
Re: Jacqui's Story - Life With a Lymphatic Malformation
I just wanted to let you know how touching that story really was. We are here for you. There are several people (mostly mothers) on this group that share your opinions about Dr. Waner. He is a mirical worker, and I am glad he teaches other doctors as well as proforming all the surgeries he does to make everybody knowledgeable about awere (childs) conditions we have to live with.
Thank you again for shareing your daughter's story.
Re: Jacqui's Story - Life With a Lymphatic Malformation
Thanks so much for taking the time to read her story. I know it's nothing compared to what you have been through, but your kind words meant a lot to us. Thanks for starting up this message board - I think it is invaluable for families like ours to be able to have a safe place to talk about things that most people wouldn't understand or even care about.
Bannayan-Riley-Ruvalcaba Syndrome and Lymphatic Malformations
I had Lymphatic Malformations that began in childhood too. At four years of age my legs both swelled up with Lymphedema at the same time I was developing 12-15 cystic lymphatic tumors under both arms. I know know these as Lymphangiomas. I have had recurrent Cellulits/Acute Lymphangitis off and on for many years.
I'll be strightforward here. I lived with the lymphatic malformations and other symptoms through mid-adulthood. Doctors scoffed at the Lymphedema ("just fat legs") and the tumors. They should be ashamed of themselves, actually, as I have now been diagnosed by an expert Geneticist with a rare disorder known as Bannayan-Riley-Ruvalcaba Syndrome/Cowden Syndrome. Lymphatic malformations are one of the more seldom seen symptoms of this dosorder, but I happened to have fit the bill. Don't want to alarm you, but it might be good to familiarize yourself with BRRS/CS in case your child goes on to develop this.
Thank you so much for your story. It has given me so much hope and I know now that we are not alone. I thought what we went through with my son being so sick his first three years with his lymphatic malformations (through out his chest and lungs) now I know it could've been worse. My son almost didn't make it after birth and so I faced a similar situation. YOU are right, I wouldn't change a thing and am blessed every day, every moment I have with my son is a precious gift. God bless you and all who face similar situations. the West's
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