Taylor, age 6

Hi, our names are Vince and Katie Tortonesi. Our six-year-old daughter, Taylor, has WHS. We have been meaning to post our story here for awhile now and are finally getting to it. Thank you, Kevin, for putting together this wonderful site and for opening it up for all of us to share our stories! We struggled to get a diagnosis on Taylor for the first three years of her life, and it was an extremely stressful, worrisome, and lonely period of time as we searched for answers and for other families who might be going through what we were. I can only imagine how helpful this site would have been to us had it been available and had we been able to get a diagnosis on Taylor when she was first born.

Our beautiful girl was born on April 23, 2004. This was my first pregnancy, and it was uncomplicated, except for the fact that Taylor was measuring small my entire pregnancy. Because my prenatal testing, (including many ultrasounds, AFI’s, NST’s, and the triple test), all came back normal, my OB felt that Taylor was just going to simply be a “small baby.” And small she was. I was induced at 42 weeks, and Taylor weighed in at 4 lbs, 15 oz, and measured 18.5 inches long. Her apgars were 8 and 9, and the delivery was uncomplicated.

I am an RN with a NICU background, and right away I had the gut feeling that something was not right. Along with being very small for her gestational age, the cartilage in Taylor’s ears was very thin, and her nasal bridge was broad and flat. The morning after she was born, it was discovered that she had a posterior (soft) cleft palate. I asked the doctors for a genetics consult, as I really felt she had some sort of a syndrome, but they did not feel it necessary. As much as we so desperately wanted to believe the doctors that she didn’t have a syndrome, my gut always told me otherwise. Taylor was discharged from the hospital with me, two days after birth. Never, in our wildest dreams, would we have ever imagined how hard it would be to get a diagnosis – especially since we live in a large city with a good sized Children’s Hospital in it.

Feeding issues were all-consuming with Taylor. We spent 45 minutes, every three hours, around the clock, trying to get the bare minimum in her. We used a special cleft bottle to feed her. Along with her cleft, she also had a weak suck, making it that much more of a challenge to feed her. Taylor soon developed reflux, which quickly became severe. Meds were of little help. At two months of age, we had to start gavage feeding her at home. Weight gain continued to be poor, as she did not hold down much of what we gave her. At seven months old, she had a Nissen Fundoplication and G-tube placed. Finally she started to gain some good weight! To this date, feeding issues continue to be a major obstacle for Taylor. She still has her G-tube, and the majority of her nutrition is dependent upon it.

At her two month check-up, Taylor’s pediatrician discovered that she had a heart murmur. A cardiac consult revealed a bicuspid aortic valve. At this point, she was referred for a genetics consult. We had to wait several months for this appointment. When she was finally able to be seen, the geneticist felt that Taylor might have 22q Deletion Syndrome. A routine chromosome anaylsis and 22q FISH probe were done, and everything came back normal. We were told to follow-up in one year with genetics if we still had concerns.

Parents will sometimes describe a feeling of guilt when they find out that their child has a genetic syndrome, as they were the ones who passed those genes onto their child. I will tell you, however, that for me it was far worse when nobody could give us any answers. The feelings of guilt, however irrational, were overwhelming when doctor after doctor – who we felt should be able to give us answers – could not. You start to think, “Well, if it’s not genetic, then what did I do wrong during my pregnancy that caused all this to happen to my poor child?”

Over the course of the next year, Taylor continued to show significant global developmental delays. Her muscle tone seemed to become more and more hypotonic as time passed. (One of our greatest challenges was trying to keep her prone to work on tummy time. Her resistance to it was limiting her progression in learning to crawl. Her grandparents developed a device for her to combat this problem, and that is how the Taylorbar came to be: www.taylorbar.com. I wanted to mention this because I know tummy time resistance is a common issue that many of our kids face.) Taylor was seen by multiple pediatric specialists over this year, as well, and we learned that she had renal hypoplasia. She also started having brief episodes of myoclonic jerks – activity that was suspicious for seizures. An EEG showed that indeed she might be prone to seizures; her MRI was normal.

Metabolic testing was done on Taylor when she was one and a half years old, and it showed she had a low carnitine level. She then had a muscle biopsy done, and the results confirmed a mitochondrial dysfunction: an Electron Transport Chain Complex II & III Deficiency. She also had a follow-up appointment with genetics around this time, which gave us no new information or answers. Our local geneticist told us that of all the patients seen by genetics whom they do believe to have some sort of a genetic diagnosis, that they are only able to determine the diagnosis in about half. This was of little comfort to us.

After Taylor turned two, she started having a few generalized seizures. She was started on Keppra after the second one, and her seizures have been very well controlled since then. Shortly before Taylor’s third birthday, we traveled out-of-state for her to be seen at the Cleveland Clinic, by a pediatric neurologist there who specializes in mitochondrial disease. This neurologist explained to us that mitochondrial disease can either be a primary disease (existing alone), or a secondary disease (caused by another (primary) diagnosis.) He felt that Taylor’s primary diagnosis was likely still an undiagnosed genetic syndrome, and that her mito disease would then be secondary to it.

We thought that all genetic testing that was available had already been done on Taylor, but that was not the case. The neurologist at Cleveland Clinic ordered a microarray test on her that had never been offered to us. One and a half weeks after it was drawn, we FINALLY had answers. It showed that Taylor has an Unbalanced Translocation of Chromosomes 4 and 8 (4p-/8p+), which has caused her to have Wolf-Hirschhorn Syndrome. The geneticist at Cleveland Clinic told us there is a gene that is important to mitochondrial function (known as LETM1), and this gene is deleted in individuals with WHS. She therefore believes that, like Taylor, most other children with WHS probably have some secondary mitochondrial dysfunction. We can’t say enough good things about Taylor’s docs at the Cleveland Clinic for finally giving us the answers we had been searching for!

Because sometimes unbalanced translocations are inherited from one of the parents, (who themselves would have a balanced translocation then), it was important for my husband and myself to be tested, as there is a significant chance for recurrence in future pregnancies if this is the case. So we were both tested, and we were relieved to learn that neither of us has a balanced translocation. Thus we were assured that Taylor’s translocation was a spontaneous occurrence, and chances for recurrence in any future pregnancies would be minimal.

Taylor is such a happy and social child. She has brought so much joy to our lives. She became a big sister in August of 2009, when our second daughter, Ashley, was born. Taylor LOVES the role of big sis and cannot get enough of her little sister. Taylor has great receptive language skills, but her expressive language is more of a challenge. She can verbally say “mama,” “grandma,” “hi,” “yeah,” “uh-oh,” and “amen!” She also signs well over 100 ASL words. She started in a new classroom this fall that is for children of grades K-4 with cognitive impairments. She loves school and riding the bus. Taylor started walking independently (without her walker) at the age of four, and she is a very strong walker now. She loves using this independence any chance she can get at a playground or park. Her other favorite activities include riding her bike, horse riding therapy, going shopping (yes, seriously!), watching Signing Time and Sesame Street, and visiting Grandma and Grandpa.

Taylor and her little sister, Ashley

Things are certainly not as we had planned or expected they would be while I was still pregnant with Taylor, but
now it’s hard to imagine it any other way. We have met some of the most amazing people and parents, and we’ve
made some of the greatest friendships ever – from this special bond we all share with each other in raising a
child with special needs.

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8 Responses to Struggle for a Diagnosis: Taylor’s story

  1. KevinO says:

    Vince and Katie- thanks for sharing your story. It baffles me that doctors are reluctant to advise the required tests to get a diagnosis. I can’t imagine having gone through that long of a wait. We waited 9 months and it was torture the entire time. I love that your entrepreneurial spirit came of the situation: Taylorbar.

    Please tell us frequently about Taylor. She’s one of the older children talked about on the site and she will surely be watched by our readership.

  2. Kristin says:

    Amazing to read your story Katie, after having been so involved with Taylor when she was little. Amazing (and overwhelming) to see it all put together. The pic of the 2 girls is very cute! 🙂 Take care!

  3. Kristy says:

    Thank you Katie and Vince for sharing you story. Your pregnancy sounded almost identical to mine with Dylan. He was our second child and all testing came back as normal and we were told we were just having a small baby. Dylan is now 23 months old and doing far better than any of the doctors expected. Thank you for sharing about the taylorbar -it sounds like a great tool for tummy time. It’s very difficult to get Dylan to say on his tummy for any length of time because he rolls right over. Taylor is an amazing little girl and I look forward to following her story and accomplishments.

    🙂 Kristy

  4. Anna says:

    Hi Katie and Vince,
    Thanks for sharing your story, though I think I know some of it already from the old listserv. Like you, it took two years for us to get Ryley’s diagnosis and he has a similar translocation, 4p-,8p+. Although he inherited it from me, as I have a balanced translocation of 4 and 8. Our second son Braeden also as the translocation. I love the photos of Katie (and her sister). Sounds like she is doing really well!
    Anna 🙂

  5. crivera75 says:

    Thanks for sharing! I love the taylor bar and have been showing everyone I know! Mia needs this right now and I will be purchasing one very soon! What an awesome idea! Thanks!

  6. christy shields says:

    Thanks for sharing your story. Taylor is beautiful! I also have a Taylor with WHS. She is 3 years old. I can’t wait to hear more on how your Taylor is doing.

  7. Laurie says:

    Thank you for sharing your story. Your pregnancy sounds so similar to mine, except that I also had an amnio done that came back with normal results. Because of that, I was absolutely shocked to learn that my baby had this syndrome, and I recall doing nothing but crying and feeling numb the first few days after her diagnosis. Unlike you, the doctors immediately suspected WHS in her and began picking apart her facial/physical features before I even had the chance to hold her in the NICU. Gratefully, I met the most wonderful and supportive group of women and men whose children share this condition, and it has made all the difference for me– and Kaylee. She also has the translocation 4p-/8p+, and it is reassuring to hear and see how far Taylor has come…I feel hope for a brighter future for Kaylee than I ever could have 1 year ago this time. We won a Taylorbar before the holidays, and it really has helped Kaylee to stay on her stomach instead of rolling over. I also am able to use it as a trunk support as she sits in her Bumbo seat as the bars keep her steady and upright…it is multipurpose! Thank you to your parents for being so innovative and generous! I am so looking forward to hearing more about Taylor in the months and the years ahead! xo

  8. Rachael says:

    Hi! It was wonderful to read your story, thanks for sharing. I’ve just discovered this site and yours is the first story I decided to read as Taylor is pretty much the same age as my daughter Rebecca (DOB: 13/02/2004). There is one over child here in New Zealand that we are aware of with WHS and we meet up with the family from time to time – they are lovely and their daughter is currently 3yrs.

    I love the pics, gorgeous girl and wonderful parents!!

    I will put some photos up of Becky and write a little something about her sometime over the next couple of weeks.

    Rach x

    (What a wonderful website and I’ve only just investigated the first few pages!!)

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